TPM2 tropomyosin 2
Gene ID: 7169, updated on 5-Mar-2024Gene type: protein coding
Also known as: DA1; DA2B; NEM4; TMSB; AMCD1; DA2B4; CMYP23; HEL-S-273
- See all available tests in GTR for this gene
- Go to complete Gene record for TPM2
- Go to Variation Viewer for TPM2 variants
Summary
This gene encodes beta-tropomyosin, a member of the actin filament binding protein family, and mainly expressed in slow, type 1 muscle fibers. Mutations in this gene can alter the expression of other sarcomeric tropomyosin proteins, and cause cap disease, nemaline myopathy and distal arthrogryposis syndromes. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2009]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Arthrogryposis, distal, type 1A | See labs |
| Congenital myopathy 23 | See labs |
| Congenital myopathy with fiber type disproportion MedGen: C0546264GeneReviews: Not available | See labs |
Genomic context
- Location:
- 9p13.3
- Sequence:
- Chromosome: 9; NC_000009.12 (35681993..35690056, complement)
- Total number of exons:
- 11
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for TPM2 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
- RefSeqGeneLink to Nucleotide RefSeqGenes
- TPM2 homepage - Leiden Muscular Dystrophy pages
- Variation ViewerRelated Variants
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