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  2. EPHA2 - EPH receptor A2 Gene

EPHA2 - EPH receptor A2 Gene

中文名称:EPH 受体 A2

种属: Homo sapiens

同用名: ECK; CTPA; ARCC2; CTPP1; CTRCT6

基因 ID: 1969 | 基因类型: protein coding

关于 EPHA2

Cytogenetic location: 1p36.13 Genomic coordinates (GRCh38): 1:16,124,337-16,156,069 (from NCBI)

This gene has 4 transcripts (splice variants), 124 orthologues, 53 paralogues and is associated with 6 phenotypes. Broad expression in esophagus (RPKM 37.8), urinary bladder (RPKM 18.3) and 21 other tissues.

功能概要

该基因属于蛋白酪氨酸激酶家族的肝配蛋白受体亚家族。 EPH 和 EPH 相关受体与介导发育事件有关,特别是在神经系统中。 EPH 亚家族中的受体通常具有单个激酶结构域和一个含有富含半胱氨酸结构域和 2 个纤连蛋白 III 型重复序列的胞外区域。基于肝配蛋白受体胞外结构域序列的相似性及其结合肝配蛋白-A 和肝配蛋白-B 配体的亲和力,肝配蛋白受体分为 2 组。该基因编码一种结合 ephrin-A 配体的蛋白质。该基因的突变是某些遗传相关白内障疾病的原因。[RefSeq 提供,2010 年 5 月]

This gene belongs to the Ephrin Receptor subfamily of the protein-tyrosine kinase family. EPH and EPH-related receptors have been implicated in mediating developmental events, particularly in the nervous system. Receptors in the EPH subfamily typically have a single kinase domain and an extracellular region containing a Cys-rich domain and 2 fibronectin type III repeats. The ephrin receptors are divided into 2 groups based on the similarity of their extracellular domain sequences and their affinities for binding ephrin-A and ephrin-B ligands. This gene encodes a protein that binds ephrin-A ligands. Mutations in this gene are the cause of certain genetically-related cataract disorders.[provided by RefSeq, May 2010]

EPHA2 基因产物(2)

mRNA Protein Name
NM_001329090.2 NP_001316019.1 ephrin type-A receptor 2 isoform 2
NM_004431.5 NP_004422.2 ephrin type-A receptor 2 isoform 1 precursor
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables growth factor binding IPI
IPI: 通过物理相互作用推断
22568954 GOA
enables molecular function activator activity EXP
EXP: 通过实验结果推断
12467573 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
10655584 GOA
enables transmembrane receptor protein tyrosine kinase activity IDA
IDA: 通过直接分析推断
10655584 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in activation of GTPase activity IMP
IMP: 通过突变表型推断
20679435 GOA
involved in cAMP metabolic process IMP
IMP: 通过突变表型推断
27385333 GOA
involved in cell chemotaxis IMP
IMP: 通过突变表型推断
19573808 GOA
involved in cell migration IMP
IMP: 通过突变表型推断
23358419 GOA
involved in cell motility IMP
IMP: 通过突变表型推断
26158630 GOA
involved in ephrin receptor signaling pathway IDA
IDA: 通过直接分析推断
10655584 GOA
involved in intrinsic apoptotic signaling pathway in response to DNA damage IDA
IDA: 通过直接分析推断
18339848 GOA
involved in keratinocyte differentiation IMP
IMP: 通过突变表型推断
20861311 GOA
involved in positive regulation of bicellular tight junction assembly IMP
IMP: 通过突变表型推断
27815408 GOA
involved in positive regulation of cell migration IDA
IDA: 通过直接分析推断
24002999 GOA
involved in positive regulation of protein localization to plasma membrane IMP
IMP: 通过突变表型推断
20679435 GOA
involved in protein localization to plasma membrane IMP
IMP: 通过突变表型推断
27815408 GOA
involved in regulation of ERK1 and ERK2 cascade IMP
IMP: 通过突变表型推断
20861311 GOA
involved in regulation of cell adhesion mediated by integrin IDA
IDA: 通过直接分析推断
10655584 GOA
involved in regulation of lamellipodium assembly IMP
IMP: 通过突变表型推断
19573808 GOA
involved in response to growth factor IMP
IMP: 通过突变表型推断
19573808 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cell surface IDA
IDA: 通过直接分析推断
25063885 GOA
located in focal adhesion IDA
IDA: 通过直接分析推断
10655584 GOA
located in lamellipodium IDA
IDA: 通过直接分析推断
26158630 GOA
located in leading edge membrane IDA
IDA: 通过直接分析推断
19573808 GOA
located in plasma membrane IDA
IDA: 通过直接分析推断
10655584 GOA
located in tight junction IDA
IDA: 通过直接分析推断
27815408 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

EPHA2 蛋白结构

Ephrin_lbd

Ephrin_lbd: Ephrin receptor ligand binding domain (28 - 201)

fn3

fn3: Fibronectin type III domain (330 - 419)

fn3

fn3: Fibronectin type III domain (438 - 519)

EphA2_TM

EphA2_TM: Ephrin type-A receptor 2 transmembrane domain (537 - 609)

Pkinase_Tyr

Pkinase_Tyr: Protein tyrosine kinase (614 - 871)

SAM_1

SAM_1: SAM domain (Sterile alpha motif) (904 - 966)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 976 a.a.
蛋白主名 其他名称

ephrin type-A receptor 2

epithelial cell receptor protein tyrosine kinase

重组 EPHA2 蛋白

目录号 产品名 蛋白编号 纯度
HY-P70336 EphA2 Protein, Human (HEK293, His) P29317/NP_004422.2 (A24-N534) ≥95%
HY-P72991 EphA2 Protein, Human (sf9, His-GST) P29317 (L585-I976) ≥95%
HY-P72992 EphA2 Protein, Human (Biotinylated, HEK293, His-Avi) NP_004422.2 (A24-N534) ≥95%

关联疾病

疾病名称 别名
Cataract 6, Multiple Types

Ctpp1

Cataract 6 Multiple Types

CTRCT6

Cataract, Posterior Polar, 1

Arcc2

Cataract, Age-Related Cortical, 2

Ctpa

Ctpp

Age Related Cortical Cataract 2

Posterior Polar Cataract 1

Posterior Polar Cataract, 1

Age-Related Cortical Cataract 2

Cataract Posterior Polar 1

Cataract

Cataracts

Cat - [Cataract]

Cataract Form

Lens Opacity

Lens Opacities

Aniridia 1

Aniridia

Congenital Aniridia

AN1

An

Cataract With Late-Onset Corneal Dystrophy

Aplasia Of Iris

Absent Iris

Irideremia

Aniridia Ii, Formerly

An2, Formerly

An2

Aniridia Type Ii

Aniridia, Type 1

An-1

Absence Of Iris

Agenesis Of Iris

Congenital Absence Of Iris

Hereditary Aniridia

Sporadic Aniridia

Early-Onset Posterior Subcapsular Cataract
Early-Onset Posterior Polar Cataract
Cataract 44

CTRCT44

Total Early-Onset Cataract

Cataract 44 And Hypotrichosis

Cataract And Hypotrichosis

Cataract, Type 44

Early-Onset Nuclear Cataract
Cortical Senile Cataract
Posterior Polar Cataract

Cataract, Posterior Polar

Lung Squamous Cell Carcinoma

Squamous Cell Carcinoma Of Lung

Squamous Cell Lung Carcinoma

Epidermoid Cell Carcinoma Of The Lung

Squamous Cell Lung Cancer

Squamous Cell Carcinoma

Epidermoid Carcinoma

Squamous Cell Cancer

Carcinoma, Squamous Cell

Squamous Cell Skin Cancer

Malignant Squamous Cell Tumor

Squamous Carcinoma

Squamous Cell Epithelioma

Carcinoma Squamous Cell

Neoplasms, Squamous Cell

Squamous Cell Carcinoma - Category

Malignant Squamous Cell Neoplasm

Squamous Cell Carcinoma Of Skin

Pancreatic Adenocarcinoma

Adenocarcinoma Of The Pancreas

Adenocarcinoma Of Pancreas

Pancreas Adenocarcinoma

Malignant Exocrine Neoplasm

Primary Pancreatic Adenocarcinoma

Adenocarcinoma Of Islet Cell Of Pancreas

Islet Cell Adenocarcinoma Of Unspecified Site

Mixed Adenocarcinoma Islet Cell With Exocrine Of Unspecified Site

Adenocarcinoma

Adenocarcinomas

Adenoacanthoma Of Unspecified Site

Adenocarcinoid Of Unspecified Site

Adenocarcinoid Tumour Of Unspecified Site

Adenocarcinoma And Carcinoid Combined Of Unspecified Site

Adenocarcinoma Nos

Glioma
Pendred Syndrome

Goiter-Deafness Syndrome

Deafness With Goiter

PDS

Thyroid Dyshormonogenesis 2b

Tdh2b

Autosomal Recessive Sensorineural Hearing Impairment And Goiter

Pendred'S Syndrome

Thyroid Hormonogenesis, Genetic Defect In, 2b

Hypothyroidism, Congenital, Due To Dyshormonogenesis, 2b

Congenital Hypothyroidism Due To Dyshormonogenesis 2b

Genetic Defect In Thyroid Hormonogenesis 2b

Autosomal Recessive Sensorineural Hearing Impairment, Enlarged Vestibular Aqueduct, And Goiter

Goiter-Hearing Loss Syndrome

Goitre-Deafness Syndrome

Goitre Deafness

Ovarian Cancer

Ovarian Carcinoma

Ovarian Neoplasm

Malignant Tumour Of Ovary

Cancer Of The Ovary

Epithelial Ovarian Cancer

Neoplasm Of Ovary

Ovarian Neoplasms

Ovarian Cancers

Malignant Neoplasm Of Ovary

Primary Malignant Neoplasm Of Ovary

Ovarian Cancer, Somatic

Malignant Ovarian Tumor

Ovary Neoplasm

Primary Ovarian Cancer

Tumor Of The Ovary

Malignant Neoplasm Of The Ovary

Malignant Tumor Of The Ovary

Ovarian Malignant Tumor

OC

Ovarian Carcinomas

Cancer, Ovarian

Cancer Of Ovary

Ovary Cancer

Ca Ovary

Colorectal Cancer

Colon Cancer

Colorectal Carcinoma

Colon Carcinoma

Colorectal Cancer, Susceptibility To

Carcinoma Of Colon

CRC

Colorectal Cancer With Chromosomal Instability, Somatic

Colon Cancer, Somatic

Colon Cancer, Susceptibility To

Colonic Neoplasms

Colorectal Neoplasms

Colorectal Cancer, Somatic

Colon Cancer, Advanced, Somatic

Colonic Carcinoma

Colorectal Carcinomas

Colon Cancers

Colorectal Cancers

Cancer, Colorectal, Somatic

Cancer, Colon

Cancer, Colorectal, Susceptibility To

Colorectal Neoplasm

Colonic Neoplasm

Malignant Tumor Of Colon

Melanoma

Malignant Melanoma

Cutaneous Melanoma

Naevocarcinoma

Malignant Melanomas

Glioblastoma

Glioblastoma Multiforme

Gbm

Adult Glioblastoma Multiforme

Grade Iv Adult Astrocytic Tumor

Primary Glioblastoma Multiforme

Spongioblastoma Multiforme

Adult Glioblastoma

Primary Glioblastoma

Cataract 7

Cca1

CTRCT7

Cerulean Cataract

Cataract 7, Cerulean Type

Cataract, Congenital, Cerulean Type, 1

Cerulean Type Cataract 7

Congenital Cerulean Type Cataract 1

Cataract, Congenital, Blue Dot Type 1

Cataract, Congenital, Cerulean Type 1

Blue-Dot Cataract

Lung Cancer

Lung Carcinoma

Non-Small Cell Lung Carcinoma

Lung Cancer, Susceptibility To

Lung Cancer, Protection Against

Adenocarcinoma Of Lung, Somatic

Adenocarcinoma Of Lung, Response To Tyrosine Kinase Inhibitor In

Nonsmall Cell Lung Cancer

Lung Neoplasm

Carcinoma Of Lung

Lung Non-Small Cell Carcinoma

Non-Small Cell Lung Cancer

Nsclc

Lung Neoplasms

Malignant Neoplasm Of Lung

Alveolar Cell Carcinoma

Nonsmall Cell Lung Cancer, Somatic

Nonsmall Cell Lung Cancer, Response To Tyrosine Kinase Inhibitor In

Nonsmall Cell Lung Cancer, Susceptibility To

Lung Cancer, Somatic

Lung Cancer, Resistance To

Cancer Of Lung

Cancer Of Bronchus

Cancer Of The Lung

Lung Malignancies

Lung Malignant Tumors

Malignant Lung Tumor

Malignant Tumor Of Lung

Pulmonary Cancer

Pulmonary Carcinoma

Pulmonary Neoplasms

Respiratory Carcinoma

LNCR

Adenocarcinoma Of Lung

Neoplasm Of Lung

Cancer Lung

Carcinoma Non-Small Cell Lung

Carcinoma, Non-Small-Cell Lung

Lung Cancers

Lung Carcinomas

Cancer, Lung

Cancer, Lung, Non-Small Cell

Primary Malignant Neoplasm Of Lung

Bronchioloalveolar Adenocarcinoma

Breast Cancer

Breast Carcinoma

Male Breast Cancer

Breast Cancer, Familial

Malignant Neoplasm Of Breast

Breast Cancer, Susceptibility To

Breast Cancer, Early-Onset

Malignant Tumor Of Breast

Carcinoma Of Male Breast

Breast Cancer, Invasive Ductal

Breast Cancer, Protection Against

Breast Cancer, Somatic

Breast Cancer, Male

Breast Cancer, Lobular, Somatic

Breast Tumor

Mammary Cancer

Mammary Tumor

Malignant Neoplasm Of Male Breast

Mammary Carcinoma

Male Breast Carcinoma

Familial Cancer Of Breast

Invasive Ductal Breast Carcinoma

Breast Cancer Susceptibility

Breast Cancer, Male, Susceptibility To

Breast Cancer, Early-Onset, Susceptibility To

Malignant Tumor Of The Breast

Mammary Neoplasm

Primary Breast Cancer

Neoplasm Of Male Breast

Carcinoma Of Breast

Breast Cancer In Men

Familial Breast Cancer

Cancer Of Breast

BC

Breast Cancer Familial

Breast Cancer Familial Male

Breast Cancer, Familial Male

Breast Male Carcinoma

Breast Neoplasms

Breast Neoplasms, Male

Mammary Tumors

Mammary Carcinomas

Cancer, Breast

Cancer, Breast, Susceptibility

Invasive Breast Ductal Carcinoma

Breast Neoplasm

Susceptibility To Breast Cancer

Mammary Neoplasms

Animal Mammary Neoplasms

Primary Malignant Neoplasm Of Breast

Infiltrating Ductal Carcinoma Of Breast

Infiltrating Duct Carcinoma Of Unspecified Site

Infiltrating Ductular Carcinoma Of Unspecified Site

Invasive Breast Carcinoma Of No Special Type

Microinvasive Carcinoma Of Breast

Carcinoma With Apocrine Differentiation

Prostate Cancer

Prostate Carcinoma

Prostate Cancer, Familial

Prostate Neoplasm

Prostate Cancer, Somatic

Prostate Cancer, Susceptibility To

Prostatic Cancer

Prostatic Neoplasms

Hereditary Prostate Cancer

Prostatic Neoplasm

Cancer Of Prostate

Carcinoma Of Prostate

Familial Prostate Cancer

Familial Prostate Carcinoma

Malignant Tumor Of Prostate

Malignant Neoplasm Of Prostate

Prostate Cancer, Familial, Susceptibility To

Malignant Tumor Of The Prostate

Ngp - New Growth Of Prostate

Tumor Of The Prostate

Prostate Cancer, Hereditary

Cancer Of The Prostate

Malignant Neoplasm Of The Prostate

Prostatic Carcinoma

PC

Prca

Cancer, Prostate

Malignant Prostatic Tumour

Malignant Tumour Of Prostate

Primary Prostate Cancer

Primary Malignant Neoplasm Of Prostate

Prostate Gland Cancer

Renal Cell Carcinoma, Nonpapillary

Renal Cell Carcinoma

RCC

Nonpapillary Renal Cell Carcinoma

Clear Cell Renal Cell Carcinoma

Hypernephroma

Adenocarcinoma Of Kidney

Renal Carcinoma, Chromophobe, Somatic

Clear Cell Carcinoma Of Kidney

Clear-Cell Metastatic Renal Cell Carcinoma

Clear Cell Renal Carcinoma

Renal Cell Carcinoma, Somatic

Conventional Renal Cell Carcinoma

Conventional Renal Cell Carcinoma

Renal Clear Cell Carcinoma

Ccrcc

Hereditary Clear Cell Renal Cell Carcinoma

Carcinoma, Renal Cell

Renal Cell Carcinoma, Clear Cell, Somatic

Renal Cell Carcinoma, Clear Cell

Clear Cell Kidney Carcinoma

Clear Cell Rcc

Cystic-Multilocular Variant

Clear Cell Renal Cell Adenocarcinoma

Hereditary Clear Cell Renal Cell Adenocarcinoma

Common Renal Cell Carcinoma

Crcc

Renal Cell Carcinoma Non-Papillary

Carcinoma Renal Cell

Renal Cell Cancer

Carcinoma, Renal Cell, Nonpapillary

Gliosarcoma

Glioblastoma With Sarcomatous Component

Sarcomatous Glioblastoma

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
Bos taurus EPHA2 VGNC VGNC:28534
Mus musculus EPHA2 MGD MGI:95278
Rattus norvegicus EPHA2 RGD RGD:1307204
Canis familiaris EPHA2 VGNC VGNC:40405
Macaca mulatta EPHA2 VGNC VGNC:72235
Felis catus EPHA2 VGNC VGNC:61902
Macaca fascicularis EPHA2 NCBI NCBI:102146108
Others EPHA2 NCBI