Homo sapiens Protein: SH3TC2 | |||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Summary | |||||||||||||||||||
InnateDB Protein | IDBP-483351.4 | ||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||
Gene Symbol | SH3TC2 | ||||||||||||||||||
Protein Name | SH3 domain and tetratricopeptide repeats 2 | ||||||||||||||||||
Synonyms | |||||||||||||||||||
Species | Homo sapiens | ||||||||||||||||||
Ensembl Protein | ENSP00000423660 | ||||||||||||||||||
InnateDB Gene | IDBG-52739 (SH3TC2) | ||||||||||||||||||
Protein Structure | |||||||||||||||||||
UniProt Annotation | |||||||||||||||||||
Function | |||||||||||||||||||
Subcellular Localization | |||||||||||||||||||
Disease Associations | Charcot-Marie-Tooth disease 4C (CMT4C) [MIM:601596]: A recessive demyelinating form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot- Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Demyelinating neuropathies are characterized by severely reduced nerve conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow feet. By convention autosomal recessive forms of demyelinating Charcot-Marie-Tooth disease are designated CMT4. CMT4C is characterized by onset in childhood, early-onset scoliosis and a distinct Schwann cell pathology. {ECO:0000269PubMed:14574644}. Note=The disease is caused by mutations affecting the gene represented in this entry.Mononeuropathy of the median nerve mild (MNMN) [MIM:613353]: A disease characterized by median nerve mononeuropathy at the wrist. The clinical presentation ranges from a mild phenotype, consistent with carpal tunnel syndrome, to a severe median nerve mononeuropathy at the wrist associated with evidence of a more widespread axonal polyneuropathy. The latter phenotype is similar to that of patients with hereditary neuropathy with liability to pressure palsies. {ECO:0000269PubMed:20220177}. Note=The disease is caused by mutations affecting the gene represented in this entry. | ||||||||||||||||||
Tissue Specificity | Strongly expressed in brain and spinal cord. Expressed at equal level in spinal cord and sciatic nerve. Weakly expressed in striated muscle. {ECO:0000269PubMed:14574644}. | ||||||||||||||||||
Comments | |||||||||||||||||||
Interactions | |||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.
|
||||||||||||||||||
Gene Ontology | |||||||||||||||||||
Molecular Function |
|
||||||||||||||||||
Biological Process |
|
||||||||||||||||||
Cellular Component |
|
||||||||||||||||||
Protein Structure and Domains | |||||||||||||||||||
PDB ID | |||||||||||||||||||
InterPro |
IPR001440
Tetratricopeptide TPR1 IPR001452 SH3 domain IPR019734 Tetratricopeptide repeat |
||||||||||||||||||
PFAM |
PF00515
PF00018 PF14604 PF13174 PF13176 PF13181 |
||||||||||||||||||
PRINTS |
PR00452
|
||||||||||||||||||
PIRSF | |||||||||||||||||||
SMART |
SM00326
SM00028 |
||||||||||||||||||
TIGRFAMs | |||||||||||||||||||
Post-translational Modifications | |||||||||||||||||||
Modification | |||||||||||||||||||
Cross-References | |||||||||||||||||||
SwissProt | Q8TF17 | ||||||||||||||||||
PhosphoSite | PhosphoSite-Q8TF17 | ||||||||||||||||||
TrEMBL | B3KXB9 | ||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||
Entrez Gene | 79628 | ||||||||||||||||||
UniGene | Hs.692108 | ||||||||||||||||||
RefSeq | NP_078853 | ||||||||||||||||||
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 | ||||||||||||||||||