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 ep... See more...

Aliases for EPHA4 Gene

Aliases for EPHA4 Gene

  • EPH Receptor A4 2 3 5
  • HEK8 3 4 4
  • Tyrosine-Protein Kinase Receptor SEK 3 4
  • Tyrosine-Protein Kinase TYRO1 3 4
  • Ephrin Type-A Receptor 4 3 4
  • EPH-Like Kinase 8 3 4
  • EC 2.7.10.1 4 52
  • TYRO1 3 4
  • EK8 3 4
  • SEK 3 4
  • Receptor Protein-Tyrosine Kinase HEK8 3
  • TYRO1 Protein Tyrosine Kinase 3
  • EC 2.7.10 52
  • EphA4 2

External Ids for EPHA4 Gene

Previous HGNC Symbols for EPHA4 Gene

  • TYRO1

Previous GeneCards Identifiers for EPHA4 Gene

  • GC02M220313
  • GC02M221011
  • GC02M222248
  • GC02M222492
  • GC02M222108
  • GC02M221990
  • GC02M214137

Summaries for EPHA4 Gene

Entrez Gene Summary for EPHA4 Gene

  • 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]

GeneCards Summary for EPHA4 Gene

EPHA4 (EPH Receptor A4) is a Protein Coding gene. Diseases associated with EPHA4 include Amyotrophic Lateral Sclerosis 1 and Duane Retraction Syndrome. Among its related pathways are G-protein signaling_RhoA regulation pathway and ERK Signaling. Gene Ontology (GO) annotations related to this gene include identical protein binding and protein kinase activity. An important paralog of this gene is EPHA5.

UniProtKB/Swiss-Prot Summary for EPHA4 Gene

  • Receptor tyrosine kinase which binds membrane-bound ephrin family ligands residing on adjacent cells, leading to contact-dependent bidirectional signaling into neighboring cells. The signaling pathway downstream of the receptor is referred to as forward signaling while the signaling pathway downstream of the ephrin ligand is referred to as reverse signaling. Highly promiscuous, it has the unique property among Eph receptors to bind and to be physiologically activated by both GPI-anchored ephrin-A and transmembrane ephrin-B ligands including EFNA1 and EFNB3. Upon activation by ephrin ligands, modulates cell morphology and integrin-dependent cell adhesion through regulation of the Rac, Rap and Rho GTPases activity. Plays an important role in the development of the nervous system controlling different steps of axonal guidance including the establishment of the corticospinal projections. May also control the segregation of motor and sensory axons during neuromuscular circuit development. In addition to its role in axonal guidance plays a role in synaptic plasticity. Activated by EFNA1 phosphorylates CDK5 at 'Tyr-15' which in turn phosphorylates NGEF regulating RHOA and dendritic spine morphogenesis. In the nervous system, plays also a role in repair after injury preventing axonal regeneration and in angiogenesis playing a role in central nervous system vascular formation. Additionally, its promiscuity makes it available to participate in a variety of cell-cell signaling regulating for instance the development of the thymic epithelium. During development of the cochlear organ of Corti, regulates pillar cell separation by forming a ternary complex with ADAM10 and CADH1 which facilitates the cleavage of CADH1 by ADAM10 and disruption of adherens junctions (By similarity).

Tocris Summary for EPHA4 Gene

  • Eph receptors are the largest family of receptor tyrosine kinases (RTKs) and are divided into two subclasses, EphA and EphB. Originally identified as mediators of axon guidance, Eph receptors are implicated in many processes, particularly cancer development and progression.

Gene Wiki entry for EPHA4 Gene

Additional gene information for EPHA4 Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for EPHA4 Gene

Genomics for EPHA4 Gene

GeneHancer (GH) Regulatory Elements for EPHA4 Gene

Promoters and enhancers for EPHA4 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02J221567 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 509.1 +3.4 3361 7.5 EP300 CTCF SP1 PHF8 ZFX ZIC2 POLR2A ZBTB26 SAP30 RFX1 EPHA4 ENSG00000272944 TMEM256P2 lnc-CCDC140-11
GH02J221516 Enhancer 1.3 FANTOM5 ENCODE dbSUPER 4.3 +55.3 55291 4.9 CTCF FOS EP300 TRIM28 OSR2 BCL11A NR2F2 TCF12 ZNF263 SRF EPHA4 HE856011 lnc-CCDC140-11 TMEM256P2
GH02J221500 Enhancer 0.9 Ensembl ENCODE 5.8 +71.6 71601 3.6 EP300 ZSCAN5C FOXA1 ZNF423 TRIM28 ATF2 ZNF341 OSR2 TCF7L2 OVOL3 EPHA4 HE856011 AY194155
GH02J221527 Enhancer 1 FANTOM5 ENCODE dbSUPER 3.9 +45.0 44964 4.2 FOS ZIC2 TRIM28 ZNF341 ZFHX2 IKZF3 PRDM6 TOE1 GLIS1 JUN EPHA4 TMEM256P2 lnc-CCDC140-11 HE856011
GH02J221447 Enhancer 0.6 Ensembl 4.9 +125.8 125794 2.8 USF1 TEAD4 OSR2 TCF7L2 GATA3 KLF9 FOXA1 ZNF843 PRDM6 TRIM28 EPHA4 AY194155 HE856011
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around EPHA4 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for EPHA4

Top Transcription factor binding sites by QIAGEN in the EPHA4 gene promoter:
  • FOXC1
  • Nkx3-1
  • Nkx3-1 v1
  • Nkx3-1 v2
  • Nkx3-1 v3
  • Nkx3-1 v4
  • Sox5
  • STAT1
  • STAT3

Genomic Locations for EPHA4 Gene

Genomic Locations for EPHA4 Gene
chr2:221,418,027-221,574,202
(GRCh38/hg38)
Size:
156,176 bases
Orientation:
Minus strand
chr2:222,282,747-222,438,922
(GRCh37/hg19)
Size:
156,176 bases
Orientation:
Minus strand

Genomic View for EPHA4 Gene

Genes around EPHA4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EPHA4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for EPHA4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EPHA4 Gene

Proteins for EPHA4 Gene

  • Protein details for EPHA4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P54764-EPHA4_HUMAN
    Recommended name:
    Ephrin type-A receptor 4
    Protein Accession:
    P54764
    Secondary Accessions:
    • A8K2P1
    • B2R601
    • B7Z6Q8
    • Q2M380

    Protein attributes for EPHA4 Gene

    Size:
    986 amino acids
    Molecular mass:
    109860 Da
    Quaternary structure:
    • Heterotetramer upon binding of the ligand. The heterotetramer is composed of an ephrin dimer and a receptor dimer. Oligomerization is probably required to induce biological responses. Interacts (phosphorylated at position Tyr-602) with FYN. Interacts with CDK5, CDK5R1 and NGEF; upon activation by EFNA1 induces NGEF phosphorylation by the kinase CDK5. Interacts with CHN1; effector of EPHA4 in axon guidance linking EPHA4 activation to RAC1 regulation (By similarity). Interacts (via PDZ motif) with SIPA1L1 (via PDZ domain); controls neuronal morphology through regulation of the RAP1 (RAP1A or RAP1B) and RAP2 (RAP2A, RAP2B or RAP2C) GTPases. Forms a ternary complex composed of ADAM10, CADH1 and EPHA4; within the complex, CADH1 is cleaved by ADAM10 which disrupts adherens junctions (By similarity).

    Three dimensional structures from OCA and Proteopedia for EPHA4 Gene

    Alternative splice isoforms for EPHA4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for EPHA4 Gene

Selected DME Specific Peptides for EPHA4 Gene

P54764:
  • NSEEKDVPKMYCGADGEWLVPIGNCLCNAG
  • QLVGMLRG
  • RDLAARN
  • RWTAPEAI
  • RYKDNFTAAGY
  • LAQFPDT
  • WSYGIVMWEVMS
  • CKETFNL
  • PQQNGLKTT
  • RKFTSASD
  • LEDDPEAAYTT
  • AHTNYTFE
  • TTNQAAPS
  • GMKYLSDM
  • DIKGLNPLT
  • SDVWSYGI
  • DTIAADE
  • YVHRDLAARNILVN
  • LDKLIRNP
  • ALVSVRV
  • TYQVCNV
  • CTRPPSAP
  • VLVVILIAAFVISRRRSKYSKAKQEADEEKHLNQGV
  • GERPYWD
  • RARTAAGYG
  • YRLPPPMDCP
  • SLVEVRG
  • KERFIRE
  • MSNQDVI
  • WEVMSYGERPY
  • KFTLRDCNS
  • PVMIITE
  • SGMKYLSDM
  • TEYMENGSLDAFLR
  • QNNWLRT
  • REFAKEID
  • LAFQDVGAC
  • GFYLAFQD
  • YEVKYYEK
  • EEGYRLP
  • ISNVNETS
  • VAIKTLKAGY
  • EASIMGQF
  • HQNKILSSVQ
  • IRNPNSLK
  • EPDRPNG
  • QLMLDCW
  • NDGRFTV
  • TYEDPNQAV
  • LMLDCWQK
  • SYGERPYW
  • IMGQFDHPNII
  • EVTLLDSRSVQGELGWIASPLEGGWEEVSIMDEKNTPIRT

Post-translational modifications for EPHA4 Gene

  • Glycosylation at Asn235, Asn340, Asn408, and Asn545
  • Ubiquitination at Lys735
  • Modification sites at PhosphoSitePlus

Antibody Products

Domains & Families for EPHA4 Gene

Gene Families for EPHA4 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Enzymes
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for EPHA4 Gene

Blocks:
  • Tyrosine protein kinase, active site
  • Sterile alpha motif SAM
  • Sterile alpha motif homology 2
  • Fibronectin type III repeat signature
  • Ephrin receptor, ligand binding
  • Receptor tyrosine kinase, class V
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for EPHA4 Gene

GenScript: Design optimal peptide antigens:
  • Tyrosine-protein kinase receptor SEK (EPHA4_HUMAN)
  • EPHA4 protein (Q58F15_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P54764

UniProtKB/Swiss-Prot:

EPHA4_HUMAN :
  • The protein kinase domain mediates interaction with NGEF.
  • Belongs to the protein kinase superfamily. Tyr protein kinase family. Ephrin receptor subfamily.
Domain:
  • The protein kinase domain mediates interaction with NGEF.
Family:
  • Belongs to the protein kinase superfamily. Tyr protein kinase family. Ephrin receptor subfamily.
genes like me logo Genes that share domains with EPHA4: view

Function for EPHA4 Gene

Molecular function for EPHA4 Gene

UniProtKB/Swiss-Prot Function:
Receptor tyrosine kinase which binds membrane-bound ephrin family ligands residing on adjacent cells, leading to contact-dependent bidirectional signaling into neighboring cells. The signaling pathway downstream of the receptor is referred to as forward signaling while the signaling pathway downstream of the ephrin ligand is referred to as reverse signaling. Highly promiscuous, it has the unique property among Eph receptors to bind and to be physiologically activated by both GPI-anchored ephrin-A and transmembrane ephrin-B ligands including EFNA1 and EFNB3. Upon activation by ephrin ligands, modulates cell morphology and integrin-dependent cell adhesion through regulation of the Rac, Rap and Rho GTPases activity. Plays an important role in the development of the nervous system controlling different steps of axonal guidance including the establishment of the corticospinal projections. May also control the segregation of motor and sensory axons during neuromuscular circuit development. In addition to its role in axonal guidance plays a role in synaptic plasticity. Activated by EFNA1 phosphorylates CDK5 at 'Tyr-15' which in turn phosphorylates NGEF regulating RHOA and dendritic spine morphogenesis. In the nervous system, plays also a role in repair after injury preventing axonal regeneration and in angiogenesis playing a role in central nervous system vascular formation. Additionally, its promiscuity makes it available to participate in a variety of cell-cell signaling regulating for instance the development of the thymic epithelium. During development of the cochlear organ of Corti, regulates pillar cell separation by forming a ternary complex with ADAM10 and CADH1 which facilitates the cleavage of CADH1 by ADAM10 and disruption of adherens junctions (By similarity).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + L-tyrosyl-[protein] = ADP + H(+) + O-phospho-L-tyrosyl-[protein]; Xref=Rhea:RHEA:10596, Rhea:RHEA-COMP:10136, Rhea:RHEA-COMP:10137, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:46858, ChEBI:CHEBI:82620, ChEBI:CHEBI:456216; EC=2.7.10.1; Evidence=. ;.

Enzyme Numbers (IUBMB) for EPHA4 Gene

Phenotypes From GWAS Catalog for EPHA4 Gene

Gene Ontology (GO) - Molecular Function for EPHA4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001540 amyloid-beta binding TAS 26871627
GO:0004672 protein kinase activity IDA 12775584
GO:0004713 protein tyrosine kinase activity IEA --
GO:0004714 transmembrane receptor protein tyrosine kinase activity IBA 21873635
GO:0005003 ephrin receptor activity IEA --
genes like me logo Genes that share ontologies with EPHA4: view
genes like me logo Genes that share phenotypes with EPHA4: view

Human Phenotype Ontology for EPHA4 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for EPHA4 Gene

MGI Knock Outs for EPHA4:

Animal Model Products

CRISPR Products

miRNA for EPHA4 Gene

miRTarBase miRNAs that target EPHA4

Clone Products

  • Addgene plasmids for EPHA4

No data available for Transcription Factor Targets and HOMER Transcription for EPHA4 Gene

Localization for EPHA4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for EPHA4 Gene

Cell membrane; Single-pass type I membrane protein. Cell projection, axon. Cell projection, dendrite. Cell junction, synapse, postsynaptic density membrane. Early endosome. Cell junction, adherens junction. Note=Clustered upon activation and targeted to early endosome. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for EPHA4 gene
Compartment Confidence
plasma membrane 5
endosome 4
mitochondrion 3
endoplasmic reticulum 3
golgi apparatus 3
extracellular 2
cytoskeleton 2
nucleus 2
cytosol 2
lysosome 1
peroxisome 0

Gene Ontology (GO) - Cellular Components for EPHA4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm ISS,IEA --
GO:0005741 mitochondrial outer membrane IEA --
GO:0005768 endosome IEA --
GO:0005769 early endosome IEA --
GO:0005783 endoplasmic reticulum IEA --
genes like me logo Genes that share ontologies with EPHA4: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for EPHA4 Gene

Pathways & Interactions for EPHA4 Gene

PathCards logo

SuperPathways for EPHA4 Gene

SuperPathway Contained pathways
1 GPCR Pathway
.73
.73
.62
.59
.58
.58
.55
.38
2 ERK Signaling
.61
.61
.58
.51
.49
3 Nanog in Mammalian ESC Pluripotency
.61
.61
.59
.48
4 EPHA forward signaling
.30
5 MAPK-Erk Pathway
genes like me logo Genes that share pathways with EPHA4: view

Pathways by source for EPHA4 Gene

3 GeneGo (Thomson Reuters) pathways for EPHA4 Gene
  • Cell adhesion Ephrins signaling
  • G-protein signaling_RhoA regulation pathway
  • Neurophysiological process Receptor-mediated axon growth repulsion
32 Qiagen pathways for EPHA4 Gene
  • 14-3-3 Induced Intracellular Signaling
  • Actin Nucleation and Branching
  • Actin Nucleation by ARP-WASP Complex
  • Activation of cAMP-Dependent PKA
  • Activation of PKA through GPCR
1 Cell Signaling Technology pathway for EPHA4 Gene

SIGNOR curated interactions for EPHA4 Gene

Activates:
Is activated by:

Gene Ontology (GO) - Biological Process for EPHA4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006468 protein phosphorylation IEA --
GO:0007155 cell adhesion IEA --
GO:0007169 transmembrane receptor protein tyrosine kinase signaling pathway IBA 21873635
GO:0007275 multicellular organism development IEA --
GO:0007399 nervous system development IEA --
genes like me logo Genes that share ontologies with EPHA4: view

Drugs & Compounds for EPHA4 Gene

(3) Drugs for EPHA4 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
fostamatinib Approved, Investigational Pharma Target, inhibitor Kinase Inhibitors 0
ATP Investigational Nutra Agonist, Activator, Full agonist, Antagonist, Pore Blocker, Potentiation 0

(3) Additional Compounds for EPHA4 Gene - From: HMDB and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
Full agonist, Agonist, Partial agonist, Antagonist, Gating inhibitor 58-64-0
KYL
676657-00-4
NVP BHG 712
940310-85-0

(2) Tocris Compounds for EPHA4 Gene

Compound Action Cas Number
KYL EphA4 kinase inhibitor; neuroprotective 676657-00-4
NVP BHG 712 Potent EphB4 kinase inhibitor 940310-85-0
genes like me logo Genes that share compounds with EPHA4: view

Transcripts for EPHA4 Gene

mRNA/cDNA for EPHA4 Gene

4 REFSEQ mRNAs :
19 NCBI additional mRNA sequence :
14 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

  • Addgene plasmids for EPHA4

Alternative Splicing Database (ASD) splice patterns (SP) for EPHA4 Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b · 10c · 10d ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16a · 16b ^ 17a · 17b ^ 18 ^
SP1: - - - -
SP2: - - - -
SP3: - -
SP4: -
SP5:
SP6: - - - - - - - -
SP7:
SP8:
SP9:
SP10:

ExUns: 19 ^ 20a · 20b ^ 21a · 21b ^ 22 ^ 23 ^ 24
SP1: -
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10: -

Relevant External Links for EPHA4 Gene

GeneLoc Exon Structure for
EPHA4

Expression for EPHA4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for EPHA4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for EPHA4 Gene

This gene is overexpressed in Brain - Frontal Cortex (BA9) (x4.8).

Protein differential expression in normal tissues from HIPED for EPHA4 Gene

This gene is overexpressed in Cerebrospinal fluid (41.6), Frontal cortex (11.0), and Serum (6.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for EPHA4 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for EPHA4

SOURCE GeneReport for Unigene cluster for EPHA4 Gene:

Hs.371218

mRNA Expression by UniProt/SwissProt for EPHA4 Gene:

P54764-EPHA4_HUMAN
Tissue specificity: Ubiquitous.

Evidence on tissue expression from TISSUES for EPHA4 Gene

  • Nervous system(5)
genes like me logo Genes that share expression patterns with EPHA4: view

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for EPHA4 Gene

Orthologs for EPHA4 Gene

This gene was present in the common ancestor of animals.

Orthologs for EPHA4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia EPHA4 31 30
  • 99.66 (n)
OneToOne
cow
(Bos Taurus)
Mammalia EPHA4 31
  • 98 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia EPHA4 31
  • 96 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia EPHA4 31
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia EPHA4 31 30
  • 92.99 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Epha4 17 31 30
  • 90.67 (n)
rat
(Rattus norvegicus)
Mammalia Epha4 30
  • 89.82 (n)
chicken
(Gallus gallus)
Aves EPHA4 31 30
  • 83.47 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia EPHA4 31
  • 92 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia epha4 30
  • 78.56 (n)
African clawed frog
(Xenopus laevis)
Amphibia MGC53038 30
zebrafish
(Danio rerio)
Actinopterygii epha4a 31 30
  • 74.42 (n)
OneToMany
epha4l 31
  • 74 (a)
OneToMany
ek1 31
  • 64 (a)
OneToMany
rtk4 30
fruit fly
(Drosophila melanogaster)
Insecta Eph 32
  • 41 (a)
worm
(Caenorhabditis elegans)
Secernentea vab-1 30
  • 49.02 (n)
Species where no ortholog for EPHA4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for EPHA4 Gene

ENSEMBL:
Gene Tree for EPHA4 (if available)
TreeFam:
Gene Tree for EPHA4 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for EPHA4: view image

Paralogs for EPHA4 Gene

genes like me logo Genes that share paralogs with EPHA4: view

Variants for EPHA4 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for EPHA4 Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
rs1553568456 Likely Pathogenic: atypical cerebral palsy 221,436,503(-) C/T MISSENSE_VARIANT
rs756952113 A bladder carcinoma NOS sample p.Gly370Glu
rs868224085 A metastatic melanoma sample p.Ser399Phe
rs35084379 - p.Arg269Gln
rs35341687 - p.Arg953Lys

Additional dbSNP identifiers (rs#s) for EPHA4 Gene

Structural Variations from Database of Genomic Variants (DGV) for EPHA4 Gene

Variant ID Type Subtype PubMed ID
esv2657184 CNV deletion 23128226
esv2669891 CNV deletion 23128226
esv2676923 CNV deletion 23128226
esv2721514 CNV deletion 23290073
esv2759115 CNV loss 17122850
esv3561038 CNV deletion 23714750
esv3594407 CNV loss 21293372
nsv1013987 CNV gain 25217958
nsv1114173 CNV deletion 24896259
nsv3174 CNV insertion 18451855
nsv428407 CNV loss 18775914
nsv526093 CNV loss 19592680
nsv584512 CNV loss 21841781
nsv818114 CNV loss 17921354
nsv955068 CNV deletion 24416366

Variation tolerance for EPHA4 Gene

Residual Variation Intolerance Score: 2.96% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.68; 32.13% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for EPHA4 Gene

Human Gene Mutation Database (HGMD)
EPHA4
SNPedia medical, phenotypic, and genealogical associations of SNPs for
EPHA4

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EPHA4 Gene

Disorders for EPHA4 Gene

MalaCards: The human disease database

(6) MalaCards diseases for EPHA4 Gene - From: Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
amyotrophic lateral sclerosis 1
  • als1
duane retraction syndrome
  • drs
staphyloenterotoxemia
  • staphylococcal food poisoning
craniofrontonasal syndrome
  • cfns
craniosynostosis
  • craniostenosis
- elite association - COSMIC cancer census association via MalaCards
Search EPHA4 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for EPHA4

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with EPHA4: view

No data available for UniProtKB/Swiss-Prot and Genatlas for EPHA4 Gene

Publications for EPHA4 Gene

  1. Structural plasticity of eph receptor A4 facilitates cross-class ephrin signaling. (PMID: 19836338) Bowden TA … Jones EY (Structure (London, England : 1993) 2009) 3 4 23 54
  2. Unified nomenclature for Eph family receptors and their ligands, the ephrins. Eph Nomenclature Committee. (PMID: 9267020) (Cell 1997) 2 3 4 54
  3. cDNA cloning and tissue distribution of five human EPH-like receptor protein-tyrosine kinases. (PMID: 7898931) Fox GM … Welcher AA (Oncogene 1995) 3 4 23 54
  4. Whole genome association study of brain-wide imaging phenotypes for identifying quantitative trait loci in MCI and AD: A study of the ADNI cohort. (PMID: 20100581) Shen L … Alzheimer's Disease Neuroimaging Initiative (NeuroImage 2010) 3 41 54
  5. Structural characterization of the EphA4-Ephrin-B2 complex reveals new features enabling Eph-ephrin binding promiscuity. (PMID: 19875447) Qin H … Song J (The Journal of biological chemistry 2010) 4 23 54

Products for EPHA4 Gene

Sources for EPHA4 Gene