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

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; 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

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_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
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].
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.
The Gerbich blood group system
Title: The Gerbich blood group system: a review.
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.
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 EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-52544 (e-PCR)
- UniSTS:26625

RH17947 (e-PCR)
- UniSTS:27174

Bdy37c01 (e-PCR)
- UniSTS:57417

GDB:181270 (e-PCR)
- UniSTS:155231

G13290 (e-PCR)
- UniSTS:34183

RH93375 (e-PCR)
- UniSTS:87180

D2S2865 (e-PCR)
- UniSTS:35018

NoName (e-PCR)
- UniSTS:489712

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 more info	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

NG_007479.1 RefSeqGene

Range

5051..45560

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_813

mRNA and Protein(s)

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
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
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