EXOC6
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Also known as SEC15LFLJ1125DKFZp761I2124MGC33397Sec15EXOC6A
Summary
EXOC6 (exocyst complex component 6, HGNC:23196) is a protein-coding gene on chromosome 10q23.33, encoding Exocyst complex component 6 (Q8TAG9). Component of the exocyst complex involved in the docking of exocytic vesicles with fusion sites on the plasma membrane.
The protein encoded by this gene is highly similar to the Saccharomyces cerevisiae SEC15 gene product, which is essential for vesicular traffic from the Golgi apparatus to the cell surface in yeast. It is one of the components of a multiprotein complex required for exocytosis. The 5’ portion of this gene and two neighboring cytochrome p450 genes are included in a deletion that results in an autosomal-dominant form of nonsyndromic optic nerve aplasia (ONA). Alternative splicing and the use of alternative promoters results in multiple transcript variants. A paralogous gene encoding a similar protein is present on chromosome 2.
Source: NCBI Gene 54536 — RefSeq curated summary.
At a glance
- GWAS associations: 18
- Clinical variants (ClinVar): 115 total
- MANE Select transcript:
NM_019053
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:23196 |
| Approved symbol | EXOC6 |
| Name | exocyst complex component 6 |
| Location | 10q23.33 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | SEC15L, FLJ1125, DKFZp761I2124, MGC33397, Sec15, EXOC6A |
| Ensembl gene | ENSG00000138190 |
| Ensembl biotype | protein_coding |
| OMIM | 609672 |
| Entrez | 54536 |
Gene structure
Transcript identifiers
Ensembl transcripts: 9 — 7 protein_coding, 1 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined
ENST00000260762, ENST00000371543, ENST00000371552, ENST00000443748, ENST00000458552, ENST00000495132, ENST00000497262, ENST00000671701, ENST00000672817
RefSeq mRNA: 5 — MANE Select: NM_019053
NM_001013848, NM_001319194, NM_001319195, NM_001319200, NM_019053
CCDS: CCDS31247, CCDS7424, CCDS81487
Canonical transcript exons
ENST00000260762 — 22 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000932902 | 92997474 | 92997615 |
| ENSE00001092299 | 92952273 | 92952382 |
| ENSE00001092302 | 92954630 | 92954741 |
| ENSE00001092305 | 92934310 | 92934430 |
| ENSE00001092306 | 92955580 | 92955714 |
| ENSE00001092308 | 92948274 | 92948379 |
| ENSE00001092309 | 92974053 | 92974232 |
| ENSE00001092311 | 92940727 | 92940824 |
| ENSE00001092313 | 92935814 | 92935885 |
| ENSE00001609010 | 92894930 | 92895020 |
| ENSE00001646597 | 92915758 | 92915913 |
| ENSE00001695079 | 92893349 | 92893520 |
| ENSE00001711379 | 92928339 | 92928422 |
| ENSE00001712164 | 92899599 | 92899644 |
| ENSE00001765204 | 92909427 | 92909631 |
| ENSE00001780826 | 92919982 | 92920050 |
| ENSE00001791133 | 92894794 | 92894841 |
| ENSE00001838377 | 93058223 | 93059490 |
| ENSE00001951215 | 92848520 | 92848634 |
| ENSE00002431663 | 92934144 | 92934190 |
| ENSE00003560949 | 93056924 | 93057036 |
| ENSE00003786631 | 93014194 | 93014267 |
Expression profiles
Bgee: expression breadth ubiquitous, 249 present calls, max score 95.18.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 16.8194 / max 315.7795, expressed in 1716 samples.
FANTOM5 promoters (9 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 106264 | 12.7440 | 1671 |
| 106263 | 3.1419 | 1306 |
| 106256 | 0.4374 | 125 |
| 106253 | 0.2070 | 89 |
| 106254 | 0.1151 | 66 |
| 106259 | 0.0650 | 33 |
| 106255 | 0.0572 | 28 |
| 106258 | 0.0319 | 13 |
| 106257 | 0.0199 | 8 |
Top tissues by expression
257 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| deltoid | UBERON:0001476 | 95.18 | gold quality |
| epithelial cell of pancreas | CL:0000083 | 94.86 | gold quality |
| vastus lateralis | UBERON:0001379 | 94.12 | gold quality |
| quadriceps femoris | UBERON:0001377 | 93.77 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 92.59 | gold quality |
| tibialis anterior | UBERON:0001385 | 92.18 | gold quality |
| adrenal tissue | UBERON:0018303 | 92.12 | gold quality |
| buccal mucosa cell | CL:0002336 | 92.08 | gold quality |
| skeletal muscle tissue | UBERON:0001134 | 91.90 | gold quality |
| skeletal muscle tissue of biceps brachii | UBERON:0004502 | 91.68 | gold quality |
| biceps brachii | UBERON:0001507 | 91.63 | gold quality |
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 90.52 | gold quality |
| muscle tissue | UBERON:0002385 | 90.17 | gold quality |
| islet of Langerhans | UBERON:0000006 | 88.95 | gold quality |
| cortical plate | UBERON:0005343 | 88.54 | gold quality |
| skeletal muscle organ | UBERON:0014892 | 88.35 | gold quality |
| placenta | UBERON:0001987 | 88.25 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 87.32 | gold quality |
| visceral pleura | UBERON:0002401 | 87.29 | gold quality |
| muscle of leg | UBERON:0001383 | 87.14 | gold quality |
| endothelial cell | CL:0000115 | 86.90 | gold quality |
| gastrocnemius | UBERON:0001388 | 86.76 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 86.58 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 86.50 | gold quality |
| ventricular zone | UBERON:0003053 | 86.12 | gold quality |
| blood | UBERON:0000178 | 86.04 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 85.63 | gold quality |
| pigmented layer of retina | UBERON:0001782 | 85.55 | gold quality |
| retina | UBERON:0000966 | 85.53 | gold quality |
| embryo | UBERON:0000922 | 85.20 | gold quality |
Single-cell (SCXA)
Detected in 4 experiment(s), a significant marker in 4.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-7316 | yes | 35.12 |
| E-GEOD-81608 | yes | 4.98 |
| E-GEOD-81547 | yes | 4.59 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
89 targeting EXOC6, 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-4668-3P | 100.00 | 68.74 | 2635 |
| HSA-MIR-30A-5P | 100.00 | 76.31 | 3233 |
| HSA-MIR-30B-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30C-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30D-5P | 100.00 | 76.32 | 3233 |
| HSA-MIR-30E-5P | 100.00 | 76.32 | 3242 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-4692 | 100.00 | 67.32 | 2066 |
| HSA-MIR-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-4682 | 100.00 | 68.89 | 1258 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-4514 | 99.99 | 67.10 | 1870 |
| HSA-MIR-3692-3P | 99.98 | 70.27 | 2139 |
| HSA-MIR-548AN | 99.97 | 70.91 | 2817 |
| HSA-MIR-607 | 99.97 | 73.62 | 5593 |
| HSA-MIR-493-5P | 99.96 | 72.47 | 2382 |
| HSA-MIR-551B-5P | 99.96 | 71.28 | 3493 |
| HSA-MIR-23A-3P | 99.95 | 74.24 | 3163 |
| HSA-MIR-23B-3P | 99.95 | 74.24 | 3163 |
| HSA-MIR-23C | 99.95 | 73.92 | 3192 |
| HSA-MIR-7-1-3P | 99.91 | 71.53 | 4384 |
| HSA-MIR-7-2-3P | 99.91 | 71.40 | 4394 |
| HSA-MIR-1305 | 99.91 | 71.43 | 3443 |
| HSA-MIR-3686 | 99.90 | 70.53 | 2432 |
| HSA-MIR-3529-3P | 99.90 | 73.55 | 3045 |
| HSA-MIR-153-5P | 99.89 | 73.86 | 6317 |
| HSA-MIR-548AZ-5P | 99.83 | 69.94 | 3230 |
| HSA-MIR-548T-5P | 99.83 | 69.91 | 3220 |
| HSA-MIR-3121-3P | 99.82 | 71.96 | 3630 |
| HSA-MIR-4799-5P | 99.82 | 70.60 | 2663 |
Literature-anchored findings (GeneRIF, showing 4)
- Sec15 has a role as an effector for the Rab11 GTPase in mammalian cells (PMID:15292201)
- The SEC15 protein plays a crucial role in integrating the signals between Sec4p and the components of the early-polarity-establishment machinery. (PMID:16478783)
- coordinated disruption of the Rab11/Sec15 exocyst by anthrax toxins may contribute to toxin-dependent barrier disruption and vascular dysfunction during B. anthracis infection (PMID:20944747)
- NDR2-mediated Rabin8 phosphorylation is crucial for ciliogenesis by triggering the switch in binding specificity of Rabin8 from PS to Sec15. (PMID:23435566)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | exoc6 | ENSDARG00000020521 |
| mus_musculus | Exoc6 | ENSMUSG00000053799 |
| rattus_norvegicus | Exoc6 | ENSRNOG00000036601 |
| drosophila_melanogaster | Sec15 | FBGN0266674 |
| caenorhabditis_elegans | WBGENE00016188 |
Paralogs (1): EXOC6B (ENSG00000144036)
Protein
Protein identifiers
Exocyst complex component 6 — Q8TAG9 (reviewed: Q8TAG9)
Alternative names: Exocyst complex component Sec15A, SEC15-like protein 1
All UniProt accessions (5): Q8TAG9, B1AP46, E7EW84, F2Z3K0, H0Y5J8
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. Together with RAB11A, RAB3IP, RAB8A, PARD3, PRKCI, ANXA2, CDC42 and DNMBP promotes transcytosis of PODXL to the apical membrane initiation sites (AMIS), apical surface formation and lumenogenesis.
Subunit / interactions. The exocyst complex is composed of EXOC1, EXOC2, EXOC3, EXOC4, EXOC5, EXOC6, EXOC7 and EXOC8. Interacts with CNTRL. Interacts with RAB11A in a GTP-dependent manner.
Subcellular location. Cytoplasm. Perinuclear region. Cell projection. Growth cone. Midbody. Midbody ring.
Similarity. Belongs to the SEC15 family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q8TAG9-1 | 1 | yes |
| Q8TAG9-2 | 2 |
RefSeq proteins (5): NP_001013870, NP_001306123, NP_001306124, NP_001306129, NP_061926* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR007225 | EXOC6/Sec15 | Family |
| IPR042044 | EXOC6PINT-1/Sec15/Tip20_C_dom2 | Homologous_superfamily |
| IPR042045 | EXOC6/Sec15_C_dom1 | Homologous_superfamily |
| IPR046361 | EXOC6/Sec15_C | Domain |
| IPR048359 | EXOC6_Sec15_N | Domain |
Pfam: PF04091, PF20651
UniProt features (6 total): sequence variant 3, chain 1, splice variant 1, sequence conflict 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8TAG9-F1 | 82.02 | 0.42 |
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: 221 (showing top):
WENDT_COHESIN_TARGETS_UP, GOBP_MITOTIC_CYTOKINESIS, RNGTGGGC_UNKNOWN, GOBP_VESICLE_LOCALIZATION, GOBP_INTRACELLULAR_PROTEIN_TRANSPORT, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_DN, IVANOVA_HEMATOPOIESIS_LATE_PROGENITOR, GOBP_VESICLE_TARGETING, GOBP_VESICLE_MEDIATED_TRANSPORT, TAL1ALPHAE47_01, REACTOME_MEMBRANE_TRAFFICKING, CAGCTG_AP4_Q5, YY1_Q6, GOBP_MEMBRANE_DOCKING
GO Biological Process (8): mitotic cytokinesis (GO:0000281), intracellular protein transport (GO:0006886), exocytosis (GO:0006887), Golgi to plasma membrane transport (GO:0006893), obsolete vesicle docking involved in exocytosis (GO:0006904), membrane fission (GO:0090148), obsolete vesicle tethering involved in exocytosis (GO:0090522), protein transport (GO:0015031)
GO Molecular Function (1): protein binding (GO:0005515)
GO Cellular Component (8): exocyst (GO:0000145), cytosol (GO:0005829), plasma membrane (GO:0005886), growth cone (GO:0030426), perinuclear region of cytoplasm (GO:0048471), Flemming body (GO:0090543), cytoplasm (GO:0005737), cell projection (GO:0042995)
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 | 5 |
| intracellular protein localization | 2 |
| cytoplasm | 2 |
| mitotic cell cycle | 1 |
| cytoskeleton-dependent cytokinesis | 1 |
| mitotic cell cycle process | 1 |
| protein transport | 1 |
| intracellular transport | 1 |
| vesicle-mediated transport | 1 |
| secretion by cell | 1 |
| vesicle fusion to plasma membrane | 1 |
| post-Golgi vesicle-mediated transport | 1 |
| vesicle-mediated transport to the plasma membrane | 1 |
| membrane organization | 1 |
| transport | 1 |
| establishment of protein localization | 1 |
| binding | 1 |
| cell cortex | 1 |
| vesicle tethering complex | 1 |
| membrane | 1 |
| cell periphery | 1 |
| site of polarized growth | 1 |
| distal axon | 1 |
| midbody | 1 |
| intracellular anatomical structure | 1 |
Protein interactions and networks
STRING
1392 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| EXOC6 | EXOC2 | Q96KP1 | 999 |
| EXOC6 | EXOC4 | Q96A65 | 999 |
| EXOC6 | EXOC5 | O00471 | 999 |
| EXOC6 | EXOC8 | Q8IYI6 | 999 |
| EXOC6 | EXOC1 | Q9NV70 | 999 |
| EXOC6 | EXOC7 | Q9UPT5 | 999 |
| EXOC6 | EXOC3 | O60645 | 998 |
| EXOC6 | RAB11A | P24410 | 998 |
| EXOC6 | FUT2 | Q10981 | 959 |
| EXOC6 | RAB10 | P61026 | 921 |
| EXOC6 | RAB8A | P24407 | 891 |
| EXOC6 | RAB3IP | Q96QF0 | 881 |
| EXOC6 | MYO5B | Q9ULV0 | 752 |
| EXOC6 | RABIF | P47224 | 714 |
| EXOC6 | HBD | P02042 | 713 |
IntAct
130 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 |
| DSN1 | NDC80 | 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 |
| SCN2B | EXOC5 | psi-mi:“MI:0914”(association) | 0.640 |
| GYPA | TCAF2 | psi-mi:“MI:0914”(association) | 0.640 |
| EXOC6 | GLE1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| EXOC6 | SPRED1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| APLNR | METTL15 | psi-mi:“MI:0914”(association) | 0.530 |
| NPY2R | RTL8C | psi-mi:“MI:0914”(association) | 0.530 |
| DSN1 | EXOC5 | psi-mi:“MI:0914”(association) | 0.530 |
| FAM174A | BLTP3B | psi-mi:“MI:0914”(association) | 0.530 |
| CXCR4 | TMEM120B | psi-mi:“MI:0914”(association) | 0.530 |
| MAS1 | POTEF | psi-mi:“MI:0914”(association) | 0.530 |
| CD70 | METTL15 | psi-mi:“MI:0914”(association) | 0.530 |
BioGRID (156): EXOC6 (Affinity Capture-MS), EXOC6 (Affinity Capture-MS), EXOC6 (Affinity Capture-MS), EXOC6 (Affinity Capture-MS), EXOC6 (Co-fractionation), EXOC6 (Co-fractionation), EXOC6 (Co-fractionation), EXOC6 (Co-fractionation), EXOC6 (Co-fractionation), EXOC8 (Co-fractionation), NAE1 (Co-fractionation), EXOC6 (Affinity Capture-MS), EXOC6 (Affinity Capture-MS), EXOC6 (Affinity Capture-Western), EXOC6 (Affinity Capture-Western)
ESM2 similar proteins: A2A432, A6H5Z3, A9X1D0, B0VX69, B1MTJ4, B2KI88, B5FW36, C1FXW2, E2R766, E2RBS6, F1LSG8, O43242, O54923, O55047, O70133, P60762, Q13098, Q13619, Q13620, Q29425, Q2KJ46, Q3TCH7, Q4V860, Q5NVP9, Q5R5J4, Q5RAN1, Q5RB36, Q5VIR6, Q5ZKV9, Q5ZLD7, Q5ZML9, Q6AYU1, Q6NRT5, Q6NZH6, Q86TU7, Q8CCB4, Q8CI71, Q8K4Q0, Q8N122, Q8R3S6
Diamond homologs: A6H5Z3, E2R766, O54923, Q18286, Q8R313, Q8TAG9, Q9VDE6, Q9Y2D4
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| EXOC6 | “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 | 8 | 48.3× | 1e-09 |
| Insulin processing | 7 | 37.2× | 1e-07 |
| Translocation of SLC2A4 (GLUT4) to the plasma membrane | 8 | 14.4× | 1e-05 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| obsolete vesicle docking involved in exocytosis | 9 | 55.7× | 1e-11 |
| Golgi to plasma membrane transport | 6 | 30.9× | 5e-06 |
| membrane fission | 8 | 30.2× | 5e-08 |
| mitotic cytokinesis | 8 | 19.0× | 1e-06 |
| exocytosis | 10 | 13.9× | 5e-07 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
115 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 78 |
| Likely benign | 4 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
5263 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 10:92867211:A:G | donor_gain | 1.0000 |
| 10:92893347:A:G | acceptor_loss | 1.0000 |
| 10:92893348:GGTCT:G | acceptor_gain | 1.0000 |
| 10:92893517:GAAG:G | donor_gain | 1.0000 |
| 10:92893518:AAGG:A | donor_loss | 1.0000 |
| 10:92893520:GGT:G | donor_loss | 1.0000 |
| 10:92893521:G:C | donor_loss | 1.0000 |
| 10:92893521:G:GG | donor_gain | 1.0000 |
| 10:92893522:T:G | donor_loss | 1.0000 |
| 10:92894927:A:AG | acceptor_gain | 1.0000 |
| 10:92894927:AAG:A | acceptor_gain | 1.0000 |
| 10:92894927:AAGGT:A | acceptor_gain | 1.0000 |
| 10:92894928:A:G | acceptor_gain | 1.0000 |
| 10:92895017:CCTGG:C | donor_loss | 1.0000 |
| 10:92895018:CTGG:C | donor_loss | 1.0000 |
| 10:92895019:TGG:T | donor_loss | 1.0000 |
| 10:92895020:GGTGA:G | donor_loss | 1.0000 |
| 10:92895021:G:T | donor_loss | 1.0000 |
| 10:92895022:TGA:T | donor_loss | 1.0000 |
| 10:92895023:GAG:G | donor_loss | 1.0000 |
| 10:92899597:A:AG | acceptor_gain | 1.0000 |
| 10:92899598:G:GA | acceptor_gain | 1.0000 |
| 10:92909421:TCACA:T | acceptor_loss | 1.0000 |
| 10:92909582:A:T | donor_gain | 1.0000 |
| 10:92909632:GT:G | donor_loss | 1.0000 |
| 10:92909633:T:A | donor_loss | 1.0000 |
| 10:92915913:GGTGA:G | donor_gain | 1.0000 |
| 10:92928335:TTAG:T | acceptor_loss | 1.0000 |
| 10:92928336:TAG:T | acceptor_loss | 1.0000 |
| 10:92928337:A:AG | acceptor_gain | 1.0000 |
AlphaMissense
5385 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 10:92928379:G:C | R310T | 1.000 |
| 10:92928380:A:C | R310S | 1.000 |
| 10:92928380:A:T | R310S | 1.000 |
| 10:92955611:T:C | L557P | 1.000 |
| 10:92974186:T:C | L636P | 1.000 |
| 10:93056934:T:C | L727P | 1.000 |
| 10:93056951:T:A | W733R | 1.000 |
| 10:93056951:T:C | W733R | 1.000 |
| 10:92893486:T:C | L80P | 0.999 |
| 10:92909575:T:C | F203L | 0.999 |
| 10:92909577:T:A | F203L | 0.999 |
| 10:92909577:T:G | F203L | 0.999 |
| 10:92909612:G:A | G215D | 0.999 |
| 10:92928379:G:T | R310I | 0.999 |
| 10:92928390:G:C | A314P | 0.999 |
| 10:92928397:T:C | L316P | 0.999 |
| 10:92934189:G:T | G340W | 0.999 |
| 10:92934190:G:A | G340E | 0.999 |
| 10:92934311:T:C | F341L | 0.999 |
| 10:92934313:C:A | F341L | 0.999 |
| 10:92934313:C:G | F341L | 0.999 |
| 10:92940797:T:C | L428P | 0.999 |
| 10:92952301:C:T | S482F | 0.999 |
| 10:92952360:T:C | F502L | 0.999 |
| 10:92952362:T:A | F502L | 0.999 |
| 10:92952362:T:G | F502L | 0.999 |
| 10:92954657:A:C | R518S | 0.999 |
| 10:92954657:A:T | R518S | 0.999 |
| 10:92954677:T:C | L525P | 0.999 |
| 10:92955600:C:A | N553K | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000008465 (10:93032918 A>G), RS1000018395 (10:92858325 T>A,C), RS1000032412 (10:92913071 A>G,T), RS1000038098 (10:93038427 A>G), RS1000038172 (10:92856508 TTC>T), RS1000065549 (10:92993362 C>T), RS1000074344 (10:92856750 C>T), RS1000078370 (10:93054900 C>T), RS1000087859 (10:92864333 G>A), RS1000095825 (10:92899166 G>A), RS1000101169 (10:92964035 A>G), RS1000126531 (10:92999577 G>A), RS1000127508 (10:93016874 G>A), RS1000135712 (10:92841048 C>CT), RS1000153819 (10:92873716 A>G,T)
Disease associations
OMIM: gene MIM:609672 | disease phenotypes:
GenCC curated gene-disease
Mondo (1): breast ductal adenocarcinoma (MONDO:0005590)
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
18 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST004904_161 | Body mass index | 3.000000e-12 |
| GCST004904_51 | Body mass index | 2.000000e-09 |
| GCST005160_2 | Insulin levels in response to oral glucose tolerance test (30 minutes) | 5.000000e-07 |
| GCST005194_196 | Coronary artery disease | 4.000000e-06 |
| GCST005407_1 | Glaucoma (primary open-angle) | 2.000000e-06 |
| GCST005980_20 | Total bilirubin levels | 1.000000e-09 |
| GCST006001_27 | Hemoglobin A1c levels | 2.000000e-11 |
| GCST006005_6 | High density lipoprotein cholesterol levels | 1.000000e-10 |
| GCST006394_73 | Intraocular pressure | 8.000000e-12 |
| GCST007876_115 | Estimated glomerular filtration rate | 1.000000e-09 |
| GCST009440_8 | Age-related cognitive decline (attention/processing speed) (slope of z-scores) | 7.000000e-06 |
| GCST009602_86 | Metabolic syndrome | 4.000000e-08 |
| GCST010002_297 | Refractive error | 3.000000e-23 |
| GCST010796_3318 | Electrocardiogram morphology (amplitude at temporal datapoints) | 3.000000e-08 |
| GCST011348_23 | High density lipoprotein cholesterol levels | 2.000000e-10 |
| GCST012442_14 | Age-related hearing impairment | 5.000000e-10 |
| GCST90002382_195 | Eosinophil percentage of white cells | 2.000000e-13 |
| GCST90002401_217 | Platelet distribution width | 8.000000e-12 |
EFO canonical traits (12, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004340 | body mass index |
| EFO:0004307 | glucose tolerance test |
| EFO:0004467 | insulin measurement |
| EFO:0004570 | bilirubin measurement |
| EFO:0004541 | HbA1c measurement |
| EFO:0004612 | high density lipoprotein cholesterol measurement |
| EFO:0004695 | intraocular pressure measurement |
| EFO:0007710 | cognitive decline measurement |
| EFO:0000195 | metabolic syndrome |
| EFO:0004327 | electrocardiography |
| EFO:0007991 | eosinophil percentage of leukocytes |
| EFO:0007984 | platelet component distribution width |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D018270 | Carcinoma, Ductal, Breast | C04.557.470.200.025.232.500; C04.557.470.615.132.500; C04.588.180.390; C17.800.090.500.390 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
41 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| trichostatin A | affects cotreatment, decreases expression | 3 |
| Benzo(a)pyrene | decreases expression | 3 |
| sodium arsenite | decreases expression, increases abundance | 2 |
| Arsenic | affects methylation, decreases expression, increases abundance | 2 |
| Aflatoxin B1 | decreases expression, decreases methylation | 2 |
| aristolochic acid I | decreases expression | 1 |
| dicrotophos | decreases expression | 1 |
| methylmercuric chloride | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| bisphenol A | increases methylation | 1 |
| cobaltous chloride | decreases expression | 1 |
| manganese chloride | decreases expression | 1 |
| potassium chromate(VI) | affects cotreatment, decreases expression | 1 |
| nickel sulfate | decreases expression | 1 |
| epigallocatechin gallate | affects cotreatment, decreases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| K 7174 | increases expression | 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 |
| jinfukang | decreases expression | 1 |
| incobotulinumtoxinA | decreases expression | 1 |
| Resveratrol | affects cotreatment, increases expression | 1 |
| Temozolomide | increases expression | 1 |
| Cisplatin | decreases expression | 1 |
| Dimethyl Sulfoxide | increases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Estradiol | affects cotreatment, decreases expression | 1 |
| Formaldehyde | decreases expression | 1 |
| Lead | affects expression | 1 |
| Manganese | decreases expression | 1 |
Clinical trials (associated diseases)
11 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT03414970 | PHASE3 | ACTIVE_NOT_RECRUITING | Hypofractionated Radiation Therapy After Mastectomy in Preventing Recurrence in Patients With Stage IIa-IIIa Breast Cancer |
| NCT00461344 | PHASE2 | TERMINATED | Docetaxel + Doxorubicin as Neoadjuvant Chemotherapy in Patients With Breast Cancer |
| NCT07499999 | PHASE2 | NOT_YET_RECRUITING | Randomized Double-Blind Phase II Trial of Baby Exemestane Versus Baby Tamoxifen in Post-Menopausal Women at High Risk for Breast Cancer |
| NCT00637364 | PHASE1/PHASE2 | SUSPENDED | High Intensity Focused Ultrasound Tumor Treatment for Pancreatic Cancer Pain |
| NCT02779855 | PHASE1/PHASE2 | COMPLETED | Talimogene Laherparepvec in Combination With Neoadjuvant Chemotherapy in Triple Negative Breast Cancer |
| NCT01753908 | EARLY_PHASE1 | COMPLETED | Broccoli Sprout Extract in Treating Patients With Breast Cancer |
| NCT01796041 | EARLY_PHASE1 | COMPLETED | Intraoperative Imaging of Breast Cancer With Indocyanine Green |
| NCT01208974 | Not specified | ACTIVE_NOT_RECRUITING | Nipple-Areola Complex (NAC) Irradiation After Nipple-Sparing Mastectomy and Reconstruction |
| NCT01875198 | Not specified | TERMINATED | Oncologic Impact of Splenectomy-omitting Radical Pancreatectomy in Well-selected Left-sided Pancreatic Cancer |
| NCT03543397 | Not specified | UNKNOWN | MRI in Ductal Carcinoma in Situ (DCIS) |
| NCT03834532 | Not specified | COMPLETED | Living Well After Breast Surgery |
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): open-angle glaucoma, presbycusis