OS9 (OS9 endoplasmic reticulum lectin)
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Gene
Gene information from NCBI Gene database.
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| Entrez ID | 10956 |
| Gene name | OS9 endoplasmic reticulum lectin |
| Gene symbol | OS9 |
| Synonyms (NCBI Gene) |
ERLEC2OS-9
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| Chromosome | 12 |
| Chromosome location | 12q13.3-q14.1 |
| Summary | This gene encodes a protein that is highly expressed in osteosarcomas. This protein binds to the hypoxia-inducible factor 1 (HIF-1), a key regulator of the hypoxic response and angiogenesis, and promotes the degradation of one of its subunits. Alternate t |
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miRNA
miRNA information provided by mirtarbase database.
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Gene ontology (GO)
Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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Other IDs
Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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Protein
Protein information from UniProt database.
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UniProt ID
Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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Q13438 | ||||||||||
| Protein name | Protein OS-9 (Amplified in osteosarcoma 9) | ||||||||||
| Protein function | Lectin component of the HRD1 complex, which functions in endoplasmic reticulum (ER) quality control and ER-associated degradation (ERAD) (PubMed:18264092, PubMed:18417469, PubMed:19084021, PubMed:19346256, PubMed:21172656, PubMed:24899641). Spec | ||||||||||
| PDB | 3AIH | ||||||||||
| Family and domains |
Pfam
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| Tissue specificity | TISSUE SPECIFICITY: Ubiquitously expressed (PubMed:8634085). Found as well in all tumor cell lines analyzed, amplified in sarcomas (PubMed:8634085). Highly expressed in osteosarcoma SJSA-1 and rhabdomyosarcoma Rh30 cell lines (PubMed:8634085). {ECO:000026 | ||||||||||
| Sequence |
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| Sequence length | 667 | ||||||||||
| Interactions | View interactions | ||||||||||
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Pathways
Pathway information has different metabolic/signaling pathways associated with genes.
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Associated diseases
Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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Evidence Score:
★☆☆☆☆ Gene-disease association found in Text Mining only
★★☆☆☆ Found in Text Mining and Unknown/Other Associations
★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources
★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
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Related Genes
Genes most often co-reported with OS9 across shared curated disease and pathway associations.
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Diseases Linked via Similar Genes
Diseases curated for genes most similar to OS9 (see Related Genes above), that are NOT already directly curated for OS9 itself -- a lead worth checking, not a confirmed association.
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