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

    Gene ID: 2995, updated on 13-Feb-2019

    Summary

    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
    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'; GE:GPC:GPD:GYPD
    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

    Genomic context

    See GYPC in Genome Data Viewer
    Location:
    2q14.3
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 2 NC_000002.12 (126655935..126696675)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (127413426..127454251)

    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 RNA, U6 small nuclear 675, pseudogene Neighboring gene uncharacterized LOC105373603

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Phenotypes

    Associated conditions

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

    NHGRI GWAS Catalog

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

    Pathways from BioSystems

    • Cell surface interactions at the vascular wall, organism-specific biosystem (from REACTOME)
      Cell surface interactions at the vascular wall, organism-specific biosystemLeukocyte extravasation is a rigorously controlled process that guides white cell movement from the vascular lumen to sites of tissue inflammation. The powerful adhesive interactions that are require...
    • Hemostasis, organism-specific biosystem (from REACTOME)
      Hemostasis, organism-specific biosystemHemostasis is a physiological response that culminates in the arrest of bleeding from an injured vessel. Under normal conditions the vascular endothelium supports vasodilation, inhibits platelet adhe...
    • Malaria, organism-specific biosystem (from KEGG)
      Malaria, organism-specific biosystemPlasmodium protozoa are parasites that account for malaria infection. Sporozoite forms of the parasite are injected by mosquito bites under the skin and are carried to the liver where they develop in...
    • Malaria, conserved biosystem (from KEGG)
      Malaria, conserved biosystemPlasmodium protozoa are parasites that account for malaria infection. Sporozoite forms of the parasite are injected by mosquito bites under the skin and are carried to the liver where they develop in...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • MGC117309, MGC126191, MGC126192

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    protein binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    leukocyte migration TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    cortical cytoskeleton IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cortical cytoskeleton IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extrinsic component of plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    integral component of plasma membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    membrane HDA PubMed 
    membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    plasma membrane TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    glycophorin-C
    Names
    glycoconnectin
    glycophorin-D
    glycoprotein beta
    sialoglycoprotein D

    NCBI Reference Sequences (RefSeq)

    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
      4828..45568
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001256584.1NP_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)
      AA913940, AC013474, BC016653
      Consensus CDS
      CCDS58724.1
      UniProtKB/Swiss-Prot
      P04921
      Related
      ENSP00000349354.7, ENST00000356887.12
      Conserved Domains (1) summary
      smart00294
      Location:5977
      4.1m; putative band 4.1 homologues' binding motif
    2. NM_002101.5NP_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
      P04921
      Related
      ENSP00000259254.4, ENST00000259254.8
      Conserved Domains (1) summary
      smart00294
      Location:8098
      4.1m; putative band 4.1 homologues' binding motif
    3. NM_016815.3NP_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)
      AA913940, AC013474, CB992018
      Consensus CDS
      CCDS46402.1
      UniProtKB/Swiss-Prot
      P04921
      Related
      ENSP00000386904.3, ENST00000409836.3
      Conserved Domains (1) summary
      smart00294
      Location:6179
      4.1m; putative band 4.1 homologues' binding motif

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p12 Primary Assembly

      Range
      126655935..126696675
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006712460.3XP_006712523.1  glycophorin-C isoform X1

      Conserved Domains (1) summary
      smart00294
      Location:7492
      4.1m; putative band 4.1 homologues' binding motif
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