ENSG00000116106


Homo sapiens

Features
Gene ID: ENSG00000116106
  
Biological name :EPHA4
  
Synonyms : EPHA4 / EPH receptor A4 / P54764
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 2
Strand: -1
Band: q36.1
Gene start: 221418027
Gene end: 221574202
  
Corresponding Affymetrix probe sets: 206114_at (Human Genome U133 Plus 2.0 Array)   227449_at (Human Genome U133 Plus 2.0 Array)   228948_at (Human Genome U133 Plus 2.0 Array)   229374_at (Human Genome U133 Plus 2.0 Array)   238671_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000391517
Ensembl peptide - ENSP00000444085
Ensembl peptide - ENSP00000410158
Ensembl peptide - ENSP00000408145
Ensembl peptide - ENSP00000404089
Ensembl peptide - ENSP00000401405
Ensembl peptide - ENSP00000395917
Ensembl peptide - ENSP00000281821
Ensembl peptide - ENSP00000386276
Ensembl peptide - ENSP00000386829
NCBI entrez gene - 2043     See in Manteia.
OMIM - 602188
RefSeq - NM_001304537
RefSeq - NM_004438
RefSeq - NM_001304536
RefSeq - XM_005246374
RefSeq Peptide - NP_004429
RefSeq Peptide - NP_001291465
RefSeq Peptide - NP_001291466
swissprot - E9PG71
swissprot - P54764
swissprot - H7C2W7
swissprot - C9JIX8
swissprot - C9JFX5
swissprot - C9JEM6
swissprot - A0A024R452
swissprot - F5GZZ5
swissprot - F8WBU0
swissprot - H7C1N8
Ensembl - ENSG00000116106
  
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 epha4lENSDARG00000010767Danio rerio
 EPHA4ENSGALG00000005256Gallus gallus
 Epha4ENSMUSG00000026235Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
EPHA5 / P54756 / EPH receptor A5ENSG0000014524265
EPHA7 / Q15375 / EPH receptor A7ENSG0000013533363
EPHA3 / P29320 / EPH receptor A3ENSG0000004452463
EPHA6 / Q9UF33 / EPH receptor A6ENSG0000008022461
EPHB1 / P54762 / EPH receptor B1ENSG0000015492858
EPHB2 / P29323 / EPH receptor B2ENSG0000013321658
EPHB3 / P54753 / EPH receptor B3ENSG0000018258057
EPHA8 / P29322 / EPH receptor A8ENSG0000007088657
EPHB4 / P54760 / EPH receptor B4ENSG0000019641150
EPHA1 / P21709 / EPH receptor A1ENSG0000014690444
EPHB6 / EPH receptor B6ENSG0000010612342


Protein motifs (from Interpro)
Interpro ID Name
 IPR000719  Protein kinase domain
 IPR001090  Ephrin receptor ligand binding domain
 IPR001245  Serine-threonine/tyrosine-protein kinase, catalytic domain
 IPR001426  Tyrosine-protein kinase, receptor class V, conserved site
 IPR001660  Sterile alpha motif domain
 IPR003961  Fibronectin type III
 IPR008266  Tyrosine-protein kinase, active site
 IPR008979  Galactose-binding-like domain superfamily
 IPR011009  Protein kinase-like domain superfamily
 IPR011641  Tyrosine-protein kinase ephrin type A/B receptor-like
 IPR013761  Sterile alpha motif/pointed domain superfamily
 IPR013783  Immunoglobulin-like fold
 IPR016257  Ephrin receptor type-A /type-B
 IPR017441  Protein kinase, ATP binding site
 IPR020635  Tyrosine-protein kinase, catalytic domain
 IPR027936  Ephrin receptor, transmembrane domain
 IPR034270  Ephrin type-A receptor 4, ligand binding domain
 IPR036116  Fibronectin type III superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006468 protein phosphorylation IEA
 biological_processGO:0007155 cell adhesion IEA
 biological_processGO:0007169 transmembrane receptor protein tyrosine kinase signaling pathway IEA
 biological_processGO:0007275 multicellular organism development IEA
 biological_processGO:0007399 nervous system development IEA
 biological_processGO:0007411 axon guidance IEA
 biological_processGO:0007628 adult walking behavior IEA
 biological_processGO:0008045 motor neuron axon guidance ISS
 biological_processGO:0008347 glial cell migration IEA
 biological_processGO:0010977 negative regulation of neuron projection development ISS
 biological_processGO:0016310 phosphorylation IEA
 biological_processGO:0018108 peptidyl-tyrosine phosphorylation IDA
 biological_processGO:0021957 corticospinal tract morphogenesis ISS
 biological_processGO:0043087 regulation of GTPase activity ISS
 biological_processGO:0043507 positive regulation of JUN kinase activity IEA
 biological_processGO:0046777 protein autophosphorylation IDA
 biological_processGO:0048013 ephrin receptor signaling pathway IGI
 biological_processGO:0048681 negative regulation of axon regeneration ISS
 biological_processGO:0048710 regulation of astrocyte differentiation ISS
 biological_processGO:0050770 regulation of axonogenesis ISS
 biological_processGO:0050775 positive regulation of dendrite morphogenesis IEA
 biological_processGO:0050821 protein stabilization IGI
 biological_processGO:0061001 regulation of dendritic spine morphogenesis ISS
 biological_processGO:0061098 positive regulation of protein tyrosine kinase activity ISS
 biological_processGO:0072178 nephric duct morphogenesis IEA
 biological_processGO:0097155 fasciculation of sensory neuron axon ISS
 biological_processGO:0097156 fasciculation of motor neuron axon ISS
 biological_processGO:0097485 neuron projection guidance ISS
 biological_processGO:0106030 neuron projection fasciculation ISS
 biological_processGO:1900272 negative regulation of long-term synaptic potentiation ISS
 biological_processGO:1902004 positive regulation of amyloid-beta formation IGI
 biological_processGO:1902961 positive regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process IGI
 biological_processGO:1903051 negative regulation of proteolysis involved in cellular protein catabolic process IGI
 biological_processGO:1904646 cellular response to amyloid-beta ISS
 biological_processGO:1905244 regulation of modification of synaptic structure ISS
 biological_processGO:2001108 positive regulation of Rho guanyl-nucleotide exchange factor activity IDA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005741 mitochondrial outer membrane IEA
 cellular_componentGO:0005768 endosome IEA
 cellular_componentGO:0005769 early endosome IEA
 cellular_componentGO:0005783 endoplasmic reticulum IEA
 cellular_componentGO:0005794 Golgi apparatus IEA
 cellular_componentGO:0005886 plasma membrane NAS
 cellular_componentGO:0005887 integral component of plasma membrane ISS
 cellular_componentGO:0009986 cell surface IEA
 cellular_componentGO:0014069 postsynaptic density IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0030054 cell junction IEA
 cellular_componentGO:0030175 filopodium IEA
 cellular_componentGO:0030424 axon ISS
 cellular_componentGO:0030425 dendrite ISS
 cellular_componentGO:0031594 neuromuscular junction IEA
 cellular_componentGO:0031901 early endosome membrane ISS
 cellular_componentGO:0042995 cell projection IEA
 cellular_componentGO:0043197 dendritic spine ISS
 cellular_componentGO:0043198 dendritic shaft ISS
 cellular_componentGO:0043204 perikaryon IEA
 cellular_componentGO:0043679 axon terminus IEA
 cellular_componentGO:0044295 axonal growth cone IEA
 cellular_componentGO:0044297 cell body IEA
 cellular_componentGO:0045202 synapse IEA
 cellular_componentGO:0045211 postsynaptic membrane IEA
 molecular_functionGO:0000166 nucleotide binding IEA
 molecular_functionGO:0004672 protein kinase activity IDA
 molecular_functionGO:0004713 protein tyrosine kinase activity IEA
 molecular_functionGO:0004714 transmembrane receptor protein tyrosine kinase activity IEA
 molecular_functionGO:0005003 ephrin receptor activity IEA
 molecular_functionGO:0005004 GPI-linked ephrin receptor activity ISS
 molecular_functionGO:0005005 transmembrane-ephrin receptor activity ISS
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0005524 ATP binding IEA
 molecular_functionGO:0016301 kinase activity IGI
 molecular_functionGO:0016740 transferase activity IEA
 molecular_functionGO:0042731 PH domain binding IPI
 molecular_functionGO:0042802 identical protein binding IEA
 molecular_functionGO:0046875 ephrin receptor binding IEA
 molecular_functionGO:0097161 DH domain binding IDA
 molecular_functionGO:1990782 protein tyrosine kinase binding IPI


Pathways (from Reactome)
Pathway description
EPH-Ephrin signaling
EPHA-mediated growth cone collapse
EPH-ephrin mediated repulsion of cells


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000217 Xerostomia "Dryness of the mouth due to salivary gland dysfunction." [HPO:curators]
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 HP:0000712 Emotional lability 
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 HP:0000713 Agitation 
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 HP:0000716 Depression "A condition characterized by pervasive dysphoric mood, loss of interests, and inability to experience pleasure." [HPO:curators]
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 HP:0000739 Anxiety 
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 HP:0001257 Spasticity "A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes." [HPO:curators]
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 HP:0002017 Nausea and vomiting 
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 HP:0002094 Dyspnea 
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 HP:0002180 Neurodegeneration 
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 HP:0002878 Early respiratory failure 
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 HP:0003202 Amyotrophy "The presence of muscular atrophy (which is also known as amyotrophy)." [HPO:curators]
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 HP:0003324 Generalized muscle weakness "Generalized weakness or decreased strength of the muscles." [HPO:curators]
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 HP:0003394 Muscle cramps 
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 HP:0003470 Paralysis "Paralysis of voluntary muscles means loss of contraction due to interruption of one or more motor pathways from the brain to the muscle fibers. Although the word paralysis is often used interchangeably to mean either complete or partial loss of muscle strength, it is preferable to use paralysis or plegia for complete or severe loss of muscle strength, and paresis for partial or slight loss. Motor paralysis results from deficits of the upper motor neurons (corticospinal, corticobulbar, or subcorticospinal). Motor paralysis is often accompanied by an impairment in the facility of movement." [HPO:curators]
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 HP:0005945 Laryngeal obstruction 
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 HP:0007354 Amyotrophic lateral sclerosis 
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 HP:0012378 Fatigue "A subjective feeling of tiredness characterized by a lack of energy and motivation." [HPO:probinson]
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 HP:0012531 Pain "An unpleasant sensory and emotional experience associated with actual or potential tissue damage, or described in terms of such damage." [ORCID:0000-0001-5208-3432]
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 HP:0030195 Fatigable weakness of swallowing muscles "A type of weakness of the muscles involved in swallowing that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions." [pmid:17986328, UK:rheller]
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 HP:0030196 Fatigable weakness of respiratory muscles "A type of weakness of the muscles involved in breathing (respiration) that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions." [UNCL:mbertoli]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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