SH3TC2 SH3 domain and tetratricopeptide repeats 2
Gene ID: 79628, updated on 28-Oct-2024Gene type: protein coding
Also known as: MNMN; CMT4C
- See all available tests in GTR for this gene
- Go to complete Gene record for SH3TC2
- Go to Variation Viewer for SH3TC2 variants
Summary
This gene encodes a protein with two N-terminal Src homology 3 (SH3) domains and 10 tetratricopeptide repeat (TPR) motifs, and is a member of a small gene family. The gene product has been proposed to be an adapter or docking molecule. Mutations in this gene result in autosomal recessive Charcot-Marie-Tooth disease type 4C, a childhood-onset neurodegenerative disease characterized by demyelination of motor and sensory neurons. [provided by RefSeq, Jul 2008]
Associated conditions
Genomic context
- Location:
- 5q32
- Sequence:
- Chromosome: 5; NC_000005.10 (148982150..149063062, complement)
- Total number of exons:
- 17
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for SH3TC2 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
- SH3TC2 homepage - Leiden Muscular Dystrophy pages
- Variation ViewerRelated Variants
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