ANXA11 annexin A11
Gene ID: 311, updated on 11-Apr-2024Gene type: protein coding
Also known as: ALS23; ANX11; CAP50; CAP-50; IBMWMA
- See all available tests in GTR for this gene
- Go to complete Gene record for ANXA11
- Go to Variation Viewer for ANXA11 variants
Summary
This gene encodes a member of the annexin family, a group of calcium-dependent phospholipid-binding proteins. Annexins have unique N-terminal domains and conserved C-terminal domains, which contain calcium-dependent phospholipid-binding sites. The encoded protein is a 56-kD antigen recognized by sera from patients with various autoimmune diseases. Several transcript variants encoding two different isoforms have been identified. [provided by RefSeq, Dec 2015]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Amyotrophic lateral sclerosis type 23 | See labs |
| Genome-wide association analysis of blood biomarkers in chronic obstructive pulmonary disease. GeneReviews: Not available | |
| Genome-wide association analysis reveals 12q13.3-q14.1 as new risk locus for sarcoidosis. GeneReviews: Not available | |
| Inclusion body myopathy and brain white matter abnormalities | See labs |
Genomic context
- Location:
- 10q22.3
- Sequence:
- Chromosome: 10; NC_000010.11 (80150889..80205808, complement)
- Total number of exons:
- 21
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for ANXA11 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- 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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