1. Gene
  2. GYPC - glycophorin C (Gerbich blood group) Gene

GYPC - glycophorin C (Gerbich blood group) Gene

中文名称:血型糖蛋白 C (Gerbich 血型)

种属: Homo sapiens

同用名: GE; GPC; GPD; GYPD; CD236; PAS-2; CD236R; PAS-2'

基因 ID: 2995 | 基因类型: protein coding

关于 GYPC

Cytogenetic location: 2q14.3 Genomic coordinates (GRCh38): 2:126,656,158-126,696,667 (from NCBI)

This gene has 5 transcripts (splice variants), 136 orthologues and is associated with 3 phenotypes. Broad expression in bone marrow (RPKM 63.1), fat (RPKM 47.2) and 17 other tissues.

功能概要

血型糖蛋白 C (GYPC) 是一种完整的膜糖蛋白。它是人体红细胞携带的一种次要物质,但在调节红细胞的机械稳定性方面起着重要作用。已经描述了许多血型糖蛋白 C 突变。 Gerbich 和 Yus 表型分别是由于外显子 3 和 2 的缺失。 Webb 和 Duch 抗原,也称为血型糖蛋白 D,由血型糖蛋白 C 基因的单点突变产生。血型糖蛋白 C 蛋白与血型糖蛋白 A 和 B 几乎没有同源性。交替剪接导致多个转录变体。[RefSeq 提供,2012 年 2 月]

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]

GYPC 基因产物(3)

mRNA Protein Name
NM_001256584.2 NP_001243513.1 glycophorin-C isoform 3
NM_002101.5 NP_002092.1 glycophorin-C isoform 1
NM_016815.4 NP_058131.1 glycophorin-C isoform 2
基因本体论
  • 分子功能
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
16669616 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cortical cytoskeleton IDA
IDA: 通过直接分析推断
16669616 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断
蛋白主名 其他名称

glycophorin-C

Gerbich blood group antigen

重组 GYPC 蛋白

目录号 产品名 蛋白编号 纯度
HY-P76956 Glycophorin C/GYPC Protein, Human (HEK293, His) P04921 (M1-M57) ≥95%

关联疾病

疾病名称 别名
Blood Group, Gerbich System

GE

Gerbich Blood Group System

Malaria

Malaria, Susceptibility To

Malaria, Resistance To

Malaria, Cerebral

Cerebral Malaria

Malaria, Severe, Susceptibility To

Malaria, Severe, Resistance To

Malaria, Cerebral, Susceptibility To

Induced Malaria

Malaria, Vivax, Protection Against

Malaria, Severe

Malaria, Cerebral, Reduced Risk Of

Malaria, Protection Against

Resistance To Malaria Due To G6pd Deficiency

Malaria Due To G6pd Deficiency

Malarial Encephalitis

CM

Malaria Cerebral

Susceptibility To Malaria

Acute Pernicious Fever

Aestivo-Autumnal Fever

Aestivo Autumnal Malaria

Chagres Fever

Continued Malaria Fever

Estivo-Autumnal Fever

Estivo-Autumnal Malaria

Estivo-Autumnal Malarial Fever

Falciparum Fever

Malignant Tertian Fever

Malignant Tertian Malaria

Pernicious Intermittent Fever

Pernicious Malaria

Quotidian Malaria

Subtertian Fever

Subtertian Malaria Fever

Subtertian Malignant Tertian Malaria

Tropical Malaria

Algid Malaria

Bilious Haemoglobinuric Fever

Black Water Fever

Blackwater Fever

Malarial Blackwater Fever

Severe Malarial Falciparum

West African Fever

Malarial Haematinuria

Haemoglobinuric Fever

Haemoglobinuric Malaria

Severe Plasmodium Falciparum Malaria

Malarial Haemoglobinuria

Malarial Haematuria

Falciparum Malaria [Malignant Tertian]

Malaria Tropica

Malarial Shock

Chagres Virus Disease

Malignant Malaria

Mtm - [Malignant Tertian Malaria]

Tm -[Malignant Tertian Malaria]

Panama Fever

St - [Subtertian Malaria]

Malarial Quotidian

Benign Tertian Malaria

Tertian Ague

Vivax Fever

Plasmodium Vivax Malaria Nos

Btm - [Benign Tertian Malaria]

Bt - [Benign Tertian Malaria]

Vivax Malaria

Benign Tertian Vivax Malaria

Tertian Malaria

Quartan Malaria

Quartan Ague

Quartan Fever

Plasmodium Malariae Malaria Nos

Quartan Malarial

Malaria By Plasmodium Malariae

Malariae Malaria

Ovale Tertian Malaria

Plasmodium Ovale Fever

Malaria Fever By Plasmodium Ovale

Ovale Malaria

Malaria By Plasmodium Ovale

Malarial Ovale

Marsh Fever

Remittent Congestive Fever

Coastal Fever

Remittent Gastric Fever

Miasmatic Fever

Congestive Remittent Fever

Intermittent Fever

Jungle Fever

Paludism

Cameroon Fever

Ague

Corsican Fever

Intermittent Bilious Fever

Disease Due To Plasmodiidae

Malarial Fever

Plasmodiosis

Remittent Fever

Roman Fever

Malaria Fever Nos

Malaria Nos

Paludal Fever

Clinically Diagnosed Malaria

Clinically Diagnosed Malaria Without Parasitological Confirmation

Congestive Fever

Malarial Cachexia

Marsh Cachexia

Paludal Cachexia

Recurrent Malaria

Remittent Malaria

Hereditary Elliptocytosis

Congenital Elliptocytosis

Ovalocytosis

Elliptocytosis, Hereditary

He

Elliptocytosis Hereditary

Congenital Ovalocytosis

Elliptocytosis

Hereditary Elliptocytosis With Infantile Poikilocytosis

Hereditary Ovalocytosis

Oval Erythrocytosis

He - [Hereditary Elliptocytosis]

Elliptocytosis Anaemia

Chickenpox

Varicella

Varicella Nos

Laryngotracheitis
Upper Lip Cancer
Herpes Simplex

Herpes Simplex Infections

Herpesvirus Hominis Disease

Herpes Simplex Disease

Herpesviral Infection Due To Herpes Simplex

Infections Due To Simplex Virus

Herpes Nos

Viral Labyrinthitis

Epidemic Vertigo

Vestibular Neuronitis

Herpes Zoster

Shingles

Zoster

Herpes Zona

Herpes Zoster Disease

Zona Zoster

Herpes Zoster Of Skin And Mucous Membranes

Zoster Nos

Zoster With Nervous System Involvement

Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema

Dehydrated Hereditary Stomatocytosis

Hereditary Xerocytosis

Xerocytosis, Hereditary

Pshk1

Pseudohyperkalemia Edinburgh

Dehydrated Hereditary Stomatocytosis With Or Without Pseudohyperkalemia And/Or Perinatal Edema

DHS1

Dhs

Hereditary Desiccytosis

Dehydrated Hereditary Stomatocytosis 1

Desiccytosis, Hereditary

Pseudohyperkalemia, Familial, 1, Due To Red Cell Leak

Pseudohyperkalemia Familial 1, Due To Red Cell Leak

Desiccytosis Hereditary

Xerocytosis Hereditary

Familial Pseudohyperkalemia 1 Due To Red Cell Leak

Stomatocytosis, Dehydrated, Hereditary, With/Without Pseudohyperkalemia And/Or Perinatal Edema

Xerocytosis

Acute Retinal Necrosis Syndrome

Acute Retinal Necrosis

Retinal Necrosis Syndrome, Acute

Genital Herpes

Herpes Genitalis

Genital Herpes Simplex

Venereal Herpes

Virus-Genital Herpes

Herpes Simplex Virus Keratitis

Dendritic Keratitis

Keratitis, Dendritic

Keratitis, Herpetic

Fetal Erythroblastosis

Erythroblastosis, Fetal

Ef - Erythroblastosis Foetalis

Erythroblastosis Fetalis

Haemolytic Disease Due To Rhesus Isoimmunisation

Rhesus Isoimmunisation Of The Newborn

Argentine Hemorrhagic Fever

Argentinian Hemorrhagic Fever

Junin Hemorrhagic Fever

Hemorrhagic Fever, Argentinian

Ahf - [Argentinian Haemorrhagic Fever]

Argentine Haemorrhagic Fever

Junin Haemorrhagic Fever

Human Cytomegalovirus Infection

Cytomegalovirus Infection

Cytomegalovirus Infections

Lassa Fever

Lf

Lassa Hemorrhagic Fever

Lf - [Lassa Fever]

Hereditary Spherocytosis

Congenital Spherocytic Hemolytic Anemia

Spherocytic Anemia

Congenital Spherocytosis

Spherocytosis, Type 1

Minkowski Chauffard Syndrome

Hs

Minkowski-Chauffard Disease

Minkowski-Chauffard Syndrome

Spherocytosis Hereditary

Spherocytosis, Hereditary

Anemia, Hereditary Spherocytic Hemolytic

Herpetic Whitlow

Herpetic Felon

Plasmodium Vivax Malaria

Malaria, Vivax

Malaria By Plasmodium Vivax

Vivax Malaria

Malaria Vivax

Labyrinthitis

Labyrinthine Disorder

Inner Ear Inflammation

Otitis Interna

Labyrinth Hyperaemia

疾病名称 别名
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

直系同源

种属 基因名 来源 基因 ID
Mus musculus GYPC MGD MGI:1098566
Bos taurus GYPC VGNC VGNC:49062
Rattus norvegicus GYPC RGD RGD:1310295
Others GYPC NCBI