UNC5A
gene geneOn this page
Also known as KIAA1976UNC5H1
Summary
UNC5A (unc-5 netrin receptor A, HGNC:12567) is a protein-coding gene on chromosome 5q35.2, encoding Netrin receptor UNC5A (Q6ZN44). Receptor for netrin required for axon guidance.
UNC5A belongs to a family of netrin-1 (MIM 601614) receptors thought to mediate the chemorepulsive effect of netrin-1 on specific axons. For more information on UNC5 proteins, see UNC5C (MIM 603610).
Source: NCBI Gene 90249 — RefSeq curated summary.
At a glance
- GWAS associations: 4
- Clinical variants (ClinVar): 100 total
- MANE Select transcript:
NM_133369
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:12567 |
| Approved symbol | UNC5A |
| Name | unc-5 netrin receptor A |
| Location | 5q35.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | KIAA1976, UNC5H1 |
| Ensembl gene | ENSG00000113763 |
| Ensembl biotype | protein_coding |
| OMIM | 607869 |
| Entrez | 90249 |
Gene structure
Transcript identifiers
Ensembl transcripts: 5 — 4 protein_coding, 1 nonsense_mediated_decay
ENST00000329542, ENST00000509580, ENST00000513890, ENST00000927830, ENST00000970734
RefSeq mRNA: 1 — MANE Select: NM_133369
NM_133369
CCDS: CCDS34299
Canonical transcript exons
ENST00000329542 — 15 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001158964 | 176879310 | 176879488 |
| ENSE00001158973 | 176878475 | 176878639 |
| ENSE00001158980 | 176878244 | 176878393 |
| ENSE00001158987 | 176877894 | 176878127 |
| ENSE00001158992 | 176877535 | 176877703 |
| ENSE00001159001 | 176877192 | 176877279 |
| ENSE00001159009 | 176874264 | 176874566 |
| ENSE00001400922 | 176810559 | 176810820 |
| ENSE00001430991 | 176862624 | 176862845 |
| ENSE00003545204 | 176868561 | 176868664 |
| ENSE00003601466 | 176870370 | 176870534 |
| ENSE00003617779 | 176868784 | 176868964 |
| ENSE00003636035 | 176873968 | 176874156 |
| ENSE00003666765 | 176868130 | 176868273 |
| ENSE00003827647 | 176879721 | 176880898 |
Expression profiles
Bgee: expression breadth ubiquitous, 145 present calls, max score 97.69.
FANTOM5 (CAGE): breadth broad, TPM avg 2.4667 / max 228.6698, expressed in 395 samples.
FANTOM5 promoters (6 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 60437 | 1.0737 | 276 |
| 60438 | 0.8284 | 205 |
| 60436 | 0.2255 | 107 |
| 60435 | 0.2000 | 94 |
| 60434 | 0.1064 | 47 |
| 60439 | 0.0327 | 23 |
Top tissues by expression
246 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| endothelial cell | CL:0000115 | 97.69 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 95.99 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 95.35 | gold quality |
| primary visual cortex | UBERON:0002436 | 95.07 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 94.15 | gold quality |
| right frontal lobe | UBERON:0002810 | 93.99 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 93.28 | gold quality |
| cerebellar cortex | UBERON:0002129 | 93.15 | gold quality |
| occipital lobe | UBERON:0002021 | 92.80 | gold quality |
| cerebellum | UBERON:0002037 | 92.36 | gold quality |
| frontal cortex | UBERON:0001870 | 92.30 | gold quality |
| prefrontal cortex | UBERON:0000451 | 92.27 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 91.70 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 91.56 | gold quality |
| neocortex | UBERON:0001950 | 91.31 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 91.29 | gold quality |
| cerebral cortex | UBERON:0000956 | 90.11 | gold quality |
| postcentral gyrus | UBERON:0002581 | 90.01 | gold quality |
| parietal lobe | UBERON:0001872 | 89.90 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 89.55 | gold quality |
| ganglionic eminence | UBERON:0004023 | 89.33 | gold quality |
| entorhinal cortex | UBERON:0002728 | 88.61 | gold quality |
| Ammon’s horn | UBERON:0001954 | 86.90 | gold quality |
| temporal lobe | UBERON:0001871 | 86.23 | gold quality |
| cortical plate | UBERON:0005343 | 85.76 | gold quality |
| forebrain | UBERON:0001890 | 84.61 | gold quality |
| amygdala | UBERON:0001876 | 84.45 | gold quality |
| brain | UBERON:0000955 | 84.40 | gold quality |
| cerebellar vermis | UBERON:0004720 | 83.38 | gold quality |
| Brodmann (1909) area 46 | UBERON:0006483 | 82.36 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 1.62 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): FOXC1, TP53
miRNA regulators (miRDB)
123 targeting UNC5A, 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-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-6867-5P | 100.00 | 82.21 | 3464 |
| HSA-MIR-8485 | 100.00 | 77.57 | 4731 |
| HSA-MIR-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-MIR-4692 | 100.00 | 67.32 | 2066 |
| HSA-MIR-4262 | 100.00 | 73.26 | 3931 |
| HSA-MIR-181A-5P | 99.99 | 72.96 | 2995 |
| HSA-MIR-181B-5P | 99.99 | 72.97 | 2996 |
| HSA-MIR-181C-5P | 99.99 | 72.95 | 2996 |
| HSA-MIR-181D-5P | 99.99 | 73.04 | 2997 |
| HSA-MIR-4514 | 99.99 | 67.10 | 1870 |
| HSA-MIR-499A-5P | 99.98 | 70.79 | 1323 |
| HSA-MIR-103A-3P | 99.98 | 69.14 | 1595 |
| HSA-MIR-107 | 99.98 | 69.14 | 1595 |
| HSA-MIR-493-5P | 99.96 | 72.47 | 2382 |
| HSA-MIR-548AA | 99.96 | 70.64 | 3753 |
| HSA-MIR-548AP-3P | 99.96 | 70.64 | 3753 |
| HSA-MIR-548T-3P | 99.96 | 70.64 | 3753 |
| HSA-MIR-6721-5P | 99.93 | 68.92 | 2981 |
| HSA-MIR-4492 | 99.87 | 68.25 | 3611 |
| HSA-MIR-3941 | 99.86 | 70.54 | 2735 |
| HSA-MIR-4728-5P | 99.85 | 69.39 | 4718 |
| HSA-MIR-765 | 99.84 | 68.24 | 2442 |
| HSA-MIR-6756-5P | 99.82 | 67.97 | 2466 |
| HSA-MIR-448 | 99.79 | 72.37 | 2103 |
| HSA-MIR-320A-3P | 99.77 | 69.73 | 2107 |
| HSA-MIR-320B | 99.77 | 69.73 | 2107 |
| HSA-MIR-320C | 99.77 | 69.73 | 2107 |
| HSA-MIR-320D | 99.77 | 69.73 | 2107 |
Literature-anchored findings (GeneRIF, showing 9)
- may represent tumor suppressor that inhibit tumor extension outside the region of netrin-1 availability by inducing apoptosis (PMID:12655055)
- UNC5 orthologues define a new mechanism for both the positive (induction) and negative (suppression) regulation of apoptosis in cancer cells (review) (PMID:15573119)
- UNC5A is a novel transcriptional target of p53 and plays a role in p53-dependent apoptosis (PMID:20372800)
- FANCC interferes with UNC5A’s functions in apoptosis and suggest that FANCC may participate in developmental processes through association with the dependence receptor UNC5A. (PMID:24676280)
- these data suggest an important role for UNC5A, a candidate tumor suppressor, in predicting response to DNA damage induced by chemotherapeutic drug and regulating cell death in bladder cancer (PMID:24737586)
- The results suggest that netrin-1 promotes glioma cell proliferation by activating NF-kappaB signaling via UNC5A. (PMID:28710382)
- UNC5A is capable of impeding autophagy and promoting HCV restriction through specific impact on virion infectivity, in a cell death-independent and DAPK-related manner. (PMID:28783179)
- Such data indicate that cooperation between the UPR and UNC5A depletion as previously observed by ourselves in HCC patients samples may foster liver cancer development and growth. (PMID:29277614)
- These studies reveal an unexpected role of the axon guidance receptor UNC5A in fine-tuning ERalpha and EGFR signaling and the luminal progenitor status of hormone-sensitive breast cancers. Furthermore, UNC5A knockdown cells provide an ideal model system to investigate metastasis of ERalpha(+) breast cancers (PMID:29720215)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | unc5a | ENSDARG00000099034 |
| mus_musculus | Unc5a | ENSMUSG00000025876 |
| rattus_norvegicus | Unc5a | ENSRNOG00000059840 |
| drosophila_melanogaster | unc-5 | FBGN0034013 |
| caenorhabditis_elegans | WBGENE00006745 |
Paralogs (4): UNC5B (ENSG00000107731), UNC5CL (ENSG00000124602), UNC5D (ENSG00000156687), UNC5C (ENSG00000182168)
Protein
Protein identifiers
Netrin receptor UNC5A — Q6ZN44 (reviewed: Q6ZN44)
Alternative names: Protein unc-5 homolog 1, Protein unc-5 homolog A
All UniProt accessions (3): Q6ZN44, H0Y8R2, H0Y9G2
UniProt curated annotations — full annotation on UniProt →
Function. Receptor for netrin required for axon guidance. Functions in the netrin signaling pathway and promotes neurite outgrowth in response to NTN1. Mediates axon repulsion of neuronal growth cones in the developing nervous system in response to netrin. Axon repulsion in growth cones may be mediated by its association with DCC that may trigger signaling for repulsion. It also acts as a dependence receptor required for apoptosis induction when not associated with netrin ligand.
Subunit / interactions. Homodimer and homooligomer. Interacts with the cytoplasmic part of DCC. Interacts with MAGED1. Interacts with PRKCABP, possibly mediating some interaction with PKC. Interacts (via extracellular domain) with FLRT2 (via extracellular domain). Interacts (via extracellular domain) with FLRT3 (via extracellular domain).
Subcellular location. Cell membrane. Membrane raft. Cell projection. Neuron projection.
Post-translational modifications. Phosphorylated on cytoplasmic tyrosine residues. Phosphorylated by PKC in vitro. Proteolytically cleaved by caspases during apoptosis. The cleavage does not take place when the receptor is associated with netrin ligand. Its cleavage by caspases is required to induce apoptosis. The two extracellular TSRs of UNC5A contain WxxWxxWxxC motifs that can be C-mannosylated on all tryptophans. DPY19L1 preferentially mannosylates the first two tryptophans and DPY19L3 prefers the third. C-mannosylation by DPY19L1 is required for transport of UNC5A from the endoplasmic reticulum to the cell surface.
Domain organisation. The ZU5 domain mediates the interaction with MAGED1, which participates in the induction of apoptosis.
Induction. By p53/TP53.
Miscellaneous. Down-regulated in multiple cancers including colorectal, breast, ovary, uterus, stomach, lung, or kidney cancers.
Similarity. Belongs to the unc-5 family.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q6ZN44-1 | 1 | yes |
| Q6ZN44-2 | 2 | |
| Q6ZN44-3 | 3 |
RefSeq proteins (1): NP_588610* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000488 | Death_dom | Domain |
| IPR000884 | TSP1_rpt | Repeat |
| IPR000906 | ZU5_dom | Domain |
| IPR003599 | Ig_sub | Domain |
| IPR007110 | Ig-like_dom | Domain |
| IPR011029 | DEATH-like_dom_sf | Homologous_superfamily |
| IPR013098 | Ig_I-set | Domain |
| IPR013783 | Ig-like_fold | Homologous_superfamily |
| IPR033772 | UPA | Domain |
| IPR036179 | Ig-like_dom_sf | Homologous_superfamily |
| IPR036383 | TSP1_rpt_sf | Homologous_superfamily |
| IPR037936 | UNC5A-D | Family |
| IPR042155 | Death_UNC5A | Domain |
| IPR057755 | UNC5A-D-like_N | Domain |
Pfam: PF00531, PF00791, PF07679, PF17217, PF25609
UniProt features (52 total): strand 20, glycosylation site 6, disulfide bond 6, domain 5, splice variant 3, topological domain 2, turn 2, helix 2, signal peptide 1, chain 1, region of interest 1, site 1, sequence conflict 1, transmembrane region 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 4V2A | X-RAY DIFFRACTION | 2.4 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q6ZN44-F1 | 78.19 | 0.51 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Catalytic / active sites (1): 340–341 (cleavage; by caspase-3)
Disulfide bonds (6): 65–126, 77–124, 170–221, 254–288, 258–293, 266–278
Glycosylation sites (6): 107, 218, 245, 248, 251, 287
Function
Pathways and Gene Ontology
Reactome pathways
3 pathways
| ID | Pathway |
|---|---|
| R-HSA-373752 | Netrin-1 signaling |
| R-HSA-418886 | Netrin mediated repulsion signals |
| R-HSA-418889 | Caspase activation via Dependence Receptors in the absence of ligand |
MSigDB gene sets: 104 (showing top):
GSE37336_LY6C_POS_VS_NEG_NAIVE_CD4_TCELL_DN, PID_NETRIN_PATHWAY, GOBP_NEUROGENESIS, CACCAGC_MIR138, SUH_COEXPRESSED_WITH_ID1_AND_ID2_UP, GOCC_NEURON_PROJECTION, GOBP_CELL_PROJECTION_ORGANIZATION, REACTOME_APOPTOSIS, ACEVEDO_METHYLATED_IN_LIVER_CANCER_DN, AGCTCCT_MIR28, HILLION_HMGA1B_TARGETS, GOCC_CELL_PROJECTION_MEMBRANE, ATGTACA_MIR493, GOCC_LEADING_EDGE_MEMBRANE, MARSON_BOUND_BY_FOXP3_UNSTIMULATED
GO Biological Process (5): apoptotic process (GO:0006915), neuron projection development (GO:0031175), anterior/posterior axon guidance (GO:0033564), netrin-activated signaling pathway (GO:0038007), signal transduction (GO:0007165)
GO Molecular Function (2): netrin receptor activity (GO:0005042), protein binding (GO:0005515)
GO Cellular Component (7): plasma membrane (GO:0005886), neuron projection membrane (GO:0032589), neuronal cell body membrane (GO:0032809), membrane raft (GO:0045121), membrane (GO:0016020), cell projection (GO:0042995), neuron projection (GO:0043005)
Reactome top-level categories
Rollup of top-3 pathways:
| Category | Pathways |
|---|---|
| Axon guidance | 1 |
| Netrin-1 signaling | 1 |
| Caspase activation via extrinsic apoptotic signalling pathway | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 2 |
| programmed cell death | 1 |
| apoptotic signaling pathway | 1 |
| execution phase of apoptosis | 1 |
| neuron development | 1 |
| plasma membrane bounded cell projection organization | 1 |
| axon guidance | 1 |
| cell surface receptor signaling pathway | 1 |
| cell communication | 1 |
| cellular process | 1 |
| signaling | 1 |
| regulation of cellular process | 1 |
| cellular response to stimulus | 1 |
| transmembrane signaling receptor activity | 1 |
| netrin-activated signaling pathway | 1 |
| binding | 1 |
| membrane | 1 |
| cell periphery | 1 |
| cell projection membrane | 1 |
| leading edge membrane | 1 |
| neuron projection | 1 |
| neuronal cell body | 1 |
| cell body membrane | 1 |
| membrane microdomain | 1 |
| plasma membrane bounded cell projection | 1 |
Protein interactions and networks
STRING
1488 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| UNC5A | NTN1 | O95631 | 998 |
| UNC5A | FLRT1 | Q9NZU1 | 854 |
| UNC5A | NEO1 | Q92859 | 808 |
| UNC5A | NTN4 | Q9HB63 | 702 |
| UNC5A | FLRT3 | Q9NZU0 | 643 |
| UNC5A | ALOX12 | P18054 | 639 |
| UNC5A | SEMA3A | Q14563 | 638 |
| UNC5A | DSCAM | O60469 | 635 |
| UNC5A | DCC | P43146 | 620 |
| UNC5A | NTN3 | O00634 | 619 |
| UNC5A | MAGED1 | Q9Y5V3 | 602 |
| UNC5A | SEMA3F | Q13275 | 596 |
| UNC5A | UIMC1 | Q96RL1 | 596 |
| UNC5A | NTN5 | Q8WTR8 | 561 |
| UNC5A | EFNB2 | P52799 | 560 |
IntAct
6 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| FGFR4 | UNC5A | psi-mi:“MI:0915”(physical association) | 0.400 |
| UNC5A | MPIG6B | psi-mi:“MI:0915”(physical association) | 0.400 |
| LRRN1 | UNC5A | psi-mi:“MI:0915”(physical association) | 0.400 |
| LRRTM2 | UNC5A | psi-mi:“MI:0915”(physical association) | 0.400 |
| M | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (9): UNC5A (Affinity Capture-Western), MAGED1 (Two-hybrid), UNC5A (Two-hybrid), FANCC (Affinity Capture-Western), UNC5A (Affinity Capture-Western), NTN1 (Reconstituted Complex), MAGED1 (Reconstituted Complex), MAGED1 (Affinity Capture-Western), UNC5A (Affinity Capture-RNA)
ESM2 similar proteins: A0A8M9PFP2, A1X150, A2A863, A4IH88, B0S5G3, B2RXS4, F1LW30, F1R520, G5ED46, L7VG99, O08721, O08722, O08747, O60486, O73878, O94985, O95185, P10493, P14543, P16144, P35590, P54761, P55292, Q06806, Q0VCN6, Q14393, Q5FWR8, Q5R9Q9, Q61592, Q63772, Q64632, Q6DDG2, Q6Q0N0, Q6UXZ4, Q6ZN44, Q761X5, Q7T2Z5, Q8IZJ1, Q8K1S2, Q8K1S3
Diamond homologs: A0A0G2K2P5, A0A8P0N4K0, C5IAW9, F1LW30, O08721, O08722, O08747, O62683, O95049, O95185, O97758, P39447, P57105, Q07157, Q0P5E6, Q13424, Q28626, Q32LE7, Q3T0C9, Q5EBL8, Q5ZIK2, Q61234, Q6NXB2, Q6QA76, Q6R653, Q6UXZ4, Q6ZN44, Q761X5, Q7KRY7, Q7T2Z5, Q80VW5, Q86UL8, Q8IV45, Q8IZJ1, Q8JGT4, Q8K1S2, Q8K1S3, Q8K1S4, Q95168, Q9CZG9
SIGNOR signaling
6 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| UNC5A | “down-regulates activity” | DCC | binding |
| UNC5A | up-regulates | Chemorepulsion_of_axon | |
| NTN4 | up-regulates | UNC5A | binding |
| PRKCA | “down-regulates quantity” | UNC5A | phosphorylation |
| UNC5A | “up-regulates activity” | PICK1 | binding |
Disease & clinical
Clinical variants and AI predictions
ClinVar
100 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 88 |
| Likely benign | 2 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
3279 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 5:176862843:GTG:G | donor_gain | 1.0000 |
| 5:176868270:GCCT:G | donor_gain | 1.0000 |
| 5:176868272:CT:C | donor_gain | 1.0000 |
| 5:176868274:G:GG | donor_gain | 1.0000 |
| 5:176868556:TCTA:T | acceptor_loss | 1.0000 |
| 5:176868558:TAGAT:T | acceptor_loss | 1.0000 |
| 5:176868559:A:AG | acceptor_gain | 1.0000 |
| 5:176868559:A:AT | acceptor_loss | 1.0000 |
| 5:176868560:G:GA | acceptor_gain | 1.0000 |
| 5:176868560:G:GT | acceptor_loss | 1.0000 |
| 5:176868560:GATTT:G | acceptor_gain | 1.0000 |
| 5:176868665:GT:G | donor_loss | 1.0000 |
| 5:176868666:T:A | donor_loss | 1.0000 |
| 5:176868782:AGGT:A | acceptor_gain | 1.0000 |
| 5:176868783:GGTG:G | acceptor_gain | 1.0000 |
| 5:176868960:CTACG:C | donor_loss | 1.0000 |
| 5:176868962:ACGG:A | donor_loss | 1.0000 |
| 5:176868966:T:A | donor_loss | 1.0000 |
| 5:176868992:G:GT | donor_gain | 1.0000 |
| 5:176868993:G:T | donor_gain | 1.0000 |
| 5:176869607:C:A | acceptor_gain | 1.0000 |
| 5:176869608:G:A | acceptor_gain | 1.0000 |
| 5:176869612:A:AG | acceptor_gain | 1.0000 |
| 5:176869612:AGT:A | acceptor_gain | 1.0000 |
| 5:176869613:G:GA | acceptor_gain | 1.0000 |
| 5:176869613:GTG:G | acceptor_gain | 1.0000 |
| 5:176870356:T:TA | acceptor_gain | 1.0000 |
| 5:176870364:A:AG | acceptor_gain | 1.0000 |
| 5:176870365:T:G | acceptor_gain | 1.0000 |
| 5:176870368:A:AG | acceptor_gain | 1.0000 |
AlphaMissense
5480 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 5:176862746:T:A | C65S | 1.000 |
| 5:176862746:T:C | C65R | 1.000 |
| 5:176862747:G:A | C65Y | 1.000 |
| 5:176862747:G:C | C65S | 1.000 |
| 5:176862748:C:G | C65W | 1.000 |
| 5:176862777:T:C | F75S | 1.000 |
| 5:176862782:T:A | C77S | 1.000 |
| 5:176862782:T:C | C77R | 1.000 |
| 5:176862783:G:C | C77S | 1.000 |
| 5:176862796:G:C | W81C | 1.000 |
| 5:176862796:G:T | W81C | 1.000 |
| 5:176868207:T:A | C124S | 1.000 |
| 5:176868207:T:C | C124R | 1.000 |
| 5:176868208:G:C | C124S | 1.000 |
| 5:176868209:C:G | C124W | 1.000 |
| 5:176868213:T:A | C126S | 1.000 |
| 5:176868213:T:C | C126R | 1.000 |
| 5:176868214:G:A | C126Y | 1.000 |
| 5:176868214:G:C | C126S | 1.000 |
| 5:176868215:C:G | C126W | 1.000 |
| 5:176868564:T:C | L147S | 1.000 |
| 5:176868576:T:C | F151S | 1.000 |
| 5:176868576:T:G | F151C | 1.000 |
| 5:176868627:T:C | L168P | 1.000 |
| 5:176868632:T:A | C170S | 1.000 |
| 5:176868632:T:C | C170R | 1.000 |
| 5:176868633:G:A | C170Y | 1.000 |
| 5:176868633:G:C | C170S | 1.000 |
| 5:176868634:C:G | C170W | 1.000 |
| 5:176868647:G:C | G175R | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000028597 (5:176852878 G>A), RS1000043108 (5:176822338 T>C), RS1000122169 (5:176816024 C>T), RS1000143 (5:176857900 A>C,G,T), RS1000144 (5:176857712 C>G,T), RS1000145 (5:176857314 T>G), RS1000184745 (5:176875273 C>A,T), RS1000225156 (5:176809882 G>A,C,T), RS1000239024 (5:176846819 G>A), RS1000273992 (5:176839187 A>G,T), RS1000286426 (5:176877031 G>A,C,T), RS1000289483 (5:176820655 G>A,C), RS1000332211 (5:176864188 C>G), RS1000365929 (5:176851801 G>C), RS1000385332 (5:176827142 G>A)
Disease associations
OMIM: gene MIM:607869 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
4 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST005956_15 | Waist-to-hip ratio adjusted for BMI | 1.000000e-07 |
| GCST005957_13 | Waist-to-hip ratio adjusted for BMI (age <50) | 3.000000e-07 |
| GCST005962_42 | Waist-to-hip ratio adjusted for BMI x sex x age interaction (4df test) | 1.000000e-08 |
| GCST012317_10 | Triglyceride levels x SSRI levels (escitalopram or citalopram) interaction in schizophrenia or bipolar disorder | 5.000000e-06 |
EFO canonical traits (4, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007788 | BMI-adjusted waist-hip ratio |
| EFO:0008007 | age at assessment |
| EFO:0008343 | sex interaction measurement |
| EFO:0004530 | triglyceride measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
33 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Benzo(a)pyrene | affects methylation, decreases expression, increases methylation | 3 |
| Valproic Acid | affects expression, increases expression | 3 |
| bisphenol A | increases methylation, increases expression | 2 |
| Panobinostat | affects cotreatment, decreases expression | 2 |
| Phenylmercuric Acetate | affects cotreatment, decreases expression | 2 |
| methylmercuric chloride | increases expression | 1 |
| propionaldehyde | decreases expression | 1 |
| trichostatin A | decreases expression, increases expression | 1 |
| sodium arsenite | decreases expression | 1 |
| benzo(e)pyrene | increases methylation | 1 |
| aflatoxin B2 | increases methylation | 1 |
| beta-methylcholine | affects expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression | 1 |
| Grape Seed Proanthocyanidins | increases expression, affects cotreatment | 1 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| Resveratrol | affects cotreatment, decreases expression | 1 |
| Zoledronic Acid | increases expression | 1 |
| Acetaminophen | decreases expression | 1 |
| Atrazine | increases expression | 1 |
| Catechin | increases expression, affects cotreatment | 1 |
| Estradiol | increases expression | 1 |
| Lead | affects expression | 1 |
| Methapyrilene | increases methylation | 1 |
| Phthalic Acids | decreases methylation | 1 |
| Plant Extracts | affects cotreatment, decreases expression | 1 |
| Smoke | decreases expression | 1 |
| Tretinoin | decreases expression | 1 |
| Aflatoxin B1 | decreases methylation | 1 |
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.