INHBE
gene geneOn this page
Also known as activinMGC4638
Summary
INHBE (inhibin subunit beta E, HGNC:24029) is a protein-coding gene on chromosome 12q13.3, encoding Inhibin beta E chain (P58166). Inhibins and activins inhibit and activate, respectively, the secretion of follitropin by the pituitary gland.
This gene encodes a member of the TGF-beta (transforming growth factor-beta) superfamily of proteins. The encoded preproprotein is proteolytically processed to generate an inhibin beta subunit. Inhibins have been implicated in regulating numerous cellular processes including cell proliferation, apoptosis, immune response and hormone secretion. This gene may be upregulated under conditions of endoplasmic reticulum stress, and this protein may inhibit cellular proliferation and growth in pancreas and liver.
Source: NCBI Gene 83729 — RefSeq curated summary.
At a glance
- GWAS associations: 7
- Clinical variants (ClinVar): 52 total
- MANE Select transcript:
NM_031479
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:24029 |
| Approved symbol | INHBE |
| Name | inhibin subunit beta E |
| Location | 12q13.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | activin, MGC4638 |
| Ensembl gene | ENSG00000139269 |
| Ensembl biotype | protein_coding |
| OMIM | 612031 |
| Entrez | 83729 |
Gene structure
Transcript identifiers
Ensembl transcripts: 6 — 3 protein_coding, 3 protein_coding_CDS_not_defined
ENST00000266646, ENST00000547970, ENST00000551553, ENST00000553033, ENST00000898806, ENST00000898807
RefSeq mRNA: 1 — MANE Select: NM_031479
NM_031479
CCDS: CCDS8939
Canonical transcript exons
ENST00000266646 — 2 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000937306 | 57455307 | 57455834 |
| ENSE00001278408 | 57456094 | 57458025 |
Expression profiles
Bgee: expression breadth ubiquitous, 108 present calls, max score 95.33.
FANTOM5 (CAGE): breadth broad, TPM avg 5.7222 / max 575.2982, expressed in 691 samples.
FANTOM5 promoters (7 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 126211 | 4.2397 | 605 |
| 126214 | 0.5194 | 159 |
| 126208 | 0.3251 | 94 |
| 126212 | 0.2457 | 97 |
| 126213 | 0.2352 | 89 |
| 126209 | 0.1107 | 33 |
| 126210 | 0.0464 | 23 |
Top tissues by expression
261 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| right lobe of liver | UBERON:0001114 | 95.33 | gold quality |
| liver | UBERON:0002107 | 94.02 | gold quality |
| stromal cell of endometrium | CL:0002255 | 72.51 | gold quality |
| gastrocnemius | UBERON:0001388 | 61.69 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 61.68 | gold quality |
| muscle of leg | UBERON:0001383 | 61.49 | gold quality |
| muscle organ | UBERON:0001630 | 58.53 | gold quality |
| islet of Langerhans | UBERON:0000006 | 55.61 | gold quality |
| cerebellar cortex | UBERON:0002129 | 54.06 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 53.93 | gold quality |
| cerebellum | UBERON:0002037 | 53.16 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 53.01 | gold quality |
| skeletal muscle tissue | UBERON:0001134 | 52.28 | gold quality |
| muscle tissue | UBERON:0002385 | 52.02 | gold quality |
| bone marrow cell | CL:0002092 | 51.60 | gold quality |
| pituitary gland | UBERON:0000007 | 50.21 | gold quality |
| Brodmann (1909) area 46 | UBERON:0006483 | 49.30 | gold quality |
| blood vessel layer | UBERON:0004797 | 49.29 | gold quality |
| quadriceps femoris | UBERON:0001377 | 49.25 | gold quality |
| adenohypophysis | UBERON:0002196 | 49.20 | gold quality |
| cervix squamous epithelium | UBERON:0006922 | 49.20 | gold quality |
| hair follicle | UBERON:0002073 | 49.18 | gold quality |
| cortex of kidney | UBERON:0001225 | 49.04 | gold quality |
| olfactory bulb | UBERON:0002264 | 48.92 | gold quality |
| choroid plexus epithelium | UBERON:0003911 | 48.89 | gold quality |
| myocardium | UBERON:0002349 | 48.87 | gold quality |
| type B pancreatic cell | CL:0000169 | 48.83 | gold quality |
| buccal mucosa cell | CL:0002336 | 48.67 | gold quality |
| vastus lateralis | UBERON:0001379 | 48.67 | gold quality |
| metanephros | UBERON:0000081 | 48.61 | silver quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): ATF4, ZNF804A
miRNA regulators (miRDB)
30 targeting INHBE, 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-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-126-5P | 100.00 | 72.71 | 3180 |
| HSA-MIR-4795-3P | 100.00 | 74.62 | 4024 |
| HSA-MIR-371B-5P | 99.99 | 75.34 | 4759 |
| HSA-MIR-373-5P | 99.98 | 75.36 | 4753 |
| HSA-MIR-616-5P | 99.98 | 75.58 | 4775 |
| HSA-MIR-548AN | 99.97 | 70.91 | 2817 |
| HSA-MIR-3658 | 99.96 | 73.87 | 4379 |
| HSA-MIR-6515-3P | 99.82 | 68.19 | 1933 |
| HSA-MIR-4713-5P | 99.78 | 67.80 | 1794 |
| HSA-MIR-580-3P | 99.67 | 69.23 | 1841 |
| HSA-MIR-1827 | 99.63 | 68.57 | 3265 |
| HSA-MIR-4797-5P | 99.39 | 68.01 | 1354 |
| HSA-MIR-4667-3P | 99.26 | 65.45 | 1608 |
| HSA-MIR-6734-3P | 99.15 | 66.27 | 1627 |
| HSA-MIR-661 | 99.09 | 65.94 | 2062 |
| HSA-MIR-4477A | 98.83 | 69.75 | 2952 |
| HSA-MIR-5006-5P | 98.79 | 66.92 | 1246 |
| HSA-MIR-619-3P | 98.38 | 65.58 | 693 |
| HSA-MIR-4436B-3P | 98.25 | 65.26 | 1494 |
| HSA-MIR-6735-5P | 98.24 | 65.36 | 1488 |
| HSA-MIR-7843-5P | 98.12 | 65.26 | 1421 |
| HSA-MIR-4469 | 97.93 | 65.81 | 1319 |
| HSA-MIR-1279 | 97.83 | 67.50 | 1898 |
| HSA-MIR-4632-5P | 97.82 | 65.38 | 1470 |
| HSA-MIR-6879-5P | 97.77 | 65.52 | 1521 |
| HSA-MIR-6748-3P | 97.20 | 65.66 | 836 |
| HSA-MIR-6747-5P | 96.17 | 64.99 | 743 |
| HSA-MIR-6846-3P | 94.80 | 65.19 | 389 |
| HSA-MIR-371B-3P | 94.48 | 66.59 | 345 |
Literature-anchored findings (GeneRIF, showing 12)
- cDNA cloning from a liver cDNA library, deduction of amino acid sequence, binding to follistatin, and analysis of the transcript in human liver (PMID:12242034)
- activin E has a role in regulating the proliferation of pancreatic exocrine cells (PMID:16426570)
- Expression of the inhibin betaC and betaE subunits was demonstrated at the protein level and at the transcriptional level in normal human endometrial tissue and in the Ishikawa human endometrial carcinoma cell line. (PMID:20012305)
- An immunolabelling of the inhibin-betaE subunit in normal and malignant cervical tissue, as well as cervical cancer cells, is demonstrated. (PMID:20033758)
- differential expression pattern of the betaC- and betaE-subunits in normal human endometrial tissue suggests that they function in endometrial maturation and blastocyst implantation. (PMID:21092084)
- The inhibin-betaC subunit is down-regulated, while inhibin-betaE is up-regulated by interferon-beta1a in Ishikawa carcinoma cell line. (PMID:23580013)
- Activin A, B, and AB have similar effects on steroidogenesis in human granulosa cells; in contrast, activin AC is not biologically active and does not act as a competitive antagonist. (PMID:25062451)
- INHBE functions as a possible hepatokine to alter the whole-body metabolic status under obese insulin-resistant condition (PMID:29596463)
- The Significance of INHBE Expression in the Cancer Cells of Clear-Cell Renal Cell Carcinoma. (PMID:34515260)
- Rare loss of function variants in the hepatokine gene INHBE protect from abdominal obesity. (PMID:35896531)
- Multiancestry exome sequencing reveals INHBE mutations associated with favorable fat distribution and protection from diabetes. (PMID:35999217)
- Identification and validation of INHBE and P4HA1 as hub genes in non-alcoholic fatty liver disease. (PMID:37922570)
Cross-species orthologs
2 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Inhbe | ENSMUSG00000047492 |
| rattus_norvegicus | Inhbe | ENSRNOG00000007601 |
Paralogs (31): TGFB2 (ENSG00000092969), BMP7 (ENSG00000101144), TGFB1 (ENSG00000105329), BMP5 (ENSG00000112175), BMP8B (ENSG00000116985), TGFB3 (ENSG00000119699), INHBA (ENSG00000122641), INHA (ENSG00000123999), BMP4 (ENSG00000125378), BMP2 (ENSG00000125845), GDF5 (ENSG00000125965), GDF1 (ENSG00000130283), BMP15 (ENSG00000130385), GDF15 (ENSG00000130513), GDF11 (ENSG00000135414), MSTN (ENSG00000138379), LEFTY2 (ENSG00000143768), GDF7 (ENSG00000143869), BMP3 (ENSG00000152785), BMP6 (ENSG00000153162), GDF6 (ENSG00000156466), NODAL (ENSG00000156574), INHBB (ENSG00000163083), BMP10 (ENSG00000163217), GDF9 (ENSG00000164404), INHBC (ENSG00000175189), BMP8A (ENSG00000183682), GDF3 (ENSG00000184344), LEFTY1 (ENSG00000243709), GDF2 (ENSG00000263761), GDF10 (ENSG00000266524)
Protein
Protein identifiers
Inhibin beta E chain — P58166 (reviewed: P58166)
Alternative names: Activin beta-E chain
All UniProt accessions (1): P58166
UniProt curated annotations — full annotation on UniProt →
Function. Inhibins and activins inhibit and activate, respectively, the secretion of follitropin by the pituitary gland. Inhibins/activins are involved in regulating a number of diverse functions such as hypothalamic and pituitary hormone secretion, gonadal hormone secretion, germ cell development and maturation, erythroid differentiation, insulin secretion, nerve cell survival, embryonic axial development or bone growth, depending on their subunit composition. Inhibins appear to oppose the functions of activins. Activin E is a homodimer of INHBE secreted by the liver that plays a crucial role in regulating metabolic homeostasis particularly in lipid metabolism and energy homeostasis. Plays a central role in the regulation of adipose tissue lipolysis by preventing the influx of fatty acids from adipose tissue into the liver. Mechanistically, signals via ACVR1C to activate SMAD2/3 signaling, suppressing PPARG target genes in adipose tissue, thereby reducing liver lipid content and improving glycemic control. Induces beige adipocyte formation and thermogenesis in response to cold exposure.
Subunit / interactions. Homodimeric or heterodimeric through association with alpha and beta subunits, linked by one or more disulfide bonds. Inhibins are heterodimers of one alpha and one beta subunit. Activins are homo- or heterodimers of beta subunits only.
Subcellular location. Secreted.
Similarity. Belongs to the TGF-beta family.
RefSeq proteins (1): NP_113667* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001318 | Inhibin_betaC | Family |
| IPR001839 | TGF-b_C | Domain |
| IPR015615 | TGF-beta-like | Family |
| IPR017948 | TGFb_CS | Conserved_site |
| IPR029034 | Cystine-knot_cytokine | Homologous_superfamily |
Pfam: PF00019
UniProt features (11 total): disulfide bond 5, sequence variant 2, signal peptide 1, propeptide 1, chain 1, glycosylation site 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P58166-F1 | 75.32 | 0.22 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Disulfide bonds (5): 240–248, 247–315, 276–347, 280–349, 314
Glycosylation sites (1): 198
Function
Pathways and Gene Ontology
Reactome pathways
4 pathways
| ID | Pathway |
|---|---|
| R-HSA-209822 | Glycoprotein hormones |
| R-HSA-209952 | Peptide hormone biosynthesis |
| R-HSA-2980736 | Peptide hormone metabolism |
| R-HSA-392499 | Metabolism of proteins |
MSigDB gene sets: 109 (showing top):
RODRIGUES_THYROID_CARCINOMA_ANAPLASTIC_UP, ACEVEDO_NORMAL_TISSUE_ADJACENT_TO_LIVER_TUMOR_DN, GOMF_GROWTH_FACTOR_ACTIVITY, TAL1ALPHAE47_01, GGGTGGRR_PAX4_03, ZHAN_MULTIPLE_MYELOMA_CD1_UP, GOBP_NEGATIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS, ACEVEDO_LIVER_TUMOR_VS_NORMAL_ADJACENT_TISSUE_DN, GATA1_01, GOMF_CYTOKINE_ACTIVITY, GOBP_NEGATIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS, NOJIMA_SFRP2_TARGETS_UP, GOBP_CONNECTIVE_TISSUE_DEVELOPMENT, HAN_SATB1_TARGETS_DN, GOMF_SIGNALING_RECEPTOR_BINDING
GO Biological Process (3): cell surface receptor protein serine/threonine kinase signaling pathway (GO:0007178), negative regulation of adipose tissue development (GO:1904178), activin receptor signaling pathway (GO:0032924)
GO Molecular Function (3): cytokine activity (GO:0005125), hormone activity (GO:0005179), growth factor activity (GO:0008083)
GO Cellular Component (3): obsolete extracellular space (GO:0005615), extracellular matrix (GO:0031012), extracellular region (GO:0005576)
Reactome top-level categories
Rollup of top-3 pathways:
| Category | Pathways |
|---|---|
| Peptide hormone biosynthesis | 1 |
| Peptide hormone metabolism | 1 |
| Metabolism of proteins | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| receptor ligand activity | 3 |
| enzyme-linked receptor protein signaling pathway | 1 |
| negative regulation of developmental process | 1 |
| negative regulation of multicellular organismal process | 1 |
| adipose tissue development | 1 |
| regulation of adipose tissue development | 1 |
| transforming growth factor beta receptor superfamily signaling pathway | 1 |
| external encapsulating structure | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
832 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| INHBE | VLDLR | P98155 | 739 |
| INHBE | FST | P19883 | 585 |
| INHBE | LRP8 | Q14114 | 557 |
| INHBE | YWHAQ | P27348 | 542 |
| INHBE | ACVR1C | Q8NER5 | 495 |
| INHBE | FZD4 | Q9ULV1 | 425 |
| INHBE | RELN | P78509 | 424 |
| INHBE | CACNG8 | Q8WXS5 | 417 |
| INHBE | MIOX | Q9UGB7 | 398 |
| INHBE | CHAC1 | Q9BUX1 | 393 |
| INHBE | WDR70 | Q9NW82 | 388 |
| INHBE | PTCH1 | Q13635 | 387 |
| INHBE | PTCH2 | Q9Y6C5 | 373 |
| INHBE | TBP | P20226 | 369 |
| INHBE | AMHR2 | Q16671 | 363 |
IntAct
38 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| C1QTNF9 | C1QTNF9B | psi-mi:“MI:0914”(association) | 0.780 |
| UST | GOLIM4 | psi-mi:“MI:0914”(association) | 0.530 |
| DKK3 | NME4 | psi-mi:“MI:0914”(association) | 0.530 |
| PLOD2 | psi-mi:“MI:0914”(association) | 0.530 | |
| C1QTNF9B | PLOD3 | psi-mi:“MI:0914”(association) | 0.530 |
| INHBE | HSPA5 | psi-mi:“MI:0914”(association) | 0.530 |
| NOTCH2 | ZNF316 | psi-mi:“MI:0914”(association) | 0.530 |
| APP | ZNF724 | psi-mi:“MI:0914”(association) | 0.350 |
| CPA2 | NME4 | psi-mi:“MI:0914”(association) | 0.350 |
| INHBE | MYO1F | psi-mi:“MI:0914”(association) | 0.350 |
| COLEC10 | PTX3 | psi-mi:“MI:0914”(association) | 0.350 |
| PDGFRA | GXYLT2 | psi-mi:“MI:0914”(association) | 0.350 |
| NOTCH2 | ZNF320 | psi-mi:“MI:0914”(association) | 0.350 |
| LLCFC1 | POTEF | psi-mi:“MI:0914”(association) | 0.350 |
| CCL3 | KRBA1 | psi-mi:“MI:0914”(association) | 0.350 |
| ST14 | LIPT2 | psi-mi:“MI:0914”(association) | 0.350 |
| SCGB2A2 | RTL8C | psi-mi:“MI:0914”(association) | 0.350 |
| PCDHGB5 | FAM171A2 | psi-mi:“MI:0914”(association) | 0.350 |
| SCAP | UPK3BL1 | psi-mi:“MI:0914”(association) | 0.350 |
| DKK3 | MYO9A | psi-mi:“MI:0914”(association) | 0.350 |
| FAM234A | IFRD1 | psi-mi:“MI:0914”(association) | 0.350 |
| C1orf54 | AGRN | psi-mi:“MI:0914”(association) | 0.350 |
| COLEC10 | PLOD2 | psi-mi:“MI:0914”(association) | 0.350 |
| TMPRSS13 | TOR1A | psi-mi:“MI:0914”(association) | 0.350 |
| HPN | TOR1A | psi-mi:“MI:0914”(association) | 0.350 |
| LY6H | NXPH4 | psi-mi:“MI:0914”(association) | 0.350 |
| WFDC6 | HSPA5 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (55): INHBE (Affinity Capture-RNA), INHBE (Affinity Capture-MS), INHBE (Affinity Capture-MS), INHBE (Affinity Capture-MS), INHBE (Affinity Capture-MS), INHBE (Affinity Capture-MS), VHL (Affinity Capture-MS), FAM169A (Affinity Capture-MS), HSPA5 (Affinity Capture-MS), MYO1F (Affinity Capture-MS), PRMT7 (Affinity Capture-MS), INHBE (Affinity Capture-MS), ANKRD46 (Affinity Capture-MS), INHBE (Affinity Capture-MS), INHBE (Affinity Capture-MS)
ESM2 similar proteins: A5PJ93, E9PY61, H2N4I1, O00391, O08717, P01180, P01183, P08833, P21743, P24591, P43031, P47876, P51693, P55103, P58166, Q03157, Q15904, Q28686, Q561R0, Q58CS8, Q5Q0T9, Q5RJL6, Q6AZ60, Q6IUU3, Q6PRD1, Q6Q484, Q6S5C2, Q75ZP3, Q80WF4, Q80YF6, Q864V4, Q8BND5, Q8C1Q4, Q8CAL5, Q8CEF9, Q8CG70, Q8CJ26, Q8IVL6, Q8JGM4, Q8K5A9
Diamond homologs: A8E7N9, G5EEL5, O08717, O18828, O18830, O19006, O42222, O46564, O46576, O88959, O95390, O95393, O95972, P03970, P07713, P07995, P08476, P09534, P12643, P12644, P12645, P18075, P18331, P20722, P20863, P21274, P21275, P22003, P22004, P22444, P23359, P25703, P27092, P27539, P30884, P30885, P30886, P34820, P34821, P34822
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| ZNF804A | “up-regulates quantity by expression” | INHBE | “transcriptional regulation” |
Disease & clinical
Clinical variants and AI predictions
ClinVar
52 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 47 |
| Likely benign | 3 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
162 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 12:57456088:G:A | acceptor_gain | 1.0000 |
| 12:57455781:G:GT | donor_gain | 0.9900 |
| 12:57456087:C:CA | acceptor_gain | 0.9900 |
| 12:57456092:A:AG | acceptor_gain | 0.9900 |
| 12:57456093:G:GG | acceptor_gain | 0.9900 |
| 12:57456080:T:A | acceptor_gain | 0.9800 |
| 12:57456090:GCAG:G | acceptor_loss | 0.9800 |
| 12:57456092:AGACT:A | acceptor_loss | 0.9800 |
| 12:57455807:G:GT | donor_gain | 0.9700 |
| 12:57456093:GACT:G | acceptor_gain | 0.9700 |
| 12:57455831:ACAG:A | donor_loss | 0.9600 |
| 12:57455832:CAGG:C | donor_loss | 0.9600 |
| 12:57455833:AGGT:A | donor_loss | 0.9600 |
| 12:57455834:GGT:G | donor_loss | 0.9600 |
| 12:57455835:G:GA | donor_loss | 0.9600 |
| 12:57455836:T:A | donor_loss | 0.9600 |
| 12:57456093:GA:G | acceptor_gain | 0.9600 |
| 12:57456093:GAC:G | acceptor_gain | 0.9600 |
| 12:57456093:GACTC:G | acceptor_gain | 0.9600 |
| 12:57455797:G:T | donor_gain | 0.9500 |
| 12:57456080:T:TA | acceptor_loss | 0.9500 |
| 12:57455833:AGGTG:A | donor_gain | 0.9300 |
| 12:57456088:GGGCA:G | acceptor_gain | 0.9200 |
| 12:57456089:GGCAG:G | acceptor_gain | 0.9200 |
| 12:57456090:GCAGA:G | acceptor_gain | 0.9200 |
| 12:57456091:CA:C | acceptor_gain | 0.9200 |
| 12:57456092:A:T | acceptor_gain | 0.9200 |
| 12:57456093:G:T | acceptor_gain | 0.9100 |
| 12:57455782:G:T | donor_gain | 0.8900 |
| 12:57455781:G:T | donor_gain | 0.8800 |
AlphaMissense
2222 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 12:57456562:T:G | F256C | 0.998 |
| 12:57456578:G:C | W261C | 0.997 |
| 12:57456578:G:T | W261C | 0.997 |
| 12:57456587:G:C | W264C | 0.997 |
| 12:57456587:G:T | W264C | 0.997 |
| 12:57456576:T:A | W261R | 0.992 |
| 12:57456576:T:C | W261R | 0.992 |
| 12:57456589:T:C | I265T | 0.992 |
| 12:57456621:T:A | C276S | 0.992 |
| 12:57456622:G:C | C276S | 0.992 |
| 12:57456623:C:G | C276W | 0.992 |
| 12:57456633:T:A | C280S | 0.992 |
| 12:57456634:G:C | C280S | 0.992 |
| 12:57456561:T:C | F256L | 0.991 |
| 12:57456563:C:A | F256L | 0.991 |
| 12:57456563:C:G | F256L | 0.991 |
| 12:57456622:G:A | C276Y | 0.991 |
| 12:57456562:T:C | F256S | 0.990 |
| 12:57456585:T:A | W264R | 0.989 |
| 12:57456585:T:C | W264R | 0.989 |
| 12:57456633:T:C | C280R | 0.989 |
| 12:57456739:G:A | C315Y | 0.989 |
| 12:57456835:G:A | C347Y | 0.989 |
| 12:57456738:T:A | C315S | 0.988 |
| 12:57456739:G:C | C315S | 0.988 |
| 12:57456774:T:G | Y327D | 0.988 |
| 12:57456840:T:A | C349S | 0.987 |
| 12:57456841:G:C | C349S | 0.987 |
| 12:57456606:T:G | Y271D | 0.986 |
| 12:57456622:G:T | C276F | 0.985 |
dbSNP variants (sampled 300 via entrez): RS1001654958 (12:57455059 G>A), RS1002404220 (12:57455676 C>G), RS1003400802 (12:57454220 C>G), RS1003610832 (12:57457905 A>G), RS1003640385 (12:57454626 C>T), RS1004901898 (12:57455099 GC>G), RS1005362844 (12:57455607 C>A), RS1005381126 (12:57456869 G>A), RS1005605852 (12:57454157 C>T), RS1005647635 (12:57456736 G>A), RS1005659710 (12:57453920 A>G), RS1005987312 (12:57455299 C>A,T), RS1006868105 (12:57453462 G>A), RS1007107036 (12:57453728 T>C), RS1007451921 (12:57454893 C>T)
Disease associations
OMIM: gene MIM:612031 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
7 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001791_11 | Urate levels | 2.000000e-25 |
| GCST004603_110 | Platelet count | 3.000000e-11 |
| GCST004862_96 | Itch intensity from mosquito bite adjusted by bite size | 6.000000e-06 |
| GCST006611_116 | HDL cholesterol | 7.000000e-11 |
| GCST90002400_718 | Plateletcrit | 5.000000e-13 |
| GCST90002402_134 | Platelet count | 1.000000e-19 |
| GCST90002404_139 | Red cell distribution width | 3.000000e-12 |
EFO canonical traits (7, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004531 | urate measurement |
| EFO:0004309 | platelet count |
| EFO:0008377 | mosquito bite reaction itch intensity measurement |
| EFO:0008378 | mosquito bite reaction size measurement |
| EFO:0004612 | high density lipoprotein cholesterol measurement |
| EFO:0007985 | platelet crit |
| EFO:0009188 | Red cell distribution width |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
125 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Cyclosporine | affects expression, decreases expression, increases expression | 7 |
| Benzo(a)pyrene | decreases expression, increases methylation | 5 |
| Aflatoxin B1 | affects expression, decreases expression | 5 |
| sodium arsenite | increases expression, decreases expression | 4 |
| Amiodarone | increases expression | 4 |
| Estradiol | affects cotreatment, decreases expression, increases reaction, increases expression | 4 |
| Tunicamycin | increases expression | 4 |
| Valproic Acid | increases expression, affects expression, decreases expression | 4 |
| Amitriptyline | increases expression | 3 |
| Fluoxetine | increases expression | 3 |
| Ketoconazole | increases expression | 3 |
| Tetrachlorodibenzodioxin | affects cotreatment, decreases expression | 3 |
| bisphenol A | affects expression, increases expression | 2 |
| perfluorooctanoic acid | increases expression | 2 |
| S-(1,2-dichlorovinyl)cysteine | affects cotreatment, increases expression | 2 |
| mercuric bromide | increases expression, affects cotreatment | 2 |
| azoxystrobin | decreases expression | 2 |
| entinostat | increases expression, affects cotreatment | 2 |
| bisphenol S | decreases expression | 2 |
| Panobinostat | affects cotreatment, increases expression | 2 |
| Acetaminophen | decreases expression, increases expression | 2 |
| Chlorpromazine | increases expression | 2 |
| Clomipramine | increases expression | 2 |
| Clozapine | increases expression | 2 |
| Drugs, Chinese Herbal | increases expression | 2 |
| Flecainide | increases expression | 2 |
| Imipramine | increases expression | 2 |
| Phenylmercuric Acetate | affects cotreatment, increases expression | 2 |
| Tamoxifen | increases expression | 2 |
| Thioridazine | increases expression | 2 |
Cellosaurus cell lines
1 cell lines: 1 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_D7SA | Ubigene A-549 INHBE KO | Cancer cell line | Male |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.