Format

Send to:

Choose Destination

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

Gene ID: 2995, updated on 22-Aug-2020

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'
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
109.20200815 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (126656158..126696668)
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 CRISPRi-validated cis-regulatory element chr2.4504 Neighboring gene CRISPRi-validated cis-regulatory element chr2.4505 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 Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Blood group, Gerbich system
MedGen: C1292300 OMIM: 616089 GeneReviews: Not available
Compare labs
Genome-wide association study of intelligence: additive effects of novel brain expressed genes.
GeneReviews: Not available
Susceptibility to malaria
MedGen: C1970028 OMIM: 611162 GeneReviews: Not available
Compare labs

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 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 
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 IDA
Inferred from Direct Assay
more info
 
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
    5051..45560
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001256584.2NP_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/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, ENST00000259254.9
    Conserved Domains (1) summary
    smart00294
    Location:8098
    4.1m; putative band 4.1 homologues' binding motif
  3. NM_016815.4NP_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/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 Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    126656158..126696668
    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
Support Center