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EPHA4 EPH receptor A4 [ Homo sapiens (human) ]

Gene ID: 2043, updated on 6-Sep-2021

Summary

Official Symbol
EPHA4provided by HGNC
Official Full Name
EPH receptor A4provided by HGNC
Primary source
HGNC:HGNC:3388
See related
Ensembl:ENSG00000116106 MIM:602188
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
EK8; SEK; HEK8; TYRO1
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]
Expression
Broad expression in brain (RPKM 16.1), testis (RPKM 9.3) and 17 other tissues See more
Orthologs
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Genomic context

See EPHA4 in Genome Data Viewer
Location:
2q36.1
Exon count:
19
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (221418027..221574202, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (222282747..222438922, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105373896 Neighboring gene uncharacterized LOC107985989 Neighboring gene uncharacterized LOC107985988 Neighboring gene uncharacterized LOC107985990 Neighboring gene transmembrane protein 256 pseudogene 2 Neighboring gene uncharacterized LOC105373897 Neighboring gene uncharacterized LOC105373899 Neighboring gene uncharacterized LOC105373898 Neighboring gene ribosomal protein L23 pseudogene 5

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Genome-wide association study identifies ephrin type A receptors implicated in paclitaxel induced peripheral sensory neuropathy.
GeneReviews: Not available
Genome-wide SNP associations with rubella-specific cytokine responses in measles-mumps-rubella vaccine recipients.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATP binding IEA
Inferred from Electronic Annotation
more info
 
enables DH domain binding IDA
Inferred from Direct Assay
more info
PubMed 
enables GPI-linked ephrin receptor activity ISS
Inferred from Sequence or Structural Similarity
more info
 
enables PH domain binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables amyloid-beta binding TAS
Traceable Author Statement
more info
PubMed 
enables ephrin receptor binding IEA
Inferred from Electronic Annotation
more info
 
enables identical protein binding IEA
Inferred from Electronic Annotation
more info
 
enables kinase activity IGI
Inferred from Genetic Interaction
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
enables protein tyrosine kinase binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables transmembrane receptor protein tyrosine kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables transmembrane-ephrin receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables transmembrane-ephrin receptor activity ISS
Inferred from Sequence or Structural Similarity
more info
 
Process Evidence Code Pubs
involved_in adherens junction organization IEA
Inferred from Electronic Annotation
more info
 
involved_in adult walking behavior IEA
Inferred from Electronic Annotation
more info
 
involved_in axon guidance IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in cell adhesion IEA
Inferred from Electronic Annotation
more info
 
involved_in cellular response to amyloid-beta ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in cochlea development IEA
Inferred from Electronic Annotation
more info
 
involved_in corticospinal tract morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in ephrin receptor signaling pathway IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in fasciculation of motor neuron axon ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in fasciculation of sensory neuron axon ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in glial cell migration IEA
Inferred from Electronic Annotation
more info
 
involved_in motor neuron axon guidance ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in multicellular organism development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in negative regulation of axon regeneration ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in negative regulation of cell migration IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of long-term synaptic potentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in negative regulation of neuron projection development ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in negative regulation of proteolysis involved in cellular protein catabolic process IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in nephric duct morphogenesis IEA
Inferred from Electronic Annotation
more info
 
involved_in neuron projection fasciculation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in neuron projection guidance ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in peptidyl-tyrosine phosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of JUN kinase activity IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of Rho guanyl-nucleotide exchange factor activity IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of amyloid-beta formation IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in positive regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in positive regulation of cell adhesion IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of dendrite morphogenesis IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in positive regulation of protein tyrosine kinase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in protein autophosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in protein stabilization IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in regulation of GTPase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in regulation of astrocyte differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in regulation of axonogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in regulation of dendritic spine morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in regulation of modification of synaptic structure ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in synapse pruning IEA
Inferred from Electronic Annotation
more info
 
involved_in transmembrane receptor protein tyrosine kinase signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
located_in Golgi apparatus IEA
Inferred from Electronic Annotation
more info
 
located_in Schaffer collateral - CA1 synapse IEA
Inferred from Electronic Annotation
more info
 
located_in adherens junction IEA
Inferred from Electronic Annotation
more info
 
located_in axon ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in axon terminus IEA
Inferred from Electronic Annotation
more info
 
located_in axonal growth cone IEA
Inferred from Electronic Annotation
more info
 
located_in cell surface IEA
Inferred from Electronic Annotation
more info
 
located_in cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in dendrite ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in dendritic shaft ISS
Inferred from Sequence or Structural Similarity
more info
 
is_active_in dendritic spine IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in dendritic spine ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in early endosome membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in endoplasmic reticulum IEA
Inferred from Electronic Annotation
more info
 
located_in filopodium IEA
Inferred from Electronic Annotation
more info
 
located_in glutamatergic synapse IEA
Inferred from Electronic Annotation
more info
 
is_active_in integral component of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in integral component of plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in integral component of postsynaptic membrane IEA
Inferred from Electronic Annotation
more info
 
located_in integral component of presynaptic membrane IEA
Inferred from Electronic Annotation
more info
 
located_in mitochondrial outer membrane IEA
Inferred from Electronic Annotation
more info
 
located_in neuromuscular junction IEA
Inferred from Electronic Annotation
more info
 
is_active_in neuron projection IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in perikaryon IEA
Inferred from Electronic Annotation
more info
 
located_in plasma membrane NAS
Non-traceable Author Statement
more info
PubMed 
located_in plasma membrane TAS
Traceable Author Statement
more info
 
located_in postsynaptic density membrane IEA
Inferred from Electronic Annotation
more info
 
part_of receptor complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
ephrin type-A receptor 4
Names
EPH-like kinase 8
TYRO1 protein tyrosine kinase
receptor protein-tyrosine kinase HEK8
tyrosine-protein kinase TYRO1
tyrosine-protein kinase receptor SEK
NP_001291465.1
NP_001291466.1
NP_001350677.1
NP_004429.1

NCBI Reference Sequences (RefSeq)

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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.

mRNA and Protein(s)

  1. NM_001304536.2NP_001291465.1  ephrin type-A receptor 4 isoform a precursor

    See identical proteins and their annotated locations for NP_001291465.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a). Variants 1 and 2 both encode the same isoform (a).
    Source sequence(s)
    AC010899, AK290306, BC105000, BM676153
    Consensus CDS
    CCDS2447.1
    UniProtKB/Swiss-Prot
    P54764
    UniProtKB/TrEMBL
    A0A024R452
    Related
    ENSP00000386829.1, ENST00000409938.5
    Conserved Domains (5) summary
    cd09545
    Location:911981
    SAM_EPH-A4; SAM domain of EPH-A4 subfamily of tyrosine kinase receptors
    cd10482
    Location:30203
    EphR_LBD_A4; Ligand Binding Domain of Ephrin type-A Receptor 4
    cd00063
    Location:441532
    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 ...
    cd05066
    Location:616882
    PTKc_EphR_A; Catalytic domain of the Protein Tyrosine Kinases, Class EphA Ephrin Receptors
    pfam14575
    Location:562618
    EphA2_TM; Ephrin type-A receptor 2 transmembrane domain
  2. NM_001304537.2NP_001291466.1  ephrin type-A receptor 4 isoform b

    See identical proteins and their annotated locations for NP_001291466.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR and coding sequence compared to variant (1). The resulting isoform (b) has a shorter and distinct N-terminus compared to isoform a.
    Source sequence(s)
    AC010899, AK300772, BC105000, BM676153, DA451606
    UniProtKB/Swiss-Prot
    P54764
    Conserved Domains (7) summary
    cd09545
    Location:860930
    SAM_EPH-A4; SAM domain of EPH-A4 subfamily of tyrosine kinase receptors
    smart00454
    Location:864924
    SAM; Sterile alpha motif
    cd10473
    Location:3152
    EphR_LBD_A; Ligand Binding Domain of Ephrin type-A Receptors
    cd00063
    Location:390481
    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 ...
    cd05066
    Location:565831
    PTKc_EphR_A; Catalytic domain of the Protein Tyrosine Kinases, Class EphA Ephrin Receptors
    pfam07714
    Location:570827
    Pkinase_Tyr; Protein tyrosine kinase
    pfam14575
    Location:511565
    EphA2_TM; Ephrin type-A receptor 2 transmembrane domain
  3. NM_001363748.2NP_001350677.1  ephrin type-A receptor 4 isoform c precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR and 3' coding sequence compared to variant (1). The resulting isoform (c) has a shorter and distinct C-terminus compared to isoform a.
    Source sequence(s)
    AC010899, AC079834
    Consensus CDS
    CCDS86924.1
    Related
    ENSP00000386276.1, ENST00000409854.5
    Conserved Domains (5) summary
    cd10482
    Location:30203
    EphR_LBD_A4; Ligand Binding Domain of Ephrin type-A Receptor 4
    cd00063
    Location:441532
    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 ...
    cd05066
    Location:616882
    PTKc_EphR_A; Catalytic domain of the Protein Tyrosine Kinases, Class EphA Ephrin Receptors
    pfam14575
    Location:562618
    EphA2_TM; Ephrin type-A receptor 2 transmembrane domain
    cl15755
    Location:911949
    SAM_superfamily; SAM (Sterile alpha motif )
  4. NM_004438.5NP_004429.1  ephrin type-A receptor 4 isoform a precursor

    See identical proteins and their annotated locations for NP_004429.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 both encode the same isoform (a).
    Source sequence(s)
    AC010899, BC105000, BM676153, DA451606
    Consensus CDS
    CCDS2447.1
    UniProtKB/Swiss-Prot
    P54764
    UniProtKB/TrEMBL
    A0A024R452
    Related
    ENSP00000281821.2, ENST00000281821.7
    Conserved Domains (5) summary
    cd09545
    Location:911981
    SAM_EPH-A4; SAM domain of EPH-A4 subfamily of tyrosine kinase receptors
    cd10482
    Location:30203
    EphR_LBD_A4; Ligand Binding Domain of Ephrin type-A Receptor 4
    cd00063
    Location:441532
    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 ...
    cd05066
    Location:616882
    PTKc_EphR_A; Catalytic domain of the Protein Tyrosine Kinases, Class EphA Ephrin Receptors
    pfam14575
    Location:562618
    EphA2_TM; Ephrin type-A receptor 2 transmembrane domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    221418027..221574202 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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