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EPHA4 EPH receptor A4 [ Homo sapiens (human) ]

Gene ID: 2043, updated on 4-Jan-2025

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; AllianceGenome:HGNC:3388
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
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (221418027..221574202, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (221903096..222059275, complement)
RS_2024_09 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 H3K4me1 hESC enhancer GRCh37_chr2:221614001-221614501 Neighboring gene NANOG hESC enhancer GRCh37_chr2:221646461-221647002 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr2:221700003-221701202 Neighboring gene uncharacterized LOC107985990 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr2:221719713-221720912 Neighboring gene Sharpr-MPRA regulatory region 6063 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr2:221989613-221990137 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:222033741-222034242 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:222034243-222034742 Neighboring gene NANOG hESC enhancer GRCh37_chr2:222109712-222110223 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_57049 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:222236463-222236962 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr2:222289669-222290868 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr2:222332747-222333353 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr2:222333354-222333959 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:222381886-222383085 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:222391836-222392336 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12364 Neighboring gene transmembrane protein 256 pseudogene 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12365 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12366 Neighboring gene NANOG hESC enhancer GRCh37_chr2:222441193-222441705 Neighboring gene uncharacterized LOC105373897 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:222464565-222465068 Neighboring gene uncharacterized LOC105373899 Neighboring gene uncharacterized LOC105373898 Neighboring gene ribosomal protein L23 pseudogene 5

Genomic regions, transcripts, and products

Expression

  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

EBI GWAS Catalog

Description
Genome-wide association study identifies ephrin type A receptors implicated in paclitaxel induced peripheral sensory neuropathy.
EBI GWAS Catalog
Genome-wide SNP associations with rubella-specific cytokine responses in measles-mumps-rubella vaccine recipients.
EBI GWAS Catalog

Pathways from PubChem

Interactions

General gene information

Gene Ontology Provided by GOA

Items 1 - 25 of 30
Function Evidence Code Pubs
enables ATP binding  
enables DH domain binding PubMed 
enables GPI-linked ephrin receptor activity  
enables PH domain binding PubMed 
enables amyloid-beta binding PubMed 
enables boss receptor activity  
enables brain-derived neurotrophic factor receptor activity  
enables ephrin receptor binding  
enables epidermal growth factor receptor activity  
enables fibroblast growth factor receptor activity  
enables hepatocyte growth factor receptor activity  
enables histone H2AXY142 kinase activity  
enables histone H3Y41 kinase activity  
enables identical protein binding  
enables insulin receptor activity  
enables insulin-like growth factor receptor activity  
enables kinase activity PubMed 
enables macrophage colony-stimulating factor receptor activity  
enables placental growth factor receptor activity  
enables platelet-derived growth factor alpha-receptor activity  
enables platelet-derived growth factor beta-receptor activity  
enables protein binding PubMed 
enables protein kinase activity PubMed 
enables protein tyrosine kinase activity PubMed 
enables protein tyrosine kinase binding PubMed 
enables protein tyrosine kinase collagen receptor activity  
enables stem cell factor receptor activity  
enables transmembrane-ephrin receptor activity  
enables transmembrane-ephrin receptor activity  
enables vascular endothelial growth factor receptor activity  
Items 1 - 25 of 30
Items 1 - 25 of 60
Process Evidence Code Pubs
involved_in Kit signaling pathway  
involved_in adherens junction organization  
involved_in adult walking behavior  
involved_in axon guidance  
involved_in brain-derived neurotrophic factor receptor signaling pathway  
involved_in cell adhesion  
involved_in cellular response to amyloid-beta  
involved_in chromatin remodeling  
involved_in cochlea development  
involved_in collagen-activated tyrosine kinase receptor signaling pathway  
involved_in corticospinal tract morphogenesis  
involved_in ephrin receptor signaling pathway  
involved_in ephrin receptor signaling pathway PubMed 
involved_in epidermal growth factor receptor signaling pathway  
involved_in fasciculation of motor neuron axon  
involved_in fasciculation of sensory neuron axon  
involved_in fibroblast growth factor receptor signaling pathway  
involved_in glial cell migration  
involved_in hepatocyte growth factor receptor signaling pathway  
involved_in innervation  
involved_in insulin receptor signaling pathway  
involved_in insulin-like growth factor receptor signaling pathway  
involved_in macrophage colony-stimulating factor signaling pathway  
involved_in motor neuron axon guidance  
involved_in negative regulation of ERK1 and ERK2 cascade PubMed 
involved_in negative regulation of axon regeneration  
involved_in negative regulation of cell adhesion PubMed 
involved_in negative regulation of cell migration PubMed 
acts_upstream_of_or_within negative regulation of cellular response to hypoxia PubMed 
involved_in negative regulation of epithelial to mesenchymal transition PubMed 
involved_in negative regulation of long-term synaptic potentiation  
involved_in negative regulation of neuron apoptotic process  
involved_in negative regulation of neuron projection development  
involved_in negative regulation of proteolysis involved in protein catabolic process PubMed 
involved_in negative regulation of translation PubMed 
involved_in nephric duct morphogenesis  
involved_in neuron projection fasciculation  
involved_in neuron projection guidance  
involved_in peptidyl-tyrosine phosphorylation PubMed 
involved_in platelet-derived growth factor receptor-alpha signaling pathway  
involved_in platelet-derived growth factor receptor-beta signaling pathway  
involved_in positive regulation of Rho guanyl-nucleotide exchange factor activity PubMed 
involved_in positive regulation of amyloid-beta formation PubMed 
involved_in positive regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process PubMed 
involved_in positive regulation of cell adhesion PubMed 
involved_in positive regulation of cell migration PubMed 
involved_in positive regulation of cell population proliferation PubMed 
involved_in positive regulation of dendrite morphogenesis  
involved_in positive regulation of protein tyrosine kinase activity  
involved_in protein autophosphorylation PubMed 
involved_in protein stabilization PubMed 
involved_in regulation of GTPase activity  
involved_in regulation of astrocyte differentiation  
involved_in regulation of axonogenesis  
involved_in regulation of dendritic spine morphogenesis  
involved_in regulation of modification of synaptic structure  
involved_in regulation of synapse pruning  
involved_in synapse pruning  
involved_in vascular endothelial growth factor receptor-1 signaling pathway  
involved_in vascular endothelial growth factor signaling pathway  
Items 1 - 25 of 60
Items 1 - 20 of 23
Component Evidence Code Pubs
located_in Schaffer collateral - CA1 synapse  
located_in adherens junction  
located_in axon  
located_in axon terminus  
located_in axonal growth cone  
located_in cell surface  
located_in cytoplasm  
is_active_in dendrite  
located_in dendrite  
located_in dendritic shaft  
located_in dendritic spine  
located_in early endosome membrane  
located_in filopodium  
located_in glutamatergic synapse  
located_in mitochondrial outer membrane  
located_in neuromuscular junction  
located_in perikaryon  
is_active_in plasma membrane  
located_in plasma membrane  
located_in plasma membrane PubMed 
located_in plasma membrane  
located_in postsynaptic density membrane  
located_in presynaptic membrane  
Items 1 - 20 of 23

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
    A8K2P1, B2R601, B7Z6Q8, P54764, Q2M380
    UniProtKB/TrEMBL
    Q58F15
    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/TrEMBL
    Q58F15
    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
    UniProtKB/TrEMBL
    E9PG71, Q58F15
    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
    A8K2P1, B2R601, B7Z6Q8, P54764, Q2M380
    UniProtKB/TrEMBL
    Q58F15
    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: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

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

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    221903096..222059275 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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