SH3TC2


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].

NameOMIM IDEnsembl IDHGNC IDPHARMGKB IDMap Location
SH3 domain and tetratricopeptide repeats 2MIM:608206Ensembl:ENSG00000169247HGNC:HGNC:29427PA1349519125q32

GO terms in SH3TC2


Term TypeEvidence TypeGO Term IDGO Des.
BPIEAGO:0032287peripheral nervous system myelin maintenance
BPIEAGO:0033157regulation of intracellular protein transport
BPIEAGO:1901184regulation of ERBB signaling pathway
CCIEAGO:0005886plasma membrane
CCIEAGO:0055037recycling endosome

Gene expression in normal tissue: SH3TC2

Gene-model tissue-cancer distribution: Bubble Plot

Gene-drug pathway distribution

Pathways in SH3TC2


DatabasePathway IDPathway Des.

Gene-Drug: Aster Plot


Drug IDDrug NameModel Num.
iGMDRD399Selumetinib2
iGMDRD353PD03259012

Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in SH3TC2

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