EXOC3
gene geneOn this page
Also known as Sec6
Summary
EXOC3 (exocyst complex component 3, HGNC:30378) is a protein-coding gene on chromosome 5p15.33, encoding Exocyst complex component 3 (O60645). 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: 74.5% 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 11336 — RefSeq curated summary.
At a glance
- GWAS associations: 7
- Clinical variants (ClinVar): 128 total
- Druggable target: yes
- Cancer dependency (DepMap): dependent in 74.5% of screened cell lines
- MANE Select transcript:
NM_007277
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:30378 |
| Approved symbol | EXOC3 |
| Name | exocyst complex component 3 |
| Location | 5p15.33 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | Sec6 |
| Ensembl gene | ENSG00000180104 |
| Ensembl biotype | protein_coding |
| OMIM | 608186 |
| Entrez | 11336 |
Gene structure
Transcript identifiers
Ensembl transcripts: 17 — 10 protein_coding, 3 retained_intron, 2 nonsense_mediated_decay, 2 protein_coding_CDS_not_defined
ENST00000315013, ENST00000503889, ENST00000505947, ENST00000508022, ENST00000509294, ENST00000510028, ENST00000510441, ENST00000511015, ENST00000512944, ENST00000515601, ENST00000866265, ENST00000866266, ENST00000929778, ENST00000929779, ENST00000929780, ENST00000929781, ENST00000941759
RefSeq mRNA: 1 — MANE Select: NM_007277
NM_007277
CCDS: CCDS54830
Canonical transcript exons
ENST00000512944 — 13 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001273313 | 465111 | 465272 |
| ENSE00001273317 | 464290 | 464412 |
| ENSE00001273327 | 461960 | 462070 |
| ENSE00001273331 | 459359 | 459459 |
| ENSE00001273338 | 457900 | 458025 |
| ENSE00001273345 | 456889 | 457006 |
| ENSE00001273352 | 453370 | 454051 |
| ENSE00001273358 | 447533 | 447752 |
| ENSE00002029435 | 466727 | 467290 |
| ENSE00002036650 | 443176 | 443290 |
| ENSE00003536012 | 462157 | 462307 |
| ENSE00003598581 | 446150 | 446349 |
| ENSE00003665455 | 465718 | 465845 |
Expression profiles
Bgee: expression breadth ubiquitous, 288 present calls, max score 96.78.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 16.8048 / max 130.7590, expressed in 1805 samples.
FANTOM5 promoters (6 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 55481 | 14.8332 | 1797 |
| 55480 | 1.4498 | 945 |
| 55482 | 0.2202 | 44 |
| 55485 | 0.2201 | 82 |
| 55487 | 0.0689 | 12 |
| 55490 | 0.0126 | 5 |
Top tissues by expression
295 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| mucosa of transverse colon | UBERON:0004991 | 96.78 | gold quality |
| adenohypophysis | UBERON:0002196 | 96.66 | gold quality |
| sural nerve | UBERON:0015488 | 96.35 | gold quality |
| mucosa of stomach | UBERON:0001199 | 96.31 | gold quality |
| right uterine tube | UBERON:0001302 | 96.29 | gold quality |
| metanephros cortex | UBERON:0010533 | 96.06 | gold quality |
| skin of leg | UBERON:0001511 | 95.89 | gold quality |
| pituitary gland | UBERON:0000007 | 95.88 | gold quality |
| body of stomach | UBERON:0001161 | 95.80 | gold quality |
| skin of abdomen | UBERON:0001416 | 95.80 | gold quality |
| transverse colon | UBERON:0001157 | 95.52 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 95.34 | gold quality |
| left testis | UBERON:0004533 | 95.26 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 95.02 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 94.94 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 94.78 | gold quality |
| lower esophagus | UBERON:0013473 | 94.77 | gold quality |
| right testis | UBERON:0004534 | 94.74 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 94.73 | gold quality |
| esophagus mucosa | UBERON:0002469 | 94.71 | gold quality |
| gastrocnemius | UBERON:0001388 | 94.68 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 94.66 | gold quality |
| popliteal artery | UBERON:0002250 | 94.64 | gold quality |
| tibial artery | UBERON:0007610 | 94.64 | gold quality |
| esophagus | UBERON:0001043 | 94.57 | gold quality |
| gall bladder | UBERON:0002110 | 94.45 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 94.42 | gold quality |
| minor salivary gland | UBERON:0001830 | 94.41 | gold quality |
| fundus of stomach | UBERON:0001160 | 94.35 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 94.33 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 4.35 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
19 targeting EXOC3, 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-4493 | 99.90 | 66.48 | 977 |
| HSA-MIR-1207-5P | 99.49 | 69.11 | 2983 |
| HSA-MIR-4441 | 99.49 | 66.56 | 3216 |
| HSA-MIR-6871-3P | 99.43 | 68.85 | 741 |
| HSA-MIR-324-3P | 99.26 | 66.31 | 1034 |
| HSA-MIR-4763-3P | 99.10 | 67.83 | 2649 |
| HSA-MIR-4270 | 99.02 | 66.26 | 1987 |
| HSA-MIR-1301-3P | 98.64 | 68.27 | 1071 |
| HSA-MIR-5047 | 98.64 | 68.62 | 1035 |
| HSA-MIR-6792-5P | 98.39 | 68.16 | 1330 |
| HSA-MIR-4664-5P | 98.17 | 65.07 | 1020 |
| HSA-MIR-4772-3P | 98.04 | 65.60 | 1203 |
| HSA-MIR-3921 | 97.81 | 67.45 | 1431 |
| HSA-MIR-4660 | 97.79 | 67.44 | 1328 |
| HSA-MIR-6879-5P | 97.77 | 65.52 | 1521 |
| HSA-MIR-342-5P | 97.25 | 64.10 | 817 |
| HSA-MIR-4653-5P | 97.22 | 67.72 | 1429 |
| HSA-MIR-6800-5P | 94.59 | 64.80 | 525 |
| HSA-MIR-1471 | 77.94 | 66.74 | 5 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 74.5% of screened cell lines.
Literature-anchored findings (GeneRIF, showing 7)
- Data demonstrate that the expression of alpha-E-catenin is increased by Sec6 siRNAs, and E-cadherin and beta-catenin localize mainly at the cell-cell contact region in HSC3 cells, which were transfected with Sec6 siRNA. (PMID:22381337)
- Sec6 regulates cytoplasmic translocation of p27 through p27 phosphorylation at Thr157, thereby promoting p27 degradation in the cytoplasm via interaction with Jab1 and Siah1 and suppressing cell cycle progression. (PMID:24949832)
- Sec6 regulates NF-kappaB transcriptional activity via the control of the phosphorylation of IkappaBalpha, p90RSK1, and ERK (PMID:26247921)
- The study explores the role of the exocyst complex component Sec6/8 in genomic stability. (PMID:26283729)
- Sec6 regulate Bcl-2 and Mcl-1 expressions but not Bcl-xl in malignant peripheral nerve sheath tumor cells. (PMID:26892009)
- Sec6 increased the phosphorylation of p38 MAPK through the activation of MAPK kinase 3/6 (MKK3/6). Moreover, Sec6 knockdown suppressed the phosphorylation of HSP27 at Ser(78) and Ser(82) sites via suppression of activated MK2. (PMID:29729335)
- Structural Study of the Exocyst Subunit Human Sec6. (PMID:38007759)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | exoc3 | ENSDARG00000014582 |
| mus_musculus | Exoc3 | ENSMUSG00000034152 |
| rattus_norvegicus | Ahrr | ENSRNOG00000014721 |
| drosophila_melanogaster | Sec6 | FBGN0266671 |
| caenorhabditis_elegans | WBGENE00017284 |
Paralogs (4): EXOC3L1 (ENSG00000179044), TNFAIP2 (ENSG00000185215), EXOC3L4 (ENSG00000205436), EXOC3L2 (ENSG00000283632)
Protein
Protein identifiers
Exocyst complex component 3 — O60645 (reviewed: O60645)
Alternative names: Exocyst complex component Sec6
All UniProt accessions (4): O60645, D6RB59, D6RBR9, H0Y995
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. Interacts with BIRC6/bruce. Interacts with MYRIP. Interacts with SLC6A9.
Subcellular location. Cytoplasm. Perinuclear region. Cell projection. Growth cone. Midbody. Golgi apparatus. Neuron projection.
Tissue specificity. Expressed in epididymis (at protein level).
Similarity. Belongs to the SEC6 family.
RefSeq proteins (1): NP_009208* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR010326 | EXOC3/Sec6 | Family |
| IPR042532 | EXOC3/Sec6_C | Homologous_superfamily |
Pfam: PF06046
UniProt features (2 total): chain 1, modified residue 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-O60645-F1 | 88.79 | 0.64 |
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): 28
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: 129 (showing top):
GOBP_MITOTIC_CYTOKINESIS, GOBP_VESICLE_LOCALIZATION, GOCC_SECRETORY_GRANULE, GOBP_VESICLE_TARGETING, KEGG_TIGHT_JUNCTION, GOBP_VESICLE_MEDIATED_TRANSPORT, REACTOME_MEMBRANE_TRAFFICKING, GOBP_MEMBRANE_DOCKING, GOBP_EXOCYTOSIS, GOBP_VESICLE_DOCKING_INVOLVED_IN_EXOCYTOSIS, WANG_LMO4_TARGETS_DN, GOBP_CYTOKINESIS, GOBP_SECRETION, NIKOLSKY_BREAST_CANCER_5P15_AMPLICON, GOBP_MITOTIC_CELL_CYCLE
GO Biological Process (7): mitotic cytokinesis (GO:0000281), exocytosis (GO:0006887), obsolete vesicle docking involved in exocytosis (GO:0006904), protein transport (GO:0015031), exocyst localization (GO:0051601), membrane fission (GO:0090148), obsolete vesicle tethering involved in exocytosis (GO:0090522)
GO Molecular Function (3): SNARE binding (GO:0000149), cadherin binding (GO:0045296), protein binding (GO:0005515)
GO Cellular Component (11): exocyst (GO:0000145), Golgi apparatus (GO:0005794), cytosol (GO:0005829), growth cone (GO:0030426), midbody (GO:0030496), secretory granule membrane (GO:0030667), perinuclear region of cytoplasm (GO:0048471), cytoplasm (GO:0005737), membrane (GO:0016020), cell projection (GO:0042995), neuron projection (GO:0043005)
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 | 6 |
| cytoplasm | 3 |
| mitotic cell cycle | 1 |
| cytoskeleton-dependent cytokinesis | 1 |
| mitotic cell cycle process | 1 |
| vesicle-mediated transport | 1 |
| secretion by cell | 1 |
| vesicle fusion to plasma membrane | 1 |
| transport | 1 |
| intracellular protein localization | 1 |
| establishment of protein localization | 1 |
| protein-containing complex localization | 1 |
| membrane organization | 1 |
| protein binding | 1 |
| cell adhesion molecule binding | 1 |
| binding | 1 |
| cell cortex | 1 |
| vesicle tethering complex | 1 |
| endomembrane system | 1 |
| intracellular membrane-bounded organelle | 1 |
| site of polarized growth | 1 |
| distal axon | 1 |
| secretory granule | 1 |
| cytoplasmic vesicle membrane | 1 |
| bounding membrane of organelle | 1 |
| intracellular anatomical structure | 1 |
| plasma membrane bounded cell projection | 1 |
Protein interactions and networks
STRING
1336 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| EXOC3 | EXOC2 | Q96KP1 | 999 |
| EXOC3 | EXOC4 | Q96A65 | 999 |
| EXOC3 | EXOC7 | Q9UPT5 | 999 |
| EXOC3 | EXOC8 | Q8IYI6 | 999 |
| EXOC3 | EXOC1 | Q9NV70 | 999 |
| EXOC3 | EXOC5 | O00471 | 999 |
| EXOC3 | EXOC6 | Q8TAG9 | 998 |
| EXOC3 | SNAP25 | P13795 | 978 |
| EXOC3 | RHOQ | P17081 | 902 |
| EXOC3 | MYRIP | Q8NFW9 | 900 |
| EXOC3 | RAB11A | P24410 | 868 |
| EXOC3 | EXOC6B | Q9Y2D4 | 769 |
| EXOC3 | VPS53 | Q5VIR6 | 749 |
| EXOC3 | RALA | P11233 | 744 |
| EXOC3 | COG4 | Q9H9E3 | 717 |
IntAct
122 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| EXOC6 | EXOC5 | psi-mi:“MI:0914”(association) | 0.840 |
| EXOC2 | EXOC3 | psi-mi:“MI:0914”(association) | 0.790 |
| EXOC3 | EXOC5 | psi-mi:“MI:0914”(association) | 0.790 |
| EXOC1 | EXOC5 | psi-mi:“MI:0914”(association) | 0.730 |
| EXOC8 | EXOC5 | psi-mi:“MI:0914”(association) | 0.730 |
| CFTR | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.710 |
| SDC2 | PDPK1 | psi-mi:“MI:0914”(association) | 0.640 |
| GYPA | TCAF2 | psi-mi:“MI:0914”(association) | 0.640 |
| EXOC3 | PPP1R12C | psi-mi:“MI:0915”(physical association) | 0.560 |
| EXOC3 | GMCL1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| FSD2 | EXOC3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CXCR4 | TMEM120B | psi-mi:“MI:0914”(association) | 0.530 |
| IL1R2 | EXOC5 | psi-mi:“MI:0914”(association) | 0.530 |
| ILVBL | SLC33A1 | psi-mi:“MI:0914”(association) | 0.530 |
| LPAR1 | TMEM223 | psi-mi:“MI:0914”(association) | 0.530 |
| EXOC3 | TMED1 | psi-mi:“MI:0914”(association) | 0.510 |
| EXOC4 | EXOC5 | psi-mi:“MI:0914”(association) | 0.510 |
| EXOC5 | ZNF609 | psi-mi:“MI:0914”(association) | 0.510 |
| LAPTM4B | EXOC3 | psi-mi:“MI:0915”(physical association) | 0.400 |
| EGFR | EXOC3 | psi-mi:“MI:0915”(physical association) | 0.400 |
| EXOC3 | HNRNPA1L2 | psi-mi:“MI:0915”(physical association) | 0.400 |
BioGRID (242): EXOC3 (Affinity Capture-MS), EXOC3 (Reconstituted Complex), EXOC3 (Affinity Capture-MS), EXOC3 (Affinity Capture-MS), EXOC3 (Co-fractionation), EXOC3 (Co-fractionation), EXOC3 (Co-fractionation), EXOC4 (Co-fractionation), EXOC6 (Co-fractionation), EXOC7 (Co-fractionation), EXOC8 (Co-fractionation), METAP1 (Co-fractionation), TRMT2A (Co-fractionation), EXOC3 (Affinity Capture-MS), EXOC3 (Proximity Label-MS)
ESM2 similar proteins: A2AV37, A2BID5, A2VDR8, A7E2Y6, A7Z033, B4DZS4, O15068, O35821, O60645, O70576, O94812, P52630, P83436, Q01755, Q03169, Q08CY4, Q0P4Q0, Q0V8C2, Q14746, Q15021, Q17RC7, Q19262, Q1LXZ7, Q2TBH9, Q3T1G7, Q3TBD2, Q3UM29, Q5H9J9, Q5XI00, Q61333, Q62825, Q63406, Q64096, Q6DIA2, Q6GPP1, Q6KAR6, Q7T006, Q80TT2, Q80VA5, Q8K1H7
Diamond homologs: A2AV37, O60645, Q0V8C2, Q0VCR8, Q62825, Q6KAR6, Q86VI1, Q8BI71, Q19262, Q9V8K2, Q2M3D2
SIGNOR signaling
2 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| EXOC3 | “form complex” | “Exocyst_EXOC6B variant” | binding |
| EXOC3 | “form complex” | “Exocyst_EXOC6 variant” | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 125 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 | 7 | 45.4× | 5e-08 |
| Insulin processing | 7 | 40.0× | 7e-08 |
| Translocation of SLC2A4 (GLUT4) to the plasma membrane | 9 | 17.4× | 3e-07 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| obsolete vesicle docking involved in exocytosis | 8 | 49.5× | 1e-09 |
| Golgi to plasma membrane transport | 7 | 36.1× | 1e-07 |
| membrane fission | 8 | 30.2× | 4e-08 |
| mitotic cytokinesis | 10 | 23.8× | 3e-09 |
| exocytosis | 8 | 11.1× | 7e-05 |
| cell surface receptor signaling pathway | 11 | 6.5× | 1e-04 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
128 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 106 |
| Likely benign | 3 |
| Benign | 3 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2711 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 5:443287:GAGG:G | donor_gain | 1.0000 |
| 5:443289:GG:G | donor_gain | 1.0000 |
| 5:443290:GG:G | donor_gain | 1.0000 |
| 5:446348:AGGTG:A | donor_loss | 1.0000 |
| 5:446350:GT:G | donor_loss | 1.0000 |
| 5:447527:CTTTA:C | acceptor_loss | 1.0000 |
| 5:447529:TTA:T | acceptor_loss | 1.0000 |
| 5:447530:TAGG:T | acceptor_loss | 1.0000 |
| 5:447531:A:AG | acceptor_gain | 1.0000 |
| 5:447531:A:T | acceptor_loss | 1.0000 |
| 5:447532:G:GA | acceptor_loss | 1.0000 |
| 5:447532:G:GG | acceptor_gain | 1.0000 |
| 5:447532:GGCC:G | acceptor_gain | 1.0000 |
| 5:447748:CTCAG:C | donor_loss | 1.0000 |
| 5:447749:TCAG:T | donor_loss | 1.0000 |
| 5:447750:CAGG:C | donor_loss | 1.0000 |
| 5:447751:AGG:A | donor_loss | 1.0000 |
| 5:447752:GGTAC:G | donor_loss | 1.0000 |
| 5:447753:GTACC:G | donor_loss | 1.0000 |
| 5:447754:T:A | donor_loss | 1.0000 |
| 5:453368:A:AG | acceptor_gain | 1.0000 |
| 5:453369:G:GG | acceptor_gain | 1.0000 |
| 5:453369:GT:G | acceptor_gain | 1.0000 |
| 5:456887:A:AG | acceptor_gain | 1.0000 |
| 5:456888:G:GG | acceptor_gain | 1.0000 |
| 5:457007:G:GG | donor_gain | 1.0000 |
| 5:457879:AT:A | acceptor_gain | 1.0000 |
| 5:457880:T:TA | acceptor_gain | 1.0000 |
| 5:461956:TCAG:T | acceptor_loss | 1.0000 |
| 5:461958:A:AG | acceptor_gain | 1.0000 |
AlphaMissense
4939 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 5:457915:T:A | W394R | 1.000 |
| 5:457915:T:C | W394R | 1.000 |
| 5:446338:G:C | A45P | 0.999 |
| 5:446345:T:C | L47S | 0.999 |
| 5:447536:G:C | A50P | 0.999 |
| 5:454029:T:A | W342R | 0.999 |
| 5:454029:T:C | W342R | 0.999 |
| 5:457917:G:C | W394C | 0.999 |
| 5:457917:G:T | W394C | 0.999 |
| 5:457919:T:C | L395P | 0.999 |
| 5:457927:G:C | A398P | 0.999 |
| 5:457951:T:A | W406R | 0.999 |
| 5:457951:T:C | W406R | 0.999 |
| 5:457969:C:T | P412S | 0.999 |
| 5:457970:C:A | P412Q | 0.999 |
| 5:457970:C:G | P412R | 0.999 |
| 5:458009:C:G | P425R | 0.999 |
| 5:458018:T:A | V428D | 0.999 |
| 5:459360:T:C | M431T | 0.999 |
| 5:459375:T:C | L436P | 0.999 |
| 5:462043:C:A | A492D | 0.999 |
| 5:462053:C:A | N495K | 0.999 |
| 5:462053:C:G | N495K | 0.999 |
| 5:462056:C:A | N496K | 0.999 |
| 5:462056:C:G | N496K | 0.999 |
| 5:464320:T:A | W562R | 0.999 |
| 5:464320:T:C | W562R | 0.999 |
| 5:465806:T:C | L676P | 0.999 |
| 5:465821:T:C | L681P | 0.999 |
| 5:466758:C:A | R700S | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000112045 (5:449230 C>G,T), RS1000319134 (5:464884 G>C), RS1000415538 (5:465161 G>A,C), RS1000457984 (5:445059 G>A), RS1000480847 (5:453220 G>C), RS1000568612 (5:445288 C>T), RS1001048996 (5:456194 T>C), RS1001107799 (5:447667 T>C), RS1001169645 (5:462755 A>G), RS1001258270 (5:460778 G>A), RS1001319335 (5:466172 T>C), RS1001413572 (5:466364 C>A,T), RS1001435610 (5:460573 C>T), RS1001470678 (5:457589 A>G), RS1001569116 (5:446614 C>T)
Disease associations
OMIM: gene MIM:608186 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
7 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000964_8 | Ulcerative colitis | 3.000000e-08 |
| GCST002563_7 | Hypospadias | 9.000000e-09 |
| GCST004615_21 | Hemoglobin concentration | 5.000000e-09 |
| GCST010083_45 | Hemoglobin levels | 3.000000e-11 |
| GCST90002383_200 | Hematocrit | 3.000000e-19 |
| GCST90002384_149 | Hemoglobin | 1.000000e-17 |
| GCST90002403_438 | Red blood cell count | 1.000000e-18 |
EFO canonical traits (3, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004509 | hemoglobin measurement |
| EFO:0004348 | hematocrit |
| EFO:0004305 | erythrocyte count |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL6067025 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
ChEMBL bioactivities
2 potent at pChembl≥5 of 2 total, top 2 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
| pChembl | Type | Value | Unit | Molecule |
|---|---|---|---|---|
| 7.50 | Kd | 31.99 | nM | CHEMBL5653589 |
| 7.50 | ED50 | 31.99 | nM | CHEMBL5653589 |
PubChem BioAssay actives
1 with measured affinity, of 2 total; 1 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.
| Compound | Assay | Type | Value | Unit |
|---|---|---|---|---|
| 4-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide | 2148349: Binding affinity to human EXOC3 incubated for 45 mins by Kinobead based pull down assay | kd | 0.0320 | uM |
CTD chemical–gene interactions
48 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol A | decreases methylation, decreases expression, affects cotreatment | 2 |
| Air Pollutants | affects expression, affects cotreatment, increases abundance, increases oxidation | 2 |
| Ozone | affects expression, affects cotreatment, increases oxidation, increases abundance | 2 |
| Tretinoin | increases expression | 2 |
| bisphenol F | affects cotreatment, decreases expression | 1 |
| 2,4,6-tribromophenol | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| alpha-pinene | affects cotreatment, increases oxidation, increases abundance | 1 |
| beta-lapachone | decreases expression, increases expression | 1 |
| 11-nor-delta(9)-tetrahydrocannabinol-9-carboxylic acid | affects methylation, increases abundance | 1 |
| sodium arsenite | decreases expression | 1 |
| tetrabromobisphenol A | decreases expression | 1 |
| methacrylaldehyde | increases oxidation, increases abundance, affects cotreatment | 1 |
| tamibarotene | affects expression | 1 |
| abrine | increases expression | 1 |
| 2,2’,4,4’-tetrabromodiphenyl ether | decreases expression | 1 |
| hexabrominated diphenyl ether 153 | decreases expression | 1 |
| bisphenol S | affects cotreatment, decreases expression | 1 |
| NSC 689534 | affects binding, increases expression | 1 |
| Fulvestrant | affects cotreatment, decreases methylation | 1 |
| Acrolein | affects cotreatment, increases oxidation, increases abundance | 1 |
| Ethanol | affects cotreatment, increases abundance, increases expression | 1 |
| Arsenic | affects methylation | 1 |
| Benzo(a)pyrene | decreases methylation, increases methylation | 1 |
| Cadmium | increases expression | 1 |
| Caffeine | decreases phosphorylation | 1 |
| Cannabinoids | affects methylation, increases abundance | 1 |
| Cisplatin | affects cotreatment, increases expression | 1 |
| Copper | affects binding, increases expression | 1 |
| Dexamethasone | affects cotreatment, decreases expression | 1 |
ChEMBL screening assays
1 unique, capped per target: 1 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL5651391 | Binding | Binding affinity to human EXOC3 incubated for 45 mins by Kinobead based pull down assay | NVP-BHG712: Effects of Regioisomers on the Affinity and Selectivity toward the EPHrin Family. — ChemMedChem |
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): hypospadias