1. Gene
  2. GP6 - glycoprotein VI platelet Gene

GP6 - glycoprotein VI platelet Gene

中文名称:糖蛋白 VI 血小板

种属: Homo sapiens

同用名: GPIV; GPVI; BDPLT11

基因 ID: 51206 | 基因类型: protein coding

关于 GP6

Cytogenetic location: 19q13.42 Genomic coordinates (GRCh38): 19:55,013,705-55,038,264 (from NCBI)

This gene has 5 transcripts (splice variants), 1 gene allele, 93 orthologues, 25 paralogues and is associated with 2 phenotypes. Low expression observed in reference dataset.

功能概要

该基因编码免疫球蛋白超家族的血小板膜糖蛋白。编码的蛋白质是胶原蛋白的受体,在胶原蛋白诱导的血小板聚集和血栓形成中起着关键作用。编码的蛋白质与 Fc 受体 γ 链形成复合物,在胶原蛋白结合后启动血小板激活信号级联。该基因的突变是血小板型出血障碍 11 (BDPLT11) 的一个原因。已经观察到该基因编码多种亚型的可变剪接转录物变体。[RefSeq 提供,2011 年 12 月]

This gene encodes a platelet membrane glycoprotein of the immunoglobulin superfamily. The encoded protein is a receptor for collagen and plays a critical role in collagen-induced platelet aggregation and thrombus formation. The encoded protein forms a complex with the Fc receptor gamma-chain that initiates the platelet activation signaling cascade upon collagen binding. Mutations in this gene are a cause of platelet-type bleeding disorder-11 (BDPLT11). Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]

GP6 基因产物(3)

mRNA Protein Name
NM_001083899.2 NP_001077368.2 platelet glycoprotein VI isoform 1 precursor
NM_001256017.2 NP_001242946.2 platelet glycoprotein VI isoform 3 precursor
NM_016363.5 NP_057447.5 platelet glycoprotein VI isoform 2 precursor
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
1715582 GOA
enables protein tyrosine kinase binding IPI
IPI: 通过物理相互作用推断
31145836 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
is active in membrane raft IDA
IDA: 通过直接分析推断
31145836 GOA
located in tetraspanin-enriched microdomain IDA
IDA: 通过直接分析推断
18795891 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

GP6 蛋白结构

Ig_2

Ig_2: Immunoglobulin domain (27 - 105)

Ig_2

Ig_2: Immunoglobulin domain (113 - 202)

  • 0
  • 100
  • 200
  • 300
  • 339 a.a.
蛋白主名 其他名称

platelet glycoprotein VI

glycoprotein 6

重组 GP6 蛋白

目录号 产品名 蛋白编号 纯度
HY-P77952 GPVI Protein, Human (HEK293, His) Q9HCN6-1 (Q21-K267) ≥95%

关联疾病

疾病名称 别名
Bleeding Disorder, Platelet-Type, 11

BDPLT11

Glycoprotein Vi Deficiency

Gp Vi Deficiency

Platelet-Type Bleeding Disorder 11

Bleeding Diathesis Due To A Collagen Receptor Defect

Bleeding Diathesis Due To Glycoprotein Vi Deficiency

Platelet-Type Bleeding Disorder-11

Bleeding Disorder, Platelet Type 11

Hemorrhage

Coronary Thrombosis

Coronary Artery Thrombosis

Gray Platelet Syndrome

Platelet Alpha-Granule Deficiency

GPS

Bdplt4

Bleeding Disorder, Platelet-Type, 4

Grey Platelet Syndrome

Platelet-Type Bleeding Disorder 4

Marked Decrease Or Absence Of Alpha-Granules And Of Platelet-Specific Alpha-Granule Proteins

Deficient Alpha Granule Syndrome

Platelet Alpha Granule Deficiency

Platelet Granule Defect

Alpha Storage Pool Deficiency

Bleeding Disorder Platelet-Type 4

Thrombosis

Thrombosis Of Blood Vessel

Hemorrhagic Disease

Hemorrhagic Disorders

Hemorrhagic Diathesis

Hemorrhagic Diseases

Bleeding Tendency

Acquired Coagulation Factor Inhibitor Disorder

Acquired Inhibitor Of Coagulation

Antithrombinaemia

Antithromboplastinogenaemia

Circulating Anticoagulant Disorder

Haemorrhagic Disorder Due To Antithrombinaemia

Haemorrhagic Disorder Due To Excess Administered Heparin

Antithromboplastinaemia

Haemorrhagic Disorder Due To Hyperheparinemia

Inverted Follicular Keratosis

Inverted Folicular Keratosis

Seborrheic Keratosis

Penis Basal Cell Carcinoma

Basal Cell Carcinoma Of The Penis

Cervical Adenosarcoma

Cervical Muellerian Adenosarcoma

Cervical Mullerian Adenosarcoma

Uterus Carcinoma In Situ
Penile Cancer

Penis Carcinoma

Carcinoma Of Penis

Penile Neoplasm

Penile Carcinoma

Penile Neoplasms

Malignant Neoplasm Of Penis

Ca Penis

Malignant Neoplasm Of Body Of Penis

Malignant Penile Tumor

Penile Ca

Thrombocytopenic Purpura, Autoimmune

Idiopathic Thrombocytopenic Purpura

Autoimmune Thrombocytopenic Purpura

Immune Thrombocytopenic Purpura

Itp

Idiopathic Purpura

AITP

Ideopath Thrombocytopenic Pur

Primary Thrombocytopenic Purpura

Werlhof'S Disease

Thrombocytopenic Purpura Autoimmune

Purpura Thrombocytopenic Idiopathic

Purpura, Thrombocytopenic, Idiopathic

Autoimmune Thrombocytopenia

Thrombocytopenia Due To Platelet Alloimmunization

Idiopathic Thrombocytopenia

Idiopathic Thrombocytopenia Purpura

Frank'S Essential Thrombocytopenia

Itp - [Idiopathic Thrombocytopenia Purpura]

Werlhof Disease

Primary Autoimmune Thrombocytopenic Purpura

Haemorrhagic Purpura

Essential Thrombocytopenia

Purpura Haemorrhagica

Pseudo-Von Willebrand Disease

Bdplt3

Von Willebrand Disease, Platelet-Type

VWDP

Platelet-Type Bleeding Disorder 3

Platelet Type-Von Willebrand Disease

Pt-Vwd

Von Willebrand Disease Platelet-Type

Von Willebrand Disease, Platelet Type

Pseudo Von Willebrand Disease

Bleeding Disorder, Platelet-Type, 3

Pseudo-Von Willebrand Disease Type 2b

Bleeding Disorder Platelet-Type 3

Pseudo-Vwd

Myocardial Infarction

Heart Attack

Myocardial Infarction, Susceptibility To

Myocardial Infarction 1

Myocardial Infarction, Protection Against

Myocardial Infarction, Decreased Susceptibility To

Myocardial Infarction, Decreased

Myocardial Infarct

MCI1

Premature Myocardial Infarction

Myocardial Infarction, Susceptibility To, Type 1

Cervix Uteri Carcinoma In Situ

Carcinoma In Situ Of Cervix

Carcinoma In Situ Of Uterine Cervix

Cervical Intraepithelial Neoplasia

Carcinoma Of Cervix Stage 0

Cervical Intraepithelial Neoplasia Grade Iii With Severe Dysplasia

Cervix Ca In Situ

Cin Iii

Cin Iii - Carcinoma In Situ Of Cervix

Cin Iii - Severe Dyskaryosis

Severe Dysplasia Of Cervix

Severe Dysplasia Of The Cervix Uteri

Squamous Intraepithelial Neoplasia, Grade Iii

Cervix Intraepithelial Neoplasia Grade 3 Ajcc V7

Pulmonary Embolism

Pulmonary Artery Embolism

Pulmonary Embolus

Pulmonary Emboli

Thrombocytopenia

Low Platelet Count

Low Platelets

Decreased Platelets

Platelet Dysfunction Nos

Carotid Artery Thrombosis
Chronic Cervicitis
Middle Ear Squamous Cell Carcinoma

Squamous Cell Carcinoma Of Middle Ear

Epidermoid Carcinoma Of The Middle Ear

Thrombocytopenia With Beta-Thalassemia, X-Linked

XLTT

Thrombocytopenia, Platelet Dysfunction, Hemolysis, And Imbalanced Globin Synthesis

Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome

Gata1-Related X-Linked Cytopenia

X-Linked Thrombocytopenia With Beta-Thalassemia

Thrombocytopenia Platelet Dysfunction Hemolysis And Imbalanced Globin Synthesis

Focal Epithelial Hyperplasia

Heck'S Disease

Heck Disease

Multifocal Epithelial Hyperplasia

Acquired Von Willebrand Syndrome

Acquired Von Willebrand Disease

Willebrand Disease, Acquired

Avws

Lipoprotein Quantitative Trait Locus

Coronary Artery Disease

Coronary Artery Anomaly

Coronary Artery Disease, Susceptibility To

Myocardial Ischemia

Congenital Anomaly Of Coronary Artery

Coronary Arteriosclerosis

Coronary Disease

Coronary Heart Disease

Coronary Artery Disorder

LPAQTL

Lpa Deficiency, Congenital

Coronary Artery Abnormality

Coronary Artery Anomaly, Congenital

Chd

Coronary Syndrome

Congenital Malformations Of Coronary Vessels

Malformation Of Coronary Vessels

Congenital Coronary Artery Anomaly

Congenital Coronary Artery Deformity

Congenital Coronary Artery Disorder

Abnormal Coronary Artery

Congenital Coronary Artery Malposition

Congenital Coronary Disease

Congenital Anomaly Of Coronary Arteries

Anogenital Venereal Wart

Genital Warts

Condylomata Acuminata

Anogenital Warts

Condyloma Acuminatum

Anogenital Human Papilloma Virus Infectious Disease

Genital Wart Virus Infectious Disease

Venereal Wart

Venereal Warts

Verrucae Anogenitales

Verrucae Genitales

Von Willebrand'S Disease

Von Willebrand Disease

Von Willebrand Disorder

Vascular Pseudohemophilia

Hereditary Von Willebrand Disease

Vwd

Vascular Hemophilia

Von Willebrand'S-Jurgens' Disease

Von Willebrand-Jrgens Disease

Von Willebrand Factor Deficiency

Von Willebrand Factor, Deficiency

Angiohemophilia

Von Willebrand'S Factor Deficiency

Von Willebrand Diseases

Factor Viii Deficiency With Vascular Defect

Vascular Haemophilia

Willebrand Jurgen Thrombopathy

Pseudohaemophilia

Minot-Von Willebrand-Jurgen Disease

Angiohaemophilia

Angiohaemophilia A

Angiohaemophilia B

Intracranial Thrombosis

Cerebral Thrombosis

Thrombosis Of Cerebral Veins

Cerebral Arterial Thrombosis

Von Willebrand Disease, Type 3

Von Willebrand Disease Type 3

VWD3

Von Willebrand'S Disease 3

Von Willebrand Disease Type Iii

Von Willebrand Disease, Type Iii

Vwd, Type 3

Vwd Type 3

Von Willebrand Disease 3

Von Willebrand Disease Recessive Form

Von Willebrand Factor Deficiency Type 3

Stroke, Ischemic

Cerebral Infarction

Stroke

Ischemic Stroke

Cerebrovascular Accident

Cerebral Infarction, Susceptibility To

Stroke, Ischemic, Susceptibility To

Cerebral Infarct

Ischemic Stroke, Susceptibility To

Stroke, Susceptibility To

Cva - Cerebral Infarction

ISCHSTR

Ischemic Cerebrovascular Accident

Tangier Disease

Analphalipoproteinemia

High Density Lipoprotein Deficiency, Tangier Type

TGD

High Density Lipoprotein Deficiency, Type 1

Hdldt1

Familial High Density Lipoprotein Deficiency

A-Alphalipoprotein Neuropathy

Alpha High Density Lipoprotein Deficiency Disease

Cholesterol Thesaurismosis

Familial High Density Lipoprotein Deficiency Disease

Hdl Lipoprotein Deficiency Disease

Tangier Disease Neuropathy

Familial Alpha-Lipoprotein Deficiency

Familial High-Density Lipoprotein Deficiency 1

Primary Hypoalphalipoproteinemia 1

Analphalipo-Proteinemia

Familial Hypoalphalipo-Proteinemia

Familial Hypoalphalipoproteinemia

Lipoprotein Deficiency Disease, Hdl, Familial

Tangier Hereditary Neuropathy

Atp-Binding Cassette Transporter A1 Deficiency

Hdld1

High Density Lipoprotein Deficiency 1

Tangier Disease, Variant

Hypoalphalipoproteinemia, Familial

Familial Hdl Deficiency

Bernard-Soulier Syndrome

Giant Platelet Syndrome

BSS

Von Willebrand Factor Receptor Deficiency

Bdplt1

Platelet Glycoprotein Ib Deficiency

Bernard-Soulier Syndrome, Type A1

Bernard-Soulier Syndrome, Type B

Bernard Soulier Syndrome

Deficiency Of Platelet Glycoprotein 1b

Hemorrhagiparous Thrombocytic Dystrophy

Bernard-Soulier Syndrome Type C

Bleeding Disorder, Platelet-Type, 1

Glycoprotein Ib, Platelet, Deficiency Of

Giant Platelet Disorder, Isolated

Giant Platelet Disease

Macrothrombocytopenia, Familial Bernard-Soulier Type

Bernard-Soulier Syndrome, Type C

Bernard - Soulier Thrombopathy

Hemorrhagic Dystrophic Thrombocytopenia

Thrombopathy, Bernard-Soulier

Platelet Glycoprotein 1b, Deficiency Of

Hemorrhagioparous Thrombocytic Dystrophy

Bernard-Soulier Syndrome Type A1

Bernard-Soulier Syndrome Type B

Bleeding Disorder Platelet-Type 1

Gpd

Macrothrombocytopenia, Familial, Bernard-Soulier Type

Glanzmann Thrombasthenia 1

Glanzmann Thrombasthenia

Thrombasthenia Of Glanzmann And Naegeli

Glanzmann'S Thrombasthenia

Bdplt2

Platelet Glycoprotein Iib-Iiia Deficiency

Deficiency Of Platelet Fibrinogen Receptor

GT1

Gt

Platelet Fibrinogen Receptor Deficiency

Glycoprotein Complex Iib-Iiia Deficiency

Deficiency Of Glycoprotein Complex Iib-Iiia

Glycoprotein Iib/Iiia Defect

Glanzmann Thrombasthenia, Type A

Thrombasthenia

Bleeding Disorder, Platelet-Type, 2

Gp Iib-Iiia Complex Deficiency

Deficiency Of Gp Iib-Iiia Complex

Platelet-Type Bleeding Disorder 2

Thrombocytasthenia

Deficiency Of Gp 2b 3a Complex

Diacyclothrombopathia 2b 3a

Glanzmann Thrombasthenia Type A

Platelet Fibrinogen Receptor, Deficiency Of

Platelet Glycoprotein 2b 3a Deficiency

Glanzmann Disease

Glanzmann-Naegeli Disorder

Hereditary Hemorrhagic Thrombasthenia

Hereditary Thrombasthenia

Bleeding Disorder Platelet-Type 2

Vascular Disease

Vascular Diseases

Aneurysm

Spinal Cord Ischemia

Vascular Anomaly

Spinal Cord Vascular Diseases

Vascular Tissue Disease

Scott Syndrome

SCTS

Bdplt7

Prothrombin Consumption Deficiency

Bleeding Abnormality Due To Deficiency Of Platelet Binding Of Factor X

Bleeding Disorder, Platelet-Type, 7

Prothrombin Conversion Defect, Familial

Prothrombin Consumption Inhibitor, Familial

Bleeding Abnormality Due To Deficiency Of Platelet Biding Of Factor X

Familial Prothrombin Consumption Inhibitor

Familial Prothrombin Conversion Defect

Platelet-Type Bleeding Disorder 7

Platelet Factor X Receptor Deficiency

Bleeding Disorder Platelet-Type 7

Prothrombin Consumption Inhibitor Familial

Prothrombin Conversion Defect Familial

Soft Palate Cancer

Malignant Tumor Of Soft Palate

Malignant Tumor Of The Soft Palate

Palate Cancer Soft Palate

Carotid Artery Occlusion

Occlusion And Stenosis Of Carotid Artery

Anus Cancer

Anal Cancer

Anal Carcinoma

Malignant Anal Tumor

Cancer Of The Anus

Malignant Neoplasm Of Anus

Anus Neoplasms

Occlusion Precerebral Artery

Occlusion And Stenosis Of Multiple And Bilateral Precerebral Arteries

Occlusion And Stenosis Of Precerebral Artery

Carotid Artery Disease

Carotid Artery Diseases

Disorder Of Carotid Artery

Thrombocytopenia Due To Platelet Alloimmunization

Immune Thrombocytopenia

Autoimmune Thrombocytopenia

Immune Thrombocytopenic Purpura

Itp

Auto-Immune Thrombocytopenia

Thrombocytopenia Due To Immune Destruction

Autoimmune Thrombocytopenic Purpura

Idiopathic Thrombocytopenic Purpura

Werlhof Disease

Blood Platelet Disease

Platelet Disorder

Blood Platelet Disorders

Thrombocytopathy

Platelet Dysfunction

Platelet Disorders

Qualitative Platelet Deficiency

Cervicitis

Uterine Cervicitis

Inflammation Of Cervix

Blood Coagulation Disease

Blood Coagulation Disorders

Coagulation Protein Disease

Inherited Blood Coagulation Disease

Postpartum Coagulation Defect

Postpartum Coagulation Defect With Delivery

Coagulation Protein Disorders

Puerperal Coagulopathy

Epidermodysplasia Verruciformis 1

Epidermodysplasia Verruciformis

Epidermodysplasia Verruciformis, Susceptibility To, 1

Lutz-Lewandowsky Epidermodysplasia Verruciformis

EV1

Lewandowsky-Lutz Syndrome

Ev

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
Canis familiaris GP6 VGNC VGNC:56919
Rattus norvegicus GP6 RGD RGD:1589130
Macaca mulatta GP6 VGNC VGNC:72942
Mus musculus GP6 MGD MGI:1889810
Macaca fascicularis GP6 NCBI NCBI:102118698
Others GP6 NCBI