ANK3 ankyrin 3
Gene ID: 288, updated on 5-Jun-2024Gene type: protein coding
Also known as: MRT37; ANKYRIN-G
- See all available tests in GTR for this gene
- Go to complete Gene record for ANK3
- Go to Variation Viewer for ANK3 variants
Summary
Ankyrins are a family of proteins that are believed to link the integral membrane proteins to the underlying spectrin-actin cytoskeleton and play key roles in activities such as cell motility, activation, proliferation, contact, and the maintenance of specialized membrane domains. Multiple isoforms of ankyrin with different affinities for various target proteins are expressed in a tissue-specific, developmentally regulated manner. Most ankyrins are typically composed of three structural domains: an amino-terminal domain containing multiple ankyrin repeats; a central region with a highly conserved spectrin binding domain; and a carboxy-terminal regulatory domain which is the least conserved and subject to variation. Ankyrin 3 is an immunologically distinct gene product from ankyrins 1 and 2, and was originally found at the axonal initial segment and nodes of Ranvier of neurons in the central and peripheral nervous systems. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Feb 2011]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A genome-wide association meta-analysis of plasma Aβ peptides concentrations in the elderly. GeneReviews: Not available | |
| Collaborative genome-wide association analysis supports a role for ANK3 and CACNA1C in bipolar disorder. GeneReviews: Not available | |
| Gene variants associated with schizophrenia in a Norwegian genome-wide study are replicated in a large European cohort. GeneReviews: Not available | |
| Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations. GeneReviews: Not available | |
| Genome-wide association study identifies five new schizophrenia loci. GeneReviews: Not available | |
| Genome-wide association study in a Swedish population yields support for greater CNV and MHC involvement in schizophrenia compared with bipolar disorder. GeneReviews: Not available | |
| Genome-wide association study meta-analysis of European and Asian-ancestry samples identifies three novel loci associated with bipolar disorder. GeneReviews: Not available | |
| Genome-wide association study reveals two new risk loci for bipolar disorder. GeneReviews: Not available | |
| Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis. GeneReviews: Not available | |
| Intellectual disability-hypotonia-spasticity-sleep disorder syndrome | See labs |
| Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4. GeneReviews: Not available | |
| Meta-analysis of genome-wide association data of bipolar disorder and major depressive disorder. GeneReviews: Not available |
Genomic context
- Location:
- 10q21.2
- Sequence:
- Chromosome: 10; NC_000010.11 (60026298..60733528, complement)
- Total number of exons:
- 50
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for ANK3 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ANK3 @ LOVD
- 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
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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