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    EFNA4 ephrin A4 [ Homo sapiens (human) ]

    Gene ID: 1945, updated on 13-Mar-2020

    Summary

    Official Symbol
    EFNA4provided by HGNC
    Official Full Name
    ephrin A4provided by HGNC
    Primary source
    HGNC:HGNC:3224
    See related
    Ensembl:ENSG00000243364 MIM:601380
    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
    EFL4; EPLG4; LERK4
    Summary
    This gene encodes a member of the ephrin (EPH) family. The ephrins and EPH-related receptors comprise the largest subfamily of receptor protein-tyrosine kinases and have been implicated in mediating developmental events, especially in the nervous system and in erythropoiesis. Based on their structures and sequence relationships, ephrins are divided into the ephrin-A (EFNA) class, which are anchored to the membrane by a glycosylphosphatidylinositol linkage, and the ephrin-B (EFNB) class, which are transmembrane proteins. This gene encodes an EFNA class ephrin. Three transcript variants that encode distinct proteins have been identified. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in skin (RPKM 7.7), colon (RPKM 6.4) and 23 other tissues See more
    Orthologs

    Genomic context

    See EFNA4 in Genome Data Viewer
    Location:
    1q21.3
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    109.20200228 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (155063740..155069553)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (155036213..155042029)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene DC-STAMP domain containing 1 Neighboring gene DCST1 antisense RNA 1 Neighboring gene ADAM metallopeptidase domain 15 Neighboring gene ephrin A3 Neighboring gene ephrin A1

    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

    NHGRI GWAS Catalog

    Description
    Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array.
    NHGRI GWA Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Potential readthrough

    Included gene: EFNA3

    Homology

    Clone Names

    • FLJ57652, MGC125826

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ephrin receptor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    ephrin receptor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    transmembrane-ephrin receptor activity TAS
    Traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    axon guidance IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    bone remodeling IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cell-cell signaling TAS
    Traceable Author Statement
    more info
    PubMed 
    ephrin receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    ephrin receptor signaling pathway TAS
    Traceable Author Statement
    more info
     
    osteoclast differentiation IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Component Evidence Code Pubs
    anchored component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    extracellular region IEA
    Inferred from Electronic Annotation
    more info
     
    intrinsic component of plasma membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    plasma membrane TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    ephrin-A4
    Names
    LERK-4
    eph-related receptor tyrosine kinase ligand 4
    ligand of eph-related kinase 4

    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_029561.1 RefSeqGene

      Range
      5004..10817
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_005227.3NP_005218.1  ephrin-A4 isoform a precursor

      See identical proteins and their annotated locations for NP_005218.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1), also known as ephrin-A4 (m), is the longest transcript and it encodes isoform a. Isoform a is a membrane-bound protein.
      Source sequence(s)
      AI459151, BE780161, BQ940212, CD671399
      Consensus CDS
      CCDS1089.1
      UniProtKB/Swiss-Prot
      P52798
      Related
      ENSP00000357394.3, ENST00000368409.8
      Conserved Domains (1) summary
      cd10425
      Location:27152
      Ephrin-A_Ectodomain; Ectodomain of Ephrin A
    2. NM_182689.2NP_872631.1  ephrin-A4 isoform b precursor

      See identical proteins and their annotated locations for NP_872631.1

      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 downstream translation termination. It encodes isoform b which has a little longer and distinct C-terminus compared to isoform a.
      Source sequence(s)
      AI459151, BE780161, BM740848, BQ940212
      Consensus CDS
      CCDS44237.1
      UniProtKB/Swiss-Prot
      P52798
      Related
      ENSP00000414378.2, ENST00000427683.2
      Conserved Domains (1) summary
      cd10425
      Location:27152
      Ephrin-A_Ectodomain; Ectodomain of Ephrin A
    3. NM_182690.3NP_872632.2  ephrin-A4 isoform c precursor

      See identical proteins and their annotated locations for NP_872632.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3), also known as ephrin-A4 (s), uses an alternate splice site in the 3' coding region, compared to variant 1, that results in a downstream translation termination. It encodes isoform c which has a distinct and slightly shorter C-terminus compared to isoform a. Isoform c lacks a characteristic transmembrane domain and the GPI-signal sequence contained in isoform a. Isoform c is a secreted molecule.
      Source sequence(s)
      AJ006353, AL691442, BM740848
      Consensus CDS
      CCDS41407.1
      UniProtKB/Swiss-Prot
      P52798
      Related
      ENSP00000352789.4, ENST00000359751.8
      Conserved Domains (1) summary
      cd10425
      Location:27152
      Ephrin-A_Ectodomain; Ectodomain of Ephrin A

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

      Range
      155063740..155069553
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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