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Gene : GYPC Homo sapiens

Name  ? glycophorin C (Gerbich blood group) Cytological Location  2q14.3
Brief Description  glycophorin C (Gerbich blood group)
Description  Glycophorin C (GYPC) is an integral membrane glycoprotein. It is a minor species carried by human erythrocytes, but plays an important role in regulating the mechanical stability of red cells. A number of glycophorin C mutations have been described. The Gerbich and Yus phenotypes are due to deletion of exon 3 and 2, respectively. The Webb and Duch antigens, also known as glycophorin D, result from single point mutations of the glycophorin C gene. The glycophorin C protein has very little homology with glycophorins A and B. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2012]
  • synonyms:
  • GPC,
  • GPC,
  • PAS-2,
  • uc002tnq.5,
  • GYPD,
  • PAS-2',
  • NM_002101,
  • GPD,
  • CD236,
  • OTTHUMG00000131464,
  • GYPC,
  • CD236R,
  • GYPD,
  • Ge,
  • GE,
  • CD236R,
  • HGNC:4704,
  • CD236
  • identifiers:
  • 2995,
  • ENSG00000136732,
  • GYPC

Genome feature

Region: gene ? Length: 40741  
Location: 2:126655935-126696675 Cyto location: 2q14.3


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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

2 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

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Other

3753 SN Ps

5 Cross References

19 Data Sets

3 Homologues

0 Located Features

97 Rna Seq Results