GIMAP5

Summary

GIMAP5 (GTPase, IMAP family member 5, HGNC:18005) is a protein-coding gene on chromosome 7q36.1, encoding GTPase IMAP family member 5 (Q96F15). Plays a role in T lymphocyte development and the optimal generation of CD4/CD8 double-positive thymocytes.

This gene encodes a protein belonging to the GTP-binding superfamily and to the immuno-associated nucleotide (IAN) subfamily of nucleotide-binding proteins. In humans, the IAN subfamily genes are located in a cluster at 7q36.1. This gene encodes an antiapoptotic protein that functions in T-cell survival. Polymorphisms in this gene are associated with systemic lupus erythematosus. Read-through transcription exists between this gene and the neighboring upstream GIMAP1 (GTPase, IMAP family member 1) gene.

Source: NCBI Gene 55340 — RefSeq curated summary.

At a glance

• Gene–disease (curated): portal hypertension, noncirrhotic, 2 (Strong, GenCC)
• Clinical variants (ClinVar): 4 total
• Phenotypes (HPO): 19
• MANE Select transcript: NM_018384

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:18005
Approved symbol	GIMAP5
Name	GTPase, IMAP family member 5
Location	7q36.1
Locus type	gene with protein product
Status	Approved
Aliases	HIMAP3, IAN5
Ensembl gene	ENSG00000196329
Ensembl biotype	protein_coding
OMIM	608086
Entrez	55340

Gene structure

Transcript identifiers

Ensembl transcripts: 13 — 8 protein_coding, 3 protein_coding_CDS_not_defined, 2 retained_intron

ENST00000358647, ENST00000466347, ENST00000469272, ENST00000476324, ENST00000479556, ENST00000493304, ENST00000498181, ENST00000887442, ENST00000887443, ENST00000968189, ENST00000968190, ENST00000968191, ENST00000968192

RefSeq mRNA: 1 — MANE Select: NM_018384 NM_018384

CCDS: CCDS5907

Canonical transcript exons

ENST00000358647 — 3 exons

Exon	Start	End
ENSE00001022338	150737418	150737708
ENSE00001860473	150742183	150743646
ENSE00003506050	150740879	150740927

Expression profiles

Bgee: expression breadth ubiquitous, 165 present calls, max score 97.64.

FANTOM5 (CAGE): breadth broad, TPM avg 24.7892 / max 1204.2851, expressed in 576 samples.

FANTOM5 promoters (7 alternative TSS)

Promoter ID	TPM avg	Samples expressed
81968	14.0397	515
81967	7.4184	505
81965	1.4969	408
81969	1.1615	208
81966	0.3444	186
81964	0.2710	136
205003	0.0573	31

Top tissues by expression

294 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
right lung	UBERON:0002167	97.64	gold quality
granulocyte	CL:0000094	97.22	gold quality
upper lobe of left lung	UBERON:0008952	94.92	gold quality
omental fat pad	UBERON:0010414	93.31	gold quality
spleen	UBERON:0002106	93.23	gold quality
peritoneum	UBERON:0002358	93.17	gold quality
lymph node	UBERON:0000029	92.13	gold quality
apex of heart	UBERON:0002098	91.61	gold quality
upper lobe of lung	UBERON:0008948	91.51	gold quality
adipose tissue of abdominal region	UBERON:0007808	90.44	gold quality
right lobe of thyroid gland	UBERON:0001119	90.33	gold quality
left lobe of thyroid gland	UBERON:0001120	90.10	gold quality
small intestine Peyer’s patch	UBERON:0003454	90.02	gold quality
calcaneal tendon	UBERON:0003701	88.88	gold quality
mucosa of stomach	UBERON:0001199	88.40	gold quality
right atrium auricular region	UBERON:0006631	88.35	gold quality
left uterine tube	UBERON:0001303	88.20	gold quality
gall bladder	UBERON:0002110	87.86	gold quality
thyroid gland	UBERON:0002046	87.69	gold quality
body of uterus	UBERON:0009853	87.47	gold quality
vermiform appendix	UBERON:0001154	87.17	gold quality
rectum	UBERON:0001052	86.55	gold quality
lower esophagus muscularis layer	UBERON:0035833	86.49	gold quality
lower esophagus	UBERON:0013473	86.44	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	86.14	gold quality
tibial nerve	UBERON:0001323	86.07	gold quality
subcutaneous adipose tissue	UBERON:0002190	85.86	gold quality
smooth muscle tissue	UBERON:0001135	85.57	gold quality
small intestine	UBERON:0002108	85.55	gold quality
endocervix	UBERON:0000458	85.07	gold quality

Single-cell (SCXA)

Detected in 9 experiment(s), a significant marker in 7.

Experiment	Marker?	Max mean expression
E-MTAB-8142	yes	45.04
E-HCAD-1	yes	43.01
E-CURD-122	yes	41.45
E-MTAB-6701	yes	14.76
E-CURD-112	yes	12.92
E-ANND-3	yes	11.32
E-MTAB-8410	yes	8.62
E-GEOD-106540	no	788.55
E-HCAD-8	no	45.82

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

21 targeting GIMAP5, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-4531	99.99	69.70	3181
HSA-MIR-4307	99.82	70.45	3374
HSA-MIR-12124	99.68	69.17	2700
HSA-MIR-5093	99.67	69.26	2291
HSA-MIR-4649-3P	99.56	66.90	1783
HSA-MIR-21-5P	99.46	70.54	1035
HSA-MIR-590-5P	99.25	70.76	930
HSA-MIR-4680-3P	98.64	68.60	2093
HSA-MIR-3179	98.22	65.90	1445
HSA-MIR-4518	98.12	66.82	1030
HSA-MIR-4443	98.02	66.25	1928
HSA-MIR-6819-5P	97.96	66.59	1071
HSA-MIR-3691-3P	97.90	65.97	791
HSA-MIR-6737-5P	97.75	66.54	1044
HSA-MIR-1266-5P	97.71	66.92	1052
HSA-MIR-6783-5P	97.67	67.21	1528
HSA-MIR-6812-5P	97.56	65.39	1059
HSA-MIR-5579-3P	97.00	68.81	1111
HSA-MIR-6736-3P	96.98	65.22	1342
HSA-MIR-4300	95.85	64.56	1003
HSA-MIR-5591-5P	95.85	64.76	1002

Literature-anchored findings (GeneRIF, showing 11)

• A significant increase in systemic lupus erythematosus risk associated with the most common GIMAP5 haplotype was found (odds ratio 1.26, 95% CI 1.02 to 1.54, p = 0.0033). (PMID:17220214)
• Resutls show that Gimap5 is located in the endoplasmic reticulum, and the endogenous Gimap5 mRNA is up-regulated in activated T-cells. (PMID:17369194)
• These data suggest that the GIMAP5 gene is associated with islet autoimmunity in type I diabetes and add to recent findings implicating the same single nucleotide polymorphism in another autoimmune disease. (PMID:17641683)
• Data show that IAN5 polymorphisms are associated with susceptibility to Systemic lupus erythematosus and the development of clinical disease manifestations in a strictly Korean population. (PMID:19762377)
• These data establish Gimap5 as a key regulator of hematopoietic integrity and lymphocyte homeostasis (PMID:20190135)
• Notch signalling protects T-ALL cells from apoptosis by upregulating the expression of GIMAP5. (PMID:20817506)
• Data indicate that overexpression of GTPase of the immune-associated nucleotide-binding protein 5 (GIMAP5) in HEK (human embryonic kidney)-293 cells resulted in increased Ca2+ accumulation within the mitochondria. (PMID:23098229)
• gimap5 has a role in maintaining peripheral tolerance and T cell homeostasis in the gut [review] (PMID:25944983)
• These data,demonstrating the downregulation of the mRNA and protein expression levels of GIMAP5 and GIMAP6 in the tumor tissues and blood of patients with HCC, suggested the involvement of GIMAP5 and GIMAP6 in the pathogenesis of HCC, and indicate their possible use as diagnostic markers for HCC. (PMID:27667392)
• GIMAP5 loss-of-function mutation results in T cell deficiencies. (PMID:29382851)
• Gimap5 promoted RSV degradation through interaction with M6PR. (PMID:36484389)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio		ENSDARG00000109662
danio_rerio		ENSDARG00000109888
danio_rerio		ENSDARG00000109940
mus_musculus	Gimap3	ENSMUSG00000039264
mus_musculus	Gimap5	ENSMUSG00000043505
rattus_norvegicus	Gimap5	ENSRNOG00000008416

Paralogs (7): GIMAP2 (ENSG00000106560), GIMAP6 (ENSG00000133561), GIMAP4 (ENSG00000133574), GIMAP8 (ENSG00000171115), GIMAP7 (ENSG00000179144), GIMAP1 (ENSG00000213203), GIMD1 (ENSG00000250298)

Protein

Protein identifiers

GTPase IMAP family member 5 — Q96F15 (reviewed: Q96F15)

Alternative names: Immune-associated nucleotide-binding protein 5, Immunity-associated nucleotide 4-like 1 protein, Immunity-associated nucleotide 5 protein, Immunity-associated protein 3

All UniProt accessions (2): Q96F15, A0A090N8P9

UniProt curated annotations — full annotation on UniProt →

Function. Plays a role in T lymphocyte development and the optimal generation of CD4/CD8 double-positive thymocytes. Inhibitor of GSK3A, possibly by sequestering GSK3A in cytoplasmic vesicles and impairing its translocation to the nucleus. Consequently, impairs GSK3A-dependent transcriptional program and regulation of the DNA damage response occurring during T cells proliferation. Required for the survival of peripheral T cells, natural killer (NK) and NK T-cell development and the maintenance of normal liver function. May promote the survival of mature T lymphocytes upon cytokine withdrawal. May regulate Ca(2+) homeostasis by modulating lysosomal Ca(2+) stores, preventing its accumulation in the absence of T cell activation. May play a role in mitochondrial DNA segregation in hematopoietic tissues. Is a regulator of liver endothelial cell homeostasis.

Subunit / interactions. Interacts with BAD, BAK1, BAX, BCL2, BCL2L1/Bcl-xL and BCL2L11/BimEL. The interaction with BAX is increased, when cells initiate apoptosis upon IL2 withdrawal. Also interacts with BCL2. Forms a complex with BCL2L1 or MCL1 and HSPA8/HSC70; the interaction between HSPA8 and BCL2L1 or MCL1 is impaired in the absence of GIMAP5. May interact (via N-terminus) with microtubules.

Subcellular location. Lysosome membrane. Endosome. Multivesicular body membrane. Endosome membrane.

Tissue specificity. Widely expressed with high levels in lymph node and spleen. High expression found in T lymphocytes, including CD4 and CD8-positive T-cells, and monocytes. Very low expression levels in B-lymphocytes.

Disease relevance. Portal hypertension, non-cirrhotic, 2 (NCPH2) [MIM:619463] An autosomal recessive disorder characterized by portal hypertension associated with hepatosplenomegaly, in absence of cirrhosis. Portal hypertension is defined by a portal venous system pressure that is at least 5 mm Hg higher than the pressure in the inferior vena cava. High pressure in the portal venous system leads to shunting of blood through vessels that are poorly suited to carrying large blood volumes, resulting in collateral circulation and splenomegaly. NCPH2 patients have jaundice, hyperbilirubinemia, pancytopenia, including neutropenia, lymphopenia, and thrombocytopenia, hepatosplenomegaly, and esophageal varices. Some patients may have recurrent infections or features suggestive of an immunodeficiency. The disease may be caused by variants affecting the gene represented in this entry.

Similarity. Belongs to the TRAFAC class TrmE-Era-EngA-EngB-Septin-like GTPase superfamily. AIG1/Toc34/Toc159-like paraseptin GTPase family. IAN subfamily.

Isoforms (2)

UniProt ID	Names	Canonical?
Q96F15-1	1	yes
Q96F15-2	2

RefSeq proteins (1): NP_060854* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR006703	G_AIG1	Domain
IPR027417	P-loop_NTPase	Homologous_superfamily
IPR045058	GIMA/IAN/Toc	Family

Pfam: PF04548

UniProt features (36 total): helix 10, strand 8, sequence variant 4, binding site 4, topological domain 2, turn 2, chain 1, splice variant 1, sequence conflict 1, transmembrane region 1, domain 1, region of interest 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
6Z3E	X-RAY DIFFRACTION	2.8

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q96F15-F1	89.78	0.78

Functional residue map

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

Ligand- & substrate-binding residues (4): 34–42; 55; 152–154; 189

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 183 (showing top): BROWNE_HCMV_INFECTION_6HR_DN, BENPORATH_ES_WITH_H3K27ME3, GOCC_VACUOLAR_MEMBRANE, WIELAND_UP_BY_HBV_INFECTION, CAIRO_HEPATOBLASTOMA_CLASSES_DN, LEE_NAIVE_T_LYMPHOCYTE, FINAK_BREAST_CANCER_SDPP_SIGNATURE, BLALOCK_ALZHEIMERS_DISEASE_UP, SCHAEFFER_PROSTATE_DEVELOPMENT_6HR_UP, WONG_MITOCHONDRIA_GENE_MODULE, MODULE_48, ACEVEDO_LIVER_CANCER_UP, MODULE_207, BOQUEST_STEM_CELL_DN, MODULE_95

GO Biological Process (0):

GO Molecular Function (4): GTPase activity (GO:0003924), GTP binding (GO:0005525), nucleotide binding (GO:0000166), protein binding (GO:0005515)

GO Cellular Component (6): lysosomal membrane (GO:0005765), multivesicular body membrane (GO:0032585), lysosome (GO:0005764), endosome (GO:0005768), endosome membrane (GO:0010008), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
ribonucleoside triphosphate phosphatase activity	1
guanyl ribonucleotide binding	1
purine ribonucleoside triphosphate binding	1
nucleoside phosphate binding	1
heterocyclic compound binding	1
binding	1
lysosome	1
lytic vacuole membrane	1
multivesicular body	1
late endosome membrane	1
lytic vacuole	1
endomembrane system	1
cytoplasmic vesicle	1
endosome	1
cytoplasmic vesicle membrane	1
bounding membrane of organelle	1
cellular anatomical structure	1

Protein interactions and networks

STRING

1272 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
GIMAP5	CISD2	Q8N5K1	642
GIMAP5	BCL2	P10415	625
GIMAP5	AIG1	Q9NVV5	494
GIMAP5	GIMAP4	Q9NUV9	478
GIMAP5	BCL2L1	Q07817	476
GIMAP5	HSPA8	P11142	472
GIMAP5	ZNF775	Q96BV0	440
GIMAP5	PTPRN	Q16849	412
GIMAP5	TMEM176B	Q3YBM2	377
GIMAP5	ASIP	P42127	353
GIMAP5	WDR86	Q86TI4	348
GIMAP5	FES	P07332	311
GIMAP5	C7orf33	Q8WU49	300
GIMAP5	DRC11L	A6NCM1	291
GIMAP5	CXorf65	A6NEN9	291

IntAct

203 interactions, top by confidence:

A	B	Type	Score
GIMAP5	LDLRAD1	psi-mi:“MI:0915”(physical association)	0.720
GIMAP5	LSMEM2	psi-mi:“MI:0915”(physical association)	0.720
GIMAP5	EDA	psi-mi:“MI:0915”(physical association)	0.720
EDA	GIMAP5	psi-mi:“MI:0915”(physical association)	0.720
LSMEM2	GIMAP5	psi-mi:“MI:0915”(physical association)	0.720
LDLRAD1	GIMAP5	psi-mi:“MI:0915”(physical association)	0.720
STX4	GIMAP5	psi-mi:“MI:0915”(physical association)	0.560
GIMAP5	GRAMD2B	psi-mi:“MI:0915”(physical association)	0.560
GRAMD2B	GIMAP5	psi-mi:“MI:0915”(physical association)	0.560
GIMAP5	MGST2	psi-mi:“MI:0915”(physical association)	0.560
GIMAP5	AQP3	psi-mi:“MI:0915”(physical association)	0.560
GIMAP5	GJA8	psi-mi:“MI:0915”(physical association)	0.560
GIMAP5	KIR3DL3	psi-mi:“MI:0915”(physical association)	0.560
GIMAP5	EBP	psi-mi:“MI:0915”(physical association)	0.560
GIMAP5	PTGES	psi-mi:“MI:0915”(physical association)	0.560
GIMAP5	SPACA1	psi-mi:“MI:0915”(physical association)	0.560
GIMAP5	LAYN	psi-mi:“MI:0915”(physical association)	0.560
GIMAP5	TMX2	psi-mi:“MI:0915”(physical association)	0.560
GIMAP5	GJB3	psi-mi:“MI:0915”(physical association)	0.560
GIMAP5	CYBRD1	psi-mi:“MI:0915”(physical association)	0.560
GIMAP5	CYB561	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (85): GIMAP5 (Two-hybrid), GIMAP5 (Two-hybrid), GRAMD3 (Two-hybrid), LSMEM2 (Two-hybrid), LDLRAD1 (Two-hybrid), BCL2 (Affinity Capture-Western), BCL2L1 (Affinity Capture-Western), BAX (Affinity Capture-Western), BAK1 (Affinity Capture-Western), BAD (Affinity Capture-Western), BCL2L11 (Affinity Capture-Western), GIMAP5 (Affinity Capture-Western), GIMAP5 (Affinity Capture-Western), GIMAP5 (Two-hybrid), GIMAP5 (Two-hybrid)

ESM2 similar proteins: A4D126, A5PK43, A5PKB7, A6H603, C3VPR6, D2GU20, E9PW74, G1T469, G3MZQ6, O60294, O75578, O75616, P38570, P56201, P70224, Q149M9, Q17QI8, Q17QJ3, Q1JPJ9, Q2HJ51, Q53B87, Q53B88, Q5EBA0, Q5FVI9, Q5FVN6, Q5R6H6, Q5RJG7, Q5S6T3, Q5W0U4, Q643R3, Q6AYF9, Q6E804, Q6P5Z2, Q6P9H5, Q8BWF2, Q8BYR1, Q8K045, Q8K2J0, Q8K349, Q8K3L6

Diamond homologs: A5PKB7, F4HT21, G3X987, O23680, O81025, P54120, P70224, Q41009, Q4KLG2, Q5FVN6, Q6P9H5, Q75N62, Q8BWF2, Q8K349, Q8K3K9, Q8K3L6, Q8ND71, Q8NHV1, Q8WWP7, Q96F15, Q99JY3, Q99MI6, Q9C8U2, Q9C8V0, Q9C8V2, Q9NUV9, Q9T0F2, Q9T0F3, Q9T0F4, Q9UG22, A8HYJ1, A9SV59, A9SV60, A9SY64, A9SY65, O81283, Q38906, Q6S5G3, Q9LUS2, Q9SLF3

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	1
Likely benign	2
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

664 predictions. Top by Δscore:

Variant	Effect	Δscore
7:150729925:A:AG	acceptor_gain	1.0000
7:150729925:AAT:A	acceptor_gain	1.0000
7:150729926:A:G	acceptor_gain	1.0000
7:150740925:AAGG:A	donor_loss	1.0000
7:150740926:AGGT:A	donor_loss	1.0000
7:150740926:AGGTA:A	donor_loss	1.0000
7:150740927:GGT:G	donor_loss	1.0000
7:150740928:GT:G	donor_loss	1.0000
7:150740929:T:G	donor_loss	1.0000
7:150722347:GC:G	donor_gain	0.9900
7:150722361:G:GT	donor_gain	0.9900
7:150729923:ACAAT:A	acceptor_gain	0.9900
7:150729924:C:G	acceptor_gain	0.9900
7:150729927:T:TA	acceptor_gain	0.9900
7:150737503:A:AG	acceptor_gain	0.9900
7:150737504:G:GG	acceptor_gain	0.9900
7:150737504:GCT:G	acceptor_gain	0.9900
7:150737504:GCTGA:G	acceptor_gain	0.9900
7:150740865:T:A	acceptor_gain	0.9900
7:150740873:TTCCA:T	acceptor_loss	0.9900
7:150740874:TCCA:T	acceptor_loss	0.9900
7:150740874:TCCAG:T	acceptor_loss	0.9900
7:150740875:CCA:C	acceptor_loss	0.9900
7:150740875:CCAG:C	acceptor_loss	0.9900
7:150740876:CA:C	acceptor_loss	0.9900
7:150740876:CAGGA:C	acceptor_loss	0.9900
7:150740877:A:AG	acceptor_gain	0.9900
7:150740877:A:AT	acceptor_loss	0.9900
7:150740877:A:C	acceptor_loss	0.9900
7:150740878:G:A	acceptor_loss	0.9900

AlphaMissense

2018 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
7:150742296:T:C	F53L	0.968
7:150742298:T:A	F53L	0.968
7:150742298:T:G	F53L	0.968
7:150742587:T:C	F150L	0.961
7:150742589:C:A	F150L	0.961
7:150742589:C:G	F150L	0.961
7:150742506:T:C	F123L	0.957
7:150742508:C:A	F123L	0.957
7:150742508:C:G	F123L	0.957
7:150742551:T:C	F138L	0.957
7:150742553:T:A	F138L	0.957
7:150742553:T:G	F138L	0.957
7:150742398:T:C	F87L	0.954
7:150742400:T:A	F87L	0.954
7:150742400:T:G	F87L	0.954
7:150742260:A:C	S41R	0.946
7:150742262:T:A	S41R	0.946
7:150742262:T:G	S41R	0.946
7:150742791:T:C	F218L	0.941
7:150742793:C:A	F218L	0.941
7:150742793:C:G	F218L	0.941
7:150742228:T:C	I30T	0.930
7:150742809:T:C	F224L	0.927
7:150742811:C:A	F224L	0.927
7:150742811:C:G	F224L	0.927
7:150742588:T:C	F150S	0.926
7:150742698:T:C	F187L	0.926
7:150742700:C:A	F187L	0.926
7:150742700:C:G	F187L	0.926
7:150742279:T:C	I47T	0.916

dbSNP variants (sampled 300 via entrez): RS1000877406 (7:150739480 A>G), RS1000995160 (7:150738993 C>T), RS1001210427 (7:150738036 G>A,T), RS1001263528 (7:150737431 C>A), RS1001318981 (7:150737646 G>A,C,T), RS1001615241 (7:150743339 G>A), RS1002849616 (7:150736940 T>A), RS1002936990 (7:150736319 G>T), RS1003396391 (7:150743059 T>C), RS1003620320 (7:150740663 C>A,T), RS1003698592 (7:150741763 A>C), RS1004014228 (7:150743336 T>A,G), RS1004889092 (7:150737307 A>AAG), RS1005278561 (7:150738312 C>A,T), RS1005293256 (7:150735525 T>A,C)

Disease associations

OMIM: gene MIM:608086 | disease phenotypes: MIM:619463

GenCC curated gene-disease

Disease	Classification	Inheritance
portal hypertension, noncirrhotic, 2	Strong	Autosomal recessive

Mondo (2): portal hypertension (MONDO:0005080), portal hypertension, noncirrhotic, 2 (MONDO:0030397)

Orphanet (0):

HPO phenotypes

19 total (19 of 19 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000421	Epistaxis
HP:0000967	Petechiae
HP:0001402	Hepatocellular carcinoma
HP:0001409	Portal hypertension
HP:0001541	Ascites
HP:0001744	Splenomegaly
HP:0001873	Thrombocytopenia
HP:0002040	Esophageal varix
HP:0002105	Hemoptysis
HP:0002240	Hepatomegaly
HP:0002719	Recurrent infections
HP:0002910	Elevated circulating hepatic transaminase concentration
HP:0003621	Juvenile onset
HP:0011463	Childhood onset
HP:0011954	Nodular regenerative hyperplasia of liver
HP:0012378	Fatigue
HP:0030948	Elevated gamma-glutamyltransferase level
HP:0031364	Ecchymosis

GWAS associations

0 associations (top):

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D006975	Hypertension, Portal	C06.552.494

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

16 total (human), top 16 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
triphenyl phosphate	affects expression	1
S-(1,2-dichlorovinyl)cysteine	decreases reaction, increases expression	1
CGP 52608	affects binding, increases reaction	1
Air Pollutants	affects expression, increases abundance	1
Air Pollutants, Occupational	decreases expression	1
Benzo(a)pyrene	affects methylation, increases methylation	1
Lipopolysaccharides	increases expression, decreases reaction	1
N-Nitrosopyrrolidine	increases expression	1
Nickel	decreases expression	1
Ozone	affects expression, increases abundance	1
Silicon Dioxide	increases expression	1
Tetrachlorodibenzodioxin	affects expression	1
Tobacco Smoke Pollution	decreases expression	1
Vitamin E	increases expression	1
Aflatoxin B1	increases methylation	1
Okadaic Acid	decreases expression	1

Clinical trials (associated diseases)

230 trials via MONDO — disease-level, not drug-specific.

Trial	Phase	Status	Title
NCT00332904	PHASE4	UNKNOWN	Effect of Betablocker or Aldosterone Antagonist Therapy on Patients With Liver Cirrhosis
NCT00369694	PHASE4	COMPLETED	Short Course Terlipressin for Control of Acute Variceal Bleeding
NCT00414713	PHASE4	UNKNOWN	Transfusion Requirements in Gastrointestinal (GI) Bleeding
NCT00450164	PHASE4	COMPLETED	Secondary Prophylaxis After Variceal Bleeding in Non-Responders
NCT00534677	PHASE4	COMPLETED	The Safety & Efficacy of Terlipressin vs Octreotide for the Control of Variceal Bleed
NCT00563602	PHASE4	UNKNOWN	Treatment for Prevention of Variceal Rebleeding Guided by the Hemodynamic Response
NCT00570622	PHASE4	COMPLETED	Effect of Pioglitazone on Portal and Systemic Hemodynamics in Patients With Advanced Cirrhosis
NCT01070641	PHASE4	UNKNOWN	RCT of Carvedilol Versus Variceal Band Ligation in the Primary Prophylaxis of Oesophageal Variceal Haemorrhage
NCT01842113	PHASE4	TERMINATED	Quality of Life and Nutritional Improvements in Cirrhotic Patients
NCT02344719	PHASE4	COMPLETED	Effect of Taurine on Portal Hemodynamics in Patients With Advanced Liver Cirrhosis
NCT02489045	PHASE4	COMPLETED	Noninvasive Subharmonic Aided Pressure Estimation of Portal Hypertension
NCT02907749	PHASE4	COMPLETED	Spironolactone on Fibrosis Progrssion-Portal Hypertension(FP-PH)in Cirrhosis
NCT02925975	PHASE4	UNKNOWN	Early Precise Diagnosis and Intervention of CPT Based on a Noninvasive 3D-vHPS
NCT02945956	PHASE4	UNKNOWN	Treatment of Low-grade Cirrhotic Portal Hypertension Due to Hepatitis B Virus With Fuzheng Huayu and Entecavir
NCT02945982	PHASE4	UNKNOWN	Treatment of Moderate and Severe Cirrhotic Portal Hypertension Due to HBV With Fuzheng Huayu and Entecavir
NCT02994485	PHASE4	COMPLETED	Evaluation Of The Portal Pressure By Doppler Ultrasound In Cirrhotic Patients Before And After Simvastatin
NCT04073290	PHASE4	RECRUITING	Prevention of Post-TIPS Hepatic Encephalopathy by Administration of Rifaximin and Lactulose
NCT04107428	PHASE4	UNKNOWN	Somatostatin in Living Donor Liver Transplantation
NCT05872698	PHASE4	ACTIVE_NOT_RECRUITING	Beta-blockers or Placebo for Primary Prophylaxis (BOPPP) of Oesophageal Varices Trial.
NCT06449339	PHASE4	RECRUITING	Non-selective Beta-blocker in Compensated Advanced Chronic Liver Disease
NCT07521332	PHASE4	RECRUITING	Apixaban-PK Trial: Preventing Portal Hypertension Complications in Cirrhosis
NCT00006398	PHASE3	COMPLETED	Prevention of Esophageal Varices by Beta-Adrenergic Blockers
NCT00331188	PHASE3	COMPLETED	Use of Sanvar® With Endoscopic Treatment for the Control of Acute Variceal Bleeding
NCT00493480	PHASE3	COMPLETED	Danish Carvedilol Study in Portal Hypertension
NCT00787436	PHASE3	WITHDRAWN	Secondary Prophylaxis of Gastrointestinal Bleeding in Cirrhotic Patients Using THALIDOMIDE
NCT01131962	PHASE3	COMPLETED	Comparing Two Methods to Stop Vomiting of Blood Using the Endoscope
NCT02134626	PHASE3	COMPLETED	Simvastatin Effect on Portal Hypertension
NCT02508623	PHASE3	UNKNOWN	Effect of Administration of Rifaximin on the Portal Pressure of Patients With Liver Cirrhosis and Esophageal Varices
NCT02975323	PHASE3	UNKNOWN	Doppler Ultrasound Hepatic Vein Waveform as a Non-invasive Tool in the Assessment of Severity of Portal Hypertension
NCT04010669	PHASE3	UNKNOWN	The Role of Somatostatin in the Hemodynamics of the Hepatic Circulation in Patients Undergoing Liver Resection
NCT05227833	PHASE3	COMPLETED	Vonoprazan Efficacy to Prevent Post Variceal Band Ligation Ulcer
NCT05470205	PHASE3	RECRUITING	Noninvasive Subharmonic Aided Pressure Estimation of Portal Hypertension; Renewal
NCT05794555	PHASE3	COMPLETED	LiveSMART Trial to Prevent Falls in Patients With Cirrhosis
NCT06434753	PHASE3	RECRUITING	Zinc Supplementation to Improve Prognosis in Patients With Compensated Advanced Chronic Liver Disease.
NCT00004796	PHASE2	COMPLETED	Phase II Study of Lactulose and Circadian Rhythms in Patients With Cirrhosis
NCT00414869	PHASE2	TERMINATED	Preliminary Efficacy and Tolerability of NCX-1000 After Repeated Oral Doses in Patients With Elevated Portal Pressure
NCT00594191	PHASE2	COMPLETED	Efficacy and Safety of Simvastatin in the Treatment of Portal Hypertension
NCT00737594	PHASE2	TERMINATED	Efficacy and Safety of Cobiprostone in Patients With Portal Hypertension
NCT01408966	PHASE2	COMPLETED	Effects of Dark vs. White Chocolate on the Postprandial Increase in Portal Pressure in Cirrhosis
NCT01687257	PHASE2	COMPLETED	Sofosbuvir and Ribavirin in Patients With Chronic HCV With Cirrhosis and Portal Hypertension With or Without Liver Decompensation