Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
23321
Gene name Gene Name - the full gene name approved by the HGNC.
Tripartite motif containing 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
TRIM2
Synonyms (NCBI Gene) Gene synonyms aliases
CMT2R, RNF86
Disease Acronyms (UniProt) Disease acronyms from UniProt database
CMT2R
Chromosome Chromosome number
4
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
4q31.3
Summary Summary of gene provided in NCBI Entrez 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
SNPs SNP information provided by dbSNP.
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.
miRTarBase ID miRNA Experiments Reference
MIRT002748 hsa-miR-1-3p Microarray 15685193
MIRT006877 hsa-miR-181c-5p In situ hybridization, Luciferase 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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000209 Process Protein polyubiquitination IBA 21873635
GO:0004842 Function Ubiquitin-protein transferase activity ISS
GO:0005515 Function Protein binding IPI 21478148, 21516116, 25416956, 26871637, 28514442, 32296183, 32814053
GO:0005737 Component Cytoplasm IDA 11331580
GO:0008270 Function Zinc ion binding NAS 11331580
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
614141 15974 ENSG00000109654
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Arthritis Degenerative polyarthritis rs1594890601, rs1594882933, rs184370809, rs776489319, rs1594883470 17568789
Charcot-marie-tooth disease CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2R, Charcot-Marie-Tooth disease type 2R rs137852739, rs137852737, rs118203972, rs118203974, rs267607183, rs267606878, rs121908287, rs1562648373, rs121908288, rs1368013631, rs28940291, rs28940292, rs28940293, rs28940294, rs28940295
View all (1137 more)
23562820, 25893792, 26257172, 18687884
Unknown
Disease term Disease name Evidence References Source
Peripheral axonal neuropathy Peripheral axonal neuropathy ClinVar
Multiple Sclerosis Multiple Sclerosis GWAS
Thyrotoxic Periodic Paralysis Thyrotoxic Periodic Paralysis GWAS
Ovarian cancer Ovarian cancer Conditional KD of IL6 in the OCCA xenograft model delays tumor growth GWAS, CBGDA
Associations from Text Mining
Disease Name Relationship Type References
Adenocarcinoma Follicular Associate 21420716
Alcoholic Neuropathy Associate 24817735
Breast Neoplasms Associate 28216417
Carcinoma Renal Cell Associate 33223511
Charcot Marie Tooth Disease Associate 26556829
Charcot Marie Tooth disease Type 2B Associate 25893792
Esophagitis Associate 29628359
Heredodegenerative Disorders Nervous System Associate 32233732
Lymphoma Non Hodgkin Associate 24817735
Melanoma Associate 33118318