OS9 OS9 endoplasmic reticulum lectin
Gene ID: 10956, updated on 17-Jun-2024Gene type: protein coding
Also known as: OS-9; ERLEC2
- See all available tests in GTR for this gene
- Go to complete Gene record for OS9
- Go to Variation Viewer for OS9 variants
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 transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
Associated conditions
See all available tests in GTR for this gene
Description | Tests |
---|---|
Genetics of rheumatoid arthritis contributes to biology and drug discovery. GeneReviews: Not available |
Genomic context
- Location:
- 12q13.3-q14.1
- Sequence:
- Chromosome: 12; NC_000012.12 (57694132..57721557)
- Total number of exons:
- 15
Variation
Resource | Links for this gene |
---|---|
ClinVar | Variants reported to ClinVar |
dbVar | Studies and variants |
SNP | Variation Viewer for OS9 variants |
Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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