EXOC3
protein-codingexocyst complex component 3, the group of Exocyst complex
Gene summary
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. [provided by RefSeq, Jul 2008]
- SEC6L1
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~28.8 kbGenCC Phenotypes & Disease Associations
Curated gene-disease validity assertions and inheritance patterns
No GenCC data available for this gene.
ClinVar Associated Diseases & Phenotypes
Reported disease conditions connected to EXOC3 variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_007277.5. Only rare variants are included.
We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.
Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.
| Effect | PathogenicP | Likely pathogenicLP | VUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 1 | 2 | 3 | |||
| missense | 111 | 2 | 1 | 114 | ||
| nonsense | 2 | 2 | ||||
| start loss | 0 | |||||
| frameshift | 1 | 1 | ||||
| splice donor/acceptor (+/-2bp) | 2 | 2 | ||||
| Total | 0 | 0 | 116 | 3 | 3 | 122 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_009208.2 | 12 | MANE Select | |
| Ensembl | ENSP00000425587.1 | 12 | MANE Select | |
| Ensembl | ENSP00000323377.5 | 12 | Standard | |
| Ensembl | ENSP00000423435.1 | 7 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Pathways ConsensusPathDB
- Arf6 trafficking events
- VxPx cargo-targeting to cilium
- Stabilization and expansion of the E-cadherin adherens junction
- Insulin Pathway
- Cargo trafficking to the periciliary membrane
Biological Process
- exocytosis
- protein transport
- exocyst localization
Molecular Function
- SNARE binding
- protein binding
- cadherin binding
Cellular Component
- exocyst
- Golgi apparatus
- cytosol
- growth cone
- midbody
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000512944
- Coding exons
- 12
- Length
- 28780
- Individuals with no LoFs
- 124660
- Homozygous LoFs
- 0
- Heterozygous LoFs
- 10
- Defined
- 124670
- p
- 0.0000401
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | 2.43 | 306 | 452 | 0.678 | 0.0000294 | 4879 |
| Missense (PolyPhen) | 167 | 254.75 | 0.65554 | 2687 | ||
| Synonymous | -0.586 | 199 | 189 | 1.05 | 0.0000136 | 1401 |
| Loss of Function | 4.25 | 5 | 30.2 | 0.166 | 0.00000128 | 390 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0 | 0.0 | absent |
| Latino/Admixed American | 0.000058 | 0.000058 | rare |
| Ashkenazi Jewish | 0.000099 | 0.000099 | rare |
| East Asian | 0 | 0.0 | absent |
| Finnish | 0 | 0.0 | absent |
| European (Non-Finnish) | 0.000049 | 0.000035 | rare |
| South Asian | 0.000098 | 0.000098 | rare |
| Other | 0 | 0.0 | absent |
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: Component of the exocyst complex involved in the docking of exocytic vesicles with fusion sites on the plasma membrane.;
Recessive Scores
- pRec
- 0.175
Intolerance Scores
- LoFtool
- 0.371
- RVIS EVS
- -1.6
- RVIS percentile EVS
- 3.04
Essentials
- Essential (CRISPR)
- N
- Essential (CRISPR2)
- E
- Indispensability pred.
- E
- Indispensability score
- 0.818
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |