POMT2 Chromosome 14
Protein O-mannosyltransferase 2
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What This Gene Does
The protein encoded by this gene is an O-mannosyltransferase that requires interaction with the product of the POMT1 gene for enzymatic function. The encoded protein is found in the membrane of the endoplasmic reticulum. Defects in this gene are a cause of Walker-Warburg syndrome (WWS).[provided by RefSeq, Oct 2008]
Gene Info
Gene Group
Dolichyl D-mannosyl phosphate dependent mannosyltransferases
Locus Type
gene with protein product
Location
14q24.3
Ensembl
ENSG00000009830
Associated Conditions (14)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
type A2
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
type B2
Autosomal recessive limb-girdle muscular dystrophy type 2N
POMT2-related disorder
type A1
Inborn genetic diseases
Lung cancer
Intellectual disability
Autosomal recessive limb-girdle muscular dystrophy
Abnormal brain morphology
Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies
Muscular dystrophy
Key Variants
RS1026361359
Conflicting classifications of pathogenicity
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
Health Risk
RS1057522317
Conflicting classifications of pathogenicity
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
Health Risk
RS1253447533
Conflicting classifications of pathogenicity
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2, Autosomal recessive limb-girdle muscular dystrophy type 2N
Health Risk
RS1292248431
Conflicting classifications of pathogenicity
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2, Autosomal recessive limb-girdle muscular dystrophy type 2N
Health Risk
RS139308429
Conflicting classifications of pathogenicity
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
Health Risk
RS141193672
Conflicting classifications of pathogenicity
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
Health Risk
RS141339355
Conflicting classifications of pathogenicity
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
Health Risk
RS142299878
Conflicting classifications of pathogenicity
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2, Autosomal recessive limb-girdle muscular dystrophy type 2N
Health Risk
RS142479943
Conflicting classifications of pathogenicity
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
Health Risk
RS142916824
Conflicting classifications of pathogenicity
Autosomal recessive limb-girdle muscular dystrophy type 2N, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
Health Risk
RS144748043
Conflicting classifications of pathogenicity
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
Health Risk
RS1452558347
Conflicting classifications of pathogenicity
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
Health Risk
All Variants (203)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS780725241 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, POMT2-related disorder, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) |
| RS886043110 | Health Risk | Pathogenic/Likely pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability) |
| RS918556979 | Health Risk | Pathogenic/Likely pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability) |