SEC61B
SEC61 Translocon Subunit Beta
Gene Information Card
| Symbol | SEC61B |
|---|---|
| Full Name | SEC61 Translocon Subunit Beta |
| Gene Type | Protein coding |
| Chromosomal Location | 9q22.33 |
| NCBI Gene ID | 10952 ncbi.nlm.nih.gov/gene/10952 |
| Ensembl ID | ENSG00000106803 |
| UniProt ID | P60468 |
| OMIM ID | 609214 |
| HGNC ID | 10684 |
| Aliases | SEC61B1, SEC61BETA |
Description
SEC61B encodes the beta subunit of the SEC61 translocon complex, a heterotrimeric channel in the endoplasmic reticulum (ER) membrane that mediates the translocation of nascent secretory and membrane proteins into the ER lumen. The beta subunit is a non-essential component that modulates channel gating and stability. The gene is located on chromosome 9q22.33 and is widely expressed.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Immunodeficiency 81 (IMD81) | Loss-of-function mutations in SEC61B impair ER protein translocation, leading to defective B cell development and antibody production. | ClinVar, OMIM |
| Plasmacytoma | SEC61B overexpression is observed in some plasma cell neoplasms, potentially contributing to ER stress adaptation. | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Pancreas | 32.5 | High |
| Liver | 25.1 | High |
| Kidney | 20.3 | High |
| Lung | 15.8 | Medium |
| Brain | 10.2 | Medium |
| Heart | 8.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 28.0 | High expression |
| HeLa | 22.5 | High expression |
| K562 | 18.0 | Medium expression |
| HepG2 | 20.1 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Loss of start codon, predicted loss of function |
| c.68C>T (p.Pro23Leu) | Missense | Rare | Impaired translocon function, associated with IMD81 |
| c.200_201del (p.Glu67fs) | Frameshift | Rare | Premature truncation, loss of function |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations in SEC61B cause immunodeficiency 81 due to defective ER protein translocation.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Protein processing in endoplasmic reticulum (KEGG: hsa04141)
• SRP-dependent cotranslational protein targeting to membrane (Reactome: R-HSA-1799339)
Protein Summary
SEC61B is a 96-amino acid integral membrane protein (UniProt P60468) that forms part of the SEC61 translocon complex. It is localized to the ER membrane and contains a single transmembrane domain. The protein stabilizes the translocon pore and regulates its gating. It is ubiquitously expressed with highest levels in secretory tissues such as pancreas and liver.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SEC61B Knockout HCT 116 Cell Line | EDJ-KQ18169 | Human | 10952 | Details Get a Quote |
| SEC61B Knockout HEK293 Cell Line | EDJ-KQ51024 | Human | 10952 | Details Get a Quote |
| SEC61B Knockout HeLa Cell Line | EDJ-KQ55534 | Human | 10952 | Details Get a Quote |
| SEC61B Knockout A-549 Cell Line | EDJ-KQ64025 | Human | 10952 | Details Get a Quote |
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