GYPC Gene (Protein Coding)

Glycophorin C (Gerbich Blood Group)

GC02P126655
GIFtS:
43
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 glycop... See more...

Aliases for GYPC Gene

Aliases for GYPC Gene

  • Glycophorin C (Gerbich Blood Group) 2 3 5
  • GPC 2 3 4
  • Sialoglycoprotein D 3 4
  • Glycoprotein Beta 3 4
  • Glycoconnectin 3 4
  • Glycophorin-C 3 4
  • Glycophorin-D 3 4
  • CD236R 2 3
  • PAS-2' 3 4
  • CD236 2 3
  • GYPD 2 3
  • GPD 3 4
  • CD236 Antigen 4
  • PAS-2 3
  • GYPC 5
  • GLPC 4
  • GE 3
  • Ge 2

External Ids for GYPC Gene

Previous GeneCards Identifiers for GYPC Gene

  • GC02P124707
  • GC02P125340
  • GC02P127318
  • GC02P127506
  • GC02P127129
  • GC02P127413
  • GC02P119723

Summaries for GYPC Gene

Entrez Gene Summary for GYPC Gene

  • 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]

GeneCards Summary for GYPC Gene

GYPC (Glycophorin C (Gerbich Blood Group)) is a Protein Coding gene. Diseases associated with GYPC include Blood Group, Gerbich System and Malaria. Among its related pathways are Cell surface interactions at the vascular wall and Response to elevated platelet cytosolic Ca2+.

UniProtKB/Swiss-Prot Summary for GYPC Gene

  • This protein is a minor sialoglycoprotein in human erythrocyte membranes. The blood group Gerbich antigens and receptors for Plasmodium falciparum merozoites are most likely located within the extracellular domain. Glycophorin-C plays an important role in regulating the stability of red cells.

Additional gene information for GYPC Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GYPC Gene

Genomics for GYPC Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for GYPC Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GYPC on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GYPC

Top Transcription factor binding sites by QIAGEN in the GYPC gene promoter:
  • AREB6
  • GATA-1
  • MAZR
  • NF-kappaB
  • NF-kappaB1

Genomic Locations for GYPC Gene

Genomic Locations for GYPC Gene
chr2:126,655,935-126,696,675
(GRCh38/hg38)
Size:
40,741 bases
Orientation:
Plus strand
chr2:127,413,509-127,454,246
(GRCh37/hg19)
Size:
40,738 bases
Orientation:
Plus strand

Genomic View for GYPC Gene

Genes around GYPC on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GYPC Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GYPC Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for GYPC Gene

Proteins for GYPC Gene

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  • Protein details for GYPC Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P04921-GLPC_HUMAN
    Recommended name:
    Glycophorin-C
    Protein Accession:
    P04921
    Secondary Accessions:
    • B2R522
    • Q53SV9
    • Q92642

    Protein attributes for GYPC Gene

    Size:
    128 amino acids
    Molecular mass:
    13811 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=CAA32093.1; Type=Frameshift; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for GYPC Gene

    Alternative splice isoforms for GYPC Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GYPC Gene

Protein Expression for GYPC Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for GYPC Gene

  • O-glycosylated with core 1 or possibly core 8 glycans.
  • Glycosylation at Ser3, Ser24, Thr4, Ser26, Ser6, Thr27, Thr28, Asn8, Ser9, Thr10, Thr31, Thr32, Thr33, Ser15, and Ser42
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • GLPC_HUMAN (189)

Other Protein References for GYPC Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for GYPC Gene

Domains & Families for GYPC Gene

Gene Families for GYPC Gene

HGNC:
Human Protein Atlas (HPA):
  • Blood group antigen proteins
  • CD markers
  • Predicted membrane proteins

Protein Domains for GYPC Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for GYPC Gene

GenScript: Design optimal peptide antigens:
  • Glycophorin C (A8D444_HUMAN)
  • Mutant glycophorin C (A8UKE9_HUMAN)
  • Mutant glycophorin C (A8UKF0_HUMAN)
  • Glycophorin C (A8UKF1_HUMAN)
  • Sialoglycoprotein D (GLPC_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P04921

UniProtKB/Swiss-Prot:

GLPC_HUMAN :
  • Belongs to the glycophorin-C family.
Family:
  • Belongs to the glycophorin-C family.
genes like me logo Genes that share domains with GYPC: view

Function for GYPC Gene

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Molecular function for GYPC Gene

UniProtKB/Swiss-Prot Function:
This protein is a minor sialoglycoprotein in human erythrocyte membranes. The blood group Gerbich antigens and receptors for Plasmodium falciparum merozoites are most likely located within the extracellular domain. Glycophorin-C plays an important role in regulating the stability of red cells.
GENATLAS Biochemistry:
glycophorin C and D (Gerbich blood group),plasmodium falciparum receptor

Phenotypes From GWAS Catalog for GYPC Gene

Gene Ontology (GO) - Molecular Function for GYPC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 16669616
genes like me logo Genes that share ontologies with GYPC: view
genes like me logo Genes that share phenotypes with GYPC: view

Human Phenotype Ontology for GYPC Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

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No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for GYPC Gene

Localization for GYPC Gene

Subcellular locations from UniProtKB/Swiss-Prot for GYPC Gene

Cell membrane. Single-pass type III membrane protein. Note=Linked to the membrane via band 4. 1.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GYPC gene
Compartment Confidence
plasma membrane 5
cytoskeleton 5
cytosol 3
extracellular 2
mitochondrion 2
nucleus 2
endoplasmic reticulum 2
endosome 2
lysosome 2
golgi apparatus 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for GYPC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane NAS,TAS --
GO:0005887 integral component of plasma membrane TAS 2416746
GO:0016020 membrane IBA 21873635
GO:0016021 integral component of membrane IEA --
GO:0030863 cortical cytoskeleton IBA,IDA 16669616
genes like me logo Genes that share ontologies with GYPC: view

Pathways & Interactions for GYPC Gene

genes like me logo Genes that share pathways with GYPC: view

Pathways by source for GYPC Gene

1 KEGG pathway for GYPC Gene

Gene Ontology (GO) - Biological Process for GYPC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0050900 leukocyte migration TAS --
genes like me logo Genes that share ontologies with GYPC: view

No data available for SIGNOR curated interactions for GYPC Gene

Drugs & Compounds for GYPC Gene

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  1. Drug

(8) Drugs for GYPC Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(7) Additional Compounds for GYPC Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with GYPC: view

Transcripts for GYPC Gene

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  2. miRNA
  3. Inhibitory RNA
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mRNA/cDNA for GYPC Gene

3 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GYPC

Alternative Splicing Database (ASD) splice patterns (SP) for GYPC Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b · 6c
SP1: -
SP2: - -
SP3: - - -
SP4:

Relevant External Links for GYPC Gene

GeneLoc Exon Structure for
GYPC

Expression for GYPC Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for GYPC Gene

mRNA expression in normal human tissues for GYPC Gene
mRNA expression by BioGPS for GYPC GenemRNA expression by GTEx for GYPC Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for GYPC Gene

This gene is overexpressed in Whole Blood (x19.9).

Protein differential expression in normal tissues from HIPED for GYPC Gene

This gene is overexpressed in Prostate (9.2), Spleen (8.0), Urinary Bladder (7.3), and Neutrophil (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for GYPC Gene



Protein tissue co-expression partners for GYPC Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GYPC

SOURCE GeneReport for Unigene cluster for GYPC Gene:

Hs.59138

mRNA Expression by UniProt/SwissProt for GYPC Gene:

P04921-GLPC_HUMAN
Tissue specificity: Glycophorin-C is expressed in erythrocytes. Glycophorin-D and IsoGPC are ubiquitously expressed.

Evidence on tissue expression from TISSUES for GYPC Gene

  • Spleen(4.7)
  • Blood(4.6)
  • Liver(4.6)
  • Skin(3.5)
  • Bone marrow(3.2)
  • Lymph node(3.1)
  • Heart(3.1)
  • Kidney(2.9)
  • Nervous system(2.9)
  • Lung(2.8)
  • Muscle(2.8)
  • Intestine(2.6)
  • Eye(2.3)
  • Adrenal gland(2.1)
  • Stomach(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for GYPC Gene

Germ Layers:
  • mesoderm
Systems:
  • cardiovascular
  • immune
Regions:
General:
  • blood
  • red blood cell
genes like me logo Genes that share expression patterns with GYPC: view

Orthologs for GYPC Gene

This gene was present in the common ancestor of chordates.

Orthologs for GYPC Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia GYPC 31
  • 91 (a)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Gypc 30 17 31
  • 79.93 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Gypc 30
  • 79.21 (n)
Dog
(Canis familiaris)
 Mammalia GYPC 31
  • 74 (a)
 OneToOne
Cow
(Bos Taurus)
 Mammalia GPC 31
  • 67 (a)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia GYPC 31
  • 53 (a)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia GYPC 31
  • 34 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves GYPC 30 31
  • 67.44 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia GYPC 31
  • 86 (a)
 OneToOne
Zebrafish
(Danio rerio)
 Actinopterygii gypc 31
  • 58 (a)
 OneToOne
Rainbow Trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.2910 30
Species where no ortholog for GYPC was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for GYPC Gene

ENSEMBL:
Gene Tree for GYPC (if available)
TreeFam:
Gene Tree for GYPC (if available)
Aminode:
Evolutionary constrained regions (ECRs) for GYPC: view image

Paralogs for GYPC Gene

(5) SIMAP similar genes for GYPC Gene using alignment to 5 proteins:

  • GLPC_HUMAN
  • A8D444_HUMAN
  • A8UKE9_HUMAN
  • A8UKF0_HUMAN
  • A8UKF1_HUMAN
genes like me logo Genes that share paralogs with GYPC: view

No data available for Paralogs for GYPC Gene

Variants for GYPC Gene

Products:

  1. SNP Genotyping and Copy Number Assay

Polymorphic Variants from UniProtKB/Swiss-Prot for GYPC Gene

GLPC_HUMAN-P04921
GYPC is responsible for the Gerbich blood group system (Ge) [MIM:616089]. Ge negative individuals carry a deletion of GYPC exon 3.
GLPC_HUMAN-P04921
Deletion of exon 3 in GYPC results in resistance to Plasmodium falciparum invasion and protection against severe malaria [MIM:611162].

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GYPC Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
719629 Benign: not provided 126,695,967(+) T/C MISSENSE_VARIANT
721097 Benign: not provided 126,690,264(+) C/T MISSENSE_VARIANT,FIVE_PRIME_UTR_VARIANT,INTRON_VARIANT
779867 Benign: not provided 126,693,955(+) C/G INTRON_VARIANT
rs121912760 Affects: Blood group, Gerbich system. - 126,656,286(+) A/Gp.Asn8Ser MISSENSE_VARIANT,FIVE_PRIME_UTR_VARIANT
rs121912761 Affects: Blood group, Gerbich system. - 126,656,303(+) C/Tp.Leu14Phe MISSENSE_VARIANT,FIVE_PRIME_UTR_VARIANT

Additional dbSNP identifiers (rs#s) for GYPC Gene

Structural Variations from Database of Genomic Variants (DGV) for GYPC Gene

Variant ID Type Subtype PubMed ID
esv2429496 CNV deletion 19546169
esv2672764 CNV deletion 23128226
esv2720722 CNV deletion 23290073
esv3414587 CNV insertion 20981092
esv3592344 CNV loss 21293372
nsv1142296 CNV deletion 24896259
nsv583011 CNV loss 21841781
nsv583012 CNV loss 21841781
nsv583013 CNV gain 21841781
nsv583014 CNV loss 21841781
nsv583015 CNV loss 21841781

Variation tolerance for GYPC Gene

Residual Variation Intolerance Score: 85.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.03; 37.30% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GYPC Gene

Blood Group Antigen Gene Mutation Database (BGMUT)
Blood Group System
Human Gene Mutation Database (HGMD)
GYPC
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GYPC

SNP Genotyping and Copy Number Assay Products

Disorders for GYPC Gene

MalaCards: The human disease database

(20) MalaCards diseases for GYPC Gene - From: OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
blood group, gerbich system
  • ge
malaria
  • malaria, susceptibility to
hereditary elliptocytosis
  • congenital elliptocytosis
chickenpox
  • varicella
herpes zoster
  • herpes zona
- elite association - COSMIC cancer census association via MalaCards
Search GYPC in MalaCards View complete list of genes associated with diseases

Additional Disease Information for GYPC

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with GYPC: view

No data available for UniProtKB/Swiss-Prot and Genatlas for GYPC Gene

Publications for GYPC Gene

  1. Plasmodium falciparum erythrocyte invasion through glycophorin C and selection for Gerbich negativity in human populations. (PMID: 12469115) Maier AG … Cowman AF (Nature medicine 2003) 3 4 23
  2. 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. (PMID: 8219208) Daniels G … Cedergren B (Blood 1993) 3 4 23
  3. Point mutation in the glycophorin C gene results in the expression of the blood group antigen Dha. (PMID: 1413665) King MJ … Reid ME (Vox sanguinis 1992) 3 4 23
  4. Molecular characterization of erythrocyte glycophorin C variants. (PMID: 1991173) Chang S … Mohandas N (Blood 1991) 3 4 23
  5. An ubiquitous isoform of glycophorin C is produced by alternative splicing. (PMID: 2349119) Le Van Kim C … Colin Y (Nucleic acids research 1990) 3 4 23

ExternalLinks

View latest publications for GYPC gene in Mastermind

Products for GYPC Gene

  • Addgene plasmids for GYPC
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Sources for GYPC Gene