GYPC (glycophorin C (Gerbich blood group))

Gene

• Entrez ID: 2995
• Gene name: Glycophorin C (Gerbich blood group)
• Gene symbol: GYPC
• Synonyms (NCBI Gene): CD236, CD236R, GE, GPC, GPD, GYPD, PAS-2, PAS-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

SNPs

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

miRNA

miRTarBase ID	miRNA	Experiments	Reference
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

Gene ontology (GO)

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

Other IDs

• MIM: 110750
• HGNC: 4704
• e!Ensembl: ENSG00000136732

Protein

• UniProt ID: 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
• 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

Pathways

KEGG:

Malaria

Reactome:

Cell surface interactions at the vascular wall

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ATRIAL FIBRILLATION	—	CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Blood group, Gerbich system	Affects	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ELLIPTOCYTOSIS, HEREDITARY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GYPC-related disorder	Uncertain significance; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIATIC ARTHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STROKE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Anemia	Anemia	Pubtator	34562771	Associate	★☆☆☆☆ Found in Text Mining only
Anemia, Hemolytic, Congenital	Anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	29483823		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	29483823		★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	CTD_human_DG	29892015, 30061737		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrial Fibrillation	Atrial Fibrillation	GWASCAT_DG	30061737		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	25774687	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	32795291	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	20179205, 31844628		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	36042172	Associate	★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	27765578		★☆☆☆☆ Found in Text Mining only
Cholelithiasis	Cholelithiasis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cholestasis	Cholelithiasis	Pubtator	38003603	Stimulate	★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	27765578		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	26453561		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	37986381	Associate	★☆☆☆☆ Found in Text Mining only
Elliptocytosis 1	Hereditary elliptocytosis	Pubtator	8353290	Associate	★☆☆☆☆ Found in Text Mining only
Elliptocytosis Hereditary	Hereditary elliptocytosis	Pubtator	11719395, 1430200	Associate	★☆☆☆☆ Found in Text Mining only
Elliptocytosis, Hereditary	Elliptocytosis	BEFREE	11719395, 1884026		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Elliptocytosis, Hereditary	Elliptocytosis	ORPHANET_DG	1884026, 8353290		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Elliptocytosis, Hereditary	Elliptocytosis	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	36001862	Associate	★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	20179205, 31844628		★☆☆☆☆ Found in Text Mining only
Frontal bossing	Frontal bossing	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gastroenteritis	Gastroenteritis	Pubtator	20491826	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	22675171		★☆☆☆☆ Found in Text Mining only
Hepatitis C Chronic	Hepatitis c	Pubtator	34562771	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary elliptocytosis	Hereditary Elliptocytosis	Orphanet			★☆☆☆☆ Found in Text Mining only
Hydrops Fetalis	Hydrops Fetalis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperbilirubinemia, Neonatal	Hyperbilirubinemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoxic-Ischemic Encephalopathy	Hypoxic-Ischemic Encephalopathy	BEFREE	30918993		★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid	Myeloid leukemia	Pubtator	14521454	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	28793301	Associate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	24460300		★☆☆☆☆ Found in Text Mining only
Liver Diseases	Liver disease	Pubtator	38003603	Associate	★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	26453561		★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	38003603	Stimulate	★☆☆☆☆ Found in Text Mining only
Ovalocytosis, Malaysian-Melanesian-Filipino Type	Ovalocytosis	BEFREE	14695625, 21793815		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	35370009	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	23251494	Associate	★☆☆☆☆ Found in Text Mining only
Paroxysmal atrial fibrillation	Paroxysmal atrial fibrillation	CTD_human_DG	29892015, 30061737		★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	LHGDN	19149918		★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	27765578		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	31844628		★☆☆☆☆ Found in Text Mining only
stomatocytic anemia	Anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	11719395	Associate	★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	36275756	Associate	★☆☆☆☆ Found in Text Mining only