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    EPHA8 EPH receptor A8 [ Homo sapiens (human) ]

    Gene ID: 2046, updated on 17-Jun-2024

    Summary

    Official Symbol
    EPHA8provided by HGNC
    Official Full Name
    EPH receptor A8provided by HGNC
    Primary source
    HGNC:HGNC:3391
    See related
    Ensembl:ENSG00000070886 MIM:176945; AllianceGenome:HGNC:3391
    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
    EEK; EK3; HEK3
    Summary
    This gene encodes a member of 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. The protein encoded by this gene functions as a receptor for ephrin A2, A3 and A5 and plays a role in short-range contact-mediated axonal guidance during development of the mammalian nervous system. [provided by RefSeq, Jul 2008]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See EPHA8 in Genome Data Viewer
    Location:
    1p36.12
    Exon count:
    24
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (22563489..22603595)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (22387196..22428607)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (22889982..22930088)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105376856 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:22743723-22744638 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr1:22769377-22769994 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr1:22769995-22770614 Neighboring gene zinc finger and BTB domain containing 40 Neighboring gene Sharpr-MPRA regulatory region 2075 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:22778273-22778834 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:22791857-22792004 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:22880423-22881056 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:22881753-22882336 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:22882919-22883500 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:22883501-22884082 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:22890520-22891020 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:22898749-22899308 Neighboring gene Sharpr-MPRA regulatory region 15208 Neighboring gene microRNA 6127 Neighboring gene complement C1q A chain

    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?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • KIAA1459

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables GPI-linked ephrin receptor activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables ephrin receptor activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables growth factor binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables transmembrane-ephrin receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Process Evidence Code Pubs
    involved_in axon guidance IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in axon guidance ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cell adhesion IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to follicle-stimulating hormone stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in ephrin receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in ephrin receptor signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in neuron projection development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in neuron remodeling ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of MAPK cascade ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in protein phosphorylation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in regulation of cell adhesion ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of cell adhesion mediated by integrin ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in substrate-dependent cell migration ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    is_active_in dendrite IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in early endosome membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in neuron projection ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    ephrin type-A receptor 8
    Names
    EPH- and ELK-related kinase
    EPH- and ELK-related tyrosine kinase
    EPH-like kinase 3
    hydroxyaryl-protein kinase
    protein-tyrosine kinase
    tyrosine-protein kinase receptor EEK
    tyrosylprotein kinase
    NP_001006944.1
    NP_065387.1
    XP_011539271.1
    XP_011539272.1
    XP_011539274.1
    XP_011539275.1
    XP_011539277.1
    XP_054191008.1
    XP_054191009.1
    XP_054191010.1
    XP_054191011.1
    XP_054191012.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001006943.3NP_001006944.1  ephrin type-A receptor 8 isoform 2 precursor

      See identical proteins and their annotated locations for NP_001006944.1

      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 a frameshift. It encodes isoform 2, which has a shorter and distinct C-terminus compared to isoform 1. This transcript is supported by mRNA transcripts but the predicted ORF and its predicted precursor sequence have not yet been experimentally confirmed.
      Source sequence(s)
      AL035703, BC072417, DR007053
      Consensus CDS
      CCDS30626.1
      UniProtKB/Swiss-Prot
      P29322
      Related
      ENSP00000363775.4, ENST00000374644.8
      Conserved Domains (2) summary
      pfam00041
      Location:330418
      fn3; Fibronectin type III domain
      cl02704
      Location:31203
      EphR_LBD; Ligand Binding Domain of Ephrin Receptors
    2. NM_020526.5NP_065387.1  ephrin type-A receptor 8 isoform 1 precursor

      See identical proteins and their annotated locations for NP_065387.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AB040892, AL035703, BC072417, DR007053
      Consensus CDS
      CCDS225.1
      UniProtKB/Swiss-Prot
      P29322, Q6IN80, Q8IUX6, Q9NUA9, Q9P269
      Related
      ENSP00000166244.3, ENST00000166244.8
      Conserved Domains (8) summary
      cd09550
      Location:933995
      SAM_EPH-A8; SAM domain of EPH-A8 subfamily of tyrosine kinase receptors
      smart00454
      Location:934994
      SAM; Sterile alpha motif
      cd00063
      Location:440531
      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:630896
      PTKc_EphR_A; Catalytic domain of the Protein Tyrosine Kinases, Class EphA Ephrin Receptors
      pfam00041
      Location:330423
      fn3; Fibronectin type III domain
      pfam07714
      Location:635892
      Pkinase_Tyr; Protein tyrosine kinase
      pfam14575
      Location:566630
      EphA2_TM; Ephrin type-A receptor 2 transmembrane domain
      cl02704
      Location:31203
      EphR_LBD; Ligand Binding Domain of Ephrin Receptors

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      22563489..22603595
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011540969.2XP_011539271.1  ephrin type-A receptor 8 isoform X1

      See identical proteins and their annotated locations for XP_011539271.1

      Conserved Domains (8) summary
      cd09550
      Location:858920
      SAM_EPH-A8; SAM domain of EPH-A8 subfamily of tyrosine kinase receptors
      smart00454
      Location:859919
      SAM; Sterile alpha motif
      cd00063
      Location:365456
      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:555821
      PTKc_EphR_A; Catalytic domain of the Protein Tyrosine Kinases, Class EphA Ephrin Receptors
      pfam00041
      Location:255348
      fn3; Fibronectin type III domain
      pfam07714
      Location:560817
      Pkinase_Tyr; Protein tyrosine kinase
      pfam14575
      Location:491555
      EphA2_TM; Ephrin type-A receptor 2 transmembrane domain
      cl02704
      Location:1128
      EphR_LBD; Ligand Binding Domain of Ephrin Receptors
    2. XM_011540972.2XP_011539274.1  ephrin type-A receptor 8 isoform X1

      See identical proteins and their annotated locations for XP_011539274.1

      Conserved Domains (8) summary
      cd09550
      Location:858920
      SAM_EPH-A8; SAM domain of EPH-A8 subfamily of tyrosine kinase receptors
      smart00454
      Location:859919
      SAM; Sterile alpha motif
      cd00063
      Location:365456
      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:555821
      PTKc_EphR_A; Catalytic domain of the Protein Tyrosine Kinases, Class EphA Ephrin Receptors
      pfam00041
      Location:255348
      fn3; Fibronectin type III domain
      pfam07714
      Location:560817
      Pkinase_Tyr; Protein tyrosine kinase
      pfam14575
      Location:491555
      EphA2_TM; Ephrin type-A receptor 2 transmembrane domain
      cl02704
      Location:1128
      EphR_LBD; Ligand Binding Domain of Ephrin Receptors
    3. XM_011540970.2XP_011539272.1  ephrin type-A receptor 8 isoform X1

      See identical proteins and their annotated locations for XP_011539272.1

      Conserved Domains (8) summary
      cd09550
      Location:858920
      SAM_EPH-A8; SAM domain of EPH-A8 subfamily of tyrosine kinase receptors
      smart00454
      Location:859919
      SAM; Sterile alpha motif
      cd00063
      Location:365456
      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:555821
      PTKc_EphR_A; Catalytic domain of the Protein Tyrosine Kinases, Class EphA Ephrin Receptors
      pfam00041
      Location:255348
      fn3; Fibronectin type III domain
      pfam07714
      Location:560817
      Pkinase_Tyr; Protein tyrosine kinase
      pfam14575
      Location:491555
      EphA2_TM; Ephrin type-A receptor 2 transmembrane domain
      cl02704
      Location:1128
      EphR_LBD; Ligand Binding Domain of Ephrin Receptors
    4. XM_011540973.2XP_011539275.1  ephrin type-A receptor 8 isoform X1

      See identical proteins and their annotated locations for XP_011539275.1

      Conserved Domains (8) summary
      cd09550
      Location:858920
      SAM_EPH-A8; SAM domain of EPH-A8 subfamily of tyrosine kinase receptors
      smart00454
      Location:859919
      SAM; Sterile alpha motif
      cd00063
      Location:365456
      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:555821
      PTKc_EphR_A; Catalytic domain of the Protein Tyrosine Kinases, Class EphA Ephrin Receptors
      pfam00041
      Location:255348
      fn3; Fibronectin type III domain
      pfam07714
      Location:560817
      Pkinase_Tyr; Protein tyrosine kinase
      pfam14575
      Location:491555
      EphA2_TM; Ephrin type-A receptor 2 transmembrane domain
      cl02704
      Location:1128
      EphR_LBD; Ligand Binding Domain of Ephrin Receptors
    5. XM_011540975.4XP_011539277.1  ephrin type-A receptor 8 isoform X2

      Conserved Domains (4) summary
      cd09550
      Location:528590
      SAM_EPH-A8; SAM domain of EPH-A8 subfamily of tyrosine kinase receptors
      cd05066
      Location:225491
      PTKc_EphR_A; Catalytic domain of the Protein Tyrosine Kinases, Class EphA Ephrin Receptors
      pfam00041
      Location:34119
      fn3; Fibronectin type III domain
      pfam14575
      Location:161225
      EphA2_TM; Ephrin type-A receptor 2 transmembrane domain

    RNA

    1. XR_946576.3 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      22387196..22428607
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054335034.1XP_054191009.1  ephrin type-A receptor 8 isoform X1

    2. XM_054335035.1XP_054191010.1  ephrin type-A receptor 8 isoform X1

    3. XM_054335033.1XP_054191008.1  ephrin type-A receptor 8 isoform X1

    4. XM_054335036.1XP_054191011.1  ephrin type-A receptor 8 isoform X1

    5. XM_054335037.1XP_054191012.1  ephrin type-A receptor 8 isoform X2

    RNA

    1. XR_008485961.1 RNA Sequence