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Gene : B3GLCT Homo sapiens

Name  ? beta 3-glucosyltransferase Cytological Location  13q12.3
Brief Description  beta 3-glucosyltransferase
Description  The protein encoded by this gene is a beta-1,3-glucosyltransferase that transfers glucose to O-linked fucosylglycans on thrombospondin type-1 repeats (TSRs) of several proteins. The encoded protein is a type II membrane protein. Defects in this gene are a cause of Peters-plus syndrome (PPS).[provided by RefSeq, Mar 2009]
  • synonyms:
  • OTTHUMG00000016688,
  • B3GTL,
  • HGNC:20207,
  • B3Glc-T,
  • NM_194318,
  • B3GTL,
  • beta 1,3-galactosyltransferase-like,
  • AB101481,
  • B3GALTL,
  • beta3Glc-T,
  • B3GALTL,
  • Gal-T,
  • B3Glc-T,
  • B3GLCT,
  • beta-1,3-glucosyltransferase
  • identifiers:
  • 145173,
  • ENSG00000187676,
  • B3GLCT

Genome feature

Region: gene ? Length: 132302  
Location: 13:31199975-31332276 Cyto location: 13q12.3


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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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Gene --> Chromosomal location.

Gene --> GO terms.

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Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

1 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

18 Data Sets

9 Homologues

0 Located Features

97 Rna Seq Results