ANXA9 annexin A9
Gene ID: 8416, updated on 28-Oct-2024Gene type: protein coding
Also known as: ANX31
- See all available tests in GTR for this gene
- Go to complete Gene record for ANXA9
- Go to Variation Viewer for ANXA9 variants
Summary
The annexins are a family of calcium-dependent phospholipid-binding proteins. Members of the annexin family contain 4 internal repeat domains, each of which includes a type II calcium-binding site. The calcium-binding sites are required for annexins to aggregate and cooperatively bind anionic phospholipids and extracellular matrix proteins. This gene encodes a divergent member of the annexin protein family in which all four homologous type II calcium-binding sites in the conserved tetrad core contain amino acid substitutions that ablate their function. However, structural analysis suggests that the conserved putative ion channel formed by the tetrad core is intact. [provided by RefSeq, Jul 2008]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Discovery and refinement of loci associated with lipid levels. GeneReviews: Not available | |
| Genome-wide association study identifies a new melanoma susceptibility locus at 1q21.3. GeneReviews: Not available | |
| Genome-wide association study identifies genetic risk underlying primary rhegmatogenous retinal detachment. GeneReviews: Not available | |
| Genome-wide association study identifies novel loci predisposing to cutaneous melanoma. GeneReviews: Not available | |
| New loci associated with kidney function and chronic kidney disease. GeneReviews: Not available |
Genomic context
- Location:
- 1q21.3
- Sequence:
- Chromosome: 1; NC_000001.11 (150977306..150995634)
- Total number of exons:
- 17
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for ANXA9 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
- Variation ViewerRelated Variants
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