U.S. flag

An official website of the United States government

GTR Home > Genes

GYPC glycophorin C (Gerbich blood group)

Gene ID: 2995, updated on 28-Oct-2024
Gene type: protein coding
Also known as: GE; GPC; GPD; GYPD; CD236; PAS-2; CD236R; PAS-2'

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

DescriptionTests
Blood group, Gerbich system
MedGen: C1292300OMIM: 616089GeneReviews: Not available
See labs
Genome-wide association study of intelligence: additive effects of novel brain expressed genes.
GeneReviews: Not available
Malaria, susceptibility to
MedGen: C1970028OMIM: 611162GeneReviews: Not available
See labs

Genomic context

Location:
2q14.3
Sequence:
Chromosome: 2; NC_000002.12 (126656158..126696667)
Total number of exons:
7

Links

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.