MID1 Chromosome X
Midline 1
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What This Gene Does
The protein encoded by this gene is a member of the tripartite motif (TRIM) family, also known as the 'RING-B box-coiled coil' (RBCC) subgroup of RING finger proteins. 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. This protein forms homodimers which associate with microtubules in the cytoplasm. The protein is likely involved in the formation of multiprotein structures acting as anchor points to microtubules. Mutations in this gene have been associated with the X-linked form of Opitz syndrome, which is characterized by midline abnormalities such as cleft lip, laryngeal cleft, heart defects, hypospadias, and agenesis of the corpus callosum. This gene was also the first example of a gene subject to X inactivation in human while escaping it in mouse. Alternative promoter use, alternative splicing and alternative polyadenylation result in multiple transcript variants that have different tissue specificities. [provided by RefSeq, Dec 2016]
Gene Info
Gene Group
"Ring finger proteins|Tripartite motif family|Fibronectin type III domain containing"
Locus Type
gene with protein product
Location
Xp22.2
Ensembl
ENSG00000101871
Associated Conditions (8)
Inborn genetic diseases
MID1-related disorder
X-linked Opitz G/BBB syndrome
History of neurodevelopmental disorder
Dandy-Walker syndrome
Thyroid cancer
nonmedullary
1
Key Variants
RS138558359
Conflicting classifications of pathogenicity
Inborn genetic diseases, MID1-related disorder, Inborn genetic diseases
Health Risk
RS138629923
Conflicting classifications of pathogenicity
Health Risk
RS1430919712
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS143416243
Conflicting classifications of pathogenicity
Health Risk
RS147106995
Conflicting classifications of pathogenicity
X-linked Opitz G/BBB syndrome, Inborn genetic diseases, X-linked Opitz G/BBB syndrome
Health Risk
RS1555905154
Conflicting classifications of pathogenicity
Health Risk
RS1556004400
Conflicting classifications of pathogenicity
Inborn genetic diseases, X-linked Opitz G/BBB syndrome, Inborn genetic diseases
Health Risk
RS201845920
Conflicting classifications of pathogenicity
Health Risk
RS370465458
Conflicting classifications of pathogenicity
X-linked Opitz G/BBB syndrome, Inborn genetic diseases, X-linked Opitz G/BBB syndrome
Health Risk
RS374851071
Conflicting classifications of pathogenicity
History of neurodevelopmental disorder, History of neurodevelopmental disorder
Health Risk
RS398123341
Conflicting classifications of pathogenicity
Health Risk
RS727504015
Conflicting classifications of pathogenicity
Health Risk
All Variants (75)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1569265497 | Health Risk | Pathogenic | X-linked Opitz G/BBB syndrome, X-linked Opitz G/BBB syndrome |
| RS1569268013 | Health Risk | Pathogenic | X-linked Opitz G/BBB syndrome, X-linked Opitz G/BBB syndrome |
| RS1569268029 | Health Risk | Pathogenic | X-linked Opitz G/BBB syndrome, Inborn genetic diseases, X-linked Opitz G/BBB syndrome |
| RS1569270035 | Health Risk | Pathogenic | X-linked Opitz G/BBB syndrome, X-linked Opitz G/BBB syndrome |
| RS1929590555 | Health Risk | Pathogenic | — |
| RS2147287460 | Health Risk | Pathogenic | X-linked Opitz G/BBB syndrome, X-linked Opitz G/BBB syndrome |
| RS2147299274 | Health Risk | Pathogenic | — |
| RS2147369813 | Health Risk | Pathogenic | X-linked Opitz G/BBB syndrome, X-linked Opitz G/BBB syndrome, X-linked Opitz G/BBB syndrome |
| RS2147468543 | Health Risk | Pathogenic | — |
| RS2518959749 | Health Risk | Pathogenic | — |
| RS2518959924 | Health Risk | Pathogenic | — |
| RS2518968722 | Health Risk | Pathogenic | — |
| RS2518993152 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2519016619 | Health Risk | Pathogenic | — |
| RS2519039652 | Health Risk | Pathogenic | — |
| RS2519099802 | Health Risk | Pathogenic | — |
| RS2519200004 | Health Risk | Pathogenic | — |
| RS2519201544 | Health Risk | Pathogenic | Thyroid cancer, nonmedullary, 1 |
| RS28934611 | Health Risk | Pathogenic | X-linked Opitz G/BBB syndrome, X-linked Opitz G/BBB syndrome |
| RS387906719 | Health Risk | Pathogenic | X-linked Opitz G/BBB syndrome, X-linked Opitz G/BBB syndrome |
| RS398123343 | Health Risk | Pathogenic | — |
| RS745554420 | Health Risk | Pathogenic | X-linked Opitz G/BBB syndrome, X-linked Opitz G/BBB syndrome |
| RS786200982 | Health Risk | Pathogenic | — |
| RS797044786 | Health Risk | Pathogenic | X-linked Opitz G/BBB syndrome, X-linked Opitz G/BBB syndrome |
| RS1934582371 | Health Risk | Pathogenic/Likely pathogenic | X-linked Opitz G/BBB syndrome, X-linked Opitz G/BBB syndrome |