Homo sapiens Protein: TRIM2 | |||||||||||||||||||||||
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Summary | |||||||||||||||||||||||
InnateDB Protein | IDBP-378759.4 | ||||||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||||||
Gene Symbol | TRIM2 | ||||||||||||||||||||||
Protein Name | tripartite motif containing 2 | ||||||||||||||||||||||
Synonyms | CMT2R; RNF86; | ||||||||||||||||||||||
Species | Homo sapiens | ||||||||||||||||||||||
Ensembl Protein | ENSP00000415812 | ||||||||||||||||||||||
InnateDB Gene | IDBG-41616 (TRIM2) | ||||||||||||||||||||||
Protein Structure |
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UniProt Annotation | |||||||||||||||||||||||
Function | UBE2D1-dependent E3 ubiquitin-protein ligase that mediates the ubiquitination of NEFL and of phosphorylated BCL2L11. Plays a neuroprotective function. May play a role in neuronal rapid ischemic tolerance. {ECO:0000250}. | ||||||||||||||||||||||
Subcellular Localization | Cytoplasm {ECO:0000250}. | ||||||||||||||||||||||
Disease Associations | Charcot-Marie-Tooth disease 2R (CMT2R) [MIM:615490]: An axonal 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). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy. Nerve conduction velocities are normal or slightly reduced. {ECO:0000269PubMed:23562820}. Note=The disease is caused by mutations affecting the gene represented in this entry. | ||||||||||||||||||||||
Tissue Specificity | |||||||||||||||||||||||
Comments | |||||||||||||||||||||||
Interactions | |||||||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 24 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.
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Gene Ontology | |||||||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Protein Structure and Domains | |||||||||||||||||||||||
PDB ID | |||||||||||||||||||||||
InterPro |
IPR000315
Zinc finger, B-box IPR001258 NHL repeat IPR001298 Filamin/ABP280 repeat IPR001841 Zinc finger, RING-type IPR003649 B-box, C-terminal IPR013017 NHL repeat, subgroup IPR014756 Immunoglobulin E-set IPR017868 Filamin/ABP280 repeat-like IPR018957 Zinc finger, C3HC4 RING-type |
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PFAM |
PF00643
PF01436 PF13639 PF14634 PF00630 PF00097 |
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PRINTS | |||||||||||||||||||||||
PIRSF | |||||||||||||||||||||||
SMART |
SM00336
SM00557 SM00184 SM00502 |
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TIGRFAMs | |||||||||||||||||||||||
Post-translational Modifications | |||||||||||||||||||||||
Modification | |||||||||||||||||||||||
Cross-References | |||||||||||||||||||||||
SwissProt | Q9C040 | ||||||||||||||||||||||
PhosphoSite | PhosphoSite-Q9C040 | ||||||||||||||||||||||
TrEMBL | C9JVI3 | ||||||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||||||
Entrez Gene | 23321 | ||||||||||||||||||||||
UniGene | Hs.667431 | ||||||||||||||||||||||
RefSeq | NP_001123539 | ||||||||||||||||||||||
HUGO | HGNC:15974 | ||||||||||||||||||||||
OMIM | 614141 | ||||||||||||||||||||||
CCDS | CCDS47147 | ||||||||||||||||||||||
HPRD | 10279 | ||||||||||||||||||||||
IMGT | |||||||||||||||||||||||
EMBL | AB011089 AC013477 AC114791 AF220018 AL110234 BC005016 BC011052 CH471056 | ||||||||||||||||||||||
GenPept | AAG53472 AAH05016 AAH11052 BAA25443 CAB53687 EAX04960 EAX04962 | ||||||||||||||||||||||