TRIM2 Chromosome 4
Tripartite motif containing 2
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What This Gene Does
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]
Gene Info
Gene Group
"Ring finger proteins|Tripartite motif family"
Locus Type
gene with protein product
Location
4q31.3
Ensembl
ENSG00000109654
Associated Conditions (3)
Charcot-Marie-Tooth disease type 2R
Colon adenocarcinoma
Gastric cancer
Key Variants
RS116558260
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 2R, Colon adenocarcinoma, Gastric cancer
Health Risk
RS1180600606
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 2R, Charcot-Marie-Tooth disease type 2R
Health Risk
RS1190110289
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 2R, Charcot-Marie-Tooth disease type 2R
Health Risk
RS201921014
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 2R, Charcot-Marie-Tooth disease type 2R
Health Risk
RS534011584
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 2R, Charcot-Marie-Tooth disease type 2R
Health Risk
RS1159989977
Likely pathogenic
Health Risk
RS879253863
Likely pathogenic
Charcot-Marie-Tooth disease type 2R, Charcot-Marie-Tooth disease type 2R
Health Risk
RS587777063
Pathogenic
Charcot-Marie-Tooth disease type 2R, Charcot-Marie-Tooth disease type 2R
Health Risk
RS587777838
Pathogenic
Charcot-Marie-Tooth disease type 2R, Charcot-Marie-Tooth disease type 2R
Health Risk
All Variants (9)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS116558260 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 2R, Colon adenocarcinoma, Gastric cancer |
| RS1180600606 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 2R, Charcot-Marie-Tooth disease type 2R |
| RS1190110289 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 2R, Charcot-Marie-Tooth disease type 2R |
| RS201921014 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 2R, Charcot-Marie-Tooth disease type 2R |
| RS534011584 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 2R, Charcot-Marie-Tooth disease type 2R |
| RS1159989977 | Health Risk | Likely pathogenic | — |
| RS879253863 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease type 2R, Charcot-Marie-Tooth disease type 2R |
| RS587777063 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 2R, Charcot-Marie-Tooth disease type 2R |
| RS587777838 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 2R, Charcot-Marie-Tooth disease type 2R |