Format

Send to:

Choose Destination

EPHA3 EPH receptor A3 [ Homo sapiens (human) ]

Gene ID: 2042, updated on 27-Dec-2018

Summary

Official Symbol
EPHA3provided by HGNC
Official Full Name
EPH receptor A3provided by HGNC
Primary source
HGNC:HGNC:3387
See related
Ensembl:ENSG00000044524 MIM:179611
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
EK4; ETK; HEK; ETK1; HEK4; TYRO4
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. This gene encodes a protein that binds ephrin-A ligands. Two alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Jul 2008]
Expression
Broad expression in prostate (RPKM 12.7), gall bladder (RPKM 11.9) and 18 other tissues See more
Orthologs

Genomic context

See EPHA3 in Genome Data Viewer
Location:
3p11.1
Exon count:
17
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 3 NC_000003.12 (89107524..89482134)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (89156674..89531284)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene interactor of little elongation complex ELL subunit 2 pseudogene 2 Neighboring gene glyceraldehyde 3 phosphate dehydrogenase pseudogene 50 Neighboring gene MT-ATP6 pseudogene 6 Neighboring gene MT-CO3 pseudogene 6

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 FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Genome-wide association study of chronic periodontitis in a general German population.
NHGRI GWA Catalog
Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci.
NHGRI GWA Catalog

Pathways from BioSystems

  • 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
  • NRF2 pathway, organism-specific biosystem (from WikiPathways)
    NRF2 pathway, organism-specific biosystemNRF2 is part of a group of transcription factors called nuclear receptors. It is activated under oxidative stress conditions and subsequently activates several antioxidative genes and proteins.

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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 IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
transmembrane receptor protein tyrosine kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
transmembrane-ephrin receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
axon guidance IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cell adhesion IEA
Inferred from Electronic Annotation
more info
 
cell migration ISS
Inferred from Sequence or Structural Similarity
more info
 
cellular response to retinoic acid IMP
Inferred from Mutant Phenotype
more info
PubMed 
ephrin receptor signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
ephrin receptor signaling pathway TAS
Traceable Author Statement
more info
 
fasciculation of motor neuron axon ISS
Inferred from Sequence or Structural Similarity
more info
 
fasciculation of sensory neuron axon ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of endocytosis IDA
Inferred from Direct Assay
more info
PubMed 
peptidyl-tyrosine phosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of neuron projection development IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of protein localization to plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
regulation of GTPase activity IDA
Inferred from Direct Assay
more info
PubMed 
regulation of actin cytoskeleton organization IDA
Inferred from Direct Assay
more info
PubMed 
regulation of epithelial to mesenchymal transition ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of focal adhesion assembly IDA
Inferred from Direct Assay
more info
PubMed 
regulation of microtubule cytoskeleton organization IDA
Inferred from Direct Assay
more info
PubMed 
transmembrane receptor protein tyrosine kinase signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
early endosome IDA
Inferred from Direct Assay
more info
PubMed 
extracellular region IEA
Inferred from Electronic Annotation
more info
 
integral component of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
integral component of plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
neuron projection IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 
receptor complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
ephrin type-A receptor 3
Names
EPH-like kinase 4
TYRO4 protein tyrosine kinase
eph-like tyrosine kinase 1
human embryo kinase 1
testicular tissue protein Li 64
tyrosine-protein kinase receptor ETK1
NP_005224.2
NP_872585.1
XP_005264772.1
XP_005264773.1

NCBI Reference Sequences (RefSeq)

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_023239.2 RefSeqGene

    Range
    5001..379611
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_005233.6NP_005224.2  ephrin type-A receptor 3 isoform a precursor

    See identical proteins and their annotated locations for NP_005224.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (a).
    Source sequence(s)
    AF213459, BC063282
    Consensus CDS
    CCDS2922.1
    UniProtKB/Swiss-Prot
    P29320
    UniProtKB/TrEMBL
    A0A140VJJ0, Q6P4R6
    Related
    ENSP00000337451.2, ENST00000336596.6
    Conserved Domains (8) summary
    smart00454
    Location:908975
    SAM; Sterile alpha motif
    cd10481
    Location:29201
    EphR_LBD_A3; Ligand Binding Domain of Ephrin type-A Receptor 3
    cd00063
    Location:437528
    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
    pfam00041
    Location:327417
    fn3; Fibronectin type III domain
    pfam07714
    Location:621878
    Pkinase_Tyr; Protein tyrosine kinase
    pfam14575
    Location:555616
    EphA2_TM; Ephrin type-A receptor 2 transmembrane domain
    cl15755
    Location:912974
    SAM_superfamily; SAM (Sterile alpha motif )
  2. NM_182644.2NP_872585.1  ephrin type-A receptor 3 isoform b precursor

    See identical proteins and their annotated locations for NP_872585.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate splice site in the 3' coding region, compared to variant 1, that results in missing several 3' exons. It encodes isoform b which has a shorter and distinct C-terminus compared to isoform a. This isoform lacks a transmembrane domain and may be a secreted form of the Epha3 receptor.
    Source sequence(s)
    AC109129, AF213459
    Consensus CDS
    CCDS46875.1
    UniProtKB/Swiss-Prot
    P29320
    Related
    ENSP00000399926.2, ENST00000452448.6
    Conserved Domains (4) summary
    cd10481
    Location:29201
    EphR_LBD_A3; Ligand Binding Domain of Ephrin type-A Receptor 3
    cd00063
    Location:437528
    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 ...
    pfam00041
    Location:327417
    fn3; Fibronectin type III domain
    pfam07699
    Location:269304
    GCC2_GCC3; GCC2 and GCC3

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p12 Primary Assembly

    Range
    89107524..89482134
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005264715.3XP_005264772.1  ephrin type-A receptor 3 isoform X1

    Conserved Domains (8) summary
    smart00454
    Location:907974
    SAM; Sterile alpha motif
    cd10481
    Location:29201
    EphR_LBD_A3; Ligand Binding Domain of Ephrin type-A Receptor 3
    cd00063
    Location:437527
    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:615881
    PTKc_EphR_A; Catalytic domain of the Protein Tyrosine Kinases, Class EphA Ephrin Receptors
    pfam00041
    Location:327417
    fn3; Fibronectin type III domain
    pfam07714
    Location:620877
    Pkinase_Tyr; Protein tyrosine kinase
    pfam14575
    Location:554615
    EphA2_TM; Ephrin type-A receptor 2 transmembrane domain
    cl15755
    Location:911973
    SAM_superfamily; SAM (Sterile alpha motif )
  2. XM_005264716.3XP_005264773.1  ephrin type-A receptor 3 isoform X2

    UniProtKB/TrEMBL
    C9JXA2
    Related
    ENSP00000419190.1, ENST00000494014.1
    Conserved Domains (6) summary
    cd10481
    Location:29201
    EphR_LBD_A3; Ligand Binding Domain of Ephrin type-A Receptor 3
    cd00063
    Location:437528
    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
    pfam00041
    Location:327417
    fn3; Fibronectin type III domain
    pfam07714
    Location:621878
    Pkinase_Tyr; Protein tyrosine kinase
    pfam14575
    Location:555616
    EphA2_TM; Ephrin type-A receptor 2 transmembrane domain
Support Center