EPHA4 - EPH receptor A4 Gene

Homo sapiens

Also known as EK8; SEK; HEK8; TYRO1

Gene ID: 2043 | Gene type: protein coding

About 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.

Summary

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 Products(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

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	Reference	Source
enables DH domain binding	IDA IDA: Inferred from direct assay	12775584	GOA
enables PH domain binding	IPI IPI: Inferred from physical interaction	12775584	GOA
enables kinase activity	IGI IGI: Inferred from genetic interaction	24217950	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	12775584	GOA
enables protein kinase activity	IDA IDA: Inferred from direct assay	12775584	GOA
enables protein tyrosine kinase binding	IPI IPI: Inferred from physical interaction	24217950	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in ephrin receptor signaling pathway	IGI IGI: Inferred from genetic interaction	24217950	GOA
involved in negative regulation of ERK1 and ERK2 cascade	IDA IDA: Inferred from direct assay	29093007	GOA
involved in negative regulation of cell adhesion	IMP IMP: Inferred from mutant phenotype	29093007	GOA
involved in negative regulation of cell migration	IMP IMP: Inferred from mutant phenotype	22996586	GOA
acts upstream of or within negative regulation of cellular response to hypoxia	IMP IMP: Inferred from mutant phenotype	31150684	GOA
involved in negative regulation of epithelial to mesenchymal transition	IMP IMP: Inferred from mutant phenotype	29093007	GOA
involved in negative regulation of proteolysis involved in protein catabolic process	IGI IGI: Inferred from genetic interaction	24217950	GOA
involved in peptidyl-tyrosine phosphorylation	IDA IDA: Inferred from direct assay	12775584	GOA
involved in positive regulation of Rho guanyl-nucleotide exchange factor activity	IDA IDA: Inferred from direct assay	12775584	GOA
involved in positive regulation of amyloid-beta formation	IGI IGI: Inferred from genetic interaction	24217950	GOA
involved in positive regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process	IGI IGI: Inferred from genetic interaction	24217950	GOA
involved in positive regulation of cell adhesion	IMP IMP: Inferred from mutant phenotype	22996586	GOA
involved in positive regulation of cell migration	IDA IDA: Inferred from direct assay	28795314	GOA
involved in positive regulation of cell population proliferation	IGI IGI: Inferred from genetic interaction	28795314	GOA
involved in protein autophosphorylation	IDA IDA: Inferred from direct assay	12775584	GOA
involved in protein stabilization	IGI IGI: Inferred from genetic interaction	24217950	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

EPHA4 Protein Structure

Ephrin_lbd

fn3

EphA2_TM

Pkinase_Tyr

SAM_2

0
200
400
600
800
986 a.a.

Protein Preferred Names

Protein Names

ephrin type-A receptor 4

EPH-like kinase 8

Recombinant EPHA4 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P70382	EphA4 Protein, Human (HEK293)	P54764-1 (V20-T547)	≥95%
HY-P72993	EphA4 Protein, Human (sf9, His-GST)	P54764-1 (S570-V986)	≥95%
HY-P72994	EphA4 Protein, Human (HEK293, His-Fc)	P54764-1/NP_004429.1 (V20-T547)	≥95%

Related Diseases

Diseases

Alias

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

Diseases	Alias
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

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-159174	EPHA2/A4/GAK-IN-1	Inhibitor	/	Unkown

Orthologs Information

Species	Symbol	Source	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

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