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  2. EPHA4 - EPH receptor A4 Gene

EPHA4 - EPH receptor A4 Gene

中文名称:EPH 受体 A4

种属: Homo sapiens

同用名: EK8; SEK; HEK8; TYRO1

基因 ID: 2043 | 基因类型: protein coding

关于 EPHA4

Cytogenetic location: 2q36.1 Genomic coordinates (GRCh38): 2:221,418,027-221,574,202 (from NCBI)

This gene has 14 transcripts (splice variants), 235 orthologues, 53 paralogues and is associated with 1 phenotype. Broad expression in brain (RPKM 16.1), testis (RPKM 9.3) and 17 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。已发现该基因编码不同异构体的多个转录变体。[RefSeq 提供,2015 年 1 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. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2015]

EPHA4 基因产物(4)

mRNA Protein Name
NM_001304536.2 NP_001291465.1 ephrin type-A receptor 4 isoform a precursor
NM_001304537.2 NP_001291466.1 ephrin type-A receptor 4 isoform b
NM_001363748.2 NP_001350677.1 ephrin type-A receptor 4 isoform c precursor
NM_004438.5 NP_004429.1 ephrin type-A receptor 4 isoform a precursor
基因本体论
  • 分子功能
  • 生物过程
分子功能 GO 注释 逻辑证据 参考文献 来源
enables DH domain binding IDA
IDA: 通过直接分析推断
12775584 GOA
enables PH domain binding IPI
IPI: 通过物理相互作用推断
12775584 GOA
enables kinase activity IGI
IGI: 通过遗传相互作用推断
24217950 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
12775584 GOA
enables protein kinase activity IDA
IDA: 通过直接分析推断
12775584 GOA
enables protein tyrosine kinase binding IPI
IPI: 通过物理相互作用推断
24217950 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in ephrin receptor signaling pathway IGI
IGI: 通过遗传相互作用推断
24217950 GOA
involved in negative regulation of ERK1 and ERK2 cascade IDA
IDA: 通过直接分析推断
29093007 GOA
involved in negative regulation of cell adhesion IMP
IMP: 通过突变表型推断
29093007 GOA
involved in negative regulation of cell migration IMP
IMP: 通过突变表型推断
22996586 GOA
acts upstream of or within negative regulation of cellular response to hypoxia IMP
IMP: 通过突变表型推断
31150684 GOA
involved in negative regulation of epithelial to mesenchymal transition IMP
IMP: 通过突变表型推断
29093007 GOA
involved in negative regulation of proteolysis involved in protein catabolic process IGI
IGI: 通过遗传相互作用推断
24217950 GOA
involved in peptidyl-tyrosine phosphorylation IDA
IDA: 通过直接分析推断
12775584 GOA
involved in positive regulation of Rho guanyl-nucleotide exchange factor activity IDA
IDA: 通过直接分析推断
12775584 GOA
involved in positive regulation of amyloid-beta formation IGI
IGI: 通过遗传相互作用推断
24217950 GOA
involved in positive regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process IGI
IGI: 通过遗传相互作用推断
24217950 GOA
involved in positive regulation of cell adhesion IMP
IMP: 通过突变表型推断
22996586 GOA
involved in positive regulation of cell migration IDA
IDA: 通过直接分析推断
28795314 GOA
involved in positive regulation of cell population proliferation IGI
IGI: 通过遗传相互作用推断
28795314 GOA
involved in protein autophosphorylation IDA
IDA: 通过直接分析推断
12775584 GOA
involved in protein stabilization IGI
IGI: 通过遗传相互作用推断
24217950 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

EPHA4 蛋白结构

Ephrin_lbd

Ephrin_lbd: Ephrin receptor ligand binding domain (30 - 204)

fn3

fn3: Fibronectin type III domain (330 - 420)

fn3

fn3: Fibronectin type III domain (446 - 525)

EphA2_TM

EphA2_TM: Ephrin type-A receptor 2 transmembrane domain (549 - 618)

Pkinase_Tyr

Pkinase_Tyr: Protein tyrosine kinase (621 - 878)

SAM_2

SAM_2: SAM domain (Sterile alpha motif) (909 - 973)

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

ephrin type-A receptor 4

EPH-like kinase 8

重组 EPHA4 蛋白

目录号 产品名 蛋白编号 纯度
HY-P70382 EphA4 Protein, Human (HEK293) P54764-1 (V20-T547) ≥95%
HY-P72994 EphA4 Protein, Human (HEK293, His-Fc) P54764-1/NP_004429.1 (V20-T547) ≥95%
HY-P72993 EphA4 Protein, Human (sf9, His-GST) P54764-1 (S570-V986) ≥95%

关联疾病

疾病名称 别名
Amyotrophic Lateral Sclerosis 1

Amyotrophic Lateral Sclerosis

ALS

Lou Gehrig Disease

Amyotrophic Lateral Sclerosis Type 1

Charcot Disease

ALS1

Amyotrophic Lateral Sclerosis, Susceptibility To

Fals

Lou Gehrig'S Disease

Mnd

Motor Neuron Disease

Familial Amyotrophic Lateral Sclerosis

Amyotrophic Lateral Sclerosis 1, Familial

Amyotrophic Lateral Sclerosis 1, Autosomal Dominant

Motor Neuron Disease, Bulbar

Motor Neurone Disease

Amyotrophic Lateral Sclerosis With Dementia

Dementia With Amyotrophic Lateral Sclerosis

Motor Neuron Disease, Amyotrophic Lateral Sclerosis

Sclerosis, Lateral, Amyotrophic

Sclerosis, Lateral, Amyotrophic, Type 1

Amyotrophic Sclerosis

Als - [Amyotrophic Lateral Sclerosis]

Wasting Palsy

Amyotrophic Paralysis

Amyotrophy Lateral Sclerosis

Wasting Paralysis

Spinal Progressive Amyotrophy

Progressive Atrophic Paralysis

Duane Retraction Syndrome

Stilling-Turk-Duane Syndrome

Duane'S Syndrome

Duane Syndrome

Isolated Duane Retraction Syndrome

Co-Contractive Retraction Syndrome

Duane Anomaly, Isolated

Ocular Retraction Syndrome

Drs

Durs

Spondylocostal Dysostosis

Jarcho-Levin Syndrome

Costovertebral Dysplasia

Spondylothoracic Dysostosis

Spondylothoracic Dysplasia

Scdo

Dysostosis, Spondylocostal

Staphyloenterotoxemia

Staphylococcal Food Poisoning

Staphylococcal Toxaemia Due To Food

Staphyloenterotoxicosis

Dysostosis

Dysostoses

Craniofrontonasal Syndrome

Craniofrontonasal Dysplasia

CFNS

Cfnd

Craniofrontonasal Dysostosis

Craniofrontonasal Dystosis

Dysplasia, Craniofrontonasal

Craniosynostosis

Premature Closure Of Cranial Sutures

Craniostenosis

Craniosynostosis Syndrome

Cso

Craniosynostoses

Congenital Ossification Of Cranial Sutures

Congenital Ossification Of Sutures Of Skull

Craniostosis

Imperfect Fusion Of Skull

Congenital Imperfect Closure Skull

Imperfect Closure Skull

Premature Closure Cranium Sutures

Deficiency Of Craniofacial Axis

Fragile X Syndrome

FXS

Martin-Bell Syndrome

Fraxa Syndrome

Marker X Syndrome

X-Linked Mental Retardation And Macroorchidism

Fragile X Mental Retardation Syndrome

Fra Syndrome

Mental Retardation, X-Linked, Associated With Marxq28

X-Linked Intellectual Disability And Macroorchidism

Frax Syndrome

Symptomatic Form Of Fragile X Syndrome In Female Carriers

Fragile-X Syndrome

Fraxe Syndrome

Commensal Bacterial Infectious Disease
Deafness, X-Linked 2

Progressive Deafness With Stapes Fixation

DFNX2

Dfn3

Nance Deafness

Perilymphatic Gusher-Deafness Syndrome

Stapedo-Vestibular Ankylosis

Sensorineural Deafness, Profound, With Or Without A Conductive Component, Associated With A Unique Developmental Abnormality Of The Ear

X-Linked Deafness 2

X-Linked Mixed Conductive And Neurosensory Deafness

X-Linked Mixed Conductive And Sensorineural Deafness

Deafness 3 Conductive With Stapes Fixation

Deafness Conductive With Stapes Fixation

Deafness Mixed With Perilymphatic Gusher

Thies-Reis Syndrome

Deafness, Conductive, With Stapes Fixation

Deafness 3, Conductive, With Stapes Fixation

Deafness, Mixed, With Perilymphatic Gusher

Conductive Deafness 3 With Stapes Fixation

Conductive Deafness With Stapes Fixation

Mixed Deafness With Perilymphatic Gusher

X-Linked Deafness Type 2

X-Linked Mixed Conductive And Neurosensory Hearing Loss

X-Linked Mixed Conductive And Sensorineural Hearing Loss

X-Linked Sensorineural Deafness

X-Linked Stapes Gusher Syndrome

Deafness Mixed With Perilymphatic Gusher, X-Linked

Dfn 3 Nonsyndromic Hearing Loss And Deafness

Gusher Syndrome

Thies Reis Syndrome

Progressive Hearing Loss With Stapes Fixation

Deafness, X-Linked, 2

Deafness Mixed With Perilymph Gusher X-Linked

Deafness, X-Linked, Type 2

Progressive Hearing Loss Stapes Fixation

Charcot-Marie-Tooth Disease, Axonal, Type 2dd

CMT2DD

Charcot-Marie-Tooth Neuropathy, Type 2dd

Charcot-Marie-Tooth Disease Type 2dd

Atp1a1-Related Autosomal Dominant Charcot-Marie-Tooth Disease Type 2

Atp1a1-Related Cmt2

Autosomal Dominant Charcot-Marie-Tooth Disease Type 2dd

Charcot-Marie-Tooth Disease 2dd

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 EPHA4 MGD MGI:98277
Bos taurus EPHA4 VGNC VGNC:56106
Canis familiaris EPHA4 VGNC VGNC:40407
Macaca mulatta EPHA4 VGNC VGNC:72237
Rattus norvegicus EPHA4 RGD RGD:1560587
Felis catus EPHA4 VGNC VGNC:61904
Others EPHA4 NCBI