Homo sapiens Gene: SH3TC2
Summary
InnateDB Gene IDBG-52739.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol SH3TC2
Gene Name SH3 domain and tetratricopeptide repeats 2
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000169247
Encoded Proteins
SH3 domain and tetratricopeptide repeats 2
SH3 domain and tetratricopeptide repeats 2
SH3 domain and tetratricopeptide repeats 2
SH3 domain and tetratricopeptide repeats 2
SH3 domain and tetratricopeptide repeats 2
SH3 domain and tetratricopeptide repeats 2
SH3 domain and tetratricopeptide repeats 2
SH3 domain and tetratricopeptide repeats 2
SH3 domain and tetratricopeptide repeats 2
Protein Structure
Entrez Gene
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 5:148923639-149063163
Strand Reverse strand
Band q32
Transcripts
ENST00000323829 ENSP00000313025
ENST00000504690 ENSP00000425627
ENST00000510350
ENST00000515229
ENST00000504517 ENSP00000421779
ENST00000502274 ENSP00000421092
ENST00000510779 ENSP00000423940
ENST00000515425 ENSP00000423660
ENST00000512049 ENSP00000421860
ENST00000513604 ENSP00000423111
ENST00000511307 ENSP00000421420
ENST00000513340
ENST00000503071
ENST00000511949
ENST00000504091
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.
Experimentally validated
Total 1 [view]
Protein-Protein 0
Protein-DNA 0
Protein-RNA 0
DNA-DNA 1 [view]
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
Biological Process
GO:0008219 cell death
GO:0022011 myelination in peripheral nervous system
GO:0032287 peripheral nervous system myelin maintenance
GO:0033157 regulation of intracellular protein transport
GO:1901184 regulation of ERBB signaling pathway
Cellular Component
GO:0005886 plasma membrane
GO:0031410 cytoplasmic vesicle
GO:0055037 recycling endosome
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Cross-References
SwissProt Q8TF17
TrEMBL B3KXB9 D6RA65 D6RFX2 E9PDF1 H0Y8Q9
UniProt Splice Variant
Entrez Gene 79628
UniGene Hs.692108
RefSeq NM_024577
HUGO HGNC:29427
OMIM 608206
CCDS CCDS4293
HPRD 10496
IMGT
EMBL AB075865 AC011364 AC116312 AF370410 AK023667 AK124854 AK127050 AK127248 AY341075 BC113879 BC114486 CH471062
GenPept AAI13880 AAI14487 AAQ15246 AAR03497 BAB14631 BAB85571 BAC86899 BAG54107 BAG54431 EAW61796
ImmGen SH3TC2 (murine)
RNA Seq Atlas 79628