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].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| SH3 domain and tetratricopeptide repeats 2 | MIM:608206 | Ensembl:ENSG00000169247 | HGNC:HGNC:29427 | PA134951912 | 5q32 |
GO terms in SH3TC2
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| BP | IEA | GO:0032287 | peripheral nervous system myelin maintenance |
| BP | IEA | GO:0033157 | regulation of intracellular protein transport |
| BP | IEA | GO:1901184 | regulation of ERBB signaling pathway |
| CC | IEA | GO:0005886 | plasma membrane |
| CC | IEA | GO:0055037 | recycling endosome |
Gene expression in normal tissue: SH3TC2
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in SH3TC2
| Database | Pathway ID | Pathway Des. |
|---|
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in SH3TC2
CLASSFICATION
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