EVA1A
gene geneOn this page
Also known as FLJ13391
Summary
EVA1A (eva-1 homolog A, regulator of programmed cell death, HGNC:25816) is a protein-coding gene on chromosome 2p12, encoding Protein eva-1 homolog A (Q9H8M9). Acts as a regulator of programmed cell death, mediating both autophagy and apoptosis.
Predicted to act upstream of or within several processes, including TOR signaling; cardiac left ventricle morphogenesis; and connective tissue replacement. Located in intracellular membrane-bounded organelle and plasma membrane.
Source: NCBI Gene 84141 — RefSeq curated summary.
At a glance
- GWAS associations: 6
- Clinical variants (ClinVar): 51 total
- MANE Select transcript:
NM_001135032
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:25816 |
| Approved symbol | EVA1A |
| Name | eva-1 homolog A, regulator of programmed cell death |
| Location | 2p12 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ13391 |
| Ensembl gene | ENSG00000115363 |
| Ensembl biotype | protein_coding |
| OMIM | 618990 |
| Entrez | 84141 |
Gene structure
Transcript identifiers
Ensembl transcripts: 67 — 63 protein_coding, 4 protein_coding_CDS_not_defined
ENST00000233712, ENST00000393913, ENST00000410010, ENST00000410071, ENST00000410113, ENST00000432649, ENST00000452003, ENST00000485891, ENST00000486489, ENST00000486696, ENST00000490746, ENST00000910257, ENST00000910258, ENST00000910259, ENST00000910260, ENST00000910261, ENST00000910262, ENST00000910263, ENST00000910264, ENST00000910265, ENST00000910266, ENST00000910267, ENST00000910268, ENST00000910269, ENST00000910270, ENST00000910271, ENST00000910272, ENST00000910273, ENST00000910274, ENST00000910275, ENST00000910276, ENST00000910277, ENST00000910278, ENST00000910279, ENST00000910280, ENST00000910281, ENST00000910282, ENST00000910283, ENST00000910284, ENST00000910285, ENST00000910286, ENST00000910287, ENST00000910288, ENST00000910289, ENST00000910290, ENST00000910291, ENST00000910292, ENST00000910293, ENST00000910294, ENST00000910295, ENST00000910296, ENST00000910297, ENST00000910298, ENST00000910299, ENST00000910300, ENST00000910301, ENST00000910302, ENST00000910303, ENST00000910304, ENST00000910305, ENST00000940185, ENST00000940186, ENST00000956454, ENST00000956455, ENST00000956456, ENST00000956457, ENST00000956458
RefSeq mRNA: 4 — MANE Select: NM_001135032
NM_001135032, NM_001369524, NM_001369525, NM_032181
CCDS: CCDS1959
Canonical transcript exons
ENST00000393913 — 4 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000846784 | 75492318 | 75493609 |
| ENSE00001045434 | 75522365 | 75522487 |
| ENSE00001949001 | 75560680 | 75560939 |
| ENSE00003649888 | 75518056 | 75518208 |
Expression profiles
Bgee: expression breadth ubiquitous, 165 present calls, max score 95.79.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 14.4590 / max 155.1186, expressed in 1179 samples.
FANTOM5 promoters (10 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 29276 | 8.3532 | 1112 |
| 29278 | 5.6785 | 938 |
| 29275 | 0.2083 | 121 |
| 29277 | 0.0858 | 22 |
| 29273 | 0.0471 | 10 |
| 29281 | 0.0284 | 12 |
| 29272 | 0.0249 | 7 |
| 29280 | 0.0218 | 12 |
| 29274 | 0.0097 | 6 |
| 29279 | 0.0013 | 2 |
Top tissues by expression
254 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| right lobe of liver | UBERON:0001114 | 95.79 | gold quality |
| cartilage tissue | UBERON:0002418 | 93.95 | gold quality |
| liver | UBERON:0002107 | 93.68 | gold quality |
| body of pancreas | UBERON:0001150 | 91.08 | gold quality |
| metanephros cortex | UBERON:0010533 | 86.90 | gold quality |
| pancreas | UBERON:0001264 | 86.51 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 85.66 | gold quality |
| adult mammalian kidney | UBERON:0000082 | 85.52 | gold quality |
| upper lobe of lung | UBERON:0008948 | 84.72 | gold quality |
| placenta | UBERON:0001987 | 84.37 | gold quality |
| spleen | UBERON:0002106 | 82.59 | gold quality |
| right lung | UBERON:0002167 | 81.82 | gold quality |
| lung | UBERON:0002048 | 81.44 | gold quality |
| stromal cell of endometrium | CL:0002255 | 81.39 | gold quality |
| islet of Langerhans | UBERON:0000006 | 81.35 | gold quality |
| kidney | UBERON:0002113 | 80.00 | gold quality |
| cortex of kidney | UBERON:0001225 | 79.63 | gold quality |
| endocervix | UBERON:0000458 | 78.85 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 74.99 | gold quality |
| palpebral conjunctiva | UBERON:0001812 | 74.96 | gold quality |
| metanephros | UBERON:0000081 | 74.09 | gold quality |
| pancreatic ductal cell | CL:0002079 | 73.91 | silver quality |
| right uterine tube | UBERON:0001302 | 73.40 | gold quality |
| lower lobe of lung | UBERON:0008949 | 72.40 | gold quality |
| tibialis anterior | UBERON:0001385 | 71.90 | silver quality |
| caput epididymis | UBERON:0004358 | 71.62 | gold quality |
| parotid gland | UBERON:0001831 | 71.47 | gold quality |
| corpus epididymis | UBERON:0004359 | 71.43 | gold quality |
| ectocervix | UBERON:0012249 | 71.43 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 71.21 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 14.54 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
57 targeting EVA1A, 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-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-103A-3P | 99.98 | 69.14 | 1595 |
| HSA-MIR-107 | 99.98 | 69.14 | 1595 |
| HSA-MIR-433-3P | 99.98 | 69.37 | 1203 |
| HSA-MIR-12136 | 99.98 | 72.81 | 5713 |
| HSA-MIR-607 | 99.97 | 73.62 | 5593 |
| HSA-MIR-1250-3P | 99.96 | 70.04 | 4038 |
| HSA-MIR-335-3P | 99.93 | 73.36 | 4958 |
| HSA-MIR-515-5P | 99.92 | 69.82 | 2343 |
| HSA-MIR-519E-5P | 99.92 | 69.62 | 2358 |
| HSA-MIR-450B-5P | 99.92 | 71.48 | 3175 |
| HSA-MIR-627-3P | 99.90 | 71.42 | 3316 |
| HSA-MIR-3671 | 99.90 | 73.04 | 3897 |
| HSA-MIR-380-3P | 99.89 | 70.18 | 1978 |
| HSA-MIR-3065-3P | 99.87 | 70.25 | 1407 |
| HSA-MIR-374C-5P | 99.80 | 72.06 | 2910 |
| HSA-MIR-655-3P | 99.80 | 72.19 | 2909 |
| HSA-MIR-4319 | 99.76 | 69.83 | 2586 |
| HSA-MIR-2116-3P | 99.74 | 64.32 | 889 |
| HSA-MIR-4306 | 99.72 | 70.50 | 3630 |
| HSA-MIR-33A-3P | 99.70 | 70.27 | 3362 |
| HSA-MIR-7154-5P | 99.69 | 70.52 | 1900 |
| HSA-MIR-6134 | 99.63 | 65.68 | 1537 |
| HSA-MIR-1290 | 99.59 | 69.90 | 2079 |
| HSA-MIR-519D-5P | 99.41 | 69.30 | 2057 |
| HSA-MIR-125A-5P | 99.36 | 70.59 | 1640 |
| HSA-MIR-125B-5P | 99.36 | 70.36 | 1662 |
| HSA-MIR-584-3P | 99.35 | 67.69 | 1082 |
| HSA-MIR-185-5P | 99.35 | 68.60 | 2497 |
Literature-anchored findings (GeneRIF, showing 17)
- TMEM166 is a novel regulator involved in both autophagy and apoptosis. (PMID:17492404)
- TMEM166 expression was widely down-regulated in the cancer tissues. (PMID:22495369)
- Low TMEM166 mRNA and protein expression is associated with esophageal squamous cell carcinoma. (PMID:23098460)
- The adenovirus-mediated increase of FAM176A inhibited the growth of the tumor cells. (PMID:24257118)
- EVA1A interacts with the WD repeats of ATG16L1 through its C-terminal and promotes ATG12-ATG5/ATG16L1 complex recruitment to the autophagic membrane and enhances the formation of the autophagosome. (PMID:27490928)
- Low EVA1A expression is associated with glioblastoma. (PMID:28185834)
- results suggest that miR-125b plays a role in the resistance of HCC cells to chemotherapy via a mechanism involving the downregulation of EVA1A-mediated autophagy. (PMID:29749374)
- Myc/Max dependent intronic long antisense noncoding RNA, EVA1A-AS, suppresses the expression of Myc/Max dependent anti-proliferating gene EVA1A in a U2 dependent manner. (PMID:31754186)
- Eva1a ameliorates atherosclerosis by promoting re-endothelialization of injured arteries via Rac1/Cdc42/Arpc1b. (PMID:31977009)
- Eva-1 homolog A promotes papillary thyroid cancer progression and epithelial-mesenchymal transition via the Hippo signalling pathway. (PMID:32969138)
- Transmembrane Protein 166 and its Significance. (PMID:33006534)
- TMEM166 inhibits cell proliferation, migration and invasion in hepatocellular carcinoma via upregulating TP53. (PMID:33200377)
- Eva1a inhibits NLRP3 activation to reduce liver ischemia-reperfusion injury via inducing autophagy in kupffer cells. (PMID:33556710)
- The Degradation of TMEM166 by Autophagy Promotes AMPK Activation to Protect SH-SY5Y Cells Exposed to MPP(). (PMID:36078115)
- Down-regulation of EVA1A by miR-103a-3p promotes hepatocellular carcinoma cells proliferation and migration. (PMID:36273122)
- EVA1A (Eva-1 Homolog A) Promotes Endothelial Apoptosis and Inflammatory Activation Under Disturbed Flow Via Regulation of Autophagy. (PMID:36794585)
- Increased TMEM166 Level in Patients with Postoperative Stroke after Carotid Endarterectomy. (PMID:38734302)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | eva1a | ENSDARG00000061405 |
| danio_rerio | EVA1A | ENSDARG00000067927 |
| mus_musculus | Eva1a | ENSMUSG00000035104 |
| rattus_norvegicus | Eva1a | ENSRNOG00000007118 |
Paralogs (1): EVA1B (ENSG00000142694)
Protein
Protein identifiers
Protein eva-1 homolog A — Q9H8M9 (reviewed: Q9H8M9)
Alternative names: Protein FAM176A, Transmembrane protein 166
All UniProt accessions (4): Q9H8M9, B8ZZF5, C9J5M4, C9JX09
UniProt curated annotations — full annotation on UniProt →
Function. Acts as a regulator of programmed cell death, mediating both autophagy and apoptosis.
Subcellular location. Endoplasmic reticulum membrane. Lysosome membrane.
Tissue specificity. Expressed in lung, kidney, liver, pancreas, placenta, but not in heart and skeletal muscle.
Similarity. Belongs to the EVA1 family.
RefSeq proteins (4): NP_001128504, NP_001356453, NP_001356454, NP_115557 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR039500 | EVA1_dom | Domain |
| IPR052461 | EVA1_A/B | Family |
Pfam: PF14851
UniProt features (9 total): region of interest 2, modified residue 2, chain 1, transmembrane region 1, compositionally biased region 1, sequence variant 1, sequence conflict 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9H8M9-F1 | 64.06 | 0.10 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Post-translational modifications (2): 106, 114
Function
Pathways and Gene Ontology
Reactome pathways
2 pathways
| ID | Pathway |
|---|---|
| R-HSA-381426 | Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) |
| R-HSA-8957275 | Post-translational protein phosphorylation |
MSigDB gene sets: 111 (showing top):
GOBP_CARDIAC_CHAMBER_DEVELOPMENT, RODRIGUES_THYROID_CARCINOMA_ANAPLASTIC_UP, HNF3ALPHA_Q6, GOBP_CARDIAC_LEFT_VENTRICLE_MORPHOGENESIS, GOBP_CARDIAC_CHAMBER_MORPHOGENESIS, GOCC_VACUOLAR_MEMBRANE, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GOBP_GENERATION_OF_PRECURSOR_METABOLITES_AND_ENERGY, GOBP_ANIMAL_ORGAN_MORPHOGENESIS, SHETH_LIVER_CANCER_VS_TXNIP_LOSS_PAM4, GOBP_HEART_MORPHOGENESIS, OCT1_03, GOBP_CARDIAC_VENTRICLE_MORPHOGENESIS, GOBP_CARDIAC_VENTRICLE_DEVELOPMENT, AFP1_Q6
GO Biological Process (9): cardiac left ventricle morphogenesis (GO:0003214), energy reserve metabolic process (GO:0006112), autophagy (GO:0006914), apoptotic process (GO:0006915), post-embryonic development (GO:0009791), lung development (GO:0030324), TOR signaling (GO:0031929), connective tissue replacement (GO:0097709), heart development (GO:0007507)
GO Molecular Function (1): protein binding (GO:0005515)
GO Cellular Component (7): lysosomal membrane (GO:0005765), endoplasmic reticulum lumen (GO:0005788), endoplasmic reticulum membrane (GO:0005789), plasma membrane (GO:0005886), lysosome (GO:0005764), endoplasmic reticulum (GO:0005783), membrane (GO:0016020)
Reactome top-level categories
Rollup of top-2 pathways:
| Category | Pathways |
|---|---|
| Metabolism of proteins | 1 |
| Post-translational protein modification | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| animal organ development | 2 |
| cardiac ventricle morphogenesis | 1 |
| energy derivation by oxidation of organic compounds | 1 |
| catabolic process | 1 |
| transmembrane transport | 1 |
| process utilizing autophagic mechanism | 1 |
| programmed cell death | 1 |
| apoptotic signaling pathway | 1 |
| execution phase of apoptosis | 1 |
| multicellular organism development | 1 |
| multicellular organismal process | 1 |
| respiratory tube development | 1 |
| respiratory system development | 1 |
| intracellular signal transduction | 1 |
| tissue remodeling | 1 |
| circulatory system development | 1 |
| binding | 1 |
| lysosome | 1 |
| lytic vacuole membrane | 1 |
| endoplasmic reticulum | 1 |
| intracellular organelle lumen | 1 |
| organelle membrane | 1 |
| nuclear outer membrane-endoplasmic reticulum membrane network | 1 |
| endoplasmic reticulum subcompartment | 1 |
| membrane | 1 |
| cell periphery | 1 |
| lytic vacuole | 1 |
| cytoplasm | 1 |
| endomembrane system | 1 |
| intracellular membrane-bounded organelle | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
572 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| EVA1A | ATG16L1 | Q676U5 | 622 |
| EVA1A | MPZL2 | O60487 | 610 |
| EVA1A | ATG5 | Q9H1Y0 | 533 |
| EVA1A | OSBPL3 | Q9H4L5 | 500 |
| EVA1A | TM9SF1 | O15321 | 479 |
| EVA1A | ATG4B | Q9Y4P1 | 475 |
| EVA1A | SQSTM1 | Q13501 | 474 |
| EVA1A | GCFC2 | P16383 | 468 |
| EVA1A | TMEM59 | Q9BXS4 | 467 |
| EVA1A | AGBL5 | Q8NDL9 | 436 |
| EVA1A | NBR1 | Q14596 | 429 |
| EVA1A | ARPC1B | O15143 | 427 |
| EVA1A | OSBPL6 | Q9BZF3 | 425 |
| EVA1A | ATG13 | O75143 | 424 |
| EVA1A | CASP3 | P42574 | 423 |
IntAct
24 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| GYPA | EVA1A | psi-mi:“MI:0915”(physical association) | 0.670 |
| GYPA | TCAF2 | psi-mi:“MI:0914”(association) | 0.640 |
| SGTB | EVA1A | psi-mi:“MI:0915”(physical association) | 0.560 |
| MS4A13 | EVA1A | psi-mi:“MI:0915”(physical association) | 0.560 |
| TSPAN4 | EVA1A | psi-mi:“MI:0915”(physical association) | 0.560 |
| EDA | AP3B1 | psi-mi:“MI:0914”(association) | 0.530 |
| psi-mi:“MI:0914”(association) | 0.350 | ||
| BSCL2 | QSOX1 | psi-mi:“MI:0914”(association) | 0.350 |
| EFNB2 | TCAF2 | psi-mi:“MI:0914”(association) | 0.350 |
| P2RY1 | GPC4 | psi-mi:“MI:0914”(association) | 0.350 |
| PACC1 | IPO5 | psi-mi:“MI:0914”(association) | 0.350 |
| EVA1A | MTNR1B | psi-mi:“MI:0915”(physical association) | 0.000 |
| EVA1A | SGTB | psi-mi:“MI:0915”(physical association) | 0.000 |
| GYPA | EVA1A | psi-mi:“MI:0915”(physical association) | 0.000 |
| MS4A13 | EVA1A | psi-mi:“MI:0915”(physical association) | 0.000 |
| TSPAN4 | EVA1A | psi-mi:“MI:0915”(physical association) | 0.000 |
| EVA1A | PTN | psi-mi:“MI:0915”(physical association) | 0.000 |
| EVA1A | SUMO2 | psi-mi:“MI:0915”(physical association) | 0.000 |
| SAT1 | EVA1A | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (17): EVA1A (Two-hybrid), ATG16L1 (Reconstituted Complex), ATG16L1 (Affinity Capture-Western), MAP1LC3B (Reconstituted Complex), EVA1A (Positive Genetic), EVA1A (Proximity Label-MS), EVA1A (Two-hybrid), PTN (Two-hybrid), GYPA (Two-hybrid), SGTB (Two-hybrid), MS4A13 (Two-hybrid), TSPAN4 (Two-hybrid), LAMP2 (Co-fractionation), EVA1A (Co-fractionation), EVA1A (Co-fractionation)
ESM2 similar proteins: A0A1B0GU71, A6QPI4, B2RV13, D4A6L0, E1BBQ2, F1LQY6, G3UW36, O08856, P15382, P53801, P55199, P56182, Q08CB3, Q0VF94, Q148E1, Q17RQ9, Q2KJ58, Q32Q90, Q4R5F9, Q4V8A6, Q4VA36, Q5I0I4, Q5NVI6, Q5R8Q2, Q5T6X4, Q5T848, Q5XII8, Q68EN5, Q6P767, Q8C419, Q8CHT6, Q8R143, Q8R1T1, Q8TBN0, Q8VDV3, Q8WUX9, Q90YH8, Q91WM6, Q91ZP9, Q96IL0
Diamond homologs: O88917, O88923, O94910, O95490, O97817, O97827, O97831, P58658, P58659, P86178, Q08CB3, Q68US5, Q80TR1, Q80TS3, Q8JZZ7, Q8K2Y3, Q91WM6, Q9H8M9, Q9HAR2, Q9NVM1, Q9SCV9, Q9XU98, Q9Z173, B3MFV7, B3N8M1, B4HS00, B4J780, B4KMZ1, B4P3A0, Q292N4
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
51 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 38 |
| Likely benign | 4 |
| Benign | 3 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
956 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 2:75518051:CCTA:C | donor_loss | 1.0000 |
| 2:75518052:CTA:C | donor_loss | 1.0000 |
| 2:75518053:TAC:T | donor_loss | 1.0000 |
| 2:75518054:ACC:A | donor_loss | 1.0000 |
| 2:75518055:CCTG:C | donor_loss | 1.0000 |
| 2:75493610:C:CC | acceptor_gain | 0.9900 |
| 2:75518204:CTCTT:C | acceptor_gain | 0.9900 |
| 2:75518206:CTT:C | acceptor_gain | 0.9900 |
| 2:75518207:TT:T | acceptor_gain | 0.9900 |
| 2:75518209:C:CC | acceptor_gain | 0.9900 |
| 2:75518213:T:C | acceptor_gain | 0.9900 |
| 2:75522351:ATC:A | donor_gain | 0.9900 |
| 2:75522486:CT:C | acceptor_gain | 0.9900 |
| 2:75558636:A:C | donor_gain | 0.9900 |
| 2:75560674:TCTTA:T | donor_loss | 0.9900 |
| 2:75560675:CTTAC:C | donor_loss | 0.9900 |
| 2:75560676:TTA:T | donor_loss | 0.9900 |
| 2:75560677:TA:T | donor_loss | 0.9900 |
| 2:75560678:ACCT:A | donor_loss | 0.9900 |
| 2:75493606:TTTT:T | acceptor_gain | 0.9800 |
| 2:75493606:TTTTC:T | acceptor_loss | 0.9800 |
| 2:75493607:TTT:T | acceptor_gain | 0.9800 |
| 2:75493608:TTCT:T | acceptor_loss | 0.9800 |
| 2:75493609:TCTG:T | acceptor_loss | 0.9800 |
| 2:75493610:CT:C | acceptor_loss | 0.9800 |
| 2:75493611:T:A | acceptor_loss | 0.9800 |
| 2:75517531:TTGA:T | donor_gain | 0.9800 |
| 2:75518050:ACCT:A | donor_loss | 0.9800 |
| 2:75518207:TTC:T | acceptor_loss | 0.9800 |
| 2:75518208:TC:T | acceptor_loss | 0.9800 |
AlphaMissense
0 scored. Top likely-pathogenic:
dbSNP variants (sampled 300 via entrez): RS1000005417 (2:75540810 T>C), RS1000078635 (2:75552946 A>T), RS1000103183 (2:75492803 T>C), RS1000140244 (2:75569401 C>G,T), RS1000142590 (2:75517455 C>G,T), RS1000147106 (2:75528193 A>T), RS1000151585 (2:75511787 C>A), RS1000197533 (2:75522571 C>T), RS1000217501 (2:75521734 G>T), RS1000247092 (2:75551470 C>G), RS1000302108 (2:75557981 C>A), RS1000321131 (2:75518451 G>C,T), RS1000367177 (2:75565245 C>T), RS1000385542 (2:75524935 T>A), RS1000388335 (2:75504709 A>C)
Disease associations
OMIM: gene MIM:618990 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
6 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001762_51 | Obesity-related traits | 6.000000e-06 |
| GCST001872_5 | Presence of antiphospholipid antibodies | 5.000000e-06 |
| GCST002875_158 | Diisocyanate-induced asthma | 4.000000e-09 |
| GCST005655_3 | Seborrheic dermatitis | 1.000000e-07 |
| GCST007576_126 | Chronotype | 1.000000e-09 |
| GCST010277_16 | Gout | 9.000000e-07 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0006995 | response to diisocyanate |
| EFO:0008328 | chronotype measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
51 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Cyclosporine | increases expression, decreases expression, affects cotreatment, decreases reaction | 4 |
| Benzo(a)pyrene | affects methylation, decreases expression | 3 |
| bisphenol A | decreases expression, affects cotreatment | 2 |
| (+)-JQ1 compound | decreases expression | 2 |
| Dexamethasone | decreases expression, affects cotreatment | 2 |
| Aflatoxin B1 | affects expression, decreases expression | 2 |
| Particulate Matter | decreases expression, increases abundance, increases expression | 2 |
| FR900359 | increases phosphorylation | 1 |
| quercitrin | decreases expression | 1 |
| trichostatin A | increases expression | 1 |
| arsenite | affects binding, increases reaction | 1 |
| sodium arsenite | decreases expression | 1 |
| S-(1,2-dichlorovinyl)cysteine | decreases reaction, affects cotreatment, increases expression | 1 |
| perfluorooctane sulfonic acid | decreases expression | 1 |
| K 7174 | decreases expression | 1 |
| ICG 001 | increases expression | 1 |
| darinaparsin | increases expression | 1 |
| bisphenol S | affects cotreatment, decreases expression | 1 |
| jinfukang | affects cotreatment, decreases expression | 1 |
| NSC 689534 | increases expression | 1 |
| Zoledronic Acid | decreases expression | 1 |
| Leflunomide | increases expression | 1 |
| Acetaminophen | decreases expression | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
| Arsenic | affects methylation | 1 |
| Caffeine | decreases phosphorylation | 1 |
| Calcitriol | decreases expression | 1 |
| Carbonyl Cyanide m-Chlorophenyl Hydrazone | affects cotreatment, increases localization | 1 |
| Chloroquine | decreases expression, decreases reaction, increases degradation | 1 |
| Cisplatin | affects cotreatment, decreases expression | 1 |
Cellosaurus cell lines
1 cell lines: 1 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_E0CX | Ubigene HeLa EVA1A KO | Cancer cell line | Female |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): gout, seborrheic dermatitis