F5

Summary

F5 (coagulation factor V, HGNC:3542) is a protein-coding gene on chromosome 1q24.2, encoding Coagulation factor V (P12259). Central regulator of hemostasis.

This gene encodes an essential cofactor of the blood coagulation cascade. This factor circulates in plasma, and is converted to the active form by the release of the activation peptide by thrombin during coagulation. This generates a heavy chain and a light chain which are held together by calcium ions. The activated protein is a cofactor that participates with activated coagulation factor X to activate prothrombin to thrombin. Defects in this gene result in either an autosomal recessive hemorrhagic diathesis or an autosomal dominant form of thrombophilia, which is known as activated protein C resistance.

Source: NCBI Gene 2153 — RefSeq curated summary.

At a glance

• Gene–disease (curated): thrombophilia due to activated protein C resistance (Definitive, ClinGen) — +2 more curated relationships
• GWAS associations: 40 (top 3% of genes corpus-wide)
• Clinical variants (ClinVar): 1,487 total — 61 pathogenic, 40 likely-pathogenic (top 2% of genes corpus-wide)
• GTEx eGene: eQTL in 24 tissues, sQTL in 2 (q < 0.05)
• Phenotypes (HPO): 60
• Drug target: yes — 1 curated mechanism-of-action drug; 2 molecules with ChEMBL bioactivity
• Approved drugs (ChEMBL mechanism of action): 1 — Drotrecogin Alfa (Activated)
• Constraint (gnomAD): pLI 0.00 (LoF-tolerant), LOEUF 0.70 (unconstrained)
• MANE Select transcript: NM_000130

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:3542
Approved symbol	F5
Name	coagulation factor V
Location	1q24.2
Locus type	gene with protein product
Status	Approved
Aliases	fV
Ensembl gene	ENSG00000198734
Ensembl biotype	protein_coding
OMIM	612309
Entrez	2153

Gene structure

Transcript identifiers

Ensembl transcripts: 12 — 7 protein_coding, 4 nonsense_mediated_decay, 1 retained_intron

MANE Select: ENST00000367797

Transcript support level (Ensembl TSL; 1 = fully mRNA-supported): TSL 1: 1, TSL 2: 1, TSL 5: 1

ENST00000367797, ENST00000367796, ENST00000495481, ENST00000904427, ENST00000904428, ENST00001004877, ENST00001004879, ENST00001109398, ENST00001109399, ENST00001119216, ENST00001119217, ENST00001144417

RefSeq mRNA: 1 — MANE Select: NM_000130 NM_000130

CCDS: CCDS1281

Canonical transcript exons

ENST00000367797 — 25 exons

Exon	Start	End
ENSE00000789603	169544296	169544508
ENSE00000789604	169546442	169546592
ENSE00000789605	169549801	169550015
ENSE00000789606	169550640	169550739
ENSE00000789607	169552557	169552734
ENSE00000789610	169559153	169559296
ENSE00000789613	169582431	169582522
ENSE00000814494	169540294	169543114
ENSE00000814495	169536506	169536680
ENSE00000814496	169530786	169531022
ENSE00000814502	169523197	169523352
ENSE00000814503	169520520	169520664
ENSE00000814505	169515444	169515626
ENSE00001168273	169518412	169518563
ENSE00001168281	169523801	169523904
ENSE00001168291	169524837	169524908
ENSE00001367181	169525901	169526017
ENSE00001376235	169529608	169529818
ENSE00001388919	169527915	169528094
ENSE00001435673	169555182	169555347
ENSE00001435704	169556646	169556867
ENSE00003609709	169560554	169560766
ENSE00003638555	169572221	169572343
ENSE00003855085	169511951	169514459
ENSE00003897926	169586229	169586481

Expression profiles

Bgee: expression breadth ubiquitous, 206 present calls, max score 98.57.

FANTOM5 (CAGE): breadth broad, TPM avg 4.5581 / max 300.2296, expressed in 363 samples.

Highest expression (Bgee): lobe of liver, liver, choroid plexus epithelium, pancreatic ductal cell, placenta.

Genetic regulation across tissues (GTEx eQTL / sQTL)

F5 is an eGene in GTEx v10 — its expression is genetically regulated (eQTL) in 24 tissues and its splicing (sQTL) in 2 (q < 0.05). Strongest associations first; slope = normalized effect of the lead variant’s alternative allele.

showing 20 of 26 significant tissue × QTL associations:

Tissue	QTL	q-value	Slope	Lead variant
Whole Blood	eqtl	4.2e-36	-0.27	1:169563395:T:C
Skin Sun Exposed Lower leg	eqtl	1.5e-17	-0.23	1:169566395:A:C
Skin Not Sun Exposed Suprapubic	eqtl	2.7e-09	-0.19	1:169570685:C:T
Spleen	eqtl	4.8e-08	-0.25	1:169594929:G:C
Thyroid	eqtl	7.9e-06	+0.98	1:169576214:G:A
Brain Cortex	eqtl	2.8e-05	+0.45	1:169566395:A:C
Esophagus Mucosa	eqtl	3.7e-05	-0.23	1:169571354:T:C
Lung	eqtl	6.7e-05	-0.22	1:169609348:G:A
Whole Blood	sqtl	1.5e-04	+0.26	1:169558707:C:T
Brain Frontal Cortex BA9	eqtl	2.5e-04	+0.44	1:169575890:G:T
Colon Transverse	eqtl	4.8e-04	-0.27	1:169569009:C:T
Pancreas	eqtl	5.0e-04	+0.29	1:169570710:A:AT
Nerve Tibial	eqtl	5.4e-04	+0.52	1:169555933:G:T
Adipose Subcutaneous	eqtl	4.0e-03	-0.13	1:169559592:C:T
Esophagus Gastroesophageal Junction	eqtl	4.6e-03	-0.26	1:169571354:T:C
Adipose Visceral Omentum	eqtl	1.1e-02	-0.17	1:169556570:G:A
Esophagus Muscularis	eqtl	1.1e-02	-0.21	1:169565958:T:G
Testis	eqtl	1.2e-02	+0.14	1:169549537:A:G
Liver	sqtl	2.1e-02	-0.48	1:169575149:C:T
Brain Caudate basal ganglia	eqtl	2.7e-02	-0.24	1:169503902:T:A

FANTOM5 promoters

5 alternative TSS:

Promoter ID	TPM avg	Samples expressed
15849	2.9074	327
15848	1.3850	263
15850	0.1264	30
15846	0.0779	39
15847	0.0614	32

Top tissues by expression

showing 100 of 280 tissues by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
right lobe of liver	UBERON:0001114	98.57	gold quality
liver	UBERON:0002107	98.15	gold quality
choroid plexus epithelium	UBERON:0003911	97.27	gold quality
pancreatic ductal cell	CL:0002079	92.73	gold quality
placenta	UBERON:0001987	91.98	gold quality
cranial nerve II	UBERON:0000941	89.63	gold quality
monocyte	CL:0000576	89.23	gold quality
leukocyte	CL:0000738	88.99	gold quality
mononuclear cell	CL:0000842	88.93	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	88.86	gold quality
blood	UBERON:0000178	88.16	gold quality
gall bladder	UBERON:0002110	88.14	gold quality
epithelial cell of pancreas	CL:0000083	88.06	silver quality
granulocyte	CL:0000094	87.43	gold quality
renal glomerulus	UBERON:0000074	86.43	gold quality
metanephric glomerulus	UBERON:0004736	85.81	gold quality
trabecular bone tissue	UBERON:0002483	83.92	gold quality
tendon of biceps brachii	UBERON:0008188	83.11	gold quality
heart right ventricle	UBERON:0002080	80.44	gold quality
bone marrow	UBERON:0002371	79.75	gold quality
parietal pleura	UBERON:0002400	78.57	gold quality
olfactory bulb	UBERON:0002264	77.89	gold quality
nasal cavity mucosa	UBERON:0001826	77.77	gold quality
caput epididymis	UBERON:0004358	77.75	gold quality
heart left ventricle	UBERON:0002084	77.63	gold quality
cardiac ventricle	UBERON:0002082	77.57	gold quality
minor salivary gland	UBERON:0001830	77.32	gold quality
spleen	UBERON:0002106	77.06	gold quality
tibia	UBERON:0000979	76.86	gold quality
apex of heart	UBERON:0002098	76.41	gold quality
right atrium auricular region	UBERON:0006631	75.84	gold quality
kidney epithelium	UBERON:0004819	75.55	gold quality
bone marrow cell	CL:0002092	75.54	gold quality
layer of synovial tissue	UBERON:0007616	75.48	gold quality
lateral globus pallidus	UBERON:0002476	75.22	gold quality
adenohypophysis	UBERON:0002196	75.10	gold quality
mouth mucosa	UBERON:0003729	75.09	gold quality
pituitary gland	UBERON:0000007	75.00	gold quality
heart	UBERON:0000948	74.94	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	74.49	gold quality
cardiac atrium	UBERON:0002081	74.42	gold quality
buccal mucosa cell	CL:0002336	74.36	gold quality
metanephros	UBERON:0000081	74.35	gold quality
pleura	UBERON:0000977	74.30	gold quality
trachea	UBERON:0003126	74.30	gold quality
type B pancreatic cell	CL:0000169	74.24	gold quality
superficial temporal artery	UBERON:0001614	74.07	gold quality
male germ cell	CL:0000015	73.80	silver quality
saliva-secreting gland	UBERON:0001044	73.74	gold quality
sperm	CL:0000019	73.40	silver quality
inferior vagus X ganglion	UBERON:0005363	72.80	gold quality
lymph node	UBERON:0000029	72.01	gold quality
right coronary artery	UBERON:0001625	71.86	gold quality
periodontal ligament	UBERON:0008266	71.79	gold quality
right lung	UBERON:0002167	71.33	gold quality
synovial joint	UBERON:0002217	71.09	gold quality
islet of Langerhans	UBERON:0000006	70.74	gold quality
cortex of kidney	UBERON:0001225	70.56	gold quality
corpus callosum	UBERON:0002336	69.27	gold quality
tibial artery	UBERON:0007610	68.89	gold quality
popliteal artery	UBERON:0002250	68.87	gold quality
diaphragm	UBERON:0001103	68.64	gold quality
upper lobe of left lung	UBERON:0008952	68.58	gold quality
tonsil	UBERON:0002372	68.38	gold quality
adult mammalian kidney	UBERON:0000082	68.08	gold quality
upper lobe of lung	UBERON:0008948	68.01	gold quality
lateral nuclear group of thalamus	UBERON:0002736	67.94	gold quality
vermiform appendix	UBERON:0001154	67.84	gold quality
pericardium	UBERON:0002407	67.84	gold quality
myocardium	UBERON:0002349	67.73	silver quality
oral cavity	UBERON:0000167	67.72	gold quality
coronary artery	UBERON:0001621	67.72	gold quality
pancreas	UBERON:0001264	67.69	gold quality
kidney	UBERON:0002113	67.58	gold quality
left coronary artery	UBERON:0001626	67.54	gold quality
pylorus	UBERON:0001166	67.49	gold quality
mucosa of urinary bladder	UBERON:0001259	67.37	gold quality
visceral pleura	UBERON:0002401	67.12	gold quality
caecum	UBERON:0001153	66.99	gold quality
tongue squamous epithelium	UBERON:0006919	66.43	gold quality
triceps brachii	UBERON:0001509	66.12	gold quality
skin of leg	UBERON:0001511	66.08	gold quality
gluteal muscle	UBERON:0002000	66.04	gold quality
cervix squamous epithelium	UBERON:0006922	65.82	gold quality
superior surface of tongue	UBERON:0007371	65.80	gold quality
omental fat pad	UBERON:0010414	65.08	gold quality
peritoneum	UBERON:0002358	65.06	gold quality
adipose tissue of abdominal region	UBERON:0007808	65.03	gold quality
tendon	UBERON:0000043	64.97	gold quality
substantia nigra pars compacta	UBERON:0001965	64.92	silver quality
upper leg skin	UBERON:0004262	64.90	gold quality
dorsal plus ventral thalamus	UBERON:0001897	64.66	silver quality
aorta	UBERON:0000947	64.58	gold quality
body of pancreas	UBERON:0001150	64.57	gold quality
zone of skin	UBERON:0000014	64.56	gold quality
prostate gland	UBERON:0002367	64.45	gold quality
globus pallidus	UBERON:0001875	64.43	gold quality
duodenum	UBERON:0002114	64.14	gold quality
substantia nigra	UBERON:0002038	64.00	gold quality
skin of abdomen	UBERON:0001416	63.88	gold quality

Single-cell (SCXA)

Detected in 8 experiment(s), a significant marker in 7.

Experiment	Marker?	Max mean expression
E-GEOD-100618	yes	1402.47
E-HCAD-29	yes	298.07
E-MTAB-5061	yes	9.39
E-ANND-3	yes	6.67
E-GEOD-81608	yes	5.97
E-ENAD-27	yes	5.09
E-GEOD-81547	yes	4.83
E-GEOD-83139	no	3.84

HPA expression

RNA tissue specificity: Group enriched

showing 60 of 70 HPA tissues / cells by nTPM:

Tissue / cell	Axis	nTPM
Choroid plexus	tissue	306.3
Liver	tissue	164.8
Prefrontal cortex	tissue	89.3
Cerebral cortex	tissue	89.3
Motor cortex	tissue	87.7
Temporal cortex	tissue	86.0
Somatosensory cortex	tissue	83.3
Hippocampal formation	tissue	80.9
Entorhinal cortex	tissue	80.9
Occipital cortex	tissue	80.4
Insular cortex	tissue	73.7
Retrosplenial and cingulate cortex	tissue	69.2
Retrosplenial cortex	tissue	66.4
Amygdala	tissue	53.1
Putamen	tissue	46.2
Placenta	tissue	44.1
Olfactory bulb	tissue	37.0
Ventral forebrain	tissue	31.9
Septum	tissue	29.0
Basal ganglia	tissue	26.9
Gallbladder	tissue	16.5
Substantia nigra	tissue	8.3
Spinal cord	tissue	7.4
Postcentral gyrus	tissue	6.6
Corpus callosum	tissue	5.5
Hypothalamus	tissue	5.2
Nucleus accumbens	tissue	4.7
Hippocampus	tissue	4.7
Stomach 1	tissue	4.6
Midbrain	tissue	4.5
Locus coeruleus	tissue	4.3
Pons	tissue	3.9
Urinary bladder	tissue	3.5
Medulla oblongata	tissue	3.5
Bone marrow	tissue	3.5
Fallopian tube	tissue	3.2
Appendix	tissue	3.0
Superior colliculi	tissue	2.8
Periaqueductal gray	tissue	2.8
Thalamus	tissue	2.5
Cerebellum	tissue	2.4
Caudate putamen	tissue	2.4
Heart muscle	tissue	2.2
Tonsil	tissue	2.2
Lymph node	tissue	2.0
Pituitary gland	tissue	1.5
Kidney	tissue	1.4
Spleen	tissue	1.2
Prostate	tissue	1.2
Adipose tissue	tissue	1.0
Smooth muscle	tissue	1.0
Retina	tissue	0.8
Duodenum	tissue	0.8
Salivary gland	tissue	0.7
Pancreas	tissue	0.7
Rectum	tissue	0.6
Lung	tissue	0.6
Thymus	tissue	0.5
Testis	tissue	0.4
Colon	tissue	0.3

Brain sub-regions (HPA Brain Atlas): detected in 189; highest nTPM — Subiculum (63.4), Ventral hippocampus (47.7), Dorsal hippocampus (41.8), Cerebellar nuclei (14.0), Hippocampus, CA3 (13.4).

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): ESR1

miRNA regulators (miRDB)

Targeting F5 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific).

showing 30 of 122 miRNAs:

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-4283	100.00	66.42	2097
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-4795-3P	100.00	74.62	4024
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-126-5P	100.00	72.71	3180
HSA-MIR-4262	100.00	73.26	3931
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-6077	99.99	68.04	2299
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-568	99.98	69.86	2084
HSA-MIR-8068	99.98	73.85	2376
HSA-MIR-302C-5P	99.97	72.56	3642
HSA-MIR-3688-3P	99.97	72.02	2834
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-3658	99.96	73.87	4379
HSA-MIR-185-3P	99.95	67.01	1743
HSA-MIR-1236-3P	99.94	68.04	1695
HSA-MIR-548AD-5P	99.94	71.23	3502
HSA-MIR-548AE-5P	99.94	71.23	3502
HSA-MIR-548AK	99.94	71.24	3488
HSA-MIR-548AM-5P	99.94	71.24	3488
HSA-MIR-548AQ-5P	99.94	71.34	3426
HSA-MIR-548AR-5P	99.94	71.28	3515
HSA-MIR-548AU-5P	99.94	71.24	3488
HSA-MIR-548AY-5P	99.94	71.23	3502
HSA-MIR-548B-5P	99.94	71.23	3502
HSA-MIR-548BB-5P	99.94	71.27	3509
HSA-MIR-548C-5P	99.94	71.24	3488
HSA-MIR-548D-5P	99.94	71.23	3502
HSA-MIR-548H-5P	99.94	71.24	3488

Functional genomics

gnomAD constraint: pLI 5.22e-24, LOEUF 0.704, missense Z 2.79 — population loss-of-function intolerance (pLI ≥ 0.9 = LoF-intolerant; lower LOEUF = more constrained). gnomAD

Regional missense constraint (gnomAD)

ENST00000367797 splits into 4 regions with different missense tolerance; 0 are missense-constrained. Missense variants in a constrained region (low observed/expected) are more likely to be pathogenic. gnomAD

Region (GRCh38)	Missense obs / exp	o/e	Constrained
1:169,514,316–169,540,381	659 / 787.9	0.84	no
1:169,540,382–169,541,061	293 / 270.8	1.08	no
1:169,541,062–169,541,212	26 / 60.6	0.43	no
1:169,541,213–169,586,386	1425 / 1554.8	0.92	no

Literature-anchored findings (GeneRIF, showing 34)

• The combined effect of aprotinin and extracorporeal circulation resulted in lowered APC ratios for Factor V Leiden blood. Increased risk of perioperative thrombosis in cardiac surgical patients heterozygous for the F5L mutation is predicted. (PMID:11761087)
• Screening 35 polymorphisms in 27 candidate genes showed that the R485K polymorphism in the coagulation factor V gene is associated with severe preeclampsia. (PMID:11776341)
• This review of hemostatic variables identifying those at risk of in-patient hospital death from pulmonary embolism (PE)notes that the prevalence of factor V Leiden may be a ‘milder’ genetic risk factor for PE than for deep venous thrombosis (PMID:11806843)
• N-linked carbohydrate moieties play a substantial role in the activated protein C-catalyzed cleavage and inactivation of pro-cofactor V (but not the derived cofactor factor Va) at position Arg306, the initial cleavage site. (PMID:11814362)
• no interaction of venous thromboembolism with the R2 allele of Factor V or with FV Leiden was observed. (PMID:11816705)
• Association of factor V Leiden gene mutation with Behcet’s disease. (FAactor V LEeiden) (PMID:11820731)
• Mothers with factor V Leiden have a higher risk of having low birth-weight infants or fetal loss, possibly due to underperfusion of the placenta. (PMID:11836168)
• Factor V Leiden mutation is associated with delayed graft function, acute rejection & chronic graft dysfunction after kidney transplantation. Continuous subclinical renal microthrombosis due to Facor V Leiden may contribute to chronic graft dysfunction. (PMID:11858477)
• A homozygous nucleotide change (G6395A) was found in 2 pts with Factor V deficiency. This results in the replacement of an Arg by a His in position 2074, located in the Factor V C2-domain. Mutations in this domain have not previously been described. (PMID:11858490)
• No association was found between factor V Leiden and fatal myocardial infarction in Finland. (PMID:11858502)
• A decrease of factor V may contribute to the thrombotic effects of oral contraceptives. Effects of combined oral contraceptives vs. progestagens only on factors VII, IX and XI were different in women with and without FV Leiden. (PMID:11859850)
• The effect of factor V mutations at R306G, R306T, R506Q, R679A on activated protein C resistance were studied. Arg306 mutations cause mildly reduced APC No effect was seen for the Ala679 mutation. (PMID:11943934)
• mutation associated with preeclampsia in pregnant Japanese women. (PMID:11950065)
• Factor Va increases the affinity of factor Xa for prothrombin. (PMID:11983337)
• Factor V Arg2074Cys: a novel missense mutation in the C2 domain of factor V is associated with hemorrhagic diathesis. (PMID:12038802)
• prevalence of FVL, FII G20210A and MTHFR C677T in women with three or more pregnancy losses (PMID:12042290)
• identifies FVa binding site in the positive exosite of APC that is primarily involved in binding and cleaving at Arg(506) on FVa (PMID:12063259)
• These results suggest that that there is no association between the factor V Leiden mutation and recurrent spontaneous abortion in the Malay population. (PMID:12069143)
• evaluation of Factor V Leiden as a risk factor for myocardial infarction, ischemic stroke, or non-MI ischemic heart disease (PMID:12070000)
• The 2 FV variants FV Hong Kong and FV Cambridge yielded identical APC resistance patterns, with APC responses being intermediate to those of wild-type FV and FV Leiden (Arg506Gln) (PMID:12091344)
• Activated protein C cleaves factor Va more efficiently on endothelium than on platelet surfaces. (PMID:12091346)
• Data show that factor V activation is associated with the stepwise release of the B-domain after incubation with thrombin, which results in a gradual exposure of the factor Xa-binding site. (PMID:12163491)
• inactivation of plasma FVa by APC is not impaired in human volunteers with acute hyperhomocysteinemia. (PMID:12200374)
• The factor V Leiden mutation is associated with the occurrence of a previous systemic embolism. (PMID:12208422)
• Prevalence of the FV Leiden mutation in polycythemia vera and essential thrombocythemia is comparable with that in the general population. It is a risk factor for venous thromboembolism (VTE) before and at time of diagnosis and for VTE recurrence. (PMID:12221665)
• molecular basis of quantitative factor V deficiency associated with haplotype (PMID:12239164)
• The effect of FV concentration and FV isoform composition on the APC-response was determined by reconstituting FV-deficient plasma with purified FV1 and FV2 in different molar ratios and varying FV concentrations and determining APC sensitivity ratios. (PMID:12353074)
• A binding site for activated factor X (Xa) is located on the heavy chain of factor Va between Glu323-Val331, a sequence which competes with factor Va for high affinity binding to factor Xa on the membrane surface. (PMID:12379114)
• characterization of Factor Va binding sites for Factor Xa (PMID:12384508)
• The effect of the Arg2074Cys mutation on FV secretion, stability, and activity (PMID:12393490)
• apart from the FVL, the F5 locus itself plays a relatively minor role in normal variation in activated protein C resistance, including the HR2 haplotype polymorphisms (PMID:12393556)
• REVIEW: genetics and roles in normal hemostasis and dysfunction in blood coagulation disorders (PMID:12393635)
• prevalence of mutation and prothrombin G20210A gene mutations in a recurrent miscarriage population (PMID:12447960)
• There are increased frequencies of Factor V Leiden mutations/polymorphisms potentially causing thrombophilia in patients with no flow-limiting stenoses after myocardial infarction. (PMID:12514663)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	f5	ENSDARG00000055705
mus_musculus	F5	ENSMUSG00000026579
rattus_norvegicus	F5	ENSRNOG00000057855

Paralogs (35): NRXN3 (ENSG00000021645), TLL1 (ENSG00000038295), CP (ENSG00000047457), DCBLD2 (ENSG00000057019), HEPH (ENSG00000089472), TLL2 (ENSG00000095587), NRP1 (ENSG00000099250), PCOLCE (ENSG00000106333), CNTNAP3 (ENSG00000106714), CUBN (ENSG00000107611), CNTNAP1 (ENSG00000108797), NRXN2 (ENSG00000110076), MEP1A (ENSG00000112818), NRP2 (ENSG00000118257), CUZD1 (ENSG00000138161), MFGE8 (ENSG00000140545), MEP1B (ENSG00000141434), PDGFC (ENSG00000145431), CNTNAP4 (ENSG00000152910), CNTNAP3B (ENSG00000154529), CNTNAP5 (ENSG00000155052), CDCP2 (ENSG00000157211), PCOLCE2 (ENSG00000163710), EDIL3 (ENSG00000164176), NETO1 (ENSG00000166342), BMP1 (ENSG00000168487), PDGFD (ENSG00000170962), NETO2 (ENSG00000171208), CNTNAP2 (ENSG00000174469), NRXN1 (ENSG00000179915), HEPHL1 (ENSG00000181333), F8 (ENSG00000185010), ASTL (ENSG00000188886), MFRP (ENSG00000235718), CNTNAP3C (ENSG00000283378)

Mouse-model phenotypes

Observed phenotypes of the mouse ortholog (MGI:88382) from MGI (Alliance of Genome Resources) — knockout/mutant phenotypes, ranked by annotation count. 19 distinct phenotype terms.

Mouse phenotype (MP)	Records
abnormal thrombosis	2
preweaning lethality, incomplete penetrance	2
internal hemorrhage	1
abnormal somite development	1
abnormal visceral yolk sac morphology	1
absent visceral yolk sac blood islands	1
hemorrhage	1
abnormal blood coagulation	1
liver fibrosis	1
pallor	1
lethargy	1
abnormal circulating protein level	1
increased bleeding time	1
neonatal lethality, complete penetrance	1
neonatal lethality, incomplete penetrance	1
embryonic lethality during organogenesis, incomplete penetrance	1
skin hemorrhage	1
increased prothrombin time	1
increased partial thromboplastin time	1

Additional cross-species homologs

Sequence homologs in species beyond Ensembl Compara’s model organisms, by Diamond local protein alignment (% sequence identity; best hit per species). Lower-identity rows are more distant homologs. The matched accessions’ gene symbols aren’t in biobtree yet, so each row shows the UniProt accession.

Organism	UniProt	Identity	Method
Pongo abelii	Q5R7K9	99.6%	Diamond
Oxyuranus microlepidotus	Q58L90	97.7%	Diamond
Oxyuranus scutellatus	Q58L91	97.7%	Diamond
Dictyostelium discoideum	P02887	97.6%	Diamond
Pseudonaja textilis	Q7SZN0	96.9%	Diamond
Ovis aries	Q9XT27	84.9%	Diamond
Sus scrofa	P79385	84.8%	Diamond
Bos taurus	Q95114	84.8%	Diamond
Gallus gallus	P79795	80.9%	Diamond
Xenopus laevis	P28824	74.4%	Diamond
Brassica rapa subsp. pekinensis	M4DUF2	70.5%	Diamond
Takifugu rubripes	Q9W6R5	67.0%	Diamond
Acropora millepora	B3EWZ9	50.4%	Diamond
Drosophila melanogaster	Q94887	44.1%	Diamond
Caenorhabditis elegans	Q18163	35.6%	Diamond

Genomic neighbors (locus context)

Genes flanking this one on the chromosome (NCBI/Entrez gene neighborhood). Positional context only — some neighbors share regulatory elements (bidirectional promoters, antisense/overlapping transcripts), but chromosomal adjacency is not itself a functional relationship (see Interactions for that).

Symbol	Type	Entrez
NME7	protein-coding	29922
ATP1B1	protein-coding	481
CCDC181	protein-coding	57821
SELP	protein-coding	6403
BLZF1	protein-coding	8548
SELE	protein-coding	6401
SELL	protein-coding	6402
SLC19A2	protein-coding	10560

Protein

Protein identifiers

Coagulation factor V — P12259 (reviewed: P12259)

Alternative names: Activated protein C cofactor, Proaccelerin, labile factor

All UniProt accessions (2): P12259, A0A0A0MRJ7

UniProt curated annotations — full annotation on UniProt →

Function. Central regulator of hemostasis. It serves as a critical cofactor for the prothrombinase activity of factor Xa that results in the activation of prothrombin to thrombin.

Subunit / interactions. Factor Va, the activated form of factor V, is composed of a heavy chain and a light chain, non-covalently bound. The interaction between the two chains is calcium-dependent. Forms heterodimer with SERPINA5.

Subcellular location. Secreted.

Tissue specificity. Plasma.

Post-translational modifications. Thrombin activates factor V proteolytically to the active cofactor, factor Va (formation of a heavy chain at the N-terminus and a light chain at the C-terminus). Sulfation is required for efficient thrombin cleavage and activation and for full procoagulant activity. Activated protein C inactivates factor V and factor Va by proteolytic degradation. Phosphorylated by FAM20C in the extracellular medium.

Disease relevance. Factor V deficiency (FA5D) [MIM:227400] A blood coagulation disorder leading to a hemorrhagic diathesis known as parahemophilia. The disease is caused by variants affecting the gene represented in this entry. Thrombophilia due to activated protein C resistance (THPH2) [MIM:188055] A hemostatic disorder due to defective degradation of factor V by activated protein C. It is characterized by a poor anticoagulant response to activated protein C resulting in tendency to thrombosis. The disease is caused by variants affecting the gene represented in this entry. Budd-Chiari syndrome (BDCHS) [MIM:600880] A syndrome caused by obstruction of hepatic venous outflow involving either the hepatic veins or the terminal segment of the inferior vena cava. Obstructions are generally caused by thrombosis and lead to hepatic congestion and ischemic necrosis. Clinical manifestations observed in the majority of patients include hepatomegaly, right upper quadrant pain and abdominal ascites. Budd-Chiari syndrome is associated with a combination of disease states including primary myeloproliferative syndromes and thrombophilia due to factor V Leiden, protein C deficiency and antithrombin III deficiency. Budd-Chiari syndrome is a rare but typical complication in patients with polycythemia vera. Disease susceptibility is associated with variants affecting the gene represented in this entry. Ischemic stroke (ISCHSTR) [MIM:601367] A stroke is an acute neurologic event leading to death of neural tissue of the brain and resulting in loss of motor, sensory and/or cognitive function. Ischemic strokes, resulting from vascular occlusion, is considered to be a highly complex disease consisting of a group of heterogeneous disorders with multiple genetic and environmental risk factors. Disease susceptibility is associated with variants affecting the gene represented in this entry. Pregnancy loss, recurrent, 1 (RPRGL1) [MIM:614389] A common complication of pregnancy, resulting in spontaneous abortion before the fetus has reached viability. The term includes all miscarriages from the time of conception until 24 weeks of gestation. Recurrent pregnancy loss is defined as 3 or more consecutive spontaneous abortions. Disease susceptibility is associated with variants affecting the gene represented in this entry.

Activity regulation. Inhibited by SERPINA5.

Domain organisation. Domain B contains 35 x 9 AA tandem repeats, and 2 x 17 AA repeats.

Similarity. Belongs to the multicopper oxidase family.

RefSeq proteins (1): NP_000121* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000421	FA58C	Domain
IPR008972	Cupredoxin	Homologous_superfamily
IPR008979	Galactose-bd-like_sf	Homologous_superfamily
IPR011707	Cu-oxidase-like_N	Domain
IPR024715	Factor_5/8-like	Family
IPR033138	Cu_oxidase_CS	Conserved_site
IPR050633	Neuropilin_MCO_CoagFactor	Family

Pfam: PF00754, PF07732

UniProt features (343 total): strand 136, repeat 37, sequence variant 35, helix 30, glycosylation site 27, turn 18, domain 11, region of interest 9, modified residue 9, disulfide bond 7, site 7, sequence conflict 4, compositionally biased region 4, binding site 4, chain 3, signal peptide 1, propeptide 1

Structure

Experimental structures (PDB)

23 structures by resolution:

PDB	Title	Method	Resolution (Å)
9I24	Coagulation factor Xa complex with a2-loop peptide	X-RAY DIFFRACTION	1.2
3P6Z	Structural basis of thrombin mediated factor V activation: essential role of the …	X-RAY DIFFRACTION	1.7
3S9C	Russell’s viper venom serine proteinase, RVV-V in complex with the fragment (residues …	X-RAY DIFFRACTION	1.8
1CZT	CRYSTAL STRUCTURE OF THE C2 DOMAIN OF HUMAN COAGULATION FACTOR V	X-RAY DIFFRACTION	1.87
1CZS	CRYSTAL STRUCTURE OF THE C2 DOMAIN OF HUMAN COAGULATION FACTOR V: COMPLEX WITH …	X-RAY DIFFRACTION	1.9
1CZV	CRYSTAL STRUCTURE OF THE C2 DOMAIN OF HUMAN COAGULATION FACTOR V: DIMERIC CRYSTAL FORM	X-RAY DIFFRACTION	2.4
3P70	Structural basis of thrombin-mediated factor V activation: essential role of the …	X-RAY DIFFRACTION	2.55
9T00	Crystal structure of prethrombin-2 with a peptide corresponding to the C-terminus of the …	X-RAY DIFFRACTION	2.8
36JB	Coagulation factor V DTQQ, membrane-bound, on Ptd-choline : Ptd-serine 75:25 vesicles	ELECTRON MICROSCOPY	2.9
9MOV	Cryo-EM structure of factor Va bound to activated protein C	ELECTRON MICROSCOPY	3
8TN9	Structural architecture of the acidic region of the B domain of coagulation factor V	ELECTRON MICROSCOPY	3.05
9TLE	Structure of human prothrombinase with prothrombin	ELECTRON MICROSCOPY	3.1
9TLG	Structure of human prothrombinase with meizothrombin	ELECTRON MICROSCOPY	3.1
9MOT	Cryo-EM structure of factor Va bound to activated protein C	ELECTRON MICROSCOPY	3.15
8FDG	Cryo-EM structure of coagulation factor V short	ELECTRON MICROSCOPY	3.2
9I2H	A 3.3 angstrom cryo-EM structure of an engineered high-affinity human prothrombinase …	ELECTRON MICROSCOPY	3.28
7KVE	Cryo-EM structure of human Factor V at 3.3 Angstrom resolution	ELECTRON MICROSCOPY	3.3
36JA	Coagulation factor V DTQQ (B-domain region 811-1491 truncated, R709Q, R1545Q) in …	ELECTRON MICROSCOPY	3.4
7KVF	Cryo-EM structure of human Factor V at 3.6 Angstrom resolution	ELECTRON MICROSCOPY	3.6
9YQ8	Cryo-EM complex of meizothrombinDESF1, factor Xa, and factor Va	ELECTRON MICROSCOPY	3.84
7TPP	Cryo-em structure of human prothrombin:prothrombinase at 4.1 Angstrom resolution	ELECTRON MICROSCOPY	4.1
7KXY	Cryo-EM structure of human Factor Va at 4.4 Angstrom resolution	ELECTRON MICROSCOPY	4.4
9CTH	Preliminary map of the Prothrombin-prothrombinase complex on nano discs	ELECTRON MICROSCOPY	6.47

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P12259-F1	62.57	0.22

Human Protein Atlas

Protein class: Predicted secreted proteins, Plasma proteins, Candidate cardiovascular disease genes, Disease related genes, FDA approved drug targets, Biotech drugs, Human disease related genes

Protein evidence: Evidence at protein level

Subcellular location (HPA, imaging): golgi apparatus

Antibody reliability (HPA): IF approved

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Catalytic / active sites (7)

Position	Role
334–335	cleavage; by activated protein c
534–535	cleavage; by activated protein c
707–708	cleavage; by activated protein c
737–738	cleavage; by thrombin
1022–1023	cleavage; by activated protein c
1046–1047	cleavage; by thrombin
1573–1574	cleavage; by thrombin

Ligand- & substrate-binding residues (4)

Position	Role
139	Ca(2+)
140	Ca(2+)
1843	Cu cation
1845	Cu cation

Post-translational modifications (9)

Type	Positions
Phosphothreonine	640
Sulfotyrosine	693, 724, 726, 1522, 1538, 1543, 1593
Phosphoserine	859

Disulfide bonds (7)

Type	Positions
Disulfide bond	167–193, 248–329, 500–526, 603–684, 1725–1751, 1907–2061, 2066–2221

Glycosylation sites (27)

Type	Positions
N-linked (glcnac…) asparagine	821, 938, 977, 1074, 1083, 1103, 1106, 1479, 1499, 1559, 1703, 2010, 2209, 51, 55, 239, 297, 382, 460, 468, 554, 741, 752, 760, 776, 782
O-linked (galnac…) threonine	805

Function

Pathways and Gene Ontology

Reactome pathways

10 curated (TAS) of 22; 2 disease pathways. Curated-first; evidence = TAS (manually curated) vs IEA (electronic inference).

22 pathways:

ID	Pathway	Evidence
R-HSA-9930479	Defective cleavage of FV variant at R334 ⚕	curated
R-HSA-9930449	Defective cleavage of FV variant at a.a.534 ⚕	curated
R-HSA-9769743	Amplification and propagation of coagulation cascade	curated
R-HSA-204005	COPII-mediated vesicle transport	curated
R-HSA-5694530	Cargo concentration in the ER	curated
R-HSA-9769735	Initiation of coagulation cascade	curated
R-HSA-114608	Platelet degranulation	curated
R-HSA-8957275	Post-translational protein phosphorylation	curated
R-HSA-381426	Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)	curated
R-HSA-9769739	Regulation of clotting cascade	curated
R-HSA-446203	Asparagine N-linked glycosylation	—
R-HSA-199977	ER to Golgi Anterograde Transport	—
R-HSA-109582	Hemostasis	—
R-HSA-199991	Membrane Trafficking	—
R-HSA-392499	Metabolism of proteins	—
R-HSA-76002	Platelet activation, signaling and aggregation	—
R-HSA-597592	Post-translational protein modification	—
R-HSA-140875		—
R-HSA-140877		—
R-HSA-76005	Response to elevated platelet cytosolic Ca2+	—
R-HSA-948021	Transport to the Golgi and subsequent modification	—
R-HSA-5653656	Vesicle-mediated transport	—

MSigDB gene sets: 323 (showing top): GOBP_PROTEIN_ACTIVATION_CASCADE, GOBP_CIRCULATORY_SYSTEM_PROCESS, GOCC_SECRETORY_GRANULE, REACTOME_PLATELET_ACTIVATION_SIGNALING_AND_AGGREGATION, REACTOME_MEMBRANE_TRAFFICKING, GOBP_WOUND_HEALING, GOBP_PROTEIN_MATURATION, GOBP_RESPONSE_TO_KETONE, HOSHIDA_LIVER_CANCER_SUBCLASS_S3, TGCTGAY_UNKNOWN, GOCC_COATED_VESICLE, HSIAO_LIVER_SPECIFIC_GENES, MODULE_99, GOBP_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND, FONTAINE_PAPILLARY_THYROID_CARCINOMA_DN

GO Biological Process (4): blood coagulation (GO:0007596), blood circulation (GO:0008015), response to vitamin K (GO:0032571), hemostasis (GO:0007599)

GO Molecular Function (3): copper ion binding (GO:0005507), protein binding (GO:0005515), metal ion binding (GO:0046872)

GO Cellular Component (9): extracellular region (GO:0005576), endoplasmic reticulum lumen (GO:0005788), plasma membrane (GO:0005886), membrane (GO:0016020), COPII-coated ER to Golgi transport vesicle (GO:0030134), platelet alpha granule (GO:0031091), platelet alpha granule lumen (GO:0031093), endoplasmic reticulum-Golgi intermediate compartment membrane (GO:0033116), extracellular vesicle (GO:1903561)

Reactome top-level categories

10 top-level categories:

Category	Pathways
Coagulation pathway	3
ER to Golgi Anterograde Transport	2
Metabolism of proteins	2
Post-translational protein modification	2
Defective FV causes thrombophilia	2
Response to elevated platelet cytosolic Ca2+	1
Membrane Trafficking	1
Transport to the Golgi and subsequent modification	1
Vesicle-mediated transport	1
Hemostasis	1

GO top-level categories

24 GO namespaces:

Category	Terms
cellular anatomical structure	2
hemostasis	1
wound healing	1
coagulation	1
circulatory system process	1
response to vitamin	1
response to ketone	1
regulation of body fluid levels	1
transition metal ion binding	1
binding	1
cation binding	1
endoplasmic reticulum	1
intracellular organelle lumen	1
membrane	1
cell periphery	1
coated vesicle	1
secretory granule	1
platelet alpha granule	1
secretory granule lumen	1
endoplasmic reticulum-Golgi intermediate compartment	1
bounding membrane of organelle	1
extracellular region	1
vesicle	1
extracellular membrane-bounded organelle	1

Experimentally-supported GO annotations

GO terms backed by direct experimental evidence (ECO experimental codes) — 2 of 17 annotations. The rest are phylogenetic / computational / electronic (IEA).

2 experimentally-supported GO terms:

GO term	NS	Evidence
extracellular vesicle	CC	high-throughput assay
membrane	CC	high-throughput assay

Protein interactions and networks

STRING

showing 15 of 1,082 interactions by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
F5	F2	P00734	878
F5	MTHFR	P42898	819
F5	STOX1	Q6ZVD7	677
F5	F3	P13726	613
F5	F10	P00742	606
F5	SELE	P16111	601
F5	C4BPB	P20851	593
F5	SELL	P14151	589
F5	SELP	P16109	584
F5	C4A	P01028	579
F5	SERPINC1	P01008	571
F5	PGA4	P00790	568
F5	PGA4	P00790	555
F5	EPHX1	P07099	555
F5	F7	P08709	547

IntAct

Human interaction partners of F5 in IntAct, one row per partner (best MIscore; records = supporting IntAct interaction records).

3 partners by confidence:

Partner	Interaction type	MIscore	Records
OLR1	physical association	0.590	2
FAM20C	phosphorylation reaction	0.440	1
BJLF1	physical association	0.370	1

BioGRID (41 interactions; top human partners by supporting records): MMRN1 (Affinity Capture-MS; 3 records), KLRG2 (Affinity Capture-MS; 2 records), OLR1 (Affinity Capture-MS; 2 records), PROS1 (Reconstituted Complex; 2 records), TNFSF8 (Affinity Capture-MS; 2 records), ANLN (Affinity Capture-MS), AP2M1 (Cross-Linking-MS (XL-MS)), BAD (Proximity Label-MS), CALR (Affinity Capture-Western), CAND1 (Affinity Capture-MS), CCDC8 (Affinity Capture-MS), CLIC1 (Affinity Capture-MS), DCAF4 (Proximity Label-MS), DCAF5 (Proximity Label-MS), DCAF7 (Proximity Label-MS)

SIGNOR signaling

showing 8 of 19 signaling interactions:

A	Effect	B	Mechanism
PROC	“down-regulates activity”	F5	cleavage
F2	“up-regulates activity”	F5
CSNK2A1	“down-regulates activity”	F5	phosphorylation
F5	“form complex”	“Factor Va-Xa”	binding
F2	“up-regulates activity”	F5	cleavage
ELANE	“up-regulates activity”	F5	cleavage
ELANE	“down-regulates activity”	F5	cleavage
“Factor FVIIa:TF”	“down-regulates activity”	F5	cleavage

Disease & clinical

Genetic variants

Variant evidence for F5: 1,487 ClinVar records (101 pathogenic / likely pathogenic); 1 PharmGKB clinical annotation; 40 GWAS associations. Per-variant detail is on Sugi Variant.

ClinVar

1,487 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	61
Likely pathogenic	40
Uncertain significance	527
Likely benign	559
Benign	113

Top pathogenic / likely-pathogenic (15)

Showing the 15 best-reviewed of 101 pathogenic / likely-pathogenic ClinVar records, ranked by ClinVar review status (expert panel → multiple submitters → single submitter), then by number of submitting labs.

Variant ID	HGVS	Classification	Review	Submitters
2734021	NM_000130.5(F5):c.3088C>T (p.Arg1030Ter)	Pathogenic	criteria provided, multiple submitters, no conflicts	4
430053	NM_000130.5(F5):c.5037dup (p.Ser1680fs)	Pathogenic	criteria provided, multiple submitters, no conflicts	3
2734024	NM_000130.5(F5):c.1258G>T (p.Gly420Cys)	Pathogenic	criteria provided, multiple submitters, no conflicts	2
2734026	NM_000130.5(F5):c.286G>C (p.Asp96His)	Pathogenic	criteria provided, multiple submitters, no conflicts	2
2887062	NM_000130.5(F5):c.4962_4971+3del	Likely pathogenic	criteria provided, multiple submitters, no conflicts	2
3376900	NM_000130.5(F5):c.6658G>T (p.Gly2220Cys)	Likely pathogenic	criteria provided, multiple submitters, no conflicts	2
650	NM_000130.5(F5):c.2401C>T (p.Gln801Ter)	Pathogenic	criteria provided, single submitter	2
1452773	NM_000130.5(F5):c.1600C>T (p.Arg534Ter)	Pathogenic	criteria provided, single submitter	2
627332	NM_000130.5(F5):c.5365C>T (p.Arg1789Ter)	Pathogenic	criteria provided, single submitter	1
978216	NM_000130.5(F5):c.4096del (p.Leu1366fs)	Pathogenic	criteria provided, single submitter	1
1098461	NM_000130.5(F5):c.2615del (p.Arg872fs)	Pathogenic	criteria provided, single submitter	1
1703833	NM_000130.5(F5):c.5403del (p.Lys1801fs)	Pathogenic	criteria provided, single submitter	1
2444143	NM_000130.5(F5):c.2521C>T (p.Gln841Ter)	Pathogenic	criteria provided, single submitter	1
2578588	NM_000130.5(F5):c.4647dup (p.Tyr1550fs)	Pathogenic	criteria provided, single submitter	1
2701935	NM_000130.5(F5):c.3322del (p.Thr1108fs)	Pathogenic	criteria provided, single submitter	1

Per-variant reference — Sugi Variant

Explore F5’s pathogenic and likely-pathogenic variants individually — each with its ClinVar classification and conditions, applied ACMG criteria (ClinGen expert panel, where curated), the calibrated in-silico predictors (AlphaMissense, REVEL, SaProt, conservation), gnomAD frequency, and the predictor-disagreement QC signal — on Sugi Variant.

SpliceAI

Top 10 splice-impact sites by Δscore (adjacent positions with the same effect merged into one range; 20 predictions of 2,251):

Position(s)	Effect	Δscore	Sites
1:169518437	donor_gain	1.0000
1:169520665–169520666	acceptor_loss	1.0000	6
1:169523195–169523196	donor_loss	1.0000	4
1:169523205	donor_gain	1.0000
1:169523218	donor_gain	1.0000
1:169523353–169523354	acceptor_loss	1.0000	3
1:169524911	acceptor_gain	1.0000
1:169525864	donor_gain	1.0000
1:169525932	donor_gain	1.0000
1:169527939	donor_gain	1.0000

AlphaMissense

3,170 missense substitutions predicted likely pathogenic (of 14,814 scored), across 840 residues. Top 20 hotspot residues, ranked by the number of likely-pathogenic substitutions (of those reachable by a single-nucleotide change), then by mean score:

Residue	Likely-pathogenic substitutions	Mean am_pathogenicity	Max am_pathogenicity
D429	8	0.973	0.995
N437	8	0.963	0.994
F435	8	0.953	0.997
N104	8	0.952	0.992
D514	8	0.952	0.988
F1660	8	0.935	0.994
N1662	8	0.931	0.988
D181	8	0.917	0.973
F1773	8	0.907	0.976
F679	8	0.906	0.992
D1739	8	0.904	0.975
F602	8	0.896	0.986
F218	8	0.894	0.976
F102	8	0.893	0.993
F2178	8	0.881	0.966
D541	8	0.864	0.944
F551	8	0.863	0.971
D639	8	0.861	0.965
D681	8	0.857	0.957
D497	8	0.854	0.935

HPA cancer prognostics

RNA cancer specificity: Cancer enriched (Liver Hepatocellular Carcinoma)

Human Protein Atlas survival analysis — favorable = higher expression predicts better survival.

2 prognostic cancer types:

Cancer	Prognostic	p-value
Kidney Renal Papillary Cell Carcinoma (TCGA)	unfavorable	7.66e-05
Liver Hepatocellular Carcinoma (TCGA)	favorable	0.000955

Disease associations

OMIM: gene MIM:612309 | disease phenotypes: MIM:227400, MIM:188055, MIM:614389, MIM:600880

GenCC curated gene-disease

3 curated gene-disease records:

Disease	Classification	Inheritance	Records
thrombophilia due to activated protein C resistance	Strong	Autosomal dominant	3
congenital factor V deficiency	Strong	Autosomal recessive	3
East Texas bleeding disorder	Supportive	Autosomal dominant

ClinGen Gene-Disease Validity

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

2 validity classifications:

Disease	Classification	Inheritance
thrombophilia due to activated protein C resistance	Definitive	AD
congenital factor V deficiency	Definitive	AR

Genomics England panels (PanelApp)

Clinical diagnostic gene panels including this gene (4 panels, 4 green/diagnostic-grade). Confidence: green = diagnostic, amber = moderate.

4 panels:

Panel	Rating
Bleeding and platelet disorders	green
Factor V deficiency	green
Inherited bleeding disorders	green
Thrombophilia with a likely monogenic cause	green

Mondo (7): factor V deficiency (MONDO:0020586), congenital factor V deficiency (MONDO:0009210), thrombophilia due to activated protein C resistance (MONDO:0008560), pregnancy loss, recurrent, susceptibility to, 1 (MONDO:0013727), Budd-Chiari syndrome (MONDO:0010947), ischemic stroke (MONDO:1060198), East Texas bleeding disorder (MONDO:0011615)

Orphanet (2): Congenital factor V deficiency (Orphanet:326), Budd-Chiari syndrome (Orphanet:131)

HPO phenotypes

60 phenotypes (HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000007	Autosomal recessive inheritance
HP:0000083	Renal insufficiency
HP:0000132	Menorrhagia
HP:0000225	Gingival bleeding
HP:0000421	Epistaxis
HP:0000790	Hematuria
HP:0000952	Jaundice
HP:0000978	Bruising susceptibility
HP:0001082	Cholecystitis
HP:0001297	Stroke
HP:0001394	Cirrhosis
HP:0001402	Hepatocellular carcinoma
HP:0001409	Portal hypertension
HP:0001426	Non-Mendelian inheritance
HP:0001541	Ascites
HP:0001744	Splenomegaly
HP:0001824	Weight loss
HP:0001892	Abnormal bleeding
HP:0001934	Persistent bleeding after trauma
HP:0001945	Fever
HP:0002024	Malabsorption
HP:0002027	Abdominal pain
HP:0002040	Esophageal varix
HP:0002105	Hemoptysis
HP:0002170	Intracranial hemorrhage
HP:0002239	Gastrointestinal hemorrhage
HP:0002240	Hepatomegaly
HP:0002480	Hepatic encephalopathy
HP:0002573	Hematochezia
HP:0002586	Peritonitis
HP:0002625	Deep venous thrombosis
HP:0002639	Budd-Chiari syndrome
HP:0002910	Elevated circulating hepatic transaminase concentration
HP:0003010	Prolonged bleeding time
HP:0003155	Elevated circulating alkaline phosphatase concentration
HP:0003225	Reduced coagulation factor V activity
HP:0003581	Adult onset
HP:0003645	Prolonged partial thromboplastin time
HP:0004846	Prolonged bleeding after surgery
HP:0005214	Intestinal obstruction
HP:0005244	Gastrointestinal infarctions
HP:0005261	Joint hemorrhage
HP:0005542	Prolonged whole-blood clotting time
HP:0006298	Prolonged bleeding after dental extraction
HP:0006554	Acute hepatic failure
HP:0007420	Spontaneous hematomas
HP:0008151	Prolonged prothrombin time
HP:0011462	Young adult onset
HP:0011890	Prolonged bleeding following procedure
HP:0011891	Post-partum hemorrhage
HP:0012175	Resistance to activated protein C
HP:0030137	Prolonged bleeding following circumcision
HP:0030140	Oral cavity bleeding
HP:0030243	Hepatic vein thrombosis
HP:0033045	Bipedal edema
HP:0100602	Preeclampsia
HP:0100608	Metrorrhagia
HP:0100724	Hypercoagulability
HP:0200067	Recurrent spontaneous abortion

GWAS associations

showing 30 of 40 associations:

Study	Trait	p-value
GCST009097_1	Venous thromboembolism	1e-300
GCST009030_26	Venous thromboembolism	1e-188
GCST003390_4	Thrombosis	4e-137
GCST002808_4	Venous thromboembolism	1e-96
GCST006017_7	Prothrombin time	2e-87
GCST001378_2	Hemostatic factors and hematological phenotypes	4e-80
GCST002012_1	Venous thromboembolism	4e-51
GCST004256_1	Venous thromboembolism	7e-50
GCST006018_6	Activated partial thromboplastin time	4e-39
GCST011369_3	Iron status biomarkers (ferritin levels)	7e-37
GCST009030_27	Venous thromboembolism	3e-29
GCST011359_3	Venous thromboembolism	5e-27
GCST001253_1	Venous thromboembolism	2e-26
GCST001557_1	Venous thromboembolism	2e-22
GCST90000584_2	Inflammatory biomarkers (multivariate analysis)	6e-20
GCST011359_8	Venous thromboembolism	1e-16
GCST004428_27	Stem cell growth factor beta levels	1e-15
GCST001049_7	D-dimer levels	2e-14
GCST009411_3	Optic disc area	1e-12
GCST008474_3	Peripheral artery disease	2e-12
GCST009244_5	Cytokine network levels (multivariate analysis)	7e-12
GCST008461_2	Plasma factor V levels in venous thrombosis	8e-12
GCST002808_5	Venous thromboembolism	3e-11
GCST007924_11	Medication use (antithrombotic agents)	3e-11
GCST012139_2	D-dimer levels in HIV infection	4e-11
GCST009724_12	Vertical cup-disc ratio (multi-trait analysis)	1e-10
GCST009462_105	Optic disc size	2e-10
GCST001530_6	Hippocampal atrophy	1e-9
GCST004075_23	Vertical cup-disc ratio	2e-9
GCST004075_24	Vertical cup-disc ratio	2e-9

EFO canonical traits (from GWAS)

19 canonical traits:

EFO ID	Trait name
EFO:0004507	D dimer measurement
EFO:0004503	hematological measurement
EFO:0005039	hippocampal atrophy
EFO:0004761	uric acid measurement
EFO:0003907	deep vein thrombosis
EFO:0006939	cup-to-disc ratio measurement
EFO:0008390	prothrombin time measurement
EFO:0009925	Antithrombotic agent use measurement
EFO:0004750	interleukin 10 measurement
EFO:0004753	interleukin 12 measurement
EFO:0004810	interleukin-6 measurement
EFO:0008165	interferon gamma measurement
EFO:0008174	interleukin 17 measurement
EFO:0008184	interleukin 4 measurement
EFO:0008293	stromal cell-derived factor 1 alpha measurement
EFO:0010977	macrovascular complications of diabetes
EFO:0006334	total iron binding capacity
EFO:0004459	ferritin measurement
EFO:0004872	inflammatory biomarker measurement

MeSH disease descriptors

4 disease descriptors:

Descriptor	Name	Tree numbers
D020016	Activated Protein C Resistance	C15.378.100.100.037; C15.378.100.141.036; C15.378.925.050; C16.320.099.037
D006502	Budd-Chiari Syndrome	C06.552.347; C14.907.355.830.925.275
D005166	Factor V Deficiency	C15.378.100.100.300; C15.378.100.141.300; C15.378.463.300; C16.320.099.300
C565275	Bleeding Disorder, East Texas Type *(supp.)*

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (3): CHEMBL3618 (SINGLE PROTEIN), CHEMBL5482991 (PROTEIN COMPLEX), CHEMBL6066543 (PROTEIN COMPLEX)

Drugs by curated mechanism of action (ChEMBL)

Drugs whose curated ChEMBL mechanism of action targets the F5 protein itself — single-protein targets only (drugs acting on a protein family or complex that merely includes it are excluded). Includes antibodies and oligonucleotides that bioactivity screening does not capture.

1 curated-mechanism drugs:

Drug	Modality	Max phase
DROTRECOGIN ALFA (ACTIVATED)	Protein	4

Molecules with ChEMBL bioactivity

Phase ≥1, by development phase (incl. off-target/promiscuous compounds). Patent mentions across the top 20 by phase: 2,787 (via chembl_molecule»patent_compound — counts attach to the compound, not the gene–compound relationship, so off-target/promiscuous molecules can dominate).

2 molecules by phase:

Molecule	Name	Phase	Patents
CHEMBL1269025	EDOXABAN	4	2,478
CHEMBL206335	RAZAXABAN	2	309

PharmGKB: 1 entry (CPIC guideline: no)

PharmGKB clinical annotations

1 annotations by evidence level (1 strongest → 4):

Variant	Association	Level	Drugs	Phenotypes
rs6025	Toxicity	2B	hormonal contraceptives for systemic use	Thrombotic disease

PharmGKB variants

1 variants:

Variant	Genes	Level	Score	#Clin annots	Drugs
rs6025	F5	2B	8.50	1	hormonal contraceptives for systemic use

PharmGKB variant annotations

Per-publication pharmacogenomic findings for this gene (significant associations).

14 published findings:

Variant	Drug(s)	Category	Finding	PMID
rs6025	hormonal contraceptives for systemic use	Toxicity	Genotype CT is associated with increased risk of Venous Thrombosis when treated with hormonal contraceptives for systemic use in women as compared to genotype CC.	PMID:12069454
rs6025	hormonal contraceptives for systemic use	Toxicity	Genotype CT is associated with increased risk of Stroke when treated with hormonal contraceptives for systemic use in women as compared to genotype CC.	PMID:16769590
rs6018	warfarin	Toxicity	Allele G is associated with risk of Hemorrhage when treated with warfarin as compared to allele T.	PMID:19752777
rs6025	hormonal contraceptives for systemic use	Toxicity	Allele T is associated with increased risk of Venous Thrombosis when treated with hormonal contraceptives for systemic use in women as compared to allele C.	PMID:28750087
rs6025	“““Ace Inhibitors, Plain””, ““Angiotensin II Antagonists”””	Toxicity	Genotypes CT + TT is associated with increased risk of Angioedema when treated with Ace Inhibitors, Plain or Angiotensin II Antagonists as compared to genotype CC.	PMID:32496628
rs149389480	“““Ace Inhibitors, Plain””, ““Angiotensin II Antagonists”””	Toxicity	Genotype AG is associated with increased risk of Angioedema when treated with Ace Inhibitors, Plain or Angiotensin II Antagonists.	PMID:32496628
rs200157005	“““Ace Inhibitors, Plain””, ““Angiotensin II Antagonists”””	Toxicity	Genotype AG is associated with increased risk of Angioedema when treated with Ace Inhibitors, Plain or Angiotensin II Antagonists.	PMID:32496628
rs143509841	“““Ace Inhibitors, Plain””, ““Angiotensin II Antagonists”””	Toxicity	Genotype GT is associated with increased risk of Angioedema when treated with Ace Inhibitors, Plain or Angiotensin II Antagonists.	PMID:32496628
rs140530655	“““Ace Inhibitors, Plain””, ““Angiotensin II Antagonists”””	Toxicity	Genotype CT is associated with increased risk of Angioedema when treated with Ace Inhibitors, Plain or Angiotensin II Antagonists.	PMID:32496628
rs368967198	“““Ace Inhibitors, Plain””, ““Angiotensin II Antagonists”””	Toxicity	Genotype AG is associated with increased risk of Angioedema when treated with Ace Inhibitors, Plain or Angiotensin II Antagonists.	PMID:32496628
rs6025	asparaginase	Toxicity	Genotype CT is associated with increased risk of venous thromboembolism when treated with asparaginase in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to genotype CC.	PMID:36946317
rs6025	hormonal contraceptives for systemic use	Toxicity	Allele T is associated with increased risk of venous thromboembolism when treated with hormonal contraceptives for systemic use in women as compared to allele C.	PMID:37734636
rs6025		Other	Allele C is associated with increased likelihood of Abortion, Habitual as compared to allele T.	PMID:38057822
rs6025	hormonal contraceptives for systemic use	Toxicity	Allele T is associated with increased likelihood of venous thromboembolism when treated with hormonal contraceptives for systemic use as compared to allele C.	PMID:16595080

GtoPdb / IUPHAR curated pharmacology

(IUPHAR/BPS Guide to Pharmacology — expert-curated)

Target class: enzyme — Blood coagulation components

Binding affinities (BindingDB)

17 measured of 31 human assays (31 total across all organisms); most potent 17 below. Values come from heterogeneous assays and are not directly comparable.

Ligand	Measure	Value	Patent
1-(4-methoxyphenyl)-7-oxo-6-[4-(2-oxopiperidin-1-yl)phenyl]-1H,4H,5H,6H,7H-pyrazolo[3,4-c]pyridine-3-carboxamide	IC50	2.3 nM
Edoxaban	IC50	3.4 nM
1-(4-methoxyphenyl)-7-oxo-6-[1-(2-oxopyrrolidin-3-yl)piperidin-4-yl]-4,5-dihydropyrazolo[5,4-c]pyridine-3-carboxamide	KI	30 nM	US-9938272: Hydrazine compound as blood coagulation factor Xa inhibitor
1-(4-Methoxyphenyl)-N5-(1-(3-oxomorpholino)piperidin-4-yl)-1H-pyrazole-3,5-dicarboxamide	KI	30 nM	US-9938272: Hydrazine compound as blood coagulation factor Xa inhibitor
3-(7-Oxo-6-(1-(3-oxomorpholino)piperidin-4-yl)-3-(trifluoromethyl)-4,5,6,7-tetrahydro-1H-pyrazolo[3,4-c]pyridin-1-yl)benzamide	KI	30 nM	US-9938272: Hydrazine compound as blood coagulation factor Xa inhibitor
3-[5-[(5-chlorothiophen-2-yl)methylamino]-1-(2,2-dimethylpropanoyl)pyrazol-3-yl]-3H-pyridin-2-one	IC50	380 nM	US-9687479: Multisubstituted aromatic compounds as serine protease inhibitors
7-Oxo-6-(1-(3-oxomorpholino)piperidin-4-yl)-1-(4-(trifluoromethoxy)phenyl)-4,5,6,7-tetr a hydro-1H-pyrazolo[3,4-c]pyridine-3-carboxamide	KI	525 nM	US-9938272: Hydrazine compound as blood coagulation factor Xa inhibitor
[5-[(5-chlorothiophen-2-yl)methylamino]-3-pyridin-2-ylpyrazol-1-yl]-(2-methoxyphenyl)methanone	IC50	670 nM	US-9687479: Multisubstituted aromatic compounds as serine protease inhibitors
CHEMBL1162108	IC50	1810 nM
CHEMBL1162109	IC50	3800 nM
CHEMBL410427	IC50	4800 nM
CHEMBL265687	IC50	6710 nM
CHEMBL410426	IC50	7400 nM
CHEMBL1614804	IC50	14000 nM
CHEMBL261865	IC50	14100 nM
CHEMBL1162110	IC50	14100 nM
CHEMBL259312	IC50	18600 nM

ChEMBL bioactivities

18 potent at pChembl≥5 of 32 total, top 18 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
8.53	Ki	2.98	nM	EDOXABAN
7.52	Ki	30	nM	CHEMBL5919505
7.52	Ki	30	nM	CHEMBL5912703
7.52	Ki	30	nM	CHEMBL6013950
6.28	Ki	525	nM	CHEMBL5877639
5.74	IC50	1810	nM	CHEMBL1162108
5.60	IC50	2500	nM	CHEMBL259312
5.46	IC50	3510	nM	CHEMBL259312
5.42	IC50	3800	nM	CHEMBL1162109
5.32	IC50	4800	nM	CHEMBL410427
5.26	IC50	5530	nM	CHEMBL410427
5.24	Ki	5700	nM	CHEMBL436766
5.17	IC50	6710	nM	CHEMBL265687
5.13	IC50	7400	nM	CHEMBL410426
5.07	IC50	8550	nM	CHEMBL410426
5.07	IC50	8560	nM	CHEMBL265687
5.05	IC50	8950	nM	CHEMBL410426
5.04	IC50	9190	nM	CHEMBL265687

PubChem BioAssay actives

14 with measured affinity, of 47 total; 8 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.

Compound	Assay	Type	Value	Unit
Edoxaban	2033260: Inhibition of activated human factor X/activated human factor V complex derived prothrombinase using S-2238 as substrate	ki	0.0030	uM
3-[5-[(E)-[1-(4-bromophenyl)-3-methyl-5-oxopyrazol-4-ylidene]methyl]furan-2-yl]benzoic acid	328629: Inhibition of factor 5a-mediated prothrombin activation in human plasma by prothrombinase assay	ic50	1.8100	uM
4-[[2-ethoxy-4-[(E)-[1-[(2-fluorophenyl)methyl]-2,5-dioxoimidazolidin-4-ylidene]methyl]phenoxy]methyl]benzoic acid	328628: Inhibition of human factor 5a light chain binding to immobilized phospholipid by surface plasmon resonance assay	ic50	2.5000	uM
(2R)-1-(3-phenyl-4,5-dihydropyrazolo[4,5-a]carbazol-10-yl)-3-(propan-2-ylamino)propan-2-ol	328629: Inhibition of factor 5a-mediated prothrombin activation in human plasma by prothrombinase assay	ic50	3.8000	uM
(5E)-1-(1,3-benzodioxol-5-yl)-5-[[5-(2-methoxy-4-nitrophenyl)furan-2-yl]methylidene]-1,3-diazinane-2,4,6-trione	328628: Inhibition of human factor 5a light chain binding to immobilized phospholipid by surface plasmon resonance assay	ic50	4.8000	uM
1-(3-amino-1,2-benzoxazol-5-yl)-N-[2-fluoro-4-[2-[[(3R)-3-hydroxypyrrolidin-1-yl]methyl]phenyl]phenyl]-3-(trifluoromethyl)pyrazole-5-carboxamide	263266: Binding affinity to human aPC	ki	5.7000	uM
3-[(4Z)-3-methyl-4-[[5-(4-nitrophenyl)furan-2-yl]methylidene]-5-oxopyrazol-1-yl]benzoic acid	328630: Inhibition of human recombinant factor 5a C2 domain binding to immobilized phospholipid by surface plasmon resonance assay	ic50	6.7100	uM
(4Z)-1-(3-chlorophenyl)-4-[[5-(4,5-dimethyl-2-nitrophenyl)furan-2-yl]methylidene]pyrazolidine-3,5-dione	328630: Inhibition of human recombinant factor 5a C2 domain binding to immobilized phospholipid by surface plasmon resonance assay	ic50	7.4000	uM

CTD chemical–gene interactions

73 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, affects cotreatment, increases expression	5
mercuric bromide	increases expression, affects cotreatment	2
entinostat	increases expression, affects cotreatment	2
Cadmium	increases abundance, affects binding, decreases expression	2
Phenylmercuric Acetate	affects cotreatment, increases expression	2
Tretinoin	decreases response to substance, affects expression	2
Cyclosporine	decreases expression	2
Aflatoxin B1	affects expression, decreases methylation	2
p-Chloromercuribenzoic Acid	affects cotreatment, increases expression	2
ginger extract	decreases reaction, increases abundance, increases expression	1
dicrotophos	increases expression	1
2,4,6-tribromophenol	increases expression	1
propionaldehyde	decreases expression	1
bisphenol A	decreases reaction, increases abundance, increases expression	1
decabromobiphenyl ether	increases expression	1
trichostatin A	increases expression	1
beta-lapachone	decreases expression	1
sodium arsenite	decreases expression	1
butyraldehyde	decreases expression	1
nickel chloride	decreases expression	1
ochratoxin A	decreases expression	1
pentanal	decreases expression	1
2,3-dimethoxy-1,4-naphthoquinone	decreases expression	1
di-n-butylphosphoric acid	affects expression	1
CGP 52608	affects binding, increases reaction	1
2-palmitoylglycerol	increases expression	1
ethinyl estradiol-desogestrel combination	decreases expression, increases reaction	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	increases expression, affects cotreatment	1
abrine	decreases expression	1
dorsomorphin	affects cotreatment, increases expression	1

ChEMBL screening assays

10 unique, capped per target: 10 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL5355154	Binding	Inhibition of activated protein C (unknown origin) using S-2366 as chromogenic substrate preincubated for 10 mins followed by substrate addition and measured after 10 mins	Discovery of novel N-acylpyrazoles as potent and selective thrombin inhibitors. — *Eur J Med Chem*

Cellosaurus cell lines

9 cell lines: 8 transformed cell line, 1 finite cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_4W10	GM16028	Transformed cell line	Female
CVCL_5B01	GM14650	Transformed cell line	Female
CVCL_8A57	GM14899	Transformed cell line	Male
CVCL_8A58	GM20833	Transformed cell line	Male
CVCL_BT38	GM16643	Transformed cell line	Female
CVCL_BX21	GM25285	Transformed cell line	Male
CVCL_C7LI	GM27968	Finite cell line	Male
CVCL_C7LJ	GM27980	Transformed cell line	Male
CVCL_N218	GM14641	Transformed cell line	Female

Clinical trials (associated diseases)

Via MONDO — disease-level, not drug-specific.

showing 60 of 302 trials:

NCT	Phase	Status	Title
NCT00029224	Phase 4	COMPLETED	Treatment With Zoledronic Acid in Patients With Breast Cancer, Multiple Myeloma, and Prostate Cancer With Cancer Related Bone Lesions
NCT00035997	Phase 4	COMPLETED	Open-label Trial on the Effect of I.V. Zoledronic Acid 4 mg on Bone Density in Hormone Sensitive Prostate Cancer Patients With Bone Metastasis
NCT00063609	Phase 4	COMPLETED	The Effect of Zoledronic Acid on Bone Loss in Prostate Cancer Patients Undergoing Androgen Deprivation Therapy
NCT00103623	Phase 4	SUSPENDED	The Plenaxis® Experience Study
NCT00106392	Phase 4	COMPLETED	A Safety and Efficacy Study of Prograf in the Prevention of Erectile Dysfunction After Radical Prostatectomy
NCT00185029	Phase 4	UNKNOWN	MR-Lymphography and Lymph Node Staging in Prostate Cancer
NCT00199485	Phase 4	COMPLETED	Angelica Sinensis for the Treatment of Hot Flashes in Men Undergoing LHRH Therapy for Prostate Cancer
NCT00219219	Phase 4	COMPLETED	Zoledronic Acid in the Prevention of Skeletal-related Events in Hormone Refractory and Hormone-sensitive Prostate Cancer Patients With Bone Metastases
NCT00219271	Phase 4	COMPLETED	Effect Of Zoledronic Acid On Circulating And Bone Marrow-Residing Prostate Cancer Cells In Patients With Clinically Localized Prostate Cancer
NCT00237146	Phase 4	COMPLETED	Study to Evaluate Zoledronic Acid on Quality of Life and Skeletal-related Events as Adjuvant Treatment in Patients With Hormone-naïve Prostate Cancer and Bone Metastasis Who Have Undergone Orchiectomy
NCT00242554	Phase 4	COMPLETED	Open-label Phase IV Clinical Trial to Evaluate the Safety and Tolerability of Zoledronic Acid in Patients With Prostate Cancer and Bone Metastases
NCT00280098	Phase 4	COMPLETED	Docetaxel in the Treatment of Hormone Refractory Prostate Cancer
NCT00293696	Phase 4	COMPLETED	Casodex/Zoladex Biomarkers in Localised Prostate Cancer
NCT00334139	Phase 4	COMPLETED	Effect of Zoledronic Acid on Bone Metabolism in Patients With Bone Metastasis and Prostate or Breast Cancer
NCT00375765	Phase 4	COMPLETED	Effects On Dihydrotestosterone Regulated Gene Expression In Benign Prostatic Hyperplasia Or Prostate Cancer
NCT00391690	Phase 4	COMPLETED	Evaluation of Bone Markers as Diagnostic Tools for Early Detection of Bone Metastases in Patients With High Risk Prostate Cancer
NCT00422708	Phase 4	COMPLETED	Local Anesthesia for Prostate Biopsy
NCT00526331	Phase 4	COMPLETED	Evaluation of Arterial Pressure Based Cardiac Output for Goal-Directed Perioperative Therapy
NCT00590213	Phase 4	COMPLETED	Compare the Value of Prophylactic Versus Therapeutic Breast Radiotherapy in CASODEX
NCT00629330	Phase 4	TERMINATED	Dissemination of Prostate Cancer Screening to PCP’s in African American Communities
NCT00771966	Phase 4	COMPLETED	Radical Prostatectomy and Perioperative Fluid Therapy
NCT00805701	Phase 4	COMPLETED	Study Assessing The Efficacy And Safety Of Avodart (Dutasteride) At Improving Urinary Symptoms In Men With Prostate Cancer Who Are Undergoing Seed Implantation
NCT00859027	Phase 4	COMPLETED	Effect Of Risedronate On Bone Mass In Older Men Receiving Neoadjuvant Therapy For Prostate Cancer
NCT00906269	Phase 4	UNKNOWN	Can Hyperbaric Oxygen Improve Erectile Function Following Surgery for Prostate Cancer
NCT00953277	Phase 4	COMPLETED	Study of Nerve Reconstruction Using AVANCE in Subjects Who Undergo Robotic Assisted Prostatectomy for Treatment of Prostate Cancer
NCT00982800	Phase 4	COMPLETED	Does Postoperative Gabapentin Reduce Pain, Opioid Consumption and Anxiety and Have a Positive Effect on Health Related Quality of Life After Radical Prostatectomy?
NCT01083199	Phase 4	COMPLETED	Global Performance Evaluation of the AMS CONTINUUM™ Device
NCT01136226	Phase 4	COMPLETED	Evaluate Recovery of Testosterone for Patients Using Eligard
NCT01161563	Phase 4	COMPLETED	Randomized Crossover Trial to Assess the Tolerability of Gonadotropin Releasing Hormone (GnRH) Analogue Administration
NCT01230905	Phase 4	COMPLETED	Study to Monitor the Effects of Androgen Suppression Treatment on the Heart
NCT01296672	Phase 4	COMPLETED	3 Month Finasteride Challenge Test Can Significantly Improve the Performance of Screening for Prostate Cancer
NCT01365143	Phase 4	TERMINATED	Prospective Randomized Trial Comparing Robotic Versus Open Radical Prostatectomy
NCT01379742	Phase 4	UNKNOWN	Comparison of Between ThinSeed™ and OncoSeed™ for Permanent Prostate Brachytherapy
NCT01486563	Phase 4	COMPLETED	Hydroxyethyl Starch and Renal Function After Radical Prostatectomy
NCT01511874	Phase 4	COMPLETED	Efficacy and Safety Study of ELIGARD 22.5mg With Prostate Cancer
NCT01512472	Phase 4	TERMINATED	Firmagon (Degarelix) Intermittent Therapy
NCT01547416	Phase 4	COMPLETED	The Effect of Combined General/Epidural Anesthesia Versus General Anesthesia on Diaphragmatic Function
NCT01571544	Phase 4	COMPLETED	The Use of Thermal Suits as Preventing Hypothermia During Surgery
NCT01581749	Phase 4	UNKNOWN	Evaluation of Truebeam for Low-Intermediate Risk Prostate Cancer
NCT01649635	Phase 4	COMPLETED	Study of Cabazitaxel Combined With Prednisone and Prophylaxis of Neutropenia Complications in the Treatment of Patients With Metastatic Castration-resistant Prostate Cancer
NCT01673984	Phase 4	TERMINATED	GP Extended Action Triptorelin
NCT01753297	Phase 4	COMPLETED	A Study of Immediate 9 Months Adjuvant Hormone Therapy With Triptorelin 11.25 mg Versus Active Surveillance After Radical Prostatectomy in High Risk Prostate Cancer Patients.
NCT01794793	Phase 4	COMPLETED	Study to Allow Access to Pasireotide for Patients Benefiting From Pasireotide Treatment in Novartis-sponsored Studies
NCT01950871	Phase 4	TERMINATED	Prostate Guided Biopsy Study Evaluating the Diagnostic Performance of Prostate HistoScanning
NCT01995513	Phase 4	COMPLETED	Safety Study of Continued Enzalutamide Treatment In Prostate Cancer Patients
NCT02102646	Phase 4	COMPLETED	MRI Substudy; Metabolic Changes Due to Iatrogenic Hypogonadism
NCT02116582	Phase 4	COMPLETED	A Study to Evaluate Enzalutamide After Abiraterone in Metastatic Castration-Resistant Prostate Cancer
NCT02149628	Phase 4	COMPLETED	The Effect of Propofol Based Total Intravenous Anesthesia on Oxidative Stress and Nitric Oxide
NCT02405858	Phase 4	COMPLETED	A Study of Abiraterone Acetate in Metastatic Castration-Resistant Prostate Cancer Participants Who Responded Poorly to the First-line Combined Androgen Blockade Therapy
NCT02441517	Phase 4	TERMINATED	A Study of Enzalutamide Re-treatment in Metastatic Castration-resistant Prostate Cancer After Docetaxel and/or Cabazitaxel Treatment
NCT02441894	Phase 4	COMPLETED	Combination of Cabazitaxel With Prednisolone With Primary Prophylaxis With PEG-G-CSF in Treatment of Patients With Prostate Cancer
NCT02475057	Phase 4	COMPLETED	Endothelial Function in Prostate Cancer Patients on Degarelix vs. Luteinizing Hormone-Releasing Hormone Agonists
NCT02511665	Phase 4	UNKNOWN	Metformin And Longevity
NCT02651948	Phase 4	COMPLETED	Transperineal, MRI-guided, Prostate Biopsy
NCT02721433	Phase 4	COMPLETED	4-weekly Versus 12-weekly Administration of Bone-targeted Agents in Patients With Bone Metastases
NCT02726009	Phase 4	COMPLETED	A Trial to Evaluate Safety of Firmagon® (Degarelix) in Indian Patients Diagnosed With Advanced Hormone-dependent Prostate Cancer
NCT02749825	Phase 4	TERMINATED	Comparison of Trelstar Versus Lupron or Zoladex in Advanced Prostate Cancer
NCT02757365	Phase 4	UNKNOWN	Efficiency Study of Aspirin to Prevent the Occurrence of Prostate Cancer
NCT02773251	Phase 4	COMPLETED	The Effect of Guardix-solution for the Prevention of Postoperative Intestinal Adhesion and Intestinal Obstruction After Laparoscopic Pelvic Cavity Surgery
NCT02812186	Phase 4	COMPLETED	Deep Versus Moderate Neuromuscular Blockade During Laparoscopic Surgery

Predicted chemistry — Sugi Predict

The predicted patent-compound landscape for F5 across ~30M SureChEMBL compounds — explore on Sugi Predict.