Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	2995
Gene name	Glycophorin C (Gerbich blood group)
Gene symbol	GYPC
Synonyms (NCBI Gene)	CD236CD236RGEGPCGPDGYPDPAS-2PAS-2'
Chromosome	2
Chromosome location	2q14.3
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 G

Show/Hide all (2)

SNP ID	Visualize variation	Clinical significance	Consequence
rs121912760	A>G	Affects	5 prime UTR variant, genic upstream transcript variant, coding sequence variant, missense variant
rs121912761	C>A,T	Affects	5 prime UTR variant, genic upstream transcript variant, coding sequence variant, missense variant

Show/Hide all (43)

miRTarBase ID	miRNA	Experiments
MIRT1038902	hsa-miR-3677-5p	CLIP-seq
MIRT1038903	hsa-miR-4757-5p	CLIP-seq
MIRT1038904	hsa-miR-643	CLIP-seq
MIRT2544195	hsa-miR-1245b-3p	CLIP-seq
MIRT2544196	hsa-miR-2115	CLIP-seq
MIRT2544197	hsa-miR-2355-5p	CLIP-seq
MIRT2544198	hsa-miR-3065-3p	CLIP-seq
MIRT2544199	hsa-miR-3065-5p	CLIP-seq
MIRT2544200	hsa-miR-3074-5p	CLIP-seq
MIRT2544201	hsa-miR-3124-3p	CLIP-seq
MIRT2544202	hsa-miR-3160-3p	CLIP-seq
MIRT2544203	hsa-miR-3620	CLIP-seq
MIRT2544204	hsa-miR-3679-3p	CLIP-seq
MIRT2544205	hsa-miR-370	CLIP-seq
MIRT2544206	hsa-miR-3943	CLIP-seq
MIRT2544207	hsa-miR-3977	CLIP-seq
MIRT2544208	hsa-miR-4310	CLIP-seq
MIRT2544209	hsa-miR-4487	CLIP-seq
MIRT2544210	hsa-miR-4640-3p	CLIP-seq
MIRT2544211	hsa-miR-4722-3p	CLIP-seq
MIRT2544212	hsa-miR-502-5p	CLIP-seq
MIRT2544213	hsa-miR-516a-3p	CLIP-seq
MIRT2544214	hsa-miR-558	CLIP-seq
MIRT2544195	hsa-miR-1245b-3p	CLIP-seq
MIRT2544196	hsa-miR-2115	CLIP-seq
MIRT2682213	hsa-miR-2355-3p	CLIP-seq
MIRT2544197	hsa-miR-2355-5p	CLIP-seq
MIRT2544198	hsa-miR-3065-3p	CLIP-seq
MIRT2544199	hsa-miR-3065-5p	CLIP-seq
MIRT2544200	hsa-miR-3074-5p	CLIP-seq
MIRT2544201	hsa-miR-3124-3p	CLIP-seq
MIRT2544202	hsa-miR-3160-3p	CLIP-seq
MIRT2544203	hsa-miR-3620	CLIP-seq
MIRT2544206	hsa-miR-3943	CLIP-seq
MIRT2544207	hsa-miR-3977	CLIP-seq
MIRT2544208	hsa-miR-4310	CLIP-seq
MIRT2544209	hsa-miR-4487	CLIP-seq
MIRT2544210	hsa-miR-4640-3p	CLIP-seq
MIRT2544211	hsa-miR-4722-3p	CLIP-seq
MIRT2544212	hsa-miR-502-5p	CLIP-seq
MIRT2544213	hsa-miR-516a-3p	CLIP-seq
MIRT2544214	hsa-miR-558	CLIP-seq
MIRT2682214	hsa-miR-676	CLIP-seq

Show/Hide all (11)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	16669616, 32296183
GO:0005886	Component	Plasma membrane	IDA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	NAS	8219208
GO:0005886	Component	Plasma membrane	TAS	2416746
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IBA
GO:0016020	Component	Membrane	IEA
GO:0030863	Component	Cortical cytoskeleton	IBA
GO:0030863	Component	Cortical cytoskeleton	IDA	16669616
GO:0030863	Component	Cortical cytoskeleton	IEA

MIM	HGNC	e!Ensembl
110750	4704	ENSG00000136732

P04921

Protein name

Glycophorin-C (Glycoconnectin) (Glycophorin-D) (GPD) (Glycoprotein beta) (PAS-2') (Sialoglycoprotein D) (CD antigen CD236)

Protein 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 importa

PDB

2EJY

Family and domains

Tissue specificity

TISSUE SPECIFICITY: Glycophorin-C is expressed in erythrocytes. Glycophorin-D and IsoGPC are ubiquitously expressed. {ECO:0000269|PubMed:2349119}.

Sequence

MWSTRSPNSTAWPLSLEPDPGMASASTTMHTTTIAEPDPGMSGWPDGRMETSTPTIMDIV
VIAGVIAAVAIVLVSLLFVMLRYMYRHKGTYHTNEAKGTEFAESADAALQGDPALQDAGD
SSRKEYFI

Sequence length

128

Interactions

View interactions

	KEGG		Reactome
	Malaria		Cell surface interactions at the vascular wall

Show/Hide Unknown Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Blood group, Gerbich system	Affects	rs121912760, rs121912761	RCV000019300 RCV000019302
GYPC-related disorder	Uncertain significance; Benign; Likely benign	rs115178969, rs143216051, rs115201071, rs28387219	RCV004758182 RCV003910652 RCV003920788 RCV003916031

Show/Hide Text Mining Associations (24)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenocarcinoma of Lung	Associate	32795291
Anemia	Associate	34562771
Breast Neoplasms	Associate	25774687
Carcinogenesis	Associate	32795291
Cardiomyopathy Dilated	Associate	36042172
Cholestasis	Stimulate	38003603
Diabetic Nephropathies	Associate	37986381
Elliptocytosis 1	Associate	8353290
Elliptocytosis Hereditary	Associate	11719395, 1430200
Endometrial Neoplasms	Associate	36001862
Gastroenteritis	Associate	20491826
Hand Foot and Mouth Disease	Associate	32990841
Hepatitis C Chronic	Associate	34562771
Infections	Associate	20491826
Leukemia Myeloid	Associate	14521454
Leukemia Myeloid Acute	Associate	28793301
Liver Diseases	Associate	38003603
Malaria	Associate	11719395, 14695625
Mitochondrial Diseases	Stimulate	38003603
Neoplasms	Associate	32795291, 36944188
Ovarian Neoplasms	Associate	35370009
Parkinson Disease	Associate	23251494
Triple Negative Breast Neoplasms	Associate	11719395
Urinary Bladder Neoplasms	Associate	36275756

GYPC (glycophorin C (Gerbich blood group))