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

    Gene ID: 2995, updated on 2-Nov-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
    mouse all
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    Genomic context

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    See GYPC in Genome Data Viewer
    Location:
    2q14.3
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (126656158..126696667)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (127093225..127133709)
    RS_2024_09 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 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. Structure of human erythrocyte glycophorin C deduced from cDNA analysis. Cartron JP, et al. Rev Fr Transfus Immunohematol, 1986 Sep. PMID 3544149
    2. Plasmodium falciparum erythrocyte invasion through glycophorin C and selection for Gerbich negativity in human populations. Maier AG, et al. Nat Med, 2003 Jan. PMID 12469115, Free PMC Article
    3. Co-presence of a point mutation and a deletion of exon 3 in the glycophorin C gene and concomitant production of a Gerbich-related antibody. King MJ, et al. Transfusion, 1997 Oct. PMID 9354820
    4. A point mutation in the GYPC gene results in the expression of the blood group Ana antigen on glycophorin D but not on glycophorin C: further evidence that glycophorin D is a product of the GYPC gene. Daniels G, et al. Blood, 1993 Nov 15. PMID 8219208
    5. Molecular analysis of glycophorin C deficiency in human erythrocytes. Winardi R, et al. Blood, 1993 May 15. PMID 7683929

    See all (50) 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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    NEW Try the new Transcript table

    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_2024_08

    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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