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Gene : POMT2 Homo sapiens

Name  ? protein O-mannosyltransferase 2 Cytological Location  14q24.3
Brief Description  protein O-mannosyltransferase 2
Description  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]
  • synonyms:
  • LGMDR14,
  • LGMD2N,
  • AF105020,
  • HGNC:19743,
  • OTTHUMG00000171556,
  • POMT2,
  • NM_013382,
  • MDDGA2,
  • LGMD2N,
  • MDDGC2,
  • Dolichyl-phosphate-mannose--protein mannosyltransferase,
  • uc001xti.3,
  • MDDGB2
  • identifiers:
  • 29954,
  • ENSG00000009830,
  • POMT2

Genome feature

Region: gene ? Length: 45930  
Location: 14:77274956-77320885 reverse strand Cyto location: 14q24.3


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Function

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Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

4 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

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Interactions

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Expression

Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.

 

Other

3756 SN Ps

5 Cross References

20 Data Sets

11 Homologues

0 Located Features

97 Rna Seq Results