ACTN2 actinin alpha 2
Gene ID: 88, updated on 31-Mar-2024Gene type: protein coding
Also known as: MPD6; CMH23; CMYP8; CMD1AA; MYOCOZ
- See all available tests in GTR for this gene
- Go to complete Gene record for ACTN2
- Go to Variation Viewer for ACTN2 variants
Summary
Alpha actinins belong to the spectrin gene superfamily which represents a diverse group of cytoskeletal proteins, including the alpha and beta spectrins and dystrophins. Alpha actinin is an actin-binding protein with multiple roles in different cell types. In nonmuscle cells, the cytoskeletal isoform is found along microfilament bundles and adherens-type junctions, where it is involved in binding actin to the membrane. In contrast, skeletal, cardiac, and smooth muscle isoforms are localized to the Z-disc and analogous dense bodies, where they help anchor the myofibrillar actin filaments. This gene encodes a muscle-specific, alpha actinin isoform that is expressed in both skeletal and cardiac muscles. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2013]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Dilated cardiomyopathy 1AA | See labs |
| Genome-wide association study of chronic periodontitis in a general German population. GeneReviews: Not available | |
| Myopathy, congenital, with structured cores and z-line abnormalities | See labs |
| Myopathy, distal, 6, adult-onset, autosomal dominant | See labs |
| Primary dilated cardiomyopathy MedGen: C0007193GeneReviews: Dilated Cardiomyopathy Overview | See labs |
| Primary familial hypertrophic cardiomyopathy MedGen: C0949658GeneReviews: Hypertrophic Cardiomyopathy Overview | See labs |
Genomic context
- Location:
- 1q43
- Sequence:
- Chromosome: 1; NC_000001.11 (236686499..236764631)
- Total number of exons:
- 23
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for ACTN2 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ACTN2 database
- 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
IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.