SH3TC2 Gene Summary [Human]
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]
Details
| Type | Nonsense Mediated Decay |
| Official Symbol | SH3TC2 |
| Official Name | SH3 domain and tetratricopeptide repeats 2 [Source:HGNC Symbol;Acc:HGNC:29427] |
| Ensembl ID | ENSG00000169247 |
| Bio databases IDs | |
| Aliases | SH3 domain and tetratricopeptide repeats 2 |
| Synonyms | CMT4C, D430044G18Rik, LOC102556165, MNMN, RGD1309038, SH3 domain and tetratricopeptide repeats 2 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human SH3TC2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Tetratricopeptide repeats
- protein binding
- tetratricopeptide repeat
- Src Homology 3 domain superfamily
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
binds
- CUL3
- miR-139-5p (miRNAs w/seed CUACAGU)
disease
- Charcot-Marie-Tooth disease type 4
- breast carcinoma
- Charcot-Marie-Tooth disease type 4c
- Charcot-Marie-Tooth disease
- mild mononeuropathy of the median nerve
- Klinefelter syndrome
- hereditary disorder
- familial motor neuron disease
- psoriasis
- autosomal recessive demyelinating hereditary motor and sensory neuropathy
role in cell
- enlargement
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- Plasma Membrane
- recycling endosomes
- cytoplasmic vesicles
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human SH3TC2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- peripheral nervous system myelin maintenance
- regulation of intracellular protein transport
Cellular Component
Where in the cell the gene product is active
- cytoplasmic vesicle
- plasma membrane