MID2 Chromosome X
Midline 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 microtubular structures in the cytoplasm. Alternate splicing of this gene results in two transcript variants encoding different isoforms. [provided by RefSeq, Feb 2009]
Gene Info
Gene Group
"Ring finger proteins|Tripartite motif family|Fibronectin type III domain containing"
Locus Type
gene with protein product
Location
Xq22.3
Ensembl
ENSG00000080561
Associated Conditions (2)
Intellectual disability
X-linked 101
Key Variants
RS1170589314
Conflicting classifications of pathogenicity
Health Risk
RS150716868
Conflicting classifications of pathogenicity
Health Risk
RS750972972
Conflicting classifications of pathogenicity
Intellectual disability, X-linked 101, Intellectual disability
Health Risk
RS1933190705
Likely pathogenic
Intellectual disability, X-linked 101, Intellectual disability
Health Risk
RS200917006
Likely pathogenic
Intellectual disability, X-linked 101, Intellectual disability
Health Risk
RS587777605
Pathogenic/Likely pathogenic
Intellectual disability, X-linked 101, Intellectual disability
Health Risk
All Variants (6)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1170589314 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS150716868 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS750972972 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, X-linked 101, Intellectual disability |
| RS1933190705 | Health Risk | Likely pathogenic | Intellectual disability, X-linked 101, Intellectual disability |
| RS200917006 | Health Risk | Likely pathogenic | Intellectual disability, X-linked 101, Intellectual disability |
| RS587777605 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability, X-linked 101, Intellectual disability |