MAB21L2 Chromosome 4
Mab-21 like 2
Upload your DNA to see your personal genotypes for variants in MAB21L2.
What This Gene Does
This gene is similar to the C. elegans MAB-21 cell fate-determining gene, a downstream target of transforming growth factor-beta signaling. It is thought that this gene may be involved in neural development. The protein encoded by this gene is primarily nuclear, although some cytoplasmic localization has been observed. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
MAB21 family
Locus Type
gene with protein product
Location
4q31.3
Ensembl
ENSG00000181541
Associated Conditions (2)
Colobomatous microphthalmia-rhizomelic dysplasia syndrome
Inborn genetic diseases
Key Variants
RS1028628066
Conflicting classifications of pathogenicity
Colobomatous microphthalmia-rhizomelic dysplasia syndrome, Colobomatous microphthalmia-rhizomelic dysplasia syndrome
Health Risk
RS369382841
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS587777514
Conflicting classifications of pathogenicity
Colobomatous microphthalmia-rhizomelic dysplasia syndrome, Colobomatous microphthalmia-rhizomelic dysplasia syndrome
Health Risk
RS1554059974
Likely pathogenic
Health Risk
RS1771601609
Likely pathogenic
Colobomatous microphthalmia-rhizomelic dysplasia syndrome, Colobomatous microphthalmia-rhizomelic dysplasia syndrome
Health Risk
RS587777511
Likely pathogenic
Colobomatous microphthalmia-rhizomelic dysplasia syndrome, Colobomatous microphthalmia-rhizomelic dysplasia syndrome
Health Risk
RS587777513
Likely pathogenic
Colobomatous microphthalmia-rhizomelic dysplasia syndrome, Colobomatous microphthalmia-rhizomelic dysplasia syndrome
Health Risk
RS2126402910
Pathogenic
Colobomatous microphthalmia-rhizomelic dysplasia syndrome, Colobomatous microphthalmia-rhizomelic dysplasia syndrome
Health Risk
RS540652583
Pathogenic
Colobomatous microphthalmia-rhizomelic dysplasia syndrome, Colobomatous microphthalmia-rhizomelic dysplasia syndrome
Health Risk
RS587777512
Pathogenic
Colobomatous microphthalmia-rhizomelic dysplasia syndrome, Colobomatous microphthalmia-rhizomelic dysplasia syndrome, Colobomatous microphthalmia-rhizomelic dysplasia syndrome
Health Risk
All Variants (10)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1028628066 | Health Risk | Conflicting classifications of pathogenicity | Colobomatous microphthalmia-rhizomelic dysplasia syndrome, Colobomatous microphthalmia-rhizomelic dysplasia syndrome |
| RS369382841 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS587777514 | Health Risk | Conflicting classifications of pathogenicity | Colobomatous microphthalmia-rhizomelic dysplasia syndrome, Colobomatous microphthalmia-rhizomelic dysplasia syndrome |
| RS1554059974 | Health Risk | Likely pathogenic | — |
| RS1771601609 | Health Risk | Likely pathogenic | Colobomatous microphthalmia-rhizomelic dysplasia syndrome, Colobomatous microphthalmia-rhizomelic dysplasia syndrome |
| RS587777511 | Health Risk | Likely pathogenic | Colobomatous microphthalmia-rhizomelic dysplasia syndrome, Colobomatous microphthalmia-rhizomelic dysplasia syndrome |
| RS587777513 | Health Risk | Likely pathogenic | Colobomatous microphthalmia-rhizomelic dysplasia syndrome, Colobomatous microphthalmia-rhizomelic dysplasia syndrome |
| RS2126402910 | Health Risk | Pathogenic | Colobomatous microphthalmia-rhizomelic dysplasia syndrome, Colobomatous microphthalmia-rhizomelic dysplasia syndrome |
| RS540652583 | Health Risk | Pathogenic | Colobomatous microphthalmia-rhizomelic dysplasia syndrome, Colobomatous microphthalmia-rhizomelic dysplasia syndrome |
| RS587777512 | Health Risk | Pathogenic | Colobomatous microphthalmia-rhizomelic dysplasia syndrome, Colobomatous microphthalmia-rhizomelic dysplasia syndrome, Colobomatous microphthalmia-rhizomelic dysplasia syndrome |