SEC61G
protein-codingSEC61 translocon subunit gamma
Gene summary
The Sec61 complex is the central component of the protein translocation apparatus of the endoplasmic reticulum (ER) membrane. Oligomers of the Sec61 complex form a transmembrane channel where proteins are translocated across and integrated into the ER membrane. This complex consists of three membrane proteins- alpha, beta, and gamma. This gene encodes the gamma-subunit protein. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008]
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~7.7 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 SEC61G variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_014302.4. 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 | 0 | |||||
| missense | 3 | 3 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 3 | 3 | ||||
| Total | 0 | 0 | 6 | 0 | 0 | 6 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_055117.1 | 3 | MANE Select | |
| Ensembl | ENSP00000341538.4 | 3 | MANE Select | |
| RefSeq | NP_001012474.1 | 3 | Standard | |
| Ensembl | ENSP00000378906.3 | 3 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Pathways ConsensusPathDB
- Protein export - Homo sapiens (human)
- Phagosome - Homo sapiens (human)
- Protein processing in endoplasmic reticulum - Homo sapiens (human)
- Vibrio cholerae infection - Homo sapiens (human)
- XBP1(S) activates chaperone genes
Biological Process
- protein targeting to ER
- protein transmembrane transport
Molecular Function
- protein binding
- protein transporter activity
- P-P-bond-hydrolysis-driven protein transmembrane transporter activity
Cellular Component
- endoplasmic reticulum membrane
- cytosol
- membrane
- integral component of membrane
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000415949
- Coding exons
- 3
- Length
- 7725
- Individuals with no LoFs
- 120649
- Homozygous LoFs
- 0
- Heterozygous LoFs
- 2
- Defined
- 120651
- p
- 0.00000829
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | 1.26 | 16 | 37.8 | 0.423 | 0.00000193 | 453 |
| Missense (PolyPhen) | 2 | 3.8553 | 0.51876 | 52 | ||
| Synonymous | -0.519 | 13 | 10.8 | 1.20 | 4.62e-7 | 121 |
| Loss of Function | 1.65 | 0 | 3.19 | 0.00 | 1.34e-7 | 42 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0 | 0.0 | absent |
| Latino/Admixed American | 0.000032 | 0.000032 | rare |
| Ashkenazi Jewish | 0 | 0.0 | absent |
| East Asian | 0 | 0.0 | absent |
| Finnish | 0 | 0.0 | absent |
| European (Non-Finnish) | 0.0000090 | 0.0000090 | rare |
| South Asian | 0 | 0.0 | absent |
| Other | 0 | 0.0 | absent |
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: Component of SEC61 channel-forming translocon complex that mediates transport of signal peptide-containing precursor polypeptides across endoplasmic reticulum (ER). {ECO:0000250|UniProtKB:P60058}.;
Intolerance Scores
- LoFtool
- 0.410
- RVIS EVS
- 0.15
- RVIS percentile EVS
- 63.81
Essentials
- Essential (CRISPR)
- N
- Essential (CRISPR2)
- S
- Indispensability pred.
- N
- Indispensability score
- 0.114