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Aliases for TRIM2 Gene

Aliases for TRIM2 Gene

  • Tripartite Motif Containing 2 2 3 5
  • RING-Type E3 Ubiquitin Transferase TRIM2 3 4
  • E3 Ubiquitin-Protein Ligase TRIM2 3 4
  • RING Finger Protein 86 3 4
  • RNF86 3 4
  • Tripartite Motif-Containing Protein 2 3
  • Tripartite Motif Protein TRIM2 3
  • Tripartite Motif-Containing 2 2
  • EC 2.3.2.27 4
  • KIAA0517 4
  • CMT2R 3

External Ids for TRIM2 Gene

Previous GeneCards Identifiers for TRIM2 Gene

  • GC04P154972
  • GC04P154462
  • GC04P154703
  • GC04P154483
  • GC04P154345
  • GC04P154073
  • GC04P149803

Summaries for TRIM2 Gene

Entrez Gene Summary for TRIM2 Gene

  • 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]

GeneCards Summary for TRIM2 Gene

TRIM2 (Tripartite Motif Containing 2) is a Protein Coding gene. Diseases associated with TRIM2 include Charcot-Marie-Tooth Disease, Type 2R and Axonal Neuropathy. Among its related pathways are Interferon gamma signaling and Innate Immune System. GO annotations related to this gene include ligase activity and ubiquitin-protein transferase activity. An important paralog of this gene is TRIM3.

UniProtKB/Swiss-Prot for TRIM2 Gene

  • 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.

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TRIM2 Gene

Genomics for TRIM2 Gene

Regulatory Elements for TRIM2 Gene

Enhancers for TRIM2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH04G153248 1.7 FANTOM5 Ensembl ENCODE dbSUPER 31.5 +97.1 97081 3.0 SIN3A BMI1 GLIS2 EGR1 SCRT2 RELB EGR2 SP3 ZNF398 SP1 TRIM2 MND1 TMEM131L TIGD4 GC04M153247 LOC105377496
GH04G153232 1.7 FANTOM5 Ensembl ENCODE dbSUPER 24.2 +81.6 81642 2.4 PKNOX1 SIN3A GLI4 BMI1 RAD21 YY1 SCRT2 FOS ZNF391 ZNF362 TRIM2 RNU6-1196P ENSG00000201786 LOC105377496 GC04M153170
GH04G153220 1.3 ENCODE dbSUPER 28.9 +69.1 69068 6.4 FOXA2 SIN3A FEZF1 DMAP1 ZNF2 YY1 ZNF548 FOS ZNF263 SP3 TRIM2 LINC02486 RNU6-1196P ENSG00000201786 MND1 TIGD4 RNF175 GC04M153170 LOC105377496
GH04G153202 1.5 Ensembl ENCODE dbSUPER 19 +54.1 54065 7.3 PKNOX1 FOXA2 ARNT FEZF1 ZNF121 GLIS2 FOS ZNF263 SP5 KAT8 TRIM2 RNU6-1196P ENSG00000201786 GC04M153170 LOC105377496
GH04G153114 1.3 FANTOM5 Ensembl ENCODE 18.6 -36.3 -36273 3.7 CTCF JUN FOSL1 JUND ZNF585B HMBOX1 FOS MAFK TCF7L2 SPI1 TRIM2 TMEM131L TIGD4 GC04P153070 GC04P153071
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TRIM2 on UCSC Golden Path with GeneCards custom track

Promoters for TRIM2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000174957 858 1601 TBP FEZF1 GLI4 GLIS2 ZSCAN5C FOS EGR2 CEBPB RAD51 ZNF341

Genomic Location for TRIM2 Gene

Chromosome:
4
Start:
153,152,342 bp from pter
End:
153,339,322 bp from pter
Size:
186,981 bases
Orientation:
Plus strand

Genomic View for TRIM2 Gene

Genes around TRIM2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TRIM2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TRIM2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TRIM2 Gene

Proteins for TRIM2 Gene

  • Protein details for TRIM2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9C040-TRIM2_HUMAN
    Recommended name:
    Tripartite motif-containing protein 2
    Protein Accession:
    Q9C040
    Secondary Accessions:
    • D3DP09
    • O60272
    • Q9BSI9
    • Q9UFZ1

    Protein attributes for TRIM2 Gene

    Size:
    744 amino acids
    Molecular mass:
    81530 Da
    Quaternary structure:
    • Interacts with myosin V; myosin V may not be a substrate for ubiquitination (By similarity). Interacts with NEFL (By similarity). Interacts with phosphorylated BCL2L11.
    SequenceCaution:
    • Sequence=AAG53472.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAA25443.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for TRIM2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TRIM2 Gene

Post-translational modifications for TRIM2 Gene

  • RING-type zinc finger-dependent and UBE2D1-dependent autoubiquitination.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for TRIM2 Gene

Domains & Families for TRIM2 Gene

Gene Families for TRIM2 Gene

Suggested Antigen Peptide Sequences for TRIM2 Gene

Graphical View of Domain Structure for InterPro Entry

Q9C040

UniProtKB/Swiss-Prot:

TRIM2_HUMAN :
  • The interaction with myosin V is dependent upon its NHL repeats, which form a beta-propeller (NHL) domain containing six blades.
  • Belongs to the TRIM/RBCC family.
Domain:
  • The interaction with myosin V is dependent upon its NHL repeats, which form a beta-propeller (NHL) domain containing six blades.
Family:
  • Belongs to the TRIM/RBCC family.
genes like me logo Genes that share domains with TRIM2: view

Function for TRIM2 Gene

Molecular function for TRIM2 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L-cysteine + N(6)-ubiquitinyl-[acceptor protein]-L-lysine.
UniProtKB/Swiss-Prot 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.

Enzyme Numbers (IUBMB) for TRIM2 Gene

Gene Ontology (GO) - Molecular Function for TRIM2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004842 ubiquitin-protein transferase activity ISS --
GO:0005515 protein binding IPI 21478148
GO:0008270 zinc ion binding IEA,NAS 11331580
GO:0016740 transferase activity IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with TRIM2: view
genes like me logo Genes that share phenotypes with TRIM2: view

Human Phenotype Ontology for TRIM2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for TRIM2 Gene

Localization for TRIM2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TRIM2 Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TRIM2 gene
Compartment Confidence
cytoskeleton 3
nucleus 3
cytosol 2

Gene Ontology (GO) - Cellular Components for TRIM2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IEA --
GO:0005737 cytoplasm IEA,IDA 11331580
genes like me logo Genes that share ontologies with TRIM2: view

Pathways & Interactions for TRIM2 Gene

genes like me logo Genes that share pathways with TRIM2: view

Pathways by source for TRIM2 Gene

UniProtKB/Swiss-Prot Q9C040-TRIM2_HUMAN

  • Pathway: Protein modification; protein ubiquitination.

Gene Ontology (GO) - Biological Process for TRIM2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016567 protein ubiquitination IEA --
GO:0043523 regulation of neuron apoptotic process ISS --
genes like me logo Genes that share ontologies with TRIM2: view

No data available for SIGNOR curated interactions for TRIM2 Gene

Transcripts for TRIM2 Gene

Unigene Clusters for TRIM2 Gene

Tripartite motif containing 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for TRIM2 Gene

No ASD Table

Relevant External Links for TRIM2 Gene

GeneLoc Exon Structure for
TRIM2
ECgene alternative splicing isoforms for
TRIM2

Expression for TRIM2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TRIM2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for TRIM2 Gene

This gene is overexpressed in Brain - Spinal cord (cervical c-1) (x4.0).

Protein differential expression in normal tissues from HIPED for TRIM2 Gene

This gene is overexpressed in Fetal Brain (21.8), Brain (15.8), Frontal cortex (11.6), and Spinal cord (10.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for TRIM2 Gene



Protein tissue co-expression partners for TRIM2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of TRIM2 Gene:

TRIM2

SOURCE GeneReport for Unigene cluster for TRIM2 Gene:

Hs.435711

Evidence on tissue expression from TISSUES for TRIM2 Gene

  • Nervous system(4.9)
  • Liver(4.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for TRIM2 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • nervous
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • head
Limb:
  • foot
  • lower limb
General:
  • peripheral nerve
  • peripheral nervous system
genes like me logo Genes that share expression patterns with TRIM2: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt for TRIM2 Gene

Orthologs for TRIM2 Gene

This gene was present in the common ancestor of animals.

Orthologs for TRIM2 Gene

Organism Taxonomy Gene Similarity Type Details
dog
(Canis familiaris)
Mammalia -- 35
  • 98 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia TRIM2 35
  • 98 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia TRIM2 35
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Trim2 34 16 35
  • 90.95 (n)
cow
(Bos Taurus)
Mammalia TRIM2 34 35
  • 90.91 (n)
rat
(Rattus norvegicus)
Mammalia Trim2 34
  • 90.28 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia TRIM2 35
  • 77 (a)
OneToOne
chicken
(Gallus gallus)
Aves TRIM2 34 35
  • 84.45 (n)
lizard
(Anolis carolinensis)
Reptilia TRIM2 35
  • 95 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia trim2 34
  • 78.67 (n)
zebrafish
(Danio rerio)
Actinopterygii trim2a 34 35
  • 74.25 (n)
trim2b 35
  • 70 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta brat 36 35
  • 37 (a)
worm
(Caenorhabditis elegans)
Secernentea ncl-1 36 35
  • 26 (a)
nhl-3 35
  • 22 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 23 (a)
OneToMany
Species where no ortholog for TRIM2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for TRIM2 Gene

ENSEMBL:
Gene Tree for TRIM2 (if available)
TreeFam:
Gene Tree for TRIM2 (if available)

Paralogs for TRIM2 Gene

Paralogs for TRIM2 Gene

(7) SIMAP similar genes for TRIM2 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with TRIM2: view

Variants for TRIM2 Gene

Sequence variations from dbSNP and Humsavar for TRIM2 Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type
rs587777063 Pathogenic, Charcot-Marie-Tooth disease 2R (CMT2R) [MIM:615490] 153,294,460(+) ATTGG(A/T)GGTCA reference, missense
rs587777838 Pathogenic 153,315,998(+) ATTTA(-/A)GGTAA reference, frameshift-variant
rs879253863 other 153,324,126(+) TACAG(A/C)TTTCC reference, missense
rs1000023073 -- 153,218,716(+) TCATA(C/T)ATGGT intron-variant
rs1000038762 -- 153,200,640(+) ATTTT(A/G)CATTC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for TRIM2 Gene

Variant ID Type Subtype PubMed ID
esv2119302 CNV deletion 18987734
esv2567648 CNV deletion 19546169
esv2662968 CNV deletion 23128226
esv2728552 CNV deletion 23290073
esv28591 CNV loss 19812545
esv3386287 CNV duplication 20981092
esv3602719 CNV loss 21293372
esv3602721 CNV loss 21293372
esv8682 CNV gain 19470904
nsv4556 CNV insertion 18451855
nsv509939 OTHER sequence alteration 20534489
nsv514259 CNV loss 21397061
nsv966329 CNV duplication 23825009

Variation tolerance for TRIM2 Gene

Residual Variation Intolerance Score: 3.98% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.63; 13.44% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TRIM2 Gene

Human Gene Mutation Database (HGMD)
TRIM2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TRIM2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TRIM2 Gene

Disorders for TRIM2 Gene

MalaCards: The human disease database

(16) MalaCards diseases for TRIM2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
charcot-marie-tooth disease, type 2r
  • charcot-marie-tooth disease, axonal, type 2r
axonal neuropathy
amyotrophic lateral sclerosis type 5
  • als5
charcot-marie-tooth disease, recessive intermediate d
  • charcot-marie-tooth disease recessive intermediate d
spastic paraplegia 55, autosomal recessive
  • hereditary spastic paraplegia 55
- elite association - COSMIC cancer census association via MalaCards
Search TRIM2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

TRIM2_HUMAN
  • 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:0000269 PubMed:23562820}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for TRIM2

Genetic Association Database (GAD)
TRIM2
Human Genome Epidemiology (HuGE) Navigator
TRIM2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TRIM2
genes like me logo Genes that share disorders with TRIM2: view

No data available for Genatlas for TRIM2 Gene

Publications for TRIM2 Gene

  1. The tripartite motif family identifies cell compartments. (PMID: 11331580) Reymond A. … Ballabio A. (EMBO J. 2001) 2 3 4 64
  2. Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. (PMID: 9628581) Nagase T. … Ohara O. (DNA Res. 1998) 2 3 4 64
  3. Deficiency of the E3 ubiquitin ligase TRIM2 in early-onset axonal neuropathy. (PMID: 23562820) Ylikallio E. … Tyynismaa H. (Hum. Mol. Genet. 2013) 3 4 64
  4. Identification of a novel Bcl-2-interacting mediator of cell death (Bim) E3 ligase, tripartite motif-containing protein 2 (TRIM2), and its role in rapid ischemic tolerance-induced neuroprotection. (PMID: 21478148) Thompson S. … Meller R. (J. Biol. Chem. 2011) 3 4 64
  5. Genome-wide association study of severity in multiple sclerosis. (PMID: 21654844) (Genes Immun. 2011) 3 46 64

Products for TRIM2 Gene

Sources for TRIM2 Gene

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