Homo sapiens Gene: SH3TC2 | |||||||||||||||||||
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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
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Protein Structure | |||||||||||||||||||
Useful resources | Stemformatics EHFPI ImmGen | ||||||||||||||||||
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] |
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Gene Information | |||||||||||||||||||
Type | Protein coding | ||||||||||||||||||
Genomic Location | Chromosome 5:148923639-149063163 | ||||||||||||||||||
Strand | Reverse strand | ||||||||||||||||||
Band | q32 | ||||||||||||||||||
Transcripts | |||||||||||||||||||
Interactions | |||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.
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Gene Ontology | |||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Orthologs | |||||||||||||||||||
Species
Mus musculus
Bos taurus
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Gene ID
Gene Order
Not yet available
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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 | |||||||||||||||||||
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 | ||||||||||||||||||
RNA Seq Atlas | 79628 | ||||||||||||||||||