AutismKB 2.0

Annotation Details for EPHA7


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Basic Information Top
Gene Symbol:EPHA7 ( EHK3,HEK11 )
Gene Full Name: EPH receptor A7
Band: 6q16.1
Quick LinksEntrez ID:2045; OMIM: 602190; Uniprot ID:EPHA7_HUMAN; ENSEMBL ID: ENSG00000135333; HGNC ID: 3390
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005886TAS-plasma membrane-
GO:0005887IEA-integral component of plasma membrane-
GO:0030425IEA-dendrite-
GO:0031594IEA-neuromuscular junction-
GO:0043025IEA-neuronal cell body-
GO:0045211IEA-postsynaptic membrane-
GO ID Evidence Qualifier GO_term References
GO:0004713ISS-protein tyrosine kinase activity-
GO:0005004ISS-GPI-linked ephrin receptor activity-
GO:0005515IPI-protein binding22036564
GO:0005524IEA-ATP binding-
GO:0008046ISS-axon guidance receptor activity-
GO:0045499ISS-chemorepellent activity-
GO:0046875IEA-ephrin receptor binding-
GO ID Evidence Qualifier GO_term References
GO:0001934IEA-positive regulation of protein phosphorylation-
GO:0006915IEA-apoptotic process-
GO:0007420ISS-brain development-
GO:0016310ISS-phosphorylation-
GO:0018108IEA-peptidyl-tyrosine phosphorylation-
GO:0022407ISS-regulation of cell-cell adhesion-
GO:0031290IEA-retinal ganglion cell axon guidance-
GO:0031952ISS-regulation of protein autophosphorylation-
GO:0043281ISS-regulation of cysteine-type endopeptidase activity involved in apoptotic process-
GO:0043525ISS-positive regulation of neuron apoptotic process-
GO:0048013IDA-ephrin receptor signaling pathway17726105
GO:0048013TAS-ephrin receptor signaling pathway-
GO:0048671IEA-negative regulation of collateral sprouting-
GO:0048755ISS-branching morphogenesis of a nerve-
GO:0050730IDA-regulation of peptidyl-tyrosine phosphorylation17726105
GO:0050919ISS-negative chemotaxis-
GO:0051964IEA-negative regulation of synapse assembly-
GO:0070372IDA-regulation of ERK1 and ERK2 cascade17726105
GO:0072178IEA-nephric duct morphogenesis-
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
EPHA7EFNA210835910366629 Affinity Capture-Western
EPHA7EFNA210826310366629 Affinity Capture-Western
EPHA7EFNA310835910366629 Affinity Capture-Western
EPHA7EFNA310826410366629 Affinity Capture-Western
EPHA7EFNA510835910366629 Affinity Capture-Western
EPHA7EFNA510826610366629 Affinity Capture-Western
MLLT4EPHA71104479707552 Two-hybrid
MLLT4EPHA71083599707552 Two-hybrid
No data
No data
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:95276
  • Data Attributes: MGI curated and HomoloGene calculated
No data
No data

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Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018