EFNA3
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Also known as LERK3Ehk1-L
Summary
EFNA3 (ephrin A3, HGNC:3223) is a protein-coding gene on chromosome 1q21.3, encoding Ephrin-A3 (P52797). Cell surface GPI-bound ligand for Eph receptors, a family of receptor tyrosine kinases which are crucial for migration, repulsion and adhesion during neuronal, vascular and epithelial development.
This gene encodes a member of the ephrin (EPH) family. The ephrins and EPH-related receptors comprise the largest subfamily of receptor protein-tyrosine kinases and have been implicated in mediating developmental events, especially in the nervous system and in erythropoiesis. Based on their structures and sequence relationships, ephrins are divided into the ephrin-A (EFNA) class, which are anchored to the membrane by a glycosylphosphatidylinositol linkage, and the ephrin-B (EFNB) class, which are transmembrane proteins. This gene encodes an EFNA class ephrin.
Source: NCBI Gene 1944 — RefSeq curated summary.
At a glance
- GWAS associations: 21
- Clinical variants (ClinVar): 32 total
- MANE Select transcript:
NM_004952
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:3223 |
| Approved symbol | EFNA3 |
| Name | ephrin A3 |
| Location | 1q21.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | LERK3, Ehk1-L |
| Ensembl gene | ENSG00000143590 |
| Ensembl biotype | protein_coding |
| OMIM | 601381 |
| Entrez | 1944 |
Gene structure
Transcript identifiers
Ensembl transcripts: 5 — 3 protein_coding, 2 protein_coding_CDS_not_defined
ENST00000368408, ENST00000470294, ENST00000498667, ENST00000865007, ENST00000922316
RefSeq mRNA: 1 — MANE Select: NM_004952
NM_004952
CCDS: CCDS1090
Canonical transcript exons
ENST00000368408 — 5 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001447060 | 155078837 | 155079069 |
| ENSE00001956523 | 155086413 | 155087538 |
| ENSE00003551944 | 155085091 | 155085404 |
| ENSE00003628618 | 155086128 | 155086205 |
| ENSE00003659952 | 155085877 | 155085942 |
Expression profiles
Bgee: expression breadth ubiquitous, 217 present calls, max score 96.12.
FANTOM5 (CAGE): breadth broad, TPM avg 2.4385 / max 126.2471, expressed in 606 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 5567 | 2.2318 | 590 |
| 5568 | 0.2067 | 120 |
Top tissues by expression
271 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| skin of leg | UBERON:0001511 | 96.12 | gold quality |
| skin of abdomen | UBERON:0001416 | 95.69 | gold quality |
| upper arm skin | UBERON:0004263 | 94.86 | silver quality |
| lower esophagus mucosa | UBERON:0035834 | 94.30 | gold quality |
| zone of skin | UBERON:0000014 | 93.97 | gold quality |
| tongue squamous epithelium | UBERON:0006919 | 93.60 | silver quality |
| hair follicle | UBERON:0002073 | 92.06 | silver quality |
| cortical plate | UBERON:0005343 | 91.13 | gold quality |
| CA1 field of hippocampus | UBERON:0003881 | 90.16 | silver quality |
| diaphragm | UBERON:0001103 | 89.05 | gold quality |
| cervix epithelium | UBERON:0004801 | 88.53 | silver quality |
| orbitofrontal cortex | UBERON:0004167 | 88.23 | gold quality |
| cervix squamous epithelium | UBERON:0006922 | 88.08 | silver quality |
| prefrontal cortex | UBERON:0000451 | 88.04 | gold quality |
| esophagus mucosa | UBERON:0002469 | 87.39 | gold quality |
| parotid gland | UBERON:0001831 | 87.14 | silver quality |
| nucleus accumbens | UBERON:0001882 | 86.93 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 86.60 | gold quality |
| Brodmann (1909) area 46 | UBERON:0006483 | 86.29 | gold quality |
| right frontal lobe | UBERON:0002810 | 86.21 | gold quality |
| frontal cortex | UBERON:0001870 | 86.10 | gold quality |
| lateral nuclear group of thalamus | UBERON:0002736 | 86.03 | silver quality |
| neocortex | UBERON:0001950 | 85.54 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 85.25 | gold quality |
| gingival epithelium | UBERON:0001949 | 85.20 | silver quality |
| cingulate cortex | UBERON:0003027 | 84.94 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 84.92 | gold quality |
| putamen | UBERON:0001874 | 84.69 | gold quality |
| gingiva | UBERON:0001828 | 84.61 | gold quality |
| triceps brachii | UBERON:0001509 | 84.52 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 5.90 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): DICER1
miRNA regulators (miRDB)
79 targeting EFNA3, 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-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-3925-3P | 100.00 | 69.95 | 1237 |
| HSA-MIR-30A-5P | 100.00 | 76.31 | 3233 |
| HSA-MIR-30B-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30C-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30D-5P | 100.00 | 76.32 | 3233 |
| HSA-MIR-30E-5P | 100.00 | 76.32 | 3242 |
| HSA-MIR-6798-5P | 100.00 | 65.77 | 699 |
| HSA-MIR-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-3120-5P | 100.00 | 65.56 | 965 |
| HSA-MIR-5196-5P | 100.00 | 67.98 | 2761 |
| HSA-MIR-4747-5P | 100.00 | 67.90 | 2681 |
| HSA-MIR-493-5P | 99.96 | 72.47 | 2382 |
| HSA-MIR-4725-3P | 99.96 | 69.53 | 2520 |
| HSA-MIR-6780B-5P | 99.96 | 69.60 | 2562 |
| HSA-MIR-6778-3P | 99.96 | 67.29 | 2693 |
| HSA-MIR-4271 | 99.88 | 68.32 | 2244 |
| HSA-MIR-4492 | 99.87 | 68.25 | 3611 |
| HSA-MIR-137-3P | 99.87 | 74.74 | 2401 |
| HSA-MIR-4447 | 99.85 | 67.81 | 2900 |
| HSA-MIR-4728-5P | 99.85 | 69.39 | 4718 |
| HSA-MIR-765 | 99.84 | 68.24 | 2442 |
| HSA-MIR-6785-5P | 99.82 | 68.68 | 4428 |
| HSA-MIR-6817-3P | 99.79 | 68.35 | 2126 |
| HSA-MIR-323A-3P | 99.79 | 70.30 | 1739 |
| HSA-MIR-92A-2-5P | 99.75 | 67.01 | 2164 |
| HSA-MIR-11181-3P | 99.75 | 66.38 | 2205 |
| HSA-MIR-3202 | 99.66 | 67.70 | 2737 |
| HSA-MIR-1287-3P | 99.63 | 66.93 | 492 |
| HSA-MIR-762 | 99.58 | 66.61 | 1994 |
Literature-anchored findings (GeneRIF, showing 17)
- EphA2/ephrin-A3 interactions may play a role in the localization and network of Langerhans cells in the epithelium and in the regulation of their trafficking. (PMID:12907451)
- analysis of molecular surfaces in ephrin-A5 essential for a functional interaction with EphA3 (PMID:15901737)
- Increasing ephrin-A expression enhances T-cell interactions not only with purified integrin ligands but also endothelial cells, while EphA activation down-regulates these interactions. (PMID:17980912)
- MicroRNA-210 modulates endothelial cell response to hypoxia and inhibits the receptor tyrosine kinase ligand Ephrin-A3. (PMID:18417479)
- EphA3 mutants with constitutively-released kinase domains efficiently support shedding, even when their kinase is disabled. Our data suggest that this phosphorylation-activated conformational switch of EphA3 directly controls ADAM-mediated shedding. (PMID:19823572)
- The interaction between ephrin-As, Eph receptors and integrin alpha3 is plausibly important for the crosstalk between Eph and integrin signalling pathways at the membrane protrusions and in the migration of brain cancer cells. (PMID:23686814)
- The present study provides evidence that microglia upregulates endothelial ephrin-A3 and ephrin-A4 to facilitate in vitro angiogenesis of brain endothelial cells, which is mediated by microglia-released TNF-alpha. (PMID:25070915)
- Results show that EFNA3 serves as a tumor suppressor in malignant peripheral nerve sheath tumor cells and it may play a critical role in the FAK signaling and VEGF-associated tumor angiogenesis pathway. (PMID:25955218)
- E2F3 and ephrin A3 are putative targets of miR-210, and their protein expression was up-regulated in the angiosarcoma cells (PMID:28739548)
- MiR-210-3p-EphrinA3-PI3K/AKT axis regulates the progression of oral cancer. (PMID:32180353)
- OSCC Exosomes Regulate miR-210-3p Targeting EFNA3 to Promote Oral Cancer Angiogenesis through the PI3K/AKT Pathway. (PMID:32695810)
- Role of EphrinA3 in HIV-1 Neuropathogenesis. (PMID:34618621)
- Ephrin-A3/EphA2 axis regulates cellular metabolic plasticity to enhance cancer stemness in hypoxic hepatocellular carcinoma. (PMID:35227773)
- LncRNA LINC01270 aggravates the progression of gastric cancer through modulation of miR-326/EFNA3 axis. (PMID:35345980)
- EphrinA3 is a key regulator of malignant behaviors and a potential prognostic factor in lung adenocarcinoma. (PMID:35770949)
- Small extracellular vesicles derived from hypoxic mesenchymal stem cells promote vascularized bone regeneration through the miR-210-3p/EFNA3/PI3K pathway. (PMID:35850484)
- Hsa_circ_0007478 aggravates NLRP3 inflammasome activation and lipid metabolism imbalance in ox-LDL-stimulated macrophage via miR-765/EFNA3 axis. (PMID:36191606)
Cross-species orthologs
8 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | efna3b | ENSDARG00000098295 |
| mus_musculus | Efna3 | ENSMUSG00000028039 |
| rattus_norvegicus | Efna3 | ENSRNOG00000057322 |
| drosophila_melanogaster | Ephrin | FBGN0040324 |
| caenorhabditis_elegans | WBGENE00001163 | |
| caenorhabditis_elegans | WBGENE00001164 | |
| caenorhabditis_elegans | WBGENE00001165 | |
| caenorhabditis_elegans | WBGENE00006869 |
Paralogs (7): EFNB1 (ENSG00000090776), EFNA2 (ENSG00000099617), EFNB3 (ENSG00000108947), EFNB2 (ENSG00000125266), EFNA1 (ENSG00000169242), EFNA5 (ENSG00000184349), EFNA4 (ENSG00000243364)
Protein
Protein identifiers
Ephrin-A3 — P52797 (reviewed: P52797)
Alternative names: EFL-2, EHK1 ligand, EPH-related receptor tyrosine kinase ligand 3
All UniProt accessions (1): P52797
UniProt curated annotations — full annotation on UniProt →
Function. Cell surface GPI-bound ligand for Eph receptors, a family of receptor tyrosine kinases which are crucial for migration, repulsion and adhesion during neuronal, vascular and epithelial development. Binds promiscuously Eph receptors residing on adjacent cells, leading to contact-dependent bidirectional signaling into neighboring cells. The signaling pathway downstream of the receptor is referred to as forward signaling while the signaling pathway downstream of the ephrin ligand is referred to as reverse signaling.
Subunit / interactions. Interacts with EPHA8; activates EPHA8.
Subcellular location. Cell membrane.
Tissue specificity. Expressed in brain, skeletal muscle, spleen, thymus, prostate, testis, ovary, small intestine, and peripheral blood leukocytes.
Similarity. Belongs to the ephrin family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| P52797-1 | 1 | yes |
| P52797-2 | 2 |
RefSeq proteins (1): NP_004943* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001799 | Ephrin_RBD | Domain |
| IPR008972 | Cupredoxin | Homologous_superfamily |
| IPR019765 | Ephrin_CS | Conserved_site |
| IPR031328 | Ephrin | Family |
| IPR034252 | Ephrin-A_Ecto | Domain |
Pfam: PF00812
UniProt features (13 total): glycosylation site 3, disulfide bond 2, signal peptide 1, chain 1, splice variant 1, sequence variant 1, sequence conflict 1, propeptide 1, domain 1, lipid moiety-binding region 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P52797-F1 | 74.84 | 0.42 |
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 (1): 214
Disulfide bonds (2): 63–110, 99–158
Glycosylation sites (3): 38, 67, 100
Function
Pathways and Gene Ontology
Reactome pathways
3 pathways
| ID | Pathway |
|---|---|
| R-HSA-2682334 | EPH-Ephrin signaling |
| R-HSA-3928663 | EPHA-mediated growth cone collapse |
| R-HSA-3928665 | EPH-ephrin mediated repulsion of cells |
MSigDB gene sets: 222 (showing top):
BENPORATH_ES_WITH_H3K27ME3, BERTUCCI_MEDULLARY_VS_DUCTAL_BREAST_CANCER_DN, RORA1_01, PEREZ_TP63_TARGETS, LFA1_Q6, MODULE_64, HOEGERKORP_CD44_TARGETS_TEMPORAL_DN, GOBP_NEUROGENESIS, CTATGCA_MIR153, GOBP_CELL_CELL_SIGNALING, GCM_PRKCG, VART_KSHV_INFECTION_ANGIOGENIC_MARKERS_UP, WEI_MYCN_TARGETS_WITH_E_BOX, GOBP_REGULATION_OF_AMYLOID_PRECURSOR_PROTEIN_CATABOLIC_PROCESS, NFKB_C
GO Biological Process (5): cell-cell signaling (GO:0007267), axon guidance (GO:0007411), negative regulation of angiogenesis (GO:0016525), ephrin receptor signaling pathway (GO:0048013), positive regulation of amyloid precursor protein catabolic process (GO:1902993)
GO Molecular Function (3): transmembrane-ephrin receptor activity (GO:0005005), ephrin receptor binding (GO:0046875), protein binding (GO:0005515)
GO Cellular Component (3): plasma membrane (GO:0005886), side of membrane (GO:0098552), membrane (GO:0016020)
Reactome top-level categories
Rollup of top-2 pathways:
| Category | Pathways |
|---|---|
| EPH-Ephrin signaling | 2 |
| Axon guidance | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| membrane | 2 |
| cellular anatomical structure | 2 |
| cell communication | 1 |
| signaling | 1 |
| axonogenesis | 1 |
| neuron projection guidance | 1 |
| angiogenesis | 1 |
| regulation of angiogenesis | 1 |
| negative regulation of blood vessel morphogenesis | 1 |
| cell surface receptor protein tyrosine kinase signaling pathway | 1 |
| amyloid precursor protein catabolic process | 1 |
| positive regulation of protein metabolic process | 1 |
| regulation of amyloid precursor protein catabolic process | 1 |
| ephrin receptor activity | 1 |
| signaling receptor binding | 1 |
| binding | 1 |
| cell periphery | 1 |
| leaflet of membrane bilayer | 1 |
Protein interactions and networks
STRING
888 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| EFNA3 | EPHA4 | P54764 | 999 |
| EFNA3 | EPHA1 | P21709 | 997 |
| EFNA3 | EPHA2 | P29317 | 993 |
| EFNA3 | EPHA10 | Q5JZY3 | 960 |
| EFNA3 | EPHA5 | P54756 | 954 |
| EFNA3 | EPHA3 | P29320 | 939 |
| EFNA3 | EPHA7 | Q15375 | 909 |
| EFNA3 | EPHA8 | P29322 | 857 |
| EFNA3 | EPHB2 | P29323 | 832 |
| EFNA3 | EPHB6 | O15197 | 798 |
| EFNA3 | NGEF | Q8N5V2 | 749 |
| EFNA3 | EPHB1 | P54762 | 747 |
| EFNA3 | EPHB3 | P54753 | 735 |
| EFNA3 | EPHB4 | P54760 | 708 |
| EFNA3 | FN1 | P02751 | 681 |
IntAct
28 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| EFNA3 | MEOX2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| EFNA3 | psi-mi:“MI:0915”(physical association) | 0.560 | |
| EFNA3 | NOTCH2NLA | psi-mi:“MI:0915”(physical association) | 0.560 |
| MEOX2 | EFNA3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| EFNA3 | psi-mi:“MI:0915”(physical association) | 0.560 | |
| EFNA3 | KRTAP1-1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| EFNA3 | LCE2C | psi-mi:“MI:0915”(physical association) | 0.560 |
| AKT1 | EFNA3 | psi-mi:“MI:2364”(proximity) | 0.470 |
| AKT1 | EFNA3 | psi-mi:“MI:0915”(physical association) | 0.470 |
| EFNA3 | psi-mi:“MI:0407”(direct interaction) | 0.440 | |
| INSR | BLTP3B | psi-mi:“MI:0914”(association) | 0.350 |
| SPOP | EFNA3 | psi-mi:“MI:2364”(proximity) | 0.270 |
| EFNA3 | SPOP | psi-mi:“MI:2364”(proximity) | 0.270 |
| EFNA3 | EGFR | psi-mi:“MI:2364”(proximity) | 0.270 |
| BRAF | EFNA3 | psi-mi:“MI:2364”(proximity) | 0.270 |
| EFNA3 | KRTAP1-1 | psi-mi:“MI:0915”(physical association) | 0.000 |
| EFNA3 | LCE2C | psi-mi:“MI:0915”(physical association) | 0.000 |
| PRSS23 | EFNA3 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (119): MEOX2 (Two-hybrid), KRTAP10-3 (Two-hybrid), NOTCH2NL (Two-hybrid), EFNA3 (Two-hybrid), LCE2C (Two-hybrid), KRTAP1-1 (Two-hybrid), EPHA7 (Affinity Capture-Western), EFNA3 (Reconstituted Complex), KRT1 (Affinity Capture-MS), SUMF2 (Affinity Capture-MS), EPHA2 (Affinity Capture-MS), KRT2 (Affinity Capture-MS), HSPA5 (Affinity Capture-MS), KRT10 (Affinity Capture-MS), KRT6B (Affinity Capture-MS)
ESM2 similar proteins: A5A8Y8, A7MBM2, E9PY61, O08542, O08545, O08717, O43921, O75888, O77805, O77835, P04087, P05111, P07434, P07994, P17490, P34820, P43031, P52794, P52797, P52798, P52801, P55101, P58166, Q16586, Q24JP5, Q28686, Q5Q0T9, Q5RJL6, Q5SZI1, Q641Q3, Q6PGN1, Q6PRD1, Q6ZVN8, Q7TQ32, Q7Z5Y6, Q80WF4, Q8C1Q4, Q8K1S7, Q8N7M5, Q8NCW0
Diamond homologs: O08542, O08543, O08545, O35393, O43921, O73612, O73874, P20827, P52793, P52794, P52795, P52796, P52797, P52798, P52799, P52800, P52801, P52802, P52803, P52804, P79727, P79728, P97553, P97605, P98172, Q06AS9, Q15768, Q3ZC64, O13097, O44516
SIGNOR signaling
6 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| EFNA3 | up-regulates | EPHA2 | binding |
| EFNA3 | up-regulates | EPHA3 | binding |
| EFNA3 | up-regulates | EPHA4 | binding |
| EFNA3 | up-regulates | EPHA5 | binding |
| EFNA3 | up-regulates | EPHA7 | binding |
| EFNA3 | up-regulates | EPHA8 | binding |
Disease & clinical
Clinical variants and AI predictions
ClinVar
32 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 27 |
| Likely benign | 0 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
902 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 1:155079065:CAGCA:C | donor_gain | 1.0000 |
| 1:155079066:AGCA:A | donor_gain | 1.0000 |
| 1:155079067:GCA:G | donor_gain | 1.0000 |
| 1:155079067:GCAG:G | donor_gain | 1.0000 |
| 1:155079068:CA:C | donor_gain | 1.0000 |
| 1:155079070:G:GG | donor_gain | 1.0000 |
| 1:155079070:G:T | donor_loss | 1.0000 |
| 1:155079071:T:G | donor_loss | 1.0000 |
| 1:155085089:A:AG | acceptor_gain | 1.0000 |
| 1:155085090:G:GG | acceptor_gain | 1.0000 |
| 1:155085400:CATCT:C | donor_gain | 1.0000 |
| 1:155085401:ATCT:A | donor_gain | 1.0000 |
| 1:155085402:TCT:T | donor_gain | 1.0000 |
| 1:155085403:CT:C | donor_gain | 1.0000 |
| 1:155085404:TGT:T | donor_loss | 1.0000 |
| 1:155085405:G:C | donor_loss | 1.0000 |
| 1:155085405:G:GG | donor_gain | 1.0000 |
| 1:155085875:A:AG | acceptor_gain | 1.0000 |
| 1:155085876:G:GG | acceptor_gain | 1.0000 |
| 1:155085876:GCC:G | acceptor_gain | 1.0000 |
| 1:155085876:GCCA:G | acceptor_gain | 1.0000 |
| 1:155085876:GCCAC:G | acceptor_gain | 1.0000 |
| 1:155085943:G:GG | donor_gain | 1.0000 |
| 1:155086108:A:AG | acceptor_gain | 1.0000 |
| 1:155086108:ACCC:A | acceptor_gain | 1.0000 |
| 1:155086109:C:G | acceptor_gain | 1.0000 |
| 1:155086111:C:A | acceptor_gain | 1.0000 |
| 1:155086111:C:CA | acceptor_gain | 1.0000 |
| 1:155086114:A:AG | acceptor_gain | 1.0000 |
| 1:155086115:C:G | acceptor_gain | 1.0000 |
AlphaMissense
1540 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 1:155079050:T:A | W37R | 1.000 |
| 1:155079050:T:C | W37R | 1.000 |
| 1:155079052:G:C | W37C | 1.000 |
| 1:155079052:G:T | W37C | 1.000 |
| 1:155085132:A:T | D57V | 1.000 |
| 1:155085138:T:C | L59P | 1.000 |
| 1:155085149:T:A | C63S | 1.000 |
| 1:155085149:T:C | C63R | 1.000 |
| 1:155085150:G:A | C63Y | 1.000 |
| 1:155085150:G:C | C63S | 1.000 |
| 1:155085151:C:G | C63W | 1.000 |
| 1:155085225:T:C | L88P | 1.000 |
| 1:155085257:T:A | C99S | 1.000 |
| 1:155085258:G:A | C99Y | 1.000 |
| 1:155085258:G:C | C99S | 1.000 |
| 1:155085281:C:A | R107S | 1.000 |
| 1:155085281:C:G | R107G | 1.000 |
| 1:155085281:C:T | R107C | 1.000 |
| 1:155085284:T:A | W108R | 1.000 |
| 1:155085284:T:C | W108R | 1.000 |
| 1:155085285:G:C | W108S | 1.000 |
| 1:155085286:G:C | W108C | 1.000 |
| 1:155085286:G:T | W108C | 1.000 |
| 1:155085290:T:A | C110S | 1.000 |
| 1:155085290:T:C | C110R | 1.000 |
| 1:155085291:G:A | C110Y | 1.000 |
| 1:155085291:G:C | C110S | 1.000 |
| 1:155085291:G:T | C110F | 1.000 |
| 1:155085292:C:G | C110W | 1.000 |
| 1:155085326:T:C | F122L | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000327458 (1:155084986 G>A), RS1000577600 (1:155078256 C>T), RS1000717031 (1:155082925 C>T), RS1000907937 (1:155078667 CAAG>C), RS1001560850 (1:155083216 G>C), RS1001621487 (1:155079392 T>C), RS1001632715 (1:155082926 G>GT), RS1001695220 (1:155079146 G>A), RS1001855059 (1:155084027 G>A,T), RS1001917744 (1:155085629 G>A), RS1001958516 (1:155077648 G>A), RS1002287683 (1:155083667 G>A,C,T), RS1002515799 (1:155087110 G>A,T), RS1002609214 (1:155081753 TG>T), RS1002622754 (1:155080948 G>A,C)
Disease associations
OMIM: gene MIM:601381 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
21 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001942_19 | Prostate cancer | 2.000000e-08 |
| GCST004131_70 | Inflammatory bowel disease | 6.000000e-08 |
| GCST004132_44 | Crohn’s disease | 2.000000e-07 |
| GCST006586_45 | Urinary albumin excretion | 7.000000e-09 |
| GCST007294_124 | Body fat distribution (trunk fat ratio) | 8.000000e-35 |
| GCST007294_3 | Body fat distribution (trunk fat ratio) | 6.000000e-21 |
| GCST007294_50 | Body fat distribution (trunk fat ratio) | 1.000000e-15 |
| GCST007295_17 | Body fat distribution (leg fat ratio) | 3.000000e-13 |
| GCST007295_37 | Body fat distribution (leg fat ratio) | 7.000000e-17 |
| GCST007295_72 | Body fat distribution (leg fat ratio) | 1.000000e-28 |
| GCST009462_23 | Optic disc size | 4.000000e-11 |
| GCST009963_2 | Cataracts (operation) | 1.000000e-08 |
| GCST010002_367 | Refractive error | 5.000000e-13 |
| GCST010696_19 | Cortical thickness (min-P) | 2.000000e-10 |
| GCST010697_10 | Cortical surface area (min-P) | 3.000000e-10 |
| GCST010698_59 | Subcortical volume (min-P) | 9.000000e-10 |
| GCST010699_20 | Brain morphology (min-P) | 7.000000e-10 |
| GCST010700_5 | Cortical thickness (MOSTest) | 8.000000e-17 |
| GCST010701_66 | Cortical surface area (MOSTest) | 1.000000e-09 |
| GCST010702_43 | Subcortical volume (MOSTest) | 3.000000e-10 |
| GCST010703_253 | Brain morphology (MOSTest) | 4.000000e-14 |
EFO canonical traits (4, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004285 | albuminuria |
| EFO:0004341 | body fat distribution |
| EFO:0004346 | neuroimaging measurement |
| EFO:0004840 | cortical thickness |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
40 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, increases expression, affects expression | 5 |
| aristolochic acid I | decreases expression | 1 |
| 1-cyclopropyl-4-(4-((5-methyl-3-(3-(4-(trifluoromethoxy)phenyl)-1,2,4-oxadiazol-5-yl)-1H-pyrazol-1-yl)methyl)pyridin-2-yl)piperazine | increases expression, decreases reaction | 1 |
| sotorasib | decreases expression, affects cotreatment | 1 |
| kojic acid | decreases expression | 1 |
| trichostatin A | affects expression | 1 |
| mono-(2-ethylhexyl)phthalate | increases abundance, increases methylation | 1 |
| nickel sulfate | affects cotreatment, increases expression | 1 |
| pentabromodiphenyl ether | decreases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| macrophage stimulatory lipopeptide 2 | affects cotreatment, increases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression | 1 |
| 2,2’,4,4’-tetrabromodiphenyl ether | decreases expression | 1 |
| dorsomorphin | affects cotreatment, increases expression | 1 |
| jinfukang | affects cotreatment, increases expression | 1 |
| trametinib | decreases expression, affects cotreatment | 1 |
| NVP-BKM120 | affects cotreatment, decreases expression | 1 |
| Sunitinib | increases expression | 1 |
| Leflunomide | decreases expression | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
| Arbutin | decreases expression | 1 |
| Arsenic | affects methylation | 1 |
| Atrazine | increases expression | 1 |
| Azacitidine | increases expression | 1 |
| Benzo(a)pyrene | increases methylation | 1 |
| Chelating Agents | affects binding, increases expression | 1 |
| Cisplatin | affects cotreatment, increases expression | 1 |
| Copper | affects binding, increases expression | 1 |
| Diethylhexyl Phthalate | increases abundance, increases methylation | 1 |
| Lead | decreases expression | 1 |
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): cataract