Gene Gene information from NCBI Gene database.
Entrez ID 23321
Gene name Tripartite motif containing 2
Gene symbol TRIM2
Synonyms (NCBI Gene)
CMT2RRNF86
Chromosome 4
Chromosome location 4q31.3
Summary 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
SNPs SNP information provided by dbSNP.
6
SNP ID Visualize variation Clinical significance Consequence
rs116558260 C>A,T Conflicting-interpretations-of-pathogenicity Coding sequence variant, genic downstream transcript variant, synonymous variant
rs587777063 A>T Pathogenic Intron variant, missense variant, coding sequence variant, genic downstream transcript variant
rs587777838 A>- Pathogenic Frameshift variant, coding sequence variant, genic downstream transcript variant
rs746386202 C>A,T Pathogenic Missense variant, stop gained, coding sequence variant, genic downstream transcript variant
rs879253863 A>C Likely-pathogenic Coding sequence variant, genic downstream transcript variant, missense variant
miRNA miRNA information provided by mirtarbase database.
689
miRTarBase ID miRNA Experiments Reference
MIRT002748 hsa-miR-1-3p Microarray 15685193
MIRT006877 hsa-miR-181c-5p In situ hybridizationLuciferase reporter assay 21720722
MIRT017162 hsa-miR-335-5p Microarray 18185580
MIRT020230 hsa-miR-130b-3p Sequencing 20371350
MIRT002748 hsa-miR-1-3p Microarray;Other 15685193
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
17
GO ID Ontology Definition Evidence Reference
GO:0000209 Process Protein polyubiquitination IBA
GO:0004842 Function Ubiquitin-protein transferase activity IEA
GO:0004842 Function Ubiquitin-protein transferase activity ISS
GO:0005515 Function Protein binding IPI 21478148, 21516116, 25416956, 26871637, 28514442, 32296183, 32814053, 33961781, 36217029
GO:0005737 Component Cytoplasm IDA 11331580
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
614141 15974 ENSG00000109654
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9C040
Protein name Tripartite motif-containing protein 2 (EC 2.3.2.27) (E3 ubiquitin-protein ligase TRIM2) (RING finger protein 86) (RING-type E3 ubiquitin transferase TRIM2)
Protein 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. Plays a role in antiviral immunity and l
PDB 7B2R , 7B96 , 7QRV , 7ZJ3 , 8A38 , 8AMS
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13445 zf-RING_UBOX 23 61 RING-type zinc-finger Domain
PF00643 zf-B_box 113 154 B-box zinc finger Domain
PF00630 Filamin 322 418 Filamin/ABP280 repeat Domain
PF01436 NHL 486 513 NHL repeat Repeat
PF01436 NHL 533 560 NHL repeat Repeat
PF01436 NHL 575 602 NHL repeat Repeat
PF01436 NHL 622 649 NHL repeat Repeat
PF01436 NHL 669 696 NHL repeat Repeat
PF01436 NHL 713 740 NHL repeat Repeat
Sequence
MASEGTNIPSPVVRQIDKQFLICSICLERYKNPKVLPCLHTFCERCLQNYIPAHSLTLSC
P
VCRQTSILPEKGVAALQNNFFITNLMDVLQRTPGSNAEESSILETVTAVAAGKPLSCPN
HDGNVMEFYCQSCETAMCRECTEGEHAEHPTVPL
KDVVEQHKASLQVQLDAVNKRLPEID
SALQFISEIIHQLTNQKASIVDDIHSTFDELQKTLNVRKSVLLMELEVNYGLKHKVLQSQ
LDTLLQGQESIKSCSNFTAQALNHGTETEVLLVKKQMSEKLNELADQDFPLHPRENDQLD
FIVETEGLKKSIHNLGTILTTNAVASETVATGEGLRQTIIGQPMSVTITTKDKDGELCKT
GNAYLTAELSTPDGSVADGEILDNKNGTYEFLYTVQKEGDFTLSLRLYDQHIRGSPFK
LK
VIRSADVSPTTEGVKRRVKSPGSGHVKQKAVKRPASMYSTGKRKENPIEDDLIFRVGTKG
RNKGEFTNLQGVAASTNGKILIADSNNQCVQIFSNDGQFKSRFGIRGRSPGQLQRPTGVA
VHPSGDIIIADYDNKWVSIF
SSDGKFKTKIGSGKLMGPKGVSVDRNGHIIVVDNKACCVF
IF
QPNGKIVTRFGSRGNGDRQFAGPHFAAVNSNNEIIITDFHNHSVKVFNQEGEFMLKFG
SNGEGNGQFNAPTGVAVDSNGNIIVADWGNSRIQVFDGSGSFLSYINTSADPLYGPQGLA
LTSDGHVVVADSGNHCFKVY
RYLQ
Sequence length 744
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Interferon gamma signaling
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
23
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Charcot-Marie-Tooth disease type 2R Likely pathogenic; Pathogenic rs879253863, rs587777063, rs587777838 RCV000235081
RCV000074302
RCV000074303
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
CHARCOT-MARIE-TOOTH DISEASE ClinVar, Disgenet
ClinVar, Disgenet
ClinVar, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2R CTD, Disgenet, HPO
CTD, Disgenet, HPO
CTD, Disgenet, HPO
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma Conflicting classifications of pathogenicity ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DEJERINE-SOTTAS DISEASE Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Bilateral vocal cord paralysis Vocal Cord Paralysis BEFREE 25893792
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 28216417 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Renal Cell Renal cell carcinoma Pubtator 33223511 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma, Ovarian Epithelial Ovarian Epithelial carcinoma BEFREE 26472353
★☆☆☆☆
Found in Text Mining only
Charcot-Marie-Tooth Disease Charcot-Marie-Tooth Disease BEFREE 30726215
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Charcot-Marie-Tooth disease type 2R Charcot-Marie-Tooth Disease Orphanet
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2R Charcot-Marie-Tooth Disease GENOMICS_ENGLAND_DG 18687884, 23562820
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2R Charcot-Marie-Tooth Disease ORPHANET_DG 23562820
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2R Charcot-Marie-Tooth Disease UNIPROT_DG 23562820
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2R Charcot-Marie-Tooth Disease CLINVAR_DG 25893792, 26257172
★★☆☆☆
Found in Text Mining + Unknown/Other Associations