Human Gene TRIM2 (ENST00000338700.10) Description and Page Index
  Description: Homo sapiens tripartite motif containing 2 (TRIM2), transcript variant 1, mRNA. (from RefSeq NM_015271)
RefSeq Summary (NM_015271): The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. The protein localizes to cytoplasmic filaments. It plays a neuroprotective role and functions as an E3-ubiquitin ligase in proteasome-mediated degradation of target proteins. Mutations in this gene can cause early-onset axonal neuropathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014].
Gencode Transcript: ENST00000338700.10
Gencode Gene: ENSG00000109654.15
Transcript (Including UTRs)
   Position: hg38 chr4:153,204,443-153,339,317 Size: 134,875 Total Exon Count: 12 Strand: +
Coding Region
   Position: hg38 chr4:153,204,531-153,334,966 Size: 130,436 Coding Exon Count: 12 

Page IndexSequence and LinksUniProtKB CommentsMalaCardsCTDRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesMethods
Data last updated at UCSC: 2019-09-04

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr4:153,204,443-153,339,317)mRNA (may differ from genome)Protein (771 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblEntrez GeneExonPrimerGeneCardsHGNC
HPRDLynxMGIneXtProtOMIMPubMed
ReactomeUniProtKB

-  Comments and Description Text from UniProtKB
  ID: TRIM2_HUMAN
DESCRIPTION: RecName: Full=Tripartite motif-containing protein 2; EC=6.3.2.-; AltName: Full=E3 ubiquitin-protein ligase TRIM2; AltName: Full=RING finger protein 86;
FUNCTION: UBE2D1-dependent E3 ubiquitin-protein ligase that mediates the ubiquitination of NEFL and of phosphorylated BCL2L11 (By similarity). Plays a neuroprotective function (By similarity). May play a role in neuronal rapid ischemic tolerance (By similarity).
PATHWAY: Protein modification; protein ubiquitination.
SUBUNIT: Interacts with myosin V; myosin V may not be a substrate for ubiquitination (By similarity). Interacts with NEFL (By similarity). Interacts with phosphorylated BCL2L11.
SUBCELLULAR LOCATION: Cytoplasm (By similarity).
DOMAIN: The interaction with myosin V is dependent upon its NHL repeats, which form a beta-propeller (NHL) domain containing six blades (By similarity).
PTM: RING-type zinc finger-dependent and UBE2D1-dependent autoubiquitination (By similarity).
SIMILARITY: Belongs to the TRIM/RBCC family.
SIMILARITY: Contains 1 B box-type zinc finger.
SIMILARITY: Contains 1 filamin repeat.
SIMILARITY: Contains 6 NHL repeats.
SIMILARITY: Contains 1 RING-type zinc finger.
SEQUENCE CAUTION: Sequence=BAA25443.1; Type=Erroneous initiation;

-  MalaCards Disease Associations
  MalaCards Gene Search: TRIM2
Diseases sorted by gene-association score: charcot-marie-tooth disease, type 2r* (1667), axonal neuropathy (17), charcot-marie-tooth disease, recessive intermediate d (12), spastic paraplegia 55, autosomal recessive (10), charcot-marie-tooth disease type 2a2 (10), charcot-marie-tooth disease, axonal, type 2p (9), charcot-marie-tooth disease, axonal, type 2t (8), charcot-marie-tooth disease, axonal, type 2h (8), charcot-marie-tooth disease, type 2b2 (8), charcot-marie-tooth disease, type 2b1 (8), amyotrophic lateral sclerosis type 5 (8), spastic paraplegia 46, autosomal recessive (7), charcot-marie-tooth disease intermediate type (7), charcot-marie-tooth disease, axonal, type 2s (5), charcot-marie-tooth disease (4)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 34.64 RPKM in Brain - Spinal cord (cervical c-1)
Total median expression: 520.86 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -34.2088-0.389 Picture PostScript Text
3' UTR -1016.004351-0.234 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR011042 - 6-blade_b-propeller_TolB-like
IPR003649 - Bbox_C
IPR001298 - Filamin
IPR017868 - Filamin/ABP280_repeat-like
IPR013783 - Ig-like_fold
IPR014756 - Ig_E-set
IPR001258 - NHL_repeat
IPR013017 - NHL_repeat_subgr
IPR000315 - Znf_B-box
IPR001841 - Znf_RING
IPR013083 - Znf_RING/FYVE/PHD
IPR017907 - Znf_RING_CS

Pfam Domains:
PF00630 - Filamin/ABP280 repeat
PF01436 - NHL repeat
PF00643 - B-box zinc finger

ModBase Predicted Comparative 3D Structure on Q9C040
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004842 ubiquitin-protein transferase activity
GO:0005515 protein binding
GO:0008270 zinc ion binding
GO:0016740 transferase activity
GO:0046872 metal ion binding

Biological Process:
GO:0016567 protein ubiquitination
GO:0043523 regulation of neuron apoptotic process

Cellular Component:
GO:0005622 intracellular
GO:0005737 cytoplasm


-  Descriptions from all associated GenBank mRNAs
  BC011052 - Homo sapiens tripartite motif-containing 2, mRNA (cDNA clone MGC:18215 IMAGE:4156234), complete cds.
AK308731 - Homo sapiens cDNA, FLJ98772.
AB011089 - Homo sapiens KIAA0517 mRNA for KIAA0517 protein.
AF220018 - Homo sapiens tripartite motif protein TRIM2 (TRIM2) mRNA, complete cds.
AB383896 - Synthetic construct DNA, clone: pF1KSDA0517, Homo sapiens TRIM2 gene for tripartite motif-containing protein 2, complete cds, without stop codon, in Flexi system.
AK000179 - Homo sapiens cDNA FLJ20172 fis, clone COL09807.
JD497381 - Sequence 478405 from Patent EP1572962.
BC025417 - Homo sapiens tripartite motif-containing 2, mRNA (cDNA clone IMAGE:4130451), with apparent retained intron.
JF432883 - Synthetic construct Homo sapiens clone IMAGE:100074206 tripartite motif-containing 2 (TRIM2) gene, encodes complete protein.
KJ893358 - Synthetic construct Homo sapiens clone ccsbBroadEn_02752 TRIM2 gene, encodes complete protein.
BC005016 - Homo sapiens, clone IMAGE:3636175, mRNA, partial cds.
AL110234 - Homo sapiens mRNA; cDNA DKFZp566D1824 (from clone DKFZp566D1824).
JD394500 - Sequence 375524 from Patent EP1572962.
JD348093 - Sequence 329117 from Patent EP1572962.
JD565581 - Sequence 546605 from Patent EP1572962.
JD079293 - Sequence 60317 from Patent EP1572962.
JD089906 - Sequence 70930 from Patent EP1572962.
JD521071 - Sequence 502095 from Patent EP1572962.
JD361032 - Sequence 342056 from Patent EP1572962.
JD506825 - Sequence 487849 from Patent EP1572962.
JD154676 - Sequence 135700 from Patent EP1572962.
JD257482 - Sequence 238506 from Patent EP1572962.
JD410282 - Sequence 391306 from Patent EP1572962.
AL110178 - Homo sapiens mRNA; cDNA DKFZp564K1062 (from clone DKFZp564K1062).
JD130437 - Sequence 111461 from Patent EP1572962.
JD168448 - Sequence 149472 from Patent EP1572962.
JD410502 - Sequence 391526 from Patent EP1572962.
JD538522 - Sequence 519546 from Patent EP1572962.
JD053193 - Sequence 34217 from Patent EP1572962.
JD502515 - Sequence 483539 from Patent EP1572962.
JD356836 - Sequence 337860 from Patent EP1572962.
JD393327 - Sequence 374351 from Patent EP1572962.
JD487217 - Sequence 468241 from Patent EP1572962.
JD111945 - Sequence 92969 from Patent EP1572962.
JD130053 - Sequence 111077 from Patent EP1572962.
JD450380 - Sequence 431404 from Patent EP1572962.
JD503818 - Sequence 484842 from Patent EP1572962.
JD146433 - Sequence 127457 from Patent EP1572962.
JD109943 - Sequence 90967 from Patent EP1572962.
BC019242 - Homo sapiens, clone IMAGE:3827868, mRNA.
JD500927 - Sequence 481951 from Patent EP1572962.
JD166521 - Sequence 147545 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q9C040 (Reactome details) participates in the following event(s):

R-HSA-877300 Interferon gamma signaling
R-HSA-913531 Interferon Signaling
R-HSA-1280215 Cytokine Signaling in Immune system
R-HSA-168256 Immune System

-  Other Names for This Gene
  Alternate Gene Symbols: KIAA0517, NM_015271, O60272, Q9BSI9, Q9C040, Q9UFZ1, RNF86, TRIM2_HUMAN, uc003inh.1, uc003inh.2, uc003inh.3, uc003inh.4
UCSC ID: uc003inh.4
RefSeq Accession: NM_015271
Protein: Q9C040 (aka TRIM2_HUMAN or TRM2_HUMAN)
CCDS: CCDS47147.1, CCDS3781.2

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.