SH3TC2

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]

Description

SH3 domain and tetratricopeptide repeats 2

Tissue specificity

Group enriched (brain, retina)

Subcell location

Nucleoplasm, Cytosol

Predicted location

Intracellular

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

5 (148923639 - 149063163)

Ensembl ID

ENSG00000169247  (ver. 103.38)

Orthologs

Mouse Sh3tc2: ENSMUSG00000045629

UniProt

Q8TF17

neXtProt

NX_Q8TF17

Human splice variants
Mouse splice variants

Protein structure