GYPC glycophorin C (Gerbich blood group)
Gene ID: 2995, updated on 3-Apr-2024Gene type: protein coding
Also known as: GE; GPC; GPD; GYPD; CD236; PAS-2; CD236R; PAS-2'
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- Go to complete Gene record for GYPC
- Go to Variation Viewer for GYPC variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Blood group, Gerbich system | See labs |
| Genome-wide association study of intelligence: additive effects of novel brain expressed genes. GeneReviews: Not available | |
| Malaria, susceptibility to | See labs |
Genomic context
- Location:
- 2q14.3
- Sequence:
- Chromosome: 2; NC_000002.12 (126656158..126696667)
- Total number of exons:
- 7
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for GYPC variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- Blood Group Antigen Gene Mutation Database (BGMUT)
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- GYPC database
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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