DRP2 dystrophin related protein 2
Gene ID: 1821, updated on 17-Sep-2024Gene type: protein coding
Also known as: DRP-2
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- Go to complete Gene record for DRP2
- Go to Variation Viewer for DRP2 variants
Summary
Members of the dystrophin family of proteins perform a critical role in the maintenance of membrane-associated complexes at points of intercellular contact in vertebrate cells. The protein encoded by this gene is predicted to resemble certain short C-terminal isoforms of dystrophin and dystrophin-related protein 1 (DRP1 or utrophin). DRP2 is expressed principally in the brain and spinal cord. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2010]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Charcot-Marie-Tooth disease MedGen: C0007959GeneReviews: Charcot-Marie-Tooth Hereditary Neuropathy Overview | See labs |
Genomic context
- Location:
- Xq22.1
- Sequence:
- Chromosome: X; NC_000023.11 (101219786..101264502)
- Total number of exons:
- 24
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for DRP2 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- DRP2 @ LOVD
- 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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