SEC62: Translocation and Cancer-Associated Gene
SEC62 (SEC61 Translocon Subunit Gamma) - A key regulator of ER protein translocation and calcium homeostasis, implicated in cancer and developmental disorders.
Gene Information Card
| Symbol | SEC62 |
|---|---|
| Full Name | SEC61 Translocon Subunit Gamma |
| Gene Type | Protein coding |
| Chromosomal Location | 3q26.2 |
| NCBI Gene ID | 7095 ncbi.nlm.nih.gov/gene/7095 |
| Ensembl ID | ENSG00000114771 |
| UniProt ID | Q99442 |
| OMIM ID | 602173 |
| HGNC ID | 10782 |
| Aliases | Dtrp1, TLOC1, HTP1 |
Description
SEC62 encodes a subunit of the SEC61 translocon complex, which mediates translocation of nascent polypeptides into the endoplasmic reticulum (ER). It also functions in calcium homeostasis and ER stress response. Overexpression is linked to various cancers, while mutations cause autosomal dominant tubulointerstitial kidney disease (ADTKD).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Autosomal dominant tubulointerstitial kidney disease (ADTKD) | Loss-of-function mutations impair ER protein translocation and calcium signaling, leading to tubular cell stress and fibrosis. | ClinVar, OMIM |
| Non-small cell lung cancer | SEC62 overexpression enhances ER stress tolerance and promotes tumor cell survival. | COSMIC, PubMed |
| Prostate cancer | SEC62 upregulation correlates with poor prognosis and metastasis via altered calcium homeostasis. | COSMIC, PubMed |
| Hepatocellular carcinoma | SEC62 overexpression drives proliferation and resistance to apoptosis. | COSMIC, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 10.8 | Medium |
| Lung | 9.2 | Medium |
| Prostate | 8.7 | Medium |
| Brain | 6.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 14.1 | Hepatocellular carcinoma cell line |
| A549 | 11.3 | Lung adenocarcinoma cell line |
| PC3 | 10.5 | Prostate cancer cell line |
| HEK293 | 9.8 | Embryonic kidney cell line |
| MCF7 | 7.2 | Breast cancer cell line |
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, likely loss of function |
| c.325C>T (p.Arg109*) | Nonsense | Rare | Premature stop, loss of function |
| c.494G>A (p.Arg165Gln) | Missense | Rare | Impaired ER translocation |
| c.698_699del (p.Leu233fs) | Frameshift | Rare | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Mutations causing premature stop, frameshift, or start codon loss lead to reduced SEC62 protein levels or impaired translocon function, associated with ADTKD.
Gain of Function (GOF)
Overexpression (not mutation) in cancers enhances ER stress tolerance and cell survival.
Dominant Negative (DN)
Not reported for SEC62.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Protein processing in endoplasmic reticulum (KEGG: hsa04141)
• Unfolded protein response (Reactome: R-HSA-381119)
Protein Summary
SEC62 is a 40 kDa transmembrane protein localized to the ER membrane. It forms part of the SEC61 translocon complex, facilitating the translocation of secretory and membrane proteins. Additionally, it regulates calcium efflux from the ER and modulates the unfolded protein response. Overexpression in cancers promotes survival under ER stress, while loss-of-function mutations cause kidney disease.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SEC62 Knockout HEK293 Cell Line | EDJ-KQ50688 | Human | 7095 | Details Get a Quote |
| SEC62 Knockout HeLa Cell Line | EDJ-KQ54664 | Human | 7095 | Details Get a Quote |
| SEC62 Knockout A-549 Cell Line | EDJ-KQ63147 | Human | 7095 | Details Get a Quote |
| SEC62 Knockout HCT 116 Cell Line | EDJ-KQ71621 | Human | 7095 | Details Get a Quote |
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