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GYPC glycophorin C (Gerbich blood group) [ Homo sapiens (human) ]

Gene ID: 2995, updated on 3-Apr-2024

Summary

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Official Symbol
GYPCprovided by HGNC
Official Full Name
glycophorin C (Gerbich blood group)provided by HGNC
Primary source
HGNC:HGNC:4704
See related
Ensembl:ENSG00000136732 MIM:110750; AllianceGenome:HGNC:4704
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
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]
Expression
Broad expression in bone marrow (RPKM 63.1), fat (RPKM 47.2) and 17 other tissues See more
Orthologs
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Genomic context

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Location:
2q14.3
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (126656158..126696667)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (127093225..127133709)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (127413734..127454243)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105373601 Neighboring gene uncharacterized LOC105373602 Neighboring gene tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta pseudogene 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16475 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16476 Neighboring gene CRISPRi-validated cis-regulatory element chr2.4504 Neighboring gene CRISPRi-validated cis-regulatory element chr2.4505 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16477 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11926 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:127414467-127415306 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16480 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11927 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:127427919-127428462 Neighboring gene RNA, U6 small nuclear 675, pseudogene Neighboring gene NANOG hESC enhancer GRCh37_chr2:127516252-127516753 Neighboring gene uncharacterized LOC124907882

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Novel variant in glycophorin c gene protects against ribavirin-induced anemia during chronic hepatitis C treatment. Lin JJ, et al. Biomed Pharmacother, 2021 Nov. PMID 34562771
  2. Genetic background of the rare Yus and Gerbich blood group phenotypes: homologous regions of the GYPC gene contribute to deletion alleles. Gourri E, et al. Br J Haematol, 2017 May. PMID 28272739
  3. Glycophorin C (CD236R) mediates vivax malaria parasite rosetting to normocytes. Lee WC, et al. Blood, 2014 May 1. PMID 24652986, Free PMC Article
  4. [Human erythrocyte glycophorin C as the receptor for EBA-140 Plasmodium falciparum merozoite ligand]. Rydzak J, et al. Postepy Hig Med Dosw (Online), 2013 Dec 23. PMID 24379273
  5. Glycophorin C delta(exon3) is not associated with protection against severe anaemia in Papua New Guinea. Tavul L, et al. P N G Med J, 2008 Sep-Dec. PMID 21061946

See all (47) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Novel variant in glycophorin c gene protects against ribavirin-induced anemia during chronic hepatitis C treatment.
    Title: Novel variant in glycophorin c gene protects against ribavirin-induced anemia during chronic hepatitis C treatment.
  2. Lu/BCAM-mediated binding to laminin-alpha5 is restricted by interacting, in cis, with glycophorin-C-derived sialic acid residues.
    Title: Glycophorin-C sialylation regulates Lu/BCAM adhesive capacity during erythrocyte aging.
  3. The authors set out to understand the similarities and differences among the GYPC deletion alleles Yus and Gerbich by positional PCR sequence analysis to identify the breakpoints. They developed a set of diagnostic PCRs that can be used to classify both Yus and Gerbich phenotypic variants on the basis of their nucleotide deletion. The Yus phenotype was defined by 4 different breakpoints and the Ger
    Title: Genetic background of the rare Yus and Gerbich blood group phenotypes: homologous regions of the GYPC gene contribute to deletion alleles.
  4. Plasmodium falciparum STEVOR functions as an erythrocyte-binding protein that recognizes Glycophorin C (GPC) on the red blood cell (RBC) surface and that its binding correlates with the level of GPC on the RBC surface.
    Title: STEVOR is a Plasmodium falciparum erythrocyte binding protein that mediates merozoite invasion and rosetting.
  5. Rosetting assays using CD236R knockdown normocytes derived from hematopoietic stem cells further supports the role of glycophorin C as a receptor in P vivax rosette formation.
    Title: Glycophorin C (CD236R) mediates vivax malaria parasite rosetting to normocytes.
  6. Precise definition of the binding site for the EBA-140 ligand on glycophorin C may be important with respect to human erythrocyte invasion inhibition strategies based on a receptor.
    Title: [Human erythrocyte glycophorin C as the receptor for EBA-140 Plasmodium falciparum merozoite ligand].
  7. Glycophorin C delta (exon3) is not associated with protection against severe anaemia in Papua New Guinea.
    Title: Glycophorin C delta(exon3) is not associated with protection against severe anaemia in Papua New Guinea.
  8. The Gerbich blood group system
    Title: The Gerbich blood group system: a review.
  9. Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
    Title: A three-stage genome-wide association study of general cognitive ability: hunting the small effects.
  10. The molecular evolution of GYPC among the Hominoidea (Greater and Lesser Apes) and the pattern of polymorphism at the locus in a global human sample, were examined.
    Title: Molecular evolution of GYPC: evidence for recent structural innovation and positive selection in humans.
Submit: New GeneRIF Correction See all GeneRIFs (15)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Blood group, Gerbich system
MedGen: C1292300 OMIM: 616089 GeneReviews: Not available
Compare labs
Malaria, susceptibility to
MedGen: C1970028 OMIM: 611162 GeneReviews: Not available
Compare labs

EBI GWAS Catalog

Description
Genome-wide association study of intelligence: additive effects of novel brain expressed genes.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC117309, MGC126191, MGC126192

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Component Evidence Code Pubs
is_active_in cortical cytoskeleton IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cortical cytoskeleton IDA
Inferred from Direct Assay
more info
 PubMed 
located_in membrane HDA PubMed 
is_active_in membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in plasma membrane IDA
Inferred from Direct Assay
more info
  
located_in plasma membrane TAS
Traceable Author Statement
more info
  

General protein information

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Preferred Names
glycophorin-C
Names
Gerbich antigen
Gerbich blood group antigen
glycoconnectin
glycophorin-D
glycoprotein beta
sialoglycoprotein D

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_007479.1 RefSeqGene

    Range
    5051..45560
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_813

mRNA and Protein(s)

  1. NM_001256584.2 → NP_001243513.1  glycophorin-C isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) has an additional exon, compared to variant 1. This variant represents translation initiation at a downstream AUG compared to variant 1; the 5'-most initiation codon, as used in variant 1, is associated with a weak Kozak sequence and a truncated ORF that would render the transcript a candidate for nonsense-mediated decay (NMD). Leaky scanning may allow translation initiation at the downstream AUG, which is associated with a strong Kozak sequence. The encoded isoform (3) has a shorter N-terminus, compared to isoform 1.
    Source sequence(s)
    AC013474, BC016653
    Consensus CDS
    CCDS58724.1
    UniProtKB/TrEMBL
    A0A7T8EI91
    Related
    ENSP00000349354.7, ENST00000356887.12
    Conserved Domains (1) summary
    smart00294
    Location:59 → 77
    4.1m; putative band 4.1 homologues' binding motif

  2. NM_002101.5 → NP_002092.1  glycophorin-C isoform 1

    See identical proteins and their annotated locations for NP_002092.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AC013474, BC106051
    Consensus CDS
    CCDS2136.1
    UniProtKB/Swiss-Prot
    B2R522, P04921, Q53SV9, Q92642
    UniProtKB/TrEMBL
    A0A7T8EI91, A0A7T8ISH0
    Related
    ENSP00000259254.4, ENST00000259254.9
    Conserved Domains (1) summary
    smart00294
    Location:80 → 98
    4.1m; putative band 4.1 homologues' binding motif

  3. NM_016815.4 → NP_058131.1  glycophorin-C isoform 2

    See identical proteins and their annotated locations for NP_058131.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks and in-frame exon in the central coding region, compared to variant 1. The encoded isoform 2 is shorter than isoform 1. This isoform (2) specifies the Yus phenotype.
    Source sequence(s)
    AC013474, CB992018
    Consensus CDS
    CCDS46402.1
    UniProtKB/TrEMBL
    A0A7T8EI91, A0A7T8ISH0
    Related
    ENSP00000386904.3, ENST00000409836.3
    Conserved Domains (1) summary
    smart00294
    Location:61 → 79
    4.1m; putative band 4.1 homologues' binding motif

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    126656158..126696667
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047444034.1 → XP_047299990.1  glycophorin-C isoform X1

  2. XM_047444035.1 → XP_047299991.1  glycophorin-C isoform X2

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    127093225..127133709
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054341565.1 → XP_054197540.1  glycophorin-C isoform X1

  2. XM_054341566.1 → XP_054197541.1  glycophorin-C isoform X2

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P04921.1 GenPept UniProtKB/Swiss-Prot:P04921

Gene LinkOut

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