UNC5D
gene geneOn this page
Also known as KIAA1777Unc5h4
Summary
UNC5D (unc-5 netrin receptor D, HGNC:18634) is a protein-coding gene on chromosome 8p12, encoding Netrin receptor UNC5D (Q6UXZ4). Receptor for the netrin NTN4 that promotes neuronal cell survival.
Predicted to enable netrin receptor activity. Involved in cell-cell adhesion via plasma-membrane adhesion molecules. Predicted to be located in cell surface and plasma membrane.
Source: NCBI Gene 137970 — RefSeq curated summary.
At a glance
- GWAS associations: 14
- Clinical variants (ClinVar): 92 total
- MANE Select transcript:
NM_080872
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:18634 |
| Approved symbol | UNC5D |
| Name | unc-5 netrin receptor D |
| Location | 8p12 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | KIAA1777, Unc5h4 |
| Ensembl gene | ENSG00000156687 |
| Ensembl biotype | protein_coding |
| OMIM | 616466 |
| Entrez | 137970 |
Gene structure
Transcript identifiers
Ensembl transcripts: 7 — 6 protein_coding, 1 retained_intron
ENST00000287272, ENST00000404895, ENST00000416672, ENST00000420357, ENST00000449677, ENST00000453357, ENST00000474634
RefSeq mRNA: 3 — MANE Select: NM_080872
NM_001322818, NM_001410918, NM_080872
CCDS: CCDS6093, CCDS83279, CCDS94280
Canonical transcript exons
ENST00000404895 — 17 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000890769 | 35595554 | 35595657 |
| ENSE00001027806 | 35568098 | 35568241 |
| ENSE00001027816 | 35683547 | 35683727 |
| ENSE00001027820 | 35766902 | 35767066 |
| ENSE00001027821 | 35750582 | 35750809 |
| ENSE00001027824 | 35731012 | 35731096 |
| ENSE00001027827 | 35774299 | 35774477 |
| ENSE00001027829 | 35748527 | 35748695 |
| ENSE00001027830 | 35759320 | 35759469 |
| ENSE00001089445 | 35726152 | 35726529 |
| ENSE00001156706 | 35705929 | 35705961 |
| ENSE00001156724 | 35549292 | 35549510 |
| ENSE00001551072 | 35790359 | 35796540 |
| ENSE00001732550 | 35235475 | 35235887 |
| ENSE00003530178 | 35722210 | 35722395 |
| ENSE00003582659 | 35686545 | 35686709 |
| ENSE00003627915 | 35684582 | 35684749 |
Expression profiles
Bgee: expression breadth ubiquitous, 117 present calls, max score 95.25.
FANTOM5 (CAGE): breadth broad, TPM avg 3.7820 / max 175.5400, expressed in 373 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 88401 | 3.2037 | 353 |
| 88400 | 0.4375 | 189 |
| 88402 | 0.1408 | 82 |
Top tissues by expression
237 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| embryo | UBERON:0000922 | 95.25 | gold quality |
| ganglionic eminence | UBERON:0004023 | 95.25 | gold quality |
| endothelial cell | CL:0000115 | 92.95 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 90.19 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 88.18 | gold quality |
| cortical plate | UBERON:0005343 | 84.92 | gold quality |
| primary visual cortex | UBERON:0002436 | 81.70 | gold quality |
| Brodmann (1909) area 46 | UBERON:0006483 | 81.14 | gold quality |
| entorhinal cortex | UBERON:0002728 | 80.92 | gold quality |
| buccal mucosa cell | CL:0002336 | 80.81 | silver quality |
| occipital lobe | UBERON:0002021 | 80.80 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 80.36 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 80.32 | gold quality |
| parietal lobe | UBERON:0001872 | 77.81 | gold quality |
| duodenum | UBERON:0002114 | 77.56 | gold quality |
| postcentral gyrus | UBERON:0002581 | 77.46 | gold quality |
| prefrontal cortex | UBERON:0000451 | 75.74 | gold quality |
| jejunal mucosa | UBERON:0000399 | 75.20 | gold quality |
| frontal cortex | UBERON:0001870 | 74.71 | gold quality |
| ventricular zone | UBERON:0003053 | 74.62 | gold quality |
| neocortex | UBERON:0001950 | 73.72 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 73.66 | gold quality |
| islet of Langerhans | UBERON:0000006 | 73.28 | gold quality |
| cerebral cortex | UBERON:0000956 | 72.52 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 72.09 | gold quality |
| temporal lobe | UBERON:0001871 | 71.02 | gold quality |
| superior vestibular nucleus | UBERON:0007227 | 70.40 | gold quality |
| ileal mucosa | UBERON:0000331 | 69.59 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 69.40 | gold quality |
| jejunum | UBERON:0002115 | 69.03 | gold quality |
Single-cell (SCXA)
Detected in 4 experiment(s), a significant marker in 4.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-HCAD-25 | yes | 1393.46 |
| E-GEOD-75140 | yes | 594.41 |
| E-HCAD-35 | yes | 71.45 |
| E-ANND-3 | yes | 7.00 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): TP53
miRNA regulators (miRDB)
350 targeting UNC5D, 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-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-4795-3P | 100.00 | 74.62 | 4024 |
| HSA-MIR-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-4262 | 100.00 | 73.26 | 3931 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-4668-3P | 100.00 | 68.74 | 2635 |
| HSA-MIR-4682 | 100.00 | 68.89 | 1258 |
| HSA-MIR-4481 | 100.00 | 66.42 | 1669 |
| HSA-MIR-513A-5P | 100.00 | 69.77 | 2465 |
| HSA-MIR-126-5P | 100.00 | 72.71 | 3180 |
| HSA-MIR-6740-5P | 100.00 | 65.64 | 932 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-30E-5P | 100.00 | 76.32 | 3242 |
| HSA-MIR-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-1277-5P | 100.00 | 73.95 | 5056 |
| 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-9-5P | 100.00 | 72.28 | 2361 |
| HSA-MIR-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-3924 | 100.00 | 72.09 | 2394 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| 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-3662 | 99.99 | 73.82 | 5684 |
Literature-anchored findings (GeneRIF, showing 9)
- UNC5H4 amplifies p53-dependent apoptotic response. (PMID:18402767)
- UNC5D is a functional tumor suppressor that is frequently downregulated in RCCs due to promoter hypermethylation and LOH. (PMID:23589179)
- UNC5D forms a positive feedback loop with p53 and E2F1 to promote NGF dependence-mediated programmed cell death during neuroblastoma regression. (PMID:23778138)
- the dependence receptor UNC5H4 may act as a putative tumor suppressor in neuroblastoma. (PMID:24519068)
- Unc5D is thus a newly identified transcriptional target of proapoptotic p53 and may also act upstream of p53 to induce p53dependent apoptosis by phosphorylation at ser15. (PMID:24691657)
- The authors identified a locus on chromosome 8, containing UNC5D, and demonstrated evidence of its genome-wide significance with mental composite scores. Within this locus, the joint effects of two independent single nucleotide polymorphisms had a p-value of 4.38 x 10(-9) for mental composite scores. (PMID:28754176)
- these results suggested that UNC5D as a novel putative metastatic suppressor gene that is commonly down-regulated by hypermethylation in PCa. (PMID:30632669)
- Hypermethylated promoters of genes UNC5D and KCNA1 as potential novel diagnostic biomarkers in colorectal cancer. (PMID:33078631)
- The expression of UNC5D is abnormal in the early stage of colorectal tumors associated with its proliferation and migration. (PMID:38235871)
Cross-species orthologs
6 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | unc5db | ENSDARG00000061541 |
| danio_rerio | unc5da | ENSDARG00000092722 |
| mus_musculus | Unc5d | ENSMUSG00000063626 |
| rattus_norvegicus | Unc5d | ENSRNOG00000011858 |
| drosophila_melanogaster | unc-5 | FBGN0034013 |
| caenorhabditis_elegans | WBGENE00006745 |
Paralogs (4): UNC5B (ENSG00000107731), UNC5A (ENSG00000113763), UNC5CL (ENSG00000124602), UNC5C (ENSG00000182168)
Protein
Protein identifiers
Netrin receptor UNC5D — Q6UXZ4 (reviewed: Q6UXZ4)
Alternative names: Protein unc-5 homolog 4, Protein unc-5 homolog D
All UniProt accessions (5): Q6UXZ4, C9J1I0, C9J2B6, E9PDS8, H7BXJ2
UniProt curated annotations — full annotation on UniProt →
Function. Receptor for the netrin NTN4 that promotes neuronal cell survival. Plays a role in cell-cell adhesion and cell guidance. Receptor for netrin involved in cell migration. Plays a role in axon guidance by mediating axon repulsion of neuronal growth cones in the developing nervous system upon ligand binding. May play a role in apoptosis in response to DNA damage. It also acts as a dependence receptor required for apoptosis induction when not associated with netrin ligand. Mediates cell-cell adhesion via its interaction with FLRT3 on an adjacent cell.
Subunit / interactions. Interacts (via extracellular domain) with FLRT2 (via extracellular domain); the interaction is direct. Interacts (via extracellular domain) with FLRT3 (via extracellular domain); the interaction is direct. Identified in a complex with FLRT3 and ADGRL3; does not interact with ADGRL3 by itself.
Subcellular location. Cell membrane.
Post-translational modifications. 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.
Induction. Up-regulated by p53/TP53 in response to DNA damage.
Similarity. Belongs to the unc-5 family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q6UXZ4-1 | 1 | yes |
| Q6UXZ4-2 | 2 |
RefSeq proteins (3): NP_001309747, NP_001397847, NP_543148* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000488 | Death_dom | Domain |
| IPR000884 | TSP1_rpt | Repeat |
| IPR000906 | ZU5_dom | Domain |
| IPR003598 | Ig_sub2 | 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 |
| IPR042058 | UNC5D_Death | Domain |
| IPR057755 | UNC5A-D-like_N | Domain |
Pfam: PF00090, PF00531, PF00791, PF07679, PF17217, PF25609
UniProt features (28 total): disulfide bond 9, domain 6, glycosylation site 4, topological domain 2, signal peptide 1, chain 1, region of interest 1, site 1, splice variant 1, sequence variant 1, transmembrane region 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q6UXZ4-F1 | 75.01 | 0.46 |
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): 416–417 (cleavage; by caspase-3)
Disulfide bonds (9): 75–136, 87–134, 180–231, 264–301, 268–305, 279–291, 320–354, 324–359, 332–344
Glycosylation sites (4): 117, 228, 353, 376
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-418886 | Netrin mediated repulsion signals |
MSigDB gene sets: 148 (showing top):
GOCC_CELL_SURFACE, GOBP_NEUROGENESIS, CACCAGC_MIR138, ATGTTAA_MIR302C, GOBP_CELL_CELL_ADHESION, MODULE_171, MODULE_301, GOBP_CENTRAL_NERVOUS_SYSTEM_NEURON_DIFFERENTIATION, GOBP_REGULATION_OF_NEURON_MIGRATION, GOBP_NEURON_MIGRATION, chr8p12, GOBP_CELL_PROJECTION_ORGANIZATION, VECCHI_GASTRIC_CANCER_EARLY_DN, ATGTCAC_MIR489, MODULE_188
GO Biological Process (7): apoptotic process (GO:0006915), axon guidance (GO:0007411), pyramidal neuron differentiation (GO:0021859), obsolete cell-cell adhesion via plasma-membrane adhesion molecules (GO:0098742), regulation of neuron migration (GO:2001222), signal transduction (GO:0007165), netrin-activated signaling pathway (GO:0038007)
GO Molecular Function (2): netrin receptor activity (GO:0005042), protein binding (GO:0005515)
GO Cellular Component (3): plasma membrane (GO:0005886), cell surface (GO:0009986), membrane (GO:0016020)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Netrin-1 signaling | 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 |
| axonogenesis | 1 |
| neuron projection guidance | 1 |
| central nervous system neuron differentiation | 1 |
| neuron migration | 1 |
| regulation of cell migration | 1 |
| cell communication | 1 |
| cellular process | 1 |
| signaling | 1 |
| regulation of cellular process | 1 |
| cellular response to stimulus | 1 |
| cell surface receptor signaling pathway | 1 |
| transmembrane signaling receptor activity | 1 |
| netrin-activated signaling pathway | 1 |
| binding | 1 |
| membrane | 1 |
| cell periphery | 1 |
Protein interactions and networks
STRING
1300 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| UNC5D | NTN1 | O95631 | 860 |
| UNC5D | FLRT2 | O43155 | 827 |
| UNC5D | FLRT3 | Q9NZU0 | 781 |
| UNC5D | DCC | P43146 | 675 |
| UNC5D | NEO1 | Q92859 | 673 |
| UNC5D | ADGRL3 | Q9HAR2 | 597 |
| UNC5D | NTN4 | Q9HB63 | 545 |
| UNC5D | NTN3 | O00634 | 540 |
| UNC5D | NTNG2 | Q96CW9 | 513 |
| UNC5D | NTNG1 | Q9Y2I2 | 504 |
| UNC5D | SEMA3A | Q14563 | 499 |
| UNC5D | DSCAM | O60469 | 498 |
| UNC5D | BCL11B | Q9C0K0 | 489 |
| UNC5D | FLRT1 | Q9NZU1 | 471 |
| UNC5D | CUX2 | O14529 | 471 |
IntAct
5 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| MPIG6B | UNC5D | psi-mi:“MI:0915”(physical association) | 0.400 |
| SIGLEC15 | UNC5D | psi-mi:“MI:0915”(physical association) | 0.400 |
| TYRO3 | UNC5D | psi-mi:“MI:0915”(physical association) | 0.400 |
| M | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (7): UNC5D (Affinity Capture-MS), UNC5D (Affinity Capture-MS), FLRT2 (Reconstituted Complex), UNC5D (Reconstituted Complex), UNC5D (Affinity Capture-MS), UNC5D (Protein-peptide), UNC5D (Affinity Capture-RNA)
ESM2 similar proteins: A0A0G2JEB6, A0JM56, B0DOB4, B0FXQ5, B1ANS9, B4F7L9, B4GQJ7, B5DHW4, B7FF06, B7FF07, B7FF08, B7FF09, B7FF12, C5IAW9, F1LW30, F1P4W9, O08747, O95185, P0DM40, Q008S8, Q18264, Q32NR9, Q3V0B4, Q402B2, Q4G0P3, Q5R4M2, Q5T0N1, Q5XI14, Q6AXU1, Q6DCF6, Q6NRS1, Q6P2C0, Q6P5D8, Q6UXZ4, Q6ZTR5, Q6ZU64, Q761X5, Q7T2Z5, Q80W93, Q86YR7
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
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| UNC5D | “down-regulates activity” | DCC | binding |
Disease & clinical
Clinical variants and AI predictions
ClinVar
92 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 84 |
| Likely benign | 2 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
6278 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 8:35294717:A:AG | acceptor_gain | 1.0000 |
| 8:35549286:TCACA:T | acceptor_loss | 1.0000 |
| 8:35549287:CACAG:C | acceptor_loss | 1.0000 |
| 8:35549289:CAGG:C | acceptor_loss | 1.0000 |
| 8:35549290:A:AT | acceptor_loss | 1.0000 |
| 8:35549291:G:T | acceptor_loss | 1.0000 |
| 8:35549506:CTCAG:C | donor_loss | 1.0000 |
| 8:35549507:TCAGG:T | donor_loss | 1.0000 |
| 8:35549508:CAG:C | donor_loss | 1.0000 |
| 8:35549509:AG:A | donor_loss | 1.0000 |
| 8:35549510:GGTAG:G | donor_loss | 1.0000 |
| 8:35549511:GT:G | donor_loss | 1.0000 |
| 8:35549512:T:A | donor_loss | 1.0000 |
| 8:35568093:A:AG | acceptor_gain | 1.0000 |
| 8:35568093:ATCAG:A | acceptor_gain | 1.0000 |
| 8:35568094:TCA:T | acceptor_loss | 1.0000 |
| 8:35568095:CA:C | acceptor_loss | 1.0000 |
| 8:35568096:A:AG | acceptor_gain | 1.0000 |
| 8:35568096:AGGTT:A | acceptor_loss | 1.0000 |
| 8:35568097:G:GT | acceptor_gain | 1.0000 |
| 8:35568097:GGT:G | acceptor_gain | 1.0000 |
| 8:35568097:GGTTT:G | acceptor_gain | 1.0000 |
| 8:35568219:G:GT | donor_gain | 1.0000 |
| 8:35568237:AGCCT:A | donor_gain | 1.0000 |
| 8:35568238:GCCT:G | donor_gain | 1.0000 |
| 8:35568238:GCCTG:G | donor_gain | 1.0000 |
| 8:35568239:CCT:C | donor_gain | 1.0000 |
| 8:35568240:CT:C | donor_gain | 1.0000 |
| 8:35568240:CTGTA:C | donor_loss | 1.0000 |
| 8:35568241:TGT:T | donor_loss | 1.0000 |
AlphaMissense
6287 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 8:35549348:C:T | P54S | 1.000 |
| 8:35549349:C:A | P54H | 1.000 |
| 8:35549354:T:C | F56L | 1.000 |
| 8:35549355:T:C | F56S | 1.000 |
| 8:35549355:T:G | F56C | 1.000 |
| 8:35549356:C:A | F56L | 1.000 |
| 8:35549356:C:G | F56L | 1.000 |
| 8:35549366:C:T | P60S | 1.000 |
| 8:35549367:C:A | P60Q | 1.000 |
| 8:35549367:C:G | P60R | 1.000 |
| 8:35549382:T:A | I65N | 1.000 |
| 8:35549387:A:G | K67E | 1.000 |
| 8:35549389:G:C | K67N | 1.000 |
| 8:35549389:G:T | K67N | 1.000 |
| 8:35549406:T:C | L73P | 1.000 |
| 8:35549411:T:A | C75S | 1.000 |
| 8:35549411:T:C | C75R | 1.000 |
| 8:35549412:G:A | C75Y | 1.000 |
| 8:35549412:G:C | C75S | 1.000 |
| 8:35549412:G:T | C75F | 1.000 |
| 8:35549413:C:G | C75W | 1.000 |
| 8:35549436:T:A | I83K | 1.000 |
| 8:35549436:T:C | I83T | 1.000 |
| 8:35549436:T:G | I83R | 1.000 |
| 8:35549441:T:C | F85L | 1.000 |
| 8:35549442:T:C | F85S | 1.000 |
| 8:35549442:T:G | F85C | 1.000 |
| 8:35549443:C:A | F85L | 1.000 |
| 8:35549443:C:G | F85L | 1.000 |
| 8:35549444:A:G | K86E | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000000845 (8:35581718 C>T), RS1000001133 (8:35278024 A>T), RS1000012738 (8:35599478 T>C,G), RS1000020013 (8:35764622 C>T), RS1000023547 (8:35404300 G>A), RS1000026505 (8:35623807 G>A), RS1000036294 (8:35760666 G>A), RS1000048191 (8:35242278 G>A), RS1000059999 (8:35325586 G>T), RS1000062933 (8:35484687 T>C), RS1000067329 (8:35634784 G>C,T), RS1000069024 (8:35365664 G>A,T), RS1000075821 (8:35666666 G>A), RS1000081440 (8:35538632 A>G), RS1000083598 (8:35641439 G>A)
Disease associations
OMIM: gene MIM:616466 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
14 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST002783_231 | Body mass index | 3.000000e-07 |
| GCST002783_411 | Body mass index | 5.000000e-06 |
| GCST002932_3 | Manganese levels | 5.000000e-06 |
| GCST003838_15 | Morning vs. evening chronotype | 2.000000e-08 |
| GCST004769_1 | Mental development (prenatal lead exposure interaction) | 4.000000e-06 |
| GCST006168_5 | Pulse pressure x alcohol consumption interaction (2df test) | 3.000000e-09 |
| GCST006585_2577 | Blood protein levels | 1.000000e-08 |
| GCST006585_2682 | Blood protein levels | 2.000000e-06 |
| GCST007576_216 | Chronotype | 3.000000e-08 |
| GCST008163_431 | Height | 3.000000e-06 |
| GCST008398_11 | Glycated hemoglobin levels | 1.000000e-06 |
| GCST009897_5 | Reading disability | 2.000000e-06 |
| GCST010242_244 | HDL cholesterol levels | 1.000000e-08 |
| GCST012216_6 | Vegetable consumption | 3.000000e-08 |
EFO canonical traits (8, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004340 | body mass index |
| EFO:0008230 | mental development measurement |
| EFO:0004329 | alcohol drinking |
| EFO:0005763 | pulse pressure measurement |
| EFO:0008328 | chronotype measurement |
| EFO:0004541 | HbA1c measurement |
| EFO:0004612 | high density lipoprotein cholesterol measurement |
| EFO:0008111 | diet measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
32 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, decreases expression, increases expression | 5 |
| trichostatin A | affects cotreatment, decreases expression | 3 |
| Resveratrol | affects cotreatment, decreases expression | 2 |
| methylmercuric chloride | decreases expression | 1 |
| alpha-pinene | affects cotreatment, increases oxidation, increases abundance | 1 |
| propionaldehyde | increases expression | 1 |
| methacrylaldehyde | affects cotreatment, increases oxidation, increases abundance | 1 |
| S-(1,2-dichlorovinyl)cysteine | affects response to substance, increases expression, affects cotreatment | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression | 1 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| bisphenol S | increases methylation | 1 |
| Sunitinib | increases expression | 1 |
| Arsenic Trioxide | decreases expression | 1 |
| Acrolein | affects cotreatment, increases oxidation, increases abundance | 1 |
| Air Pollutants | affects cotreatment, increases abundance, increases oxidation | 1 |
| Vehicle Emissions | increases abundance, increases expression | 1 |
| Benzo(a)pyrene | increases methylation | 1 |
| Copper | affects cotreatment, decreases expression | 1 |
| Diethylhexyl Phthalate | decreases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Estradiol | affects cotreatment, decreases expression | 1 |
| Lipopolysaccharides | affects response to substance, increases expression, affects cotreatment | 1 |
| Ozone | increases oxidation, increases abundance, affects cotreatment | 1 |
| Plant Extracts | decreases expression, affects cotreatment | 1 |
| Silicon Dioxide | increases expression | 1 |
| Smoke | decreases expression | 1 |
| Tretinoin | decreases expression | 1 |
| Triclosan | increases expression | 1 |
| 1-Methyl-4-phenylpyridinium | decreases expression | 1 |
| Aflatoxin B1 | increases methylation | 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): dyslexia