PROX2

Summary

PROX2 (prospero homeobox 2, HGNC:26715) is a protein-coding gene on chromosome 14q24.3, encoding Prospero homeobox protein 2 (Q3B8N5). Transcription regulator.

Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to be located in chromatin. Predicted to be active in nucleus.

Source: NCBI Gene 283571 — automated summary from GO annotations (Alliance of Genome Resources).

At a glance

• GWAS associations: 8
• Clinical variants (ClinVar): 58 total
• GTEx eGene: eQTL in 13 tissues, sQTL in 0 (q < 0.05)
• Constraint (gnomAD): pLI 0.00 (LoF-tolerant), LOEUF 1.25 (unconstrained)
• MANE Select transcript: NM_001243007
• Notable: 58 clinical variants but no curated precision-oncology (CIViC) evidence yet

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:26715
Approved symbol	PROX2
Name	prospero homeobox 2
Location	14q24.3
Locus type	gene with protein product
Status	Approved
Aliases	FLJ36749
Ensembl gene	ENSG00000119608
Ensembl biotype	protein_coding
OMIM	615094
Entrez	283571

Gene structure

Transcript identifiers

Ensembl transcripts: 4 — 4 protein_coding

MANE Select: ENST00000556489

Transcript support level (Ensembl TSL; 1 = fully mRNA-supported): TSL 1: 1, TSL 4: 1

ENST00000556489, ENST00000619947, ENST00000673765, ENST00001133424

RefSeq mRNA: 3 — MANE Select: NM_001243007 NM_001080408, NM_001243007, NM_001384314

CCDS: CCDS45136, CCDS73663

Canonical transcript exons

ENST00000556489 — 6 exons

Exon	Start	End
ENSE00000808246	74856801	74856995
ENSE00002259765	74871103	74871237
ENSE00002435005	74858407	74858514
ENSE00002472312	74853033	74855302
ENSE00002513655	74862530	74864008
ENSE00003920954	74875895	74876145

Expression profiles

Bgee: expression breadth ubiquitous, 139 present calls, max score 78.67.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.0175 / max 8.2010, expressed in 6 samples.

Highest expression (Bgee): male germ line stem cell (sensu Vertebrata) in testis, pancreatic ductal cell, stromal cell of endometrium, granulocyte, bone marrow cell.

Genetic regulation across tissues (GTEx eQTL / sQTL)

PROX2 is an eGene in GTEx v10 — its expression is genetically regulated (eQTL) in 13 tissues and its splicing (sQTL) in 0 (q < 0.05). Strongest associations first; slope = normalized effect of the lead variant’s alternative allele.

13 significant tissue × QTL associations:

Tissue	QTL	q-value	Slope	Lead variant
Adipose Subcutaneous	eqtl	6.8e-06	-0.21	14:74811508:G:A
Thyroid	eqtl	7.8e-06	-0.15	14:74762673:A:T
Nerve Tibial	eqtl	2.2e-05	-0.18	14:74774527:TC:T
Artery Tibial	eqtl	3.6e-05	-0.20	14:74910989:C:T
Skin Sun Exposed Lower leg	eqtl	7.8e-05	+0.20	14:74697305:T:C
Breast Mammary Tissue	eqtl	7.8e-04	+0.21	14:74865037:T:C
Skin Not Sun Exposed Suprapubic	eqtl	2.4e-03	+0.16	14:74849911:T:C
Lung	eqtl	3.3e-03	+0.19	14:74771558:T:C
Ovary	eqtl	9.7e-03	+0.25	14:74874436:G:A
Adipose Visceral Omentum	eqtl	1.6e-02	-0.14	14:74797072:A:G
Esophagus Mucosa	eqtl	1.8e-02	-0.15	14:74661722:G:A
Esophagus Muscularis	eqtl	2.4e-02	+0.70	14:75192718:C:T
Muscle Skeletal	eqtl	2.8e-02	-0.64	14:74995893:CTG:C

FANTOM5 promoters

1 alternative TSS:

Promoter ID	TPM avg	Samples expressed
144087	0.0175	6

Top tissues by expression

showing 100 of 246 tissues by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	78.67	silver quality
pancreatic ductal cell	CL:0002079	67.54	silver quality
stromal cell of endometrium	CL:0002255	65.03	gold quality
granulocyte	CL:0000094	63.36	gold quality
bone marrow cell	CL:0002092	57.61	gold quality
ileal mucosa	UBERON:0000331	57.27	silver quality
colonic epithelium	UBERON:0000397	56.73	gold quality
tibialis anterior	UBERON:0001385	55.70	silver quality
right ovary	UBERON:0002118	55.63	gold quality
epithelial cell of pancreas	CL:0000083	55.56	gold quality
cortical plate	UBERON:0005343	55.34	silver quality
left ovary	UBERON:0002119	55.04	gold quality
ganglionic eminence	UBERON:0004023	55.04	silver quality
cardiac muscle of right atrium	UBERON:0003379	54.34	gold quality
left ventricle myocardium	UBERON:0006566	54.23	gold quality
endocervix	UBERON:0000458	54.20	gold quality
kidney epithelium	UBERON:0004819	53.93	gold quality
upper arm skin	UBERON:0004263	53.52	gold quality
ovary	UBERON:0000992	52.51	gold quality
right uterine tube	UBERON:0001302	52.33	gold quality
right lobe of thyroid gland	UBERON:0001119	52.11	gold quality
deltoid	UBERON:0001476	51.67	gold quality
body of uterus	UBERON:0009853	51.26	gold quality
prefrontal cortex	UBERON:0000451	51.10	gold quality
uterine cervix	UBERON:0000002	51.07	gold quality
right coronary artery	UBERON:0001625	50.80	gold quality
left lobe of thyroid gland	UBERON:0001120	50.79	gold quality
lymph node	UBERON:0000029	50.70	gold quality
tonsil	UBERON:0002372	50.47	gold quality
endometrium	UBERON:0001295	50.34	gold quality
myocardium	UBERON:0002349	50.25	gold quality
uterus	UBERON:0000995	50.12	gold quality
thyroid gland	UBERON:0002046	50.11	gold quality
apex of heart	UBERON:0002098	50.10	gold quality
right adrenal gland cortex	UBERON:0035827	49.58	gold quality
cerebellar cortex	UBERON:0002129	49.41	silver quality
cerebellar hemisphere	UBERON:0002245	49.25	silver quality
cortex of kidney	UBERON:0001225	49.11	gold quality
skin of leg	UBERON:0001511	49.05	gold quality
right adrenal gland	UBERON:0001233	49.00	gold quality
hindlimb stylopod muscle	UBERON:0004252	48.90	gold quality
female reproductive system	UBERON:0000474	48.88	gold quality
Brodmann (1909) area 9	UBERON:0013540	48.80	gold quality
cerebellum	UBERON:0002037	48.76	silver quality
myometrium	UBERON:0001296	48.73	gold quality
muscle tissue	UBERON:0002385	48.56	silver quality
ectocervix	UBERON:0012249	48.55	gold quality
muscle of leg	UBERON:0001383	48.52	silver quality
blood	UBERON:0000178	48.35	silver quality
vermiform appendix	UBERON:0001154	48.26	gold quality
tibial nerve	UBERON:0001323	48.26	gold quality
skin of abdomen	UBERON:0001416	48.17	gold quality
smooth muscle tissue	UBERON:0001135	48.14	gold quality
skeletal muscle tissue	UBERON:0001134	47.84	gold quality
lower esophagus mucosa	UBERON:0035834	47.83	gold quality
nucleus accumbens	UBERON:0001882	47.80	gold quality
zone of skin	UBERON:0000014	47.77	gold quality
frontal cortex	UBERON:0001870	47.75	gold quality
gastrocnemius	UBERON:0001388	47.71	silver quality
muscle layer of sigmoid colon	UBERON:0035805	47.60	gold quality
right hemisphere of cerebellum	UBERON:0014890	47.54	silver quality
minor salivary gland	UBERON:0001830	47.53	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	47.48	gold quality
spleen	UBERON:0002106	47.47	gold quality
small intestine Peyer’s patch	UBERON:0003454	47.39	gold quality
neocortex	UBERON:0001950	47.33	gold quality
quadriceps femoris	UBERON:0001377	47.04	gold quality
nasal cavity epithelium	UBERON:0005384	47.03	gold quality
vagina	UBERON:0000996	46.99	gold quality
heart left ventricle	UBERON:0002084	46.96	silver quality
spinal cord	UBERON:0002240	46.78	gold quality
small intestine	UBERON:0002108	46.75	gold quality
cardiac ventricle	UBERON:0002082	46.73	silver quality
saliva-secreting gland	UBERON:0001044	46.70	gold quality
caudate nucleus	UBERON:0001873	46.69	gold quality
pituitary gland	UBERON:0000007	46.60	gold quality
mouth mucosa	UBERON:0003729	46.55	gold quality
body of pancreas	UBERON:0001150	46.49	silver quality
right frontal lobe	UBERON:0002810	46.43	gold quality
lower esophagus	UBERON:0013473	46.40	gold quality
lower esophagus muscularis layer	UBERON:0035833	46.40	gold quality
caecum	UBERON:0001153	46.37	gold quality
cardiac atrium	UBERON:0002081	46.34	gold quality
urinary bladder	UBERON:0001255	46.27	silver quality
primary visual cortex	UBERON:0002436	46.27	gold quality
heart	UBERON:0000948	46.26	silver quality
prostate gland	UBERON:0002367	46.09	gold quality
subcutaneous adipose tissue	UBERON:0002190	46.02	gold quality
esophagus	UBERON:0001043	45.91	gold quality
right atrium auricular region	UBERON:0006631	45.91	gold quality
anterior cingulate cortex	UBERON:0009835	45.87	gold quality
kidney	UBERON:0002113	45.83	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	45.79	gold quality
fundus of stomach	UBERON:0001160	45.77	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	45.73	gold quality
anatomical system	UBERON:0000467	45.71	gold quality
brain	UBERON:0000955	45.71	gold quality
intestine	UBERON:0000160	45.68	silver quality
metanephros	UBERON:0000081	45.62	gold quality
multicellular organism	UBERON:0000468	45.59	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	3.26

HPA expression

RNA tissue specificity: Tissue enhanced

showing 60 of 71 HPA tissues / cells by nTPM:

Tissue / cell	Axis	nTPM
Choroid plexus	tissue	10.1
Nucleus accumbens	tissue	8.5
Hippocampus	tissue	7.7
Postcentral gyrus	tissue	6.9
Locus coeruleus	tissue	6.8
Bone marrow	tissue	2.3
Retina	tissue	1.3
Skin 1	tissue	1.1
Lymph node	tissue	1.0
Appendix	tissue	1.0
Basal ganglia	tissue	0.9
Spleen	tissue	0.9
Caudate putamen	tissue	0.9
Cerebral cortex	tissue	0.8
Insular cortex	tissue	0.8
Prefrontal cortex	tissue	0.7
Amygdala	tissue	0.7
Hippocampal formation	tissue	0.7
Entorhinal cortex	tissue	0.7
Ventral forebrain	tissue	0.7
Epididymis	tissue	0.6
Motor cortex	tissue	0.6
Putamen	tissue	0.6
Retrosplenial and cingulate cortex	tissue	0.6
Retrosplenial cortex	tissue	0.6
Temporal cortex	tissue	0.6
Frontal cortex	tissue	0.5
Occipital cortex	tissue	0.5
Pituitary gland	tissue	0.4
Breast	tissue	0.4
Vagina	tissue	0.4
Septum	tissue	0.4
Somatosensory cortex	tissue	0.4
Testis	tissue	0.3
Seminal vesicle	tissue	0.3
Hypothalamus	tissue	0.3
Placenta	tissue	0.3
Gallbladder	tissue	0.3
Tonsil	tissue	0.3
Periaqueductal gray	tissue	0.3
Cervix	tissue	0.2
Stomach 1	tissue	0.2
Heart muscle	tissue	0.2
Pons	tissue	0.2
Adipose tissue	tissue	0.2
Esophagus	tissue	0.2
Salivary gland	tissue	0.2
Rectum	tissue	0.2
Skeletal muscle	tissue	0.2
Colon	tissue	0.2
Endometrium 1	tissue	0.2
Midbrain	tissue	0.2
Medulla oblongata	tissue	0.2
Thalamus	tissue	0.2
Substantia nigra	tissue	0.2
Thyroid gland	tissue	0.2
Lung	tissue	0.2
Small intestine	tissue	0.2
Prostate	tissue	0.2
Thymus	tissue	0.2

Brain sub-regions (HPA Brain Atlas): detected in 186; highest nTPM — Flocculonodular lobe (12.5), Vermis (11.1), Temporal white matter (11.0), Parieto-temporal junction (white matter) (10.6), Cerebellar cortex (10.3).

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

Targeting PROX2 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific).

showing 30 of 95 miRNAs:

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-6867-5P	100.00	82.21	3464
HSA-MIR-4283	100.00	66.42	2097
HSA-MIR-6740-5P	100.00	65.64	932
HSA-MIR-4262	100.00	73.26	3931
HSA-MIR-3667-3P	99.99	67.17	1636
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-493-5P	99.96	72.47	2382
HSA-MIR-6721-5P	99.93	68.92	2981
HSA-MIR-6783-3P	99.89	67.92	2059
HSA-MIR-9902	99.89	69.15	2250
HSA-MIR-1343-3P	99.89	66.78	1815
HSA-MIR-153-5P	99.89	73.86	6317
HSA-MIR-5582-3P	99.86	72.48	4221
HSA-MIR-5003-3P	99.85	69.29	2517
HSA-MIR-548AR-3P	99.85	71.26	3889
HSA-MIR-4698	99.84	71.41	4303
HSA-MIR-5010-3P	99.83	70.60	2357
HSA-MIR-548AZ-3P	99.82	70.56	3549
HSA-MIR-548BC	99.82	70.61	3524
HSA-MIR-548E-3P	99.82	70.59	3514
HSA-MIR-548F-3P	99.82	70.59	3540
HSA-MIR-205-5P	99.81	70.05	1557
HSA-MIR-4659A-3P	99.80	72.62	4248
HSA-MIR-4659B-3P	99.80	72.62	4248
HSA-MIR-2052	99.79	69.37	2031
HSA-MIR-3913-5P	99.78	67.26	968
HSA-MIR-1299	99.77	71.24	2389
HSA-MIR-4319	99.76	69.83	2586
HSA-MIR-548A-3P	99.76	70.58	3524

Functional genomics

gnomAD constraint: pLI 4.19e-15, LOEUF 1.25, missense Z 0.9 — population loss-of-function intolerance (pLI ≥ 0.9 = LoF-intolerant; lower LOEUF = more constrained). gnomAD

Regional missense constraint (gnomAD RMC): no regional variation along ENST00000556489 — one region, missense o/e 0.92.

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	prox2	ENSDARG00000041952
mus_musculus	Prox2	ENSMUSG00000042320
rattus_norvegicus	Prox2	ENSRNOG00000005054
drosophila_melanogaster	pros	FBGN0004595
caenorhabditis_elegans		WBGENE00000448

Paralogs (1): PROX1 (ENSG00000117707)

Mouse-model phenotypes

Observed phenotypes of the mouse ortholog (MGI:1920672) from MGI (Alliance of Genome Resources) — knockout/mutant phenotypes, ranked by annotation count. 1 distinct phenotype terms.

Mouse phenotype (MP)	Records
enlarged cecum	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
Gallus gallus	Q91018	90.1%	Diamond
Drosophila virilis	Q9U6A1	69.2%	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
DLST	protein-coding	1743
RPS6KL1	protein-coding	83694
FCF1	protein-coding	51077
YLPM1	protein-coding	56252
PGF	protein-coding	5228
EIF2B2	protein-coding	8892
AREL1	protein-coding	9870

Protein

Protein identifiers

Prospero homeobox protein 2 — Q3B8N5 (reviewed: Q3B8N5)

Alternative names: Homeobox prospero-like protein PROX2

All UniProt accessions (3): A0A0G2JMC2, G3V3G0, Q3B8N5

UniProt curated annotations — full annotation on UniProt →

Function. Transcription regulator. Does not seem to be essential for embryonic development and postnatal survival.

Subcellular location. Nucleus.

Domain organisation. The Prospero-type homeodomain and the adjacent Prospero domain act as a single structural unit, the Homeo-Prospero domain.

Similarity. Belongs to the Prospero homeodomain family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q3B8N5-1	1	yes
Q3B8N5-2	2

RefSeq proteins (3): NP_001073877, NP_001229936, NP_001371243 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR009057	Homeodomain-like_sf	Homologous_superfamily
IPR023082	Homeo_prospero_dom	Domain
IPR037131	Homeo_prospero_dom_sf	Homologous_superfamily
IPR039350	Prospero_homeodomain	Family

Pfam: PF05044

UniProt features (18 total): region of interest 6, compositionally biased region 4, sequence conflict 3, domain 2, chain 1, splice variant 1, sequence variant 1

Structure

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q3B8N5-F1	60.97	0.32

Human Protein Atlas

Protein class: Predicted intracellular proteins, Transcription factors, Helix-turn-helix domains, UniProt - Evidence at transcript level

Protein evidence: Evidence at transcript level

Antibody reliability (HPA): IH uncertain

Function

Pathways and Gene Ontology

Reactome pathways

0 curated (TAS) of 0; 0 disease pathways. Curated-first; evidence = TAS (manually curated) vs IEA (electronic inference).

MSigDB gene sets: 85 (showing top): GSE45365_NK_CELL_VS_CD11B_DC_UP, GOBP_LENS_FIBER_CELL_DIFFERENTIATION, GOBP_HEPATICOBILIARY_SYSTEM_DEVELOPMENT, GOBP_EPITHELIUM_DEVELOPMENT, GOBP_EPITHELIAL_CELL_DEVELOPMENT, GOBP_PANCREAS_DEVELOPMENT, GOBP_ANIMAL_ORGAN_MORPHOGENESIS, chr14q24, GOBP_ENDOTHELIUM_DEVELOPMENT, GOBP_EMBRYO_DEVELOPMENT, GOBP_SENSORY_ORGAN_DEVELOPMENT, GOBP_SENSORY_ORGAN_MORPHOGENESIS, GOBP_LENS_MORPHOGENESIS_IN_CAMERA_TYPE_EYE, GOBP_LYMPH_VESSEL_DEVELOPMENT, GOBP_RETINA_DEVELOPMENT_IN_CAMERA_TYPE_EYE

GO Biological Process (12): DNA-templated transcription (GO:0006351), regulation of transcription by RNA polymerase II (GO:0006357), central nervous system development (GO:0007417), pancreas development (GO:0031016), tube development (GO:0035295), cell fate commitment (GO:0045165), anatomical structure formation involved in morphogenesis (GO:0048646), embryonic retina morphogenesis in camera-type eye (GO:0060059), lymphatic endothelial cell differentiation (GO:0060836), lens fiber cell morphogenesis (GO:0070309), hepatocyte differentiation (GO:0070365), regulation of DNA-templated transcription (GO:0006355)

GO Molecular Function (3): RNA polymerase II cis-regulatory region sequence-specific DNA binding (GO:0000978), DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981), DNA binding (GO:0003677)

GO Cellular Component (3): chromatin (GO:0000785), nucleus (GO:0005634), cytoplasm (GO:0005737)

GO top-level categories

36 GO namespaces:

Category	Terms
RNA polymerase II transcription regulatory region sequence-specific DNA binding	2
cellular anatomical structure	2
gene expression	1
RNA biosynthetic process	1
regulation of DNA-templated transcription	1
transcription by RNA polymerase II	1
nervous system development	1
system development	1
animal gross anatomical part developmental process	1
animal organ development	1
multicellular organism development	1
anatomical structure development	1
cell differentiation	1
cellular developmental process	1
anatomical structure morphogenesis	1
developmental process	1
embryonic morphogenesis	1
retina morphogenesis in camera-type eye	1
lymph vessel development	1
endothelial cell differentiation	1
cell morphogenesis	1
lens morphogenesis in camera-type eye	1
lens fiber cell development	1
liver development	1
epithelial cell differentiation	1
DNA-templated transcription	1
regulation of gene expression	1
regulation of RNA biosynthetic process	1
cis-regulatory region sequence-specific DNA binding	1
chromatin	1
DNA-binding transcription factor activity	1
regulation of transcription by RNA polymerase II	1
nucleic acid binding	1
chromosome	1
intracellular membrane-bounded organelle	1
intracellular anatomical structure	1

Protein interactions and networks

STRING

showing 15 of 512 interactions by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
PROX2	VRTN	Q9H8Y1	716
PROX2	ANKRD61	A6NGH8	576
PROX2	AREL1	O15033	553
PROX2	FAM110D	Q8TAY7	539
PROX2	SYNDIG1L	A6NDD5	535
PROX2	YLPM1	P49750	519
PROX2	CTXN1	P60606	499
PROX2	HEATR4	Q86WZ0	481
PROX2	MANSC4	A6NHS7	474
PROX2	FCF1	Q9Y324	444
PROX2	SWI5	Q1ZZU3	439
PROX2	TMEM235	A6NFC5	425
PROX2	PGPEP1L	A6NFU8	422
PROX2	RPS6KL1	Q9Y6S9	421
PROX2	RNF215	Q9Y6U7	409

Disease & clinical

Genetic variants

Variant evidence for PROX2: 58 ClinVar records (0 pathogenic / likely pathogenic); 8 GWAS associations.

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	50
Likely benign	2
Benign	3

SpliceAI

Top 10 splice-impact sites by Δscore (adjacent positions with the same effect merged into one range; 24 predictions of 411):

Position(s)	Effect	Δscore	Sites
14:74855322	acceptor_gain	0.9900
14:74875893–74875894	donor_loss	0.9900	5
14:74856799–74856800	donor_loss	0.9800	5
14:74856799	donor_loss	0.9700
14:74856996–74856998	acceptor_loss	0.9500	7
14:74857006	acceptor_loss	0.9500
14:74863408	donor_gain	0.9400
14:74856814	donor_gain	0.9100
14:74857002	acceptor_loss	0.8800
14:74855313	acceptor_gain	0.8700

AlphaMissense

566 missense substitutions predicted likely pathogenic (of 3,870 scored), across 139 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
F487	8	0.959	0.993
F484	8	0.956	0.996
F467	8	0.944	0.988
S485	8	0.939	0.997
F452	8	0.938	0.995
N486	8	0.924	0.992
H528	8	0.895	0.989
D561	8	0.889	0.952
D578	8	0.889	0.952
F541	8	0.884	0.971
F472	8	0.883	0.977
H444	8	0.788	0.938
W566	7	0.986	0.997
E489	7	0.980	0.992
W483	7	0.977	0.997
F490	7	0.968	0.997
F552	7	0.966	0.995
K567	7	0.934	0.997
K482	7	0.931	0.995
K568	7	0.927	0.981

HPA cancer prognostics

RNA cancer specificity: Not detected

Disease associations

OMIM: gene MIM:615094 | disease phenotypes:

GWAS associations

8 associations:

Study	Trait	p-value
GCST90002393_41	Monocyte count	8e-17
GCST90000514_10	Gastroesophageal reflux disease	2e-9
GCST005238_3	Mood instability	3e-9
GCST005839_15	Depression	4e-9
GCST006697_28	Parental longevity (combined parental attained age, Martingale residuals)	2e-8
GCST009145_7	Total cholesterol levels	1e-7
GCST006701_9	Parental longevity (father’s attained age)	2e-7
GCST005237_3	Mood instability	1e-6

EFO canonical traits (from GWAS)

4 canonical traits:

EFO ID	Trait name
EFO:0008475	mood instability measurement
EFO:0007796	parental longevity
EFO:0004574	total cholesterol measurement
EFO:0005091	monocyte count

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (CPIC guideline: no)

CTD chemical–gene interactions

10 total (human), top 10 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
aristolochic acid I	increases expression	1
triphenyl phosphate	affects expression	1
pirinixic acid	affects binding, decreases expression, increases activity	1
bisphenol A	affects cotreatment, decreases methylation	1
Fulvestrant	affects cotreatment, decreases methylation	1
Benzo(a)pyrene	affects methylation	1
Malathion	decreases expression	1
Phthalic Acids	increases methylation	1
Tobacco Smoke Pollution	decreases expression	1
Cyclosporine	increases methylation	1

Clinical trials (associated diseases)

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