OS9 Gene (Endoplasmic Reticulum Lectin)
OS9, endoplasmic reticulum lectin: Gene function, expression, mutations, and associated diseases
Gene Information Card
| Symbol | OS9 |
|---|---|
| Full Name | OS9, endoplasmic reticulum lectin |
| Gene Type | protein-coding |
| Chromosomal Location | 12q24.13 |
| NCBI Gene ID | 10956 ncbi.nlm.nih.gov/gene/10956 |
| Ensembl ID | ENSG00000135404 |
| UniProt ID | Q13438 |
| OMIM ID | 604677 |
| HGNC ID | 8126 |
| Aliases | OS-9, ERLEC2, OS9-1, OS9-2 |
Description
The OS9 gene encodes an endoplasmic reticulum (ER) lectin that plays a critical role in ER-associated degradation (ERAD) by recognizing and targeting misfolded glycoproteins for retrotranslocation and proteasomal degradation. OS9 binds to mannose-trimmed N-glycans on luminal glycoproteins and interacts with the HRD1 ubiquitin ligase complex. It is involved in the quality control of secretory and membrane proteins.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (multiple types) | OS9 overexpression may promote tumor growth by modulating ER stress and hypoxia responses; altered expression linked to poor prognosis | COSMIC, PubMed |
| Hypoxia-related pathology | OS9 is induced by hypoxia and interacts with HIF-1α, influencing cellular adaptation to low oxygen | PubMed, UniProt |
| Neurodegenerative disorders | Dysregulation of ERAD components including OS9 may contribute to protein aggregation diseases | PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Adipose tissue | 12.5 | Medium |
| Brain | 8.2 | Low |
| Liver | 15.3 | Medium |
| Lung | 14.1 | Medium |
| Pancreas | 11.0 | Medium |
| Spleen | 9.8 | Low |
| Testis | 18.7 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 16.2 | High expression |
| HeLa | 13.5 | Medium expression |
| HepG2 | 14.8 | Medium expression |
| A549 | 12.1 | Medium expression |
| MCF7 | 10.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1072C>T (p.Arg358Trp) | Missense | <0.01% | Unknown; rare variant |
| c.1430G>A (p.Arg477His) | Missense | <0.01% | Unknown; rare variant |
| c.1666C>T (p.Arg556Cys) | Missense | <0.01% | Unknown; rare variant |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • endoplasmic reticulum (GO:0005783) |
| • endoplasmic reticulum membrane (GO:0005789) | • ER-associated ubiquitin-dependent protein catabolic process (GO:0030433) |
| • ERAD pathway (GO:0036503) | • mannose trimming involved in glycoprotein ERAD (GO:0036515) |
| • identical protein binding (GO:0042802) | • unfolded protein binding (GO:0051082) |
Pathways
• ERAD pathway (Reactome: R-HSA-9013424)
• Unfolded Protein Response (UPR) (Reactome: R-HSA-381119)
• Antigen processing: Cross-presentation (Reactome: R-HSA-1236974)
Protein Summary
OS9 is a 667-amino acid type I transmembrane protein localized to the endoplasmic reticulum. It contains a mannose-6-phosphate receptor homology domain that recognizes terminal mannose residues on N-glycans. OS9 functions as a lectin that targets misfolded glycoproteins for ERAD by delivering them to the HRD1 ubiquitin ligase complex. It is also involved in hypoxia signaling through interaction with HIF-1α. OS9 is ubiquitously expressed with highest levels in testis and liver.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| OS9 Knockout HEK293 Cell Line | EDJ-KQ2804 | Human | 10956 | Details Get a Quote |
| OS9 Knockout A-549 Cell Line | EDJ-KQ23739 | Human | 10956 | Details Get a Quote |
| OS9 Knockout HCT 116 Cell Line | EDJ-KQ23740 | Human | 10956 | Details Get a Quote |
| OS9 Knockout HeLa Cell Line | EDJ-KQ23741 | Human | 10956 | Details Get a Quote |
