EXOC5
gene geneOn this page
Also known as SEC10SEC10P
Summary
EXOC5 (exocyst complex component 5, HGNC:10696) is a protein-coding gene on chromosome 14q22.3, encoding Exocyst complex component 5 (O00471). Component of the exocyst complex involved in the docking of exocytic vesicles with fusion sites on the plasma membrane. It is a selective cancer dependency (DepMap: 48.8% of cell lines).
The protein encoded by this gene is a component of the exocyst complex, a multiple protein complex essential for targeting exocytic vesicles to specific docking sites on the plasma membrane. Though best characterized in yeast, the component proteins and functions of exocyst complex have been demonstrated to be highly conserved in higher eukaryotes. At least eight components of the exocyst complex, including this protein, are found to interact with the actin cytoskeletal remodeling and vesicle transport machinery. The complex is also essential for the biogenesis of epithelial cell surface polarity.
Source: NCBI Gene 10640 — RefSeq curated summary.
At a glance
- GWAS associations: 4
- Clinical variants (ClinVar): 87 total
- Cancer dependency (DepMap): dependent in 48.8% of screened cell lines
- MANE Select transcript:
NM_006544
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:10696 |
| Approved symbol | EXOC5 |
| Name | exocyst complex component 5 |
| Location | 14q22.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | SEC10, SEC10P |
| Ensembl gene | ENSG00000070367 |
| Ensembl biotype | protein_coding |
| OMIM | 604469 |
| Entrez | 10640 |
Gene structure
Transcript identifiers
Ensembl transcripts: 18 — 11 protein_coding, 4 retained_intron, 2 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay
ENST00000340918, ENST00000554011, ENST00000554598, ENST00000554934, ENST00000555148, ENST00000555749, ENST00000556318, ENST00000556629, ENST00000556911, ENST00000621441, ENST00000854286, ENST00000854287, ENST00000854288, ENST00000854289, ENST00000854290, ENST00000854291, ENST00000970530, ENST00000970531
RefSeq mRNA: 1 — MANE Select: NM_006544
NM_006544
CCDS: CCDS45111
Canonical transcript exons
ENST00000621441 — 18 exons
| Exon | Start | End |
|---|---|---|
| ENSE00002443973 | 57268622 | 57268905 |
| ENSE00003488823 | 57233743 | 57233883 |
| ENSE00003496703 | 57235711 | 57235820 |
| ENSE00003503295 | 57222308 | 57222416 |
| ENSE00003510016 | 57219322 | 57219442 |
| ENSE00003526544 | 57209953 | 57210061 |
| ENSE00003564306 | 57232667 | 57232749 |
| ENSE00003565795 | 57231506 | 57231715 |
| ENSE00003569373 | 57247618 | 57247712 |
| ENSE00003574332 | 57233988 | 57234032 |
| ENSE00003589753 | 57217982 | 57218068 |
| ENSE00003616078 | 57246711 | 57246858 |
| ENSE00003622495 | 57209567 | 57209782 |
| ENSE00003636328 | 57244165 | 57244359 |
| ENSE00003644036 | 57239595 | 57239659 |
| ENSE00003660731 | 57229734 | 57229881 |
| ENSE00003682033 | 57237338 | 57237366 |
| ENSE00003723977 | 57200507 | 57208797 |
Expression profiles
Bgee: expression breadth ubiquitous, 255 present calls, max score 97.57.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 28.4784 / max 432.6813, expressed in 1818 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 143403 | 28.4784 | 1818 |
Top tissues by expression
256 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| cortical plate | UBERON:0005343 | 97.57 | gold quality |
| ganglionic eminence | UBERON:0004023 | 97.47 | gold quality |
| corpus callosum | UBERON:0002336 | 96.99 | gold quality |
| ventricular zone | UBERON:0003053 | 96.52 | gold quality |
| cardiac muscle of right atrium | UBERON:0003379 | 96.51 | gold quality |
| left ventricle myocardium | UBERON:0006566 | 96.11 | gold quality |
| inferior vagus X ganglion | UBERON:0005363 | 95.95 | gold quality |
| calcaneal tendon | UBERON:0003701 | 95.84 | gold quality |
| adrenal tissue | UBERON:0018303 | 95.53 | gold quality |
| colonic epithelium | UBERON:0000397 | 95.43 | gold quality |
| subthalamic nucleus | UBERON:0001906 | 95.32 | gold quality |
| secondary oocyte | CL:0000655 | 95.28 | gold quality |
| medulla oblongata | UBERON:0001896 | 95.25 | gold quality |
| myocardium | UBERON:0002349 | 95.14 | gold quality |
| superior vestibular nucleus | UBERON:0007227 | 95.07 | gold quality |
| postcentral gyrus | UBERON:0002581 | 94.94 | gold quality |
| islet of Langerhans | UBERON:0000006 | 94.63 | gold quality |
| parietal lobe | UBERON:0001872 | 94.63 | gold quality |
| cauda epididymis | UBERON:0004360 | 94.44 | gold quality |
| caput epididymis | UBERON:0004358 | 94.33 | gold quality |
| dorsal root ganglion | UBERON:0000044 | 94.31 | gold quality |
| dorsal plus ventral thalamus | UBERON:0001897 | 94.23 | gold quality |
| tibialis anterior | UBERON:0001385 | 94.19 | gold quality |
| substantia nigra pars reticulata | UBERON:0001966 | 94.08 | gold quality |
| adult organism | UBERON:0007023 | 94.00 | gold quality |
| superficial temporal artery | UBERON:0001614 | 93.86 | gold quality |
| kidney epithelium | UBERON:0004819 | 93.86 | gold quality |
| trabecular bone tissue | UBERON:0002483 | 93.84 | gold quality |
| substantia nigra pars compacta | UBERON:0001965 | 93.71 | gold quality |
| deltoid | UBERON:0001476 | 93.70 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 5.86 |
| E-MTAB-6075 | no | 573.06 |
| E-GEOD-124858 | no | 379.57 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
353 targeting EXOC5, 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-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-4262 | 100.00 | 73.26 | 3931 |
| HSA-MIR-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-5692B | 100.00 | 71.32 | 2622 |
| HSA-MIR-5692C | 100.00 | 71.32 | 2622 |
| HSA-MIR-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-MIR-8485 | 100.00 | 77.57 | 4731 |
| HSA-MIR-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-126-5P | 100.00 | 72.71 | 3180 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-4795-3P | 100.00 | 74.62 | 4024 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-371B-5P | 99.99 | 75.34 | 4759 |
| 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-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-4500 | 99.99 | 72.72 | 2367 |
| HSA-MIR-373-5P | 99.98 | 75.36 | 4753 |
| HSA-MIR-616-5P | 99.98 | 75.58 | 4775 |
| HSA-MIR-548P | 99.98 | 72.25 | 3784 |
| HSA-MIR-548N | 99.98 | 71.94 | 4170 |
| HSA-MIR-4482-3P | 99.98 | 72.50 | 3147 |
| HSA-MIR-19A-3P | 99.98 | 75.33 | 2762 |
| HSA-MIR-19B-3P | 99.98 | 75.44 | 2754 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 48.8% of screened cell lines.
Literature-anchored findings (GeneRIF, showing 7)
- Data show that GTP-bound ARF6 interacts with Sec10, a subunit of the exocyst complex involved in docking of vesicles with the plasma membrane. (PMID:14662749)
- The exocyst protein Sec10 regulates primary ciliogenesis. (PMID:19297529)
- Exocyst Sec10 overexpression reduces damage to tubular epithelial barriers caused by hydrogen peroxide and speeds the recovery of normal epithelial barrier function after such an injury. (PMID:20053792)
- These data confirm that the exocyst is preferentially involved in basolateral protein translation and translocation, and may well act through the phosphorylation of Sec61beta. (PMID:23037926)
- Suggest that the exocyst sec10, acting through EGFR, endocytosis, and the MAPK pathway is a candidate therapeutic target for acute kidney injury. (PMID:25298525)
- show that EXOC5 mRNA almost completely rescues the ciliary phenotypes in exoc5-mutant zebrafish, unlike the EXOC5CTS-m mRNA, which could not efficiently rescue the phenotypes (PMID:30824539)
- The EXOC5 knockdown increases ARF6 levels and decreases EPS8L2 levels, and that EXOC5 overexpression increases EPS8L2. (PMID:31694916)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | exoc5 | ENSDARG00000060323 |
| mus_musculus | Exoc5 | ENSMUSG00000061244 |
| rattus_norvegicus | Exoc5 | ENSRNOG00000013804 |
| drosophila_melanogaster | Sec10 | FBGN0266673 |
| caenorhabditis_elegans | WBGENE00016376 |
Protein
Protein identifiers
Exocyst complex component 5 — O00471 (reviewed: O00471)
Alternative names: Exocyst complex component Sec10
All UniProt accessions (4): O00471, F8W9B8, G3V377, G3V4Z7
UniProt curated annotations — full annotation on UniProt →
Function. Component of the exocyst complex involved in the docking of exocytic vesicles with fusion sites on the plasma membrane.
Subunit / interactions. The exocyst complex is composed of EXOC1, EXOC2, EXOC3, EXOC4, EXOC5, EXOC6, EXOC7 and EXOC8. Interacts with EXOC3L1.
Subcellular location. Cytoplasm. Midbody.
Tissue specificity. Ubiquitous.
Similarity. Belongs to the SEC10 family.
RefSeq proteins (1): NP_006535* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR009976 | Sec10-like | Family |
| IPR048625 | Sec10_N | Domain |
| IPR048627 | Sec10_HB | Domain |
Pfam: PF07393, PF20667
UniProt features (10 total): modified residue 5, initiator methionine 1, chain 1, coiled-coil region 1, sequence variant 1, sequence conflict 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-O00471-F1 | 87.04 | 0.56 |
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 (5): 2, 122, 395, 405, 412
Function
Pathways and Gene Ontology
Reactome pathways
3 pathways
| ID | Pathway |
|---|---|
| R-HSA-1445148 | Translocation of SLC2A4 (GLUT4) to the plasma membrane |
| R-HSA-264876 | Insulin processing |
| R-HSA-5620916 | VxPx cargo-targeting to cilium |
MSigDB gene sets: 261 (showing top):
GOBP_MITOTIC_CYTOKINESIS, GOBP_MORPHOGENESIS_OF_AN_EPITHELIUM, RODRIGUES_THYROID_CARCINOMA_ANAPLASTIC_UP, GOBP_EPITHELIUM_DEVELOPMENT, MYOGENIN_Q6, RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_UP, GOBP_VESICLE_LOCALIZATION, AMIT_EGF_RESPONSE_60_HELA, GCANCTGNY_MYOD_Q6, GCM_ZNF198, IVANOVA_HEMATOPOIESIS_LATE_PROGENITOR, GOBP_VESICLE_TARGETING, GCM_PPM1D, GOBP_VESICLE_MEDIATED_TRANSPORT, REACTOME_MEMBRANE_TRAFFICKING
GO Biological Process (14): mitotic cytokinesis (GO:0000281), establishment of planar polarity (GO:0001736), exocytosis (GO:0006887), post-Golgi vesicle-mediated transport (GO:0006892), Golgi to plasma membrane transport (GO:0006893), obsolete vesicle docking involved in exocytosis (GO:0006904), protein transport (GO:0015031), homeostasis of number of cells within a tissue (GO:0048873), protein localization to plasma membrane (GO:0072659), membrane fission (GO:0090148), obsolete vesicle tethering involved in exocytosis (GO:0090522), epithelial cell apoptotic process (GO:1904019), non-motile cilium assembly (GO:1905515), morphogenesis of a polarized epithelium (GO:0001738)
GO Molecular Function (2): small GTPase binding (GO:0031267), protein binding (GO:0005515)
GO Cellular Component (4): exocyst (GO:0000145), cytoplasm (GO:0005737), cytosol (GO:0005829), midbody (GO:0030496)
Reactome top-level categories
Rollup of top-3 pathways:
| Category | Pathways |
|---|---|
| Membrane Trafficking | 1 |
| Peptide hormone metabolism | 1 |
| Cargo trafficking to the periciliary membrane | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| mitotic cell cycle | 1 |
| cytoskeleton-dependent cytokinesis | 1 |
| mitotic cell cycle process | 1 |
| morphogenesis of a polarized epithelium | 1 |
| establishment of tissue polarity | 1 |
| vesicle-mediated transport | 1 |
| secretion by cell | 1 |
| vesicle fusion to plasma membrane | 1 |
| Golgi vesicle transport | 1 |
| post-Golgi vesicle-mediated transport | 1 |
| vesicle-mediated transport to the plasma membrane | 1 |
| transport | 1 |
| intracellular protein localization | 1 |
| establishment of protein localization | 1 |
| tissue homeostasis | 1 |
| homeostasis of number of cells | 1 |
| protein localization to membrane | 1 |
| protein localization to cell periphery | 1 |
| membrane organization | 1 |
| apoptotic process | 1 |
| cilium assembly | 1 |
| morphogenesis of an epithelium | 1 |
| GTPase binding | 1 |
| binding | 1 |
| cell cortex | 1 |
| vesicle tethering complex | 1 |
| intracellular anatomical structure | 1 |
| cytoplasm | 1 |
Protein interactions and networks
STRING
1854 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| EXOC5 | EXOC4 | Q96A65 | 999 |
| EXOC5 | EXOC6 | Q8TAG9 | 999 |
| EXOC5 | EXOC1 | Q9NV70 | 999 |
| EXOC5 | EXOC3 | O60645 | 999 |
| EXOC5 | EXOC2 | Q96KP1 | 998 |
| EXOC5 | EXOC7 | Q9UPT5 | 998 |
| EXOC5 | EXOC8 | Q8IYI6 | 998 |
| EXOC5 | ARF6 | P26438 | 963 |
| EXOC5 | CTNNB1 | P35222 | 851 |
| EXOC5 | CDC42 | P21181 | 803 |
| EXOC5 | EXOC6B | Q9Y2D4 | 800 |
| EXOC5 | PKD2 | Q13563 | 792 |
| EXOC5 | IFT20 | Q8IY31 | 752 |
| EXOC5 | IFT88 | Q13099 | 710 |
| EXOC5 | VPS53 | Q5VIR6 | 669 |
IntAct
328 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| EXOC6 | EXOC5 | psi-mi:“MI:0914”(association) | 0.840 |
| EXOC5 | EXOC6 | psi-mi:“MI:0915”(physical association) | 0.840 |
| EXOC6B | EXOC5 | psi-mi:“MI:0914”(association) | 0.790 |
| EXOC3 | EXOC5 | psi-mi:“MI:0914”(association) | 0.790 |
| EXOC5 | EXOC6B | psi-mi:“MI:0915”(physical association) | 0.790 |
| EXOC1 | EXOC5 | psi-mi:“MI:0914”(association) | 0.730 |
| EXOC8 | EXOC5 | psi-mi:“MI:0914”(association) | 0.730 |
| DEUP1 | EXOC5 | psi-mi:“MI:0915”(physical association) | 0.720 |
| EXOC5 | RAB4A | psi-mi:“MI:0915”(physical association) | 0.720 |
| RAB4B | EXOC5 | psi-mi:“MI:0915”(physical association) | 0.720 |
| RAB14 | EXOC5 | psi-mi:“MI:0915”(physical association) | 0.720 |
| EXOC5 | PTK6 | psi-mi:“MI:0915”(physical association) | 0.720 |
| MAGEA6 | EXOC5 | psi-mi:“MI:0915”(physical association) | 0.720 |
| EXOC5 | DEUP1 | psi-mi:“MI:0915”(physical association) | 0.720 |
| RAB4A | EXOC5 | psi-mi:“MI:0915”(physical association) | 0.720 |
| EXOC5 | RAB14 | psi-mi:“MI:0915”(physical association) | 0.720 |
| PTK6 | EXOC5 | psi-mi:“MI:0915”(physical association) | 0.720 |
BioGRID (211): EXOC5 (Two-hybrid), EXOC5 (Two-hybrid), EXOC5 (Two-hybrid), EXOC5 (Two-hybrid), EXOC5 (Two-hybrid), EXOC5 (Two-hybrid), EXOC5 (Two-hybrid), TXNL4A (Two-hybrid), C9orf9 (Two-hybrid), EDRF1 (Two-hybrid), PYCARD (Two-hybrid), TNPO2 (Two-hybrid), RAB14 (Two-hybrid), RAB4B (Two-hybrid), KXD1 (Two-hybrid)
ESM2 similar proteins: A3KQV2, A4IIL4, O00471, O54921, P48553, P62944, P63009, P63010, P79020, P97878, Q00004, Q0IIZ5, Q1L8F9, Q29RF7, Q3SYS9, Q3TLI0, Q3TPX4, Q498H0, Q4G074, Q4QR29, Q4V8K5, Q4VA53, Q5F3K0, Q5KU05, Q5R6J0, Q5RDD7, Q5VW32, Q5VYK3, Q62018, Q6DDM4, Q6DEU9, Q6IR80, Q6P1I3, Q6PD62, Q6PDI5, Q6TRW4, Q6ZPU9, Q8BMA6, Q8K2Q7, Q8WUM4
Diamond homologs: O00471, P97878, Q18406, Q3TPX4, Q9XTM1
SIGNOR signaling
2 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| EXOC5 | “form complex” | “Exocyst_EXOC6B variant” | binding |
| EXOC5 | “form complex” | “Exocyst_EXOC6 variant” | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 82 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.
Reactome pathways:
| Pathway | Partners | Fold | FDR |
|---|---|---|---|
| VxPx cargo-targeting to cilium | 8 | 75.5× | 1e-11 |
| Insulin processing | 7 | 58.1× | 2e-09 |
| Translocation of SLC2A4 (GLUT4) to the plasma membrane | 10 | 28.1× | 2e-10 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| obsolete vesicle docking involved in exocytosis | 9 | 83.1× | 2e-13 |
| membrane fission | 9 | 50.7× | 2e-11 |
| Golgi to plasma membrane transport | 6 | 46.2× | 4e-07 |
| mitotic cytokinesis | 8 | 28.4× | 5e-08 |
| exocytosis | 11 | 22.9× | 3e-10 |
| regulation of macroautophagy | 5 | 20.2× | 4e-04 |
| vesicle-mediated transport | 6 | 7.9× | 8e-03 |
| intracellular protein transport | 8 | 7.1× | 1e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
87 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 65 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2710 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 14:57208612:G:C | donor_gain | 1.0000 |
| 14:57209947:ACT:A | donor_loss | 1.0000 |
| 14:57209948:CTC:C | donor_loss | 1.0000 |
| 14:57209950:C:CC | donor_loss | 1.0000 |
| 14:57209951:A:AC | donor_gain | 1.0000 |
| 14:57209951:A:T | donor_loss | 1.0000 |
| 14:57209952:C:CA | donor_gain | 1.0000 |
| 14:57209952:CA:C | donor_gain | 1.0000 |
| 14:57209952:CAT:C | donor_gain | 1.0000 |
| 14:57209952:CATT:C | donor_gain | 1.0000 |
| 14:57209952:CATTA:C | donor_gain | 1.0000 |
| 14:57210058:TGTC:T | acceptor_gain | 1.0000 |
| 14:57210062:CTAGA:C | acceptor_loss | 1.0000 |
| 14:57217974:CAA:C | donor_gain | 1.0000 |
| 14:57218066:GAGC:G | acceptor_loss | 1.0000 |
| 14:57218067:AGCTA:A | acceptor_loss | 1.0000 |
| 14:57218068:GC:G | acceptor_loss | 1.0000 |
| 14:57218069:C:CC | acceptor_gain | 1.0000 |
| 14:57218069:C:CG | acceptor_loss | 1.0000 |
| 14:57218072:T:C | acceptor_gain | 1.0000 |
| 14:57218072:T:TC | acceptor_gain | 1.0000 |
| 14:57218074:G:C | acceptor_gain | 1.0000 |
| 14:57218074:G:GC | acceptor_gain | 1.0000 |
| 14:57218076:A:AC | acceptor_gain | 1.0000 |
| 14:57218076:A:C | acceptor_gain | 1.0000 |
| 14:57218078:A:C | acceptor_gain | 1.0000 |
| 14:57218079:T:TC | acceptor_gain | 1.0000 |
| 14:57218080:T:C | acceptor_gain | 1.0000 |
| 14:57218080:T:TC | acceptor_gain | 1.0000 |
| 14:57219317:CTAA:C | donor_loss | 1.0000 |
AlphaMissense
4746 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 14:57217991:C:T | G535D | 1.000 |
| 14:57235793:A:G | L196P | 1.000 |
| 14:57237363:A:C | F178L | 1.000 |
| 14:57237363:A:T | F178L | 1.000 |
| 14:57237365:A:G | F178L | 1.000 |
| 14:57239616:G:T | A170D | 1.000 |
| 14:57239617:C:G | A170P | 1.000 |
| 14:57239628:A:G | L166S | 1.000 |
| 14:57244242:C:G | A130P | 1.000 |
| 14:57244251:C:G | A127P | 1.000 |
| 14:57244253:C:G | R126P | 1.000 |
| 14:57244258:T:A | R124S | 1.000 |
| 14:57244258:T:G | R124S | 1.000 |
| 14:57244280:A:G | L117S | 1.000 |
| 14:57244283:T:G | Q116P | 1.000 |
| 14:57244289:C:A | G114V | 1.000 |
| 14:57244289:C:T | G114E | 1.000 |
| 14:57244290:C:G | G114R | 1.000 |
| 14:57244290:C:T | G114R | 1.000 |
| 14:57244292:A:G | L113P | 1.000 |
| 14:57244310:G:T | A107E | 1.000 |
| 14:57244311:C:G | A107P | 1.000 |
| 14:57244334:A:G | L99P | 1.000 |
| 14:57208653:G:T | R695S | 0.999 |
| 14:57208748:A:G | L663P | 0.999 |
| 14:57209652:A:G | L618P | 0.999 |
| 14:57209686:C:G | G607R | 0.999 |
| 14:57209686:C:T | G607R | 0.999 |
| 14:57209777:A:C | C576W | 0.999 |
| 14:57217992:C:G | G535R | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000025808 (14:57254849 T>C), RS1000064446 (14:57261853 C>G), RS1000090114 (14:57213354 C>T), RS1000214942 (14:57236172 G>T), RS1000252713 (14:57264409 A>G), RS1000255178 (14:57224115 A>G), RS1000360154 (14:57211683 G>A), RS1000407192 (14:57218974 A>C,G), RS1000465581 (14:57217871 T>C), RS1000491889 (14:57242191 G>A,C), RS1000543838 (14:57246951 G>C), RS1000554217 (14:57230095 A>G), RS1000577587 (14:57265735 A>C), RS1000601105 (14:57224402 G>A), RS1000613824 (14:57253529 T>C)
Disease associations
OMIM: gene MIM:604469 | 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 |
|---|---|---|
| GCST002065_9 | Alcohol consumption | 9.000000e-06 |
| GCST006277_1 | Response to ranibizumab in age-related macular degeneration (exudative) | 7.000000e-07 |
| GCST007576_118 | Chronotype | 4.000000e-11 |
| GCST011743_3 | HDL cholesterol levels in HIV infection | 6.000000e-06 |
EFO canonical traits (4, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004329 | alcohol drinking |
| EFO:0008348 | response to ranibizumab |
| EFO:0008328 | chronotype measurement |
| EFO:0004612 | high density lipoprotein cholesterol measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
45 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, decreases expression, decreases methylation | 4 |
| trichostatin A | affects cotreatment, decreases expression | 3 |
| Endosulfan | increases expression, decreases expression | 2 |
| 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide | decreases expression | 2 |
| Particulate Matter | decreases expression, increases abundance, increases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| FR900359 | increases phosphorylation | 1 |
| bisphenol F | increases expression | 1 |
| dicrotophos | decreases expression | 1 |
| methylmercuric chloride | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| bisphenol A | decreases methylation | 1 |
| cobaltous chloride | affects cotreatment, increases expression | 1 |
| tetrabromobisphenol A | decreases expression | 1 |
| lead chloride | affects cotreatment, increases expression | 1 |
| 4-aminophenylarsenoxide | affects binding, decreases reaction | 1 |
| 1-nitropyrene | increases expression | 1 |
| cadmium sulfate | affects cotreatment, increases expression | 1 |
| CGP 52608 | increases reaction, affects binding | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | decreases expression, affects cotreatment | 1 |
| bisphenol B | increases expression | 1 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| jinfukang | decreases expression | 1 |
| Resveratrol | affects cotreatment, increases expression | 1 |
| Zoledronic Acid | increases expression | 1 |
| Arsenic Trioxide | affects binding, decreases reaction | 1 |
| Acetaminophen | decreases expression | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
| Atrazine | decreases expression | 1 |
| Vehicle Emissions | increases abundance, increases expression | 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.