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EPHA7 EPH receptor A7 [ Homo sapiens (human) ]

Gene ID: 2045, updated on 26-May-2016
Official Symbol
EPHA7provided by HGNC
Official Full Name
EPH receptor A7provided by HGNC
Primary source
HGNC:HGNC:3390
See related
Ensembl:ENSG00000135333 HPRD:03721; MIM:602190; Vega:OTTHUMG00000015228
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
EHK3; EK11; EHK-3; HEK11
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. Increased expression of this gene is associated with multiple forms of carcinoma. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]
Orthologs
Location:
6q16.1
Exon count:
18
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 6 NC_000006.12 (93240020..93419584, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (93949738..94129302, complement)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105377898 Neighboring gene COP9 signalosome subunit 5 pseudogene 1 Neighboring gene uncharacterized LOC105377899 Neighboring gene uncharacterized LOC105377900 Neighboring gene tumor suppressor TSG1

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

Description
Discovery of genetic biomarkers contributing to variation in drug response of cytidine analogues using human lymphoblastoid cell lines.
NHGRI GWA Catalog
Genome-wide association scan for survival on dialysis in African-Americans with type 2 diabetes.
NHGRI GWA Catalog
Genome-wide association study identifies three susceptibility loci for laryngeal squamous cell carcinoma in the Chinese population.
NHGRI GWA Catalog
Serum ferritin levels are associated with a distinct phenotype of chronic hepatitis C poorly responding to pegylated interferon-alpha and ribavirin therapy.
NHGRI GWA Catalog
  • Axon guidance, organism-specific biosystem (from KEGG)
    Axon guidance, organism-specific biosystemAxon guidance represents a key stage in the formation of neuronal network. Axons are guided by a variety of guidance factors, such as netrins, ephrins, Slits, and semaphorins. These guidance cues are...
  • Axon guidance, conserved biosystem (from KEGG)
    Axon guidance, conserved biosystemAxon guidance represents a key stage in the formation of neuronal network. Axons are guided by a variety of guidance factors, such as netrins, ephrins, Slits, and semaphorins. These guidance cues are...
  • Axon guidance, organism-specific biosystem (from REACTOME)
    Axon guidance, organism-specific biosystemAxon guidance / axon pathfinding is the process by which neurons send out axons to reach the correct targets. Growing axons have a highly motile structure at the growing tip called the growth cone, w...
  • Developmental Biology, organism-specific biosystem (from REACTOME)
    Developmental Biology, organism-specific biosystemAs a first step towards capturing the array of processes by which a fertilized egg gives rise to the diverse tissues of the body, examples of three kinds of processes have been annotated. These are a...
  • EPH-Ephrin signaling, organism-specific biosystem (from REACTOME)
    EPH-Ephrin signaling, organism-specific biosystemDuring the development process cell migration and adhesion are the main forces involved in morphing the cells into critical anatomical structures. The ability of a cell to migrate to its correct dest...
  • EPH-ephrin mediated repulsion of cells, organism-specific biosystem (from REACTOME)
    EPH-ephrin mediated repulsion of cells, organism-specific biosystemDespite high-affinity multimeric interaction between EPHs and ephrins (EFNs), the cellular response to EPH-EFN engagement is usually repulsion between the two cells and signal termination. These repu...
  • EPHA forward signaling, organism-specific biosystem (from Pathway Interaction Database)
    EPHA forward signaling, organism-specific biosystem
    EPHA forward signaling
  • EPHA-mediated growth cone collapse, organism-specific biosystem (from REACTOME)
    EPHA-mediated growth cone collapse, organism-specific biosystemEPH/Ephrin signaling is coupled to Rho family GTPases such as Rac, Rho and Cdc42 that connect bidirectional receptor-ligand interactions to changes in the actin cytoskeleton (Noren & Pasquale 2004, G...
  • EphrinA-EPHA pathway, organism-specific biosystem (from Pathway Interaction Database)
    EphrinA-EPHA pathway, organism-specific biosystem
    EphrinA-EPHA pathway
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
GPI-linked ephrin receptor activity ISS
Inferred from Sequence or Structural Similarity
more info
 
axon guidance receptor activity ISS
Inferred from Sequence or Structural Similarity
more info
 
chemorepellent activity ISS
Inferred from Sequence or Structural Similarity
more info
 
ephrin receptor binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein tyrosine kinase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
Process Evidence Code Pubs
brain development ISS
Inferred from Sequence or Structural Similarity
more info
 
branching morphogenesis of a nerve ISS
Inferred from Sequence or Structural Similarity
more info
 
ephrin receptor signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
ephrin receptor signaling pathway TAS
Traceable Author Statement
more info
 
negative chemotaxis ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of collateral sprouting IEA
Inferred from Electronic Annotation
more info
 
negative regulation of synapse assembly IEA
Inferred from Electronic Annotation
more info
 
nephric duct morphogenesis IEA
Inferred from Electronic Annotation
more info
 
peptidyl-tyrosine phosphorylation IEA
Inferred from Electronic Annotation
more info
 
phosphorylation ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of neuron apoptotic process ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of protein phosphorylation IEA
Inferred from Electronic Annotation
more info
 
regulation of ERK1 and ERK2 cascade IDA
Inferred from Direct Assay
more info
PubMed 
regulation of cell-cell adhesion ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of cysteine-type endopeptidase activity involved in apoptotic process ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of peptidyl-tyrosine phosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
regulation of protein autophosphorylation ISS
Inferred from Sequence or Structural Similarity
more info
 
retinal ganglion cell axon guidance IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
dendrite IEA
Inferred from Electronic Annotation
more info
 
integral component of plasma membrane IEA
Inferred from Electronic Annotation
more info
 
neuromuscular junction IEA
Inferred from Electronic Annotation
more info
 
neuronal cell body IEA
Inferred from Electronic Annotation
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 
postsynaptic membrane IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
ephrin type-A receptor 7
Names
EPH homology kinase 3
EPH-like kinase 11
Eph homology kinase-3
receptor protein-tyrosine kinase HEK11
tyrosine-protein kinase receptor EHK-3
NP_001275558.1
NP_001275559.1
NP_004431.1

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_033944.1 RefSeqGene

    Range
    5001..184563
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001288629.1NP_001275558.1  ephrin type-A receptor 7 isoform 2 precursor

    See identical proteins and their annotated locations for NP_001275558.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 3' coding region, compared to isoform 1, and encodes a shorter isoform (2), compared to isoform 1.
    Source sequence(s)
    AB209269, AL354857, AL591036, DA503795, L36642
    UniProtKB/Swiss-Prot
    Q15375
    Conserved Domains (8) summary
    cd09548
    Location:914983
    SAM_EPH-A7; SAM domain of EPH-A7 subfamily of tyrosine kinase receptors
    smart00454
    Location:915982
    SAM; Sterile alpha motif
    cd10485
    Location:30206
    EphR_LBD_A7; Ligand Binding Domain of Ephrin type-A Receptor 7
    cd00063
    Location:443534
    FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
    pfam07714
    Location:628885
    Pkinase_Tyr; Protein tyrosine kinase
    pfam14575
    Location:560625
    EphA2_TM; Ephrin type-A receptor 2 transmembrane domain
    cd05066
    Location:623889
    PTKc_EphR_A; Catalytic domain of the Protein Tyrosine Kinases, Class EphA Ephrin Receptors
    cd00185
    Location:265322
    TNFRSF; Tumor necrosis factor receptor superfamily (TNFRSF)
  2. NM_001288630.1NP_001275559.1  ephrin type-A receptor 7 isoform 3 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks several exons and includes an alternate 3' terminal exon, compared to variant 1. It encodes isoform 3 which is shorter and has a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AL121966, BC027940, DA503795
    Consensus CDS
    CCDS75494.1
    UniProtKB/Swiss-Prot
    Q15375
    Related
    ENSP00000358303, OTTHUMP00000016876, ENST00000369297, OTTHUMT00000041546
    Conserved Domains (1) summary
    cd10485
    Location:30206
    EphR_LBD_A7; Ligand Binding Domain of Ephrin type-A Receptor 7
  3. NM_004440.3NP_004431.1  ephrin type-A receptor 7 isoform 1 precursor

    See identical proteins and their annotated locations for NP_004431.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AB209269, AL354857, AL591036, BC126125, DA503795, L36642
    Consensus CDS
    CCDS5031.1
    UniProtKB/Swiss-Prot
    Q15375
    Related
    ENSP00000358309, OTTHUMP00000016875, ENST00000369303, OTTHUMT00000041545
    Conserved Domains (8) summary
    cd09548
    Location:919988
    SAM_EPH-A7; SAM domain of EPH-A7 subfamily of tyrosine kinase receptors
    smart00454
    Location:920987
    SAM; Sterile alpha motif
    cd10485
    Location:30206
    EphR_LBD_A7; Ligand Binding Domain of Ephrin type-A Receptor 7
    cd00063
    Location:443534
    FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
    pfam07714
    Location:633890
    Pkinase_Tyr; Protein tyrosine kinase
    pfam14575
    Location:565630
    EphA2_TM; Ephrin type-A receptor 2 transmembrane domain
    cd05066
    Location:628894
    PTKc_EphR_A; Catalytic domain of the Protein Tyrosine Kinases, Class EphA Ephrin Receptors
    cd00185
    Location:265322
    TNFRSF; Tumor necrosis factor receptor superfamily (TNFRSF)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p2 Primary Assembly

    Range
    93240020..93419584 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005248669.1XP_005248726.1  

    See identical proteins and their annotated locations for XP_005248726.1

    UniProtKB/Swiss-Prot
    Q15375
    Conserved Domains (8) summary
    cd09548
    Location:915984
    SAM_EPH-A7; SAM domain of EPH-A7 subfamily of tyrosine kinase receptors
    smart00454
    Location:916983
    SAM; Sterile alpha motif
    cd10485
    Location:30206
    EphR_LBD_A7; Ligand Binding Domain of Ephrin type-A Receptor 7
    cd00063
    Location:443534
    FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
    pfam07714
    Location:629886
    Pkinase_Tyr; Protein tyrosine kinase
    pfam14575
    Location:565626
    EphA2_TM; Ephrin type-A receptor 2 transmembrane domain
    cd05066
    Location:624890
    PTKc_EphR_A; Catalytic domain of the Protein Tyrosine Kinases, Class EphA Ephrin Receptors
    cd00185
    Location:265322
    TNFRSF; Tumor necrosis factor receptor superfamily (TNFRSF)
  2. XM_005248671.1XP_005248728.1  

    See identical proteins and their annotated locations for XP_005248728.1

    Conserved Domains (4) summary
    cd10485
    Location:30206
    EphR_LBD_A7; Ligand Binding Domain of Ephrin type-A Receptor 7
    cd00063
    Location:443534
    FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
    pfam07699
    Location:275312
    GCC2_GCC3; GCC2 and GCC3
    pfam14575
    Location:565600
    EphA2_TM; Ephrin type-A receptor 2 transmembrane domain

Alternate CHM1_1.1

Genomic

  1. NC_018917.2 Alternate CHM1_1.1

    Range
    94047125..94226695 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)