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

-  Comments and Description Text from UniProtKB
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
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
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  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     
Protein SequenceProtein Sequence    

-  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.