SEC61A2
SEC61 Translocon Subunit Alpha 2
Gene Information Card
| Symbol | SEC61A2 |
|---|---|
| Full Name | SEC61 translocon subunit alpha 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 10p14 |
| NCBI Gene ID | 196441 ncbi.nlm.nih.gov/gene/196441 |
| Ensembl ID | ENSG00000165630 |
| UniProt ID | Q9H9S3 |
| OMIM ID | 616059 |
| HGNC ID | 30306 |
| Aliases | SEC61A2, SEC61 alpha 2, SEC61A, SEC61A1-like |
Description
SEC61A2 is a protein-coding gene that encodes the alpha-2 subunit of the SEC61 translocon complex. This complex forms a channel in the endoplasmic reticulum (ER) membrane that mediates the translocation of nascent secretory and membrane proteins into the ER lumen. SEC61A2 is ubiquitously expressed and plays a critical role in protein biogenesis and quality control.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Congenital disorder of glycosylation (CDG) | Mutations in SEC61A2 impair protein translocation, leading to defective N-glycosylation and ER stress. | ClinVar, OMIM |
| Intellectual disability | SEC61A2 variants have been associated with neurodevelopmental phenotypes, possibly due to disrupted ER function. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 10.2 | Medium |
| Liver | 8.5 | Medium |
| Heart | 7.1 | Medium |
| Kidney | 9.8 | Medium |
| Testis | 12.4 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 11.3 | High expression |
| HeLa | 9.7 | Medium expression |
| K562 | 8.2 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | missense | <0.01% | Likely loss of function; start codon loss |
| c.215C>T (p.Pro72Leu) | missense | <0.01% | Uncertain significance; reported in CDG |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations in SEC61A2 are associated with congenital disorders of glycosylation due to impaired protein translocation.
Gain of Function (GOF)
No gain-of-function mutations have been reported for SEC61A2.
Dominant Negative (DN)
Dominant-negative effects have not been described for SEC61A2.
View complete mutation data：
Gene Ontology (GO)
| • protein transport | • ER to Golgi vesicle-mediated transport |
| • protein translocation | • endoplasmic reticulum membrane |
| • translocon complex |
Pathways
• Protein processing in endoplasmic reticulum
• ER-phagosome pathway
Protein Summary
SEC61A2 is a 476-amino acid protein that forms part of the heterotrimeric SEC61 translocon complex. It contains multiple transmembrane domains and is essential for the co-translational translocation of proteins into the ER. The protein interacts with SEC61B and SEC61G to form the functional channel.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SEC61A2 Knockout HEK293 Cell Line | EDJ-KQ15214 | Human | 55176 | Details Get a Quote |
| SEC61A2 Knockout A-549 Cell Line | EDJ-KQ45865 | Human | 55176 | Details Get a Quote |
| SEC61A2 Knockout HCT 116 Cell Line | EDJ-KQ45866 | Human | 55176 | Details Get a Quote |
| SEC61A2 Knockout HeLa Cell Line | EDJ-KQ45867 | Human | 55176 | Details Get a Quote |
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