Version 5.4
| 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 |
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| 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 | |||||||||||||||||||
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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 | ||||||||||||||||||