Gene: POMT2

Alternate names for this Gene: LGMD2N|LGMDR14|MDDGA2|MDDGB2|MDDGC2

Gene Summary: 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).

Gene is located in Chromosome: 14

Location in Chromosome : 14q24.3

Description of this Gene: protein O-mannosyltransferase 2

Type of Gene: protein-coding

rs1185491348 in POMT2 gene and MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2 PMID 15894594 2005 POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome.

PMID 17634419 2007 New POMT2 mutations causing congenital muscular dystrophy: identification of a founder mutation.

PMID 28980384 2017 Noncompaction cardiomyopathy in an infant with Walker-Warburg syndrome.

PMID 24002165 2014 Novel cardiovascular findings in association with a POMT2 mutation: three siblings with α-dystroglycanopathy.

PMID 17878297 2007 IL-20 is an arteriogenic cytokine that remodels collateral networks and improves functions of ischemic hind limbs.

PMID 19138766 2009 POMT2 intragenic deletions and splicing abnormalities causing congenital muscular dystrophy with mental retardation.

PMID 17878207 2007 Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan.

PMID 22958903 2012 Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndrome.

PMID 16701995 2006 POMT2 mutation in a patient with 'MEB-like' phenotype.

PMID 18752264 2008 Ethnically diverse causes of Walker-Warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the Middle East.

PMID 26495167 2015 Prenatal Diagnosis of Walker-Warburg Syndrome Using Single Nucleotide Polymorphism Array: A Clinical Experience from Three Related Palestinian Families with Congenital Hydrocephalus.

rs1185491348 in POMT2 gene and MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2 PMID 15894594 2005 POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome.

PMID 28980384 2017 Noncompaction cardiomyopathy in an infant with Walker-Warburg syndrome.

PMID 24002165 2014 Novel cardiovascular findings in association with a POMT2 mutation: three siblings with α-dystroglycanopathy.

PMID 17634419 2007 New POMT2 mutations causing congenital muscular dystrophy: identification of a founder mutation.

PMID 19138766 2009 POMT2 intragenic deletions and splicing abnormalities causing congenital muscular dystrophy with mental retardation.

PMID 27854218 2016 Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases.

PMID 17878297 2007 IL-20 is an arteriogenic cytokine that remodels collateral networks and improves functions of ischemic hind limbs.

PMID 17878207 2007 Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan.

PMID 19299310 2009 Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study.

PMID 18752264 2008 Ethnically diverse causes of Walker-Warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the Middle East.

PMID 26495167 2015 Prenatal Diagnosis of Walker-Warburg Syndrome Using Single Nucleotide Polymorphism Array: A Clinical Experience from Three Related Palestinian Families with Congenital Hydrocephalus.

rs1185491348 in POMT2 gene and MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 2 PMID 15894594 2005 POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome.

PMID 24002165 2014 Novel cardiovascular findings in association with a POMT2 mutation: three siblings with α-dystroglycanopathy.

PMID 17634419 2007 New POMT2 mutations causing congenital muscular dystrophy: identification of a founder mutation.

PMID 28980384 2017 Noncompaction cardiomyopathy in an infant with Walker-Warburg syndrome.

PMID 17878297 2007 IL-20 is an arteriogenic cytokine that remodels collateral networks and improves functions of ischemic hind limbs.

PMID 17878207 2007 Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan.

PMID 17923109 2007 POMT2 gene mutation in limb-girdle muscular dystrophy with inflammatory changes.

PMID 27854218 2016 Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases.

PMID 26495167 2015 Prenatal Diagnosis of Walker-Warburg Syndrome Using Single Nucleotide Polymorphism Array: A Clinical Experience from Three Related Palestinian Families with Congenital Hydrocephalus.

PMID 18752264 2008 Ethnically diverse causes of Walker-Warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the Middle East.

rs8014716 in POMT2 gene and Red Blood Cell Count measurement PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.