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    GFRA4 GDNF family receptor alpha 4 [ Homo sapiens (human) ]

    Gene ID: 64096, updated on 9-Dec-2024

    Summary

    Official Symbol
    GFRA4provided by HGNC
    Official Full Name
    GDNF family receptor alpha 4provided by HGNC
    Primary source
    HGNC:HGNC:13821
    See related
    Ensembl:ENSG00000125861 MIM:618679; AllianceGenome:HGNC:13821
    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
    Summary
    The protein encoded by this gene is a member of the GDNF receptor family. It is a glycosylphosphatidylinositol(GPI)-linked cell surface receptor for persephin, and mediates activation of the RET tyrosine kinase receptor. This gene is a candidate gene for RET-associated diseases. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [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 GFRA4 in Genome Data Viewer
    Location:
    20p13
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (3659248..3663399, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (3690188..3694336, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (3639895..3644046, complement)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17480 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12621 Neighboring gene TCEAL9 pseudogene 1 Neighboring gene attractin Neighboring gene splicing factor 3a, subunit 3 pseudogene 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr20:3601641-3601840 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17481 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12623 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12622 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr20:3647557-3648086 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:3651223-3651828 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:3657784-3658386 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:3658990-3659591 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:3662082-3662975 Neighboring gene ADAM metallopeptidase domain 33 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:3678505-3679004 Neighboring gene Sharpr-MPRA regulatory region 3812 Neighboring gene sialic acid binding Ig like lectin 1

    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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables glial cell-derived neurotrophic factor receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables glial cell-derived neurotrophic factor receptor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in glial cell-derived neurotrophic factor receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of ossification IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in nervous system development IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in ossification IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    is_active_in external side of plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     
    part_of receptor complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    GDNF family receptor alpha-4
    Names
    GDNF receptor alpha-4
    GDNFR-alpha-4
    GFR receptor alpha 4
    GFR-alpha-4
    persephin receptor

    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_022139.4NP_071422.1  GDNF family receptor alpha-4 isoform a precursor

      See identical proteins and their annotated locations for NP_071422.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the predominant isoform (a).
      Source sequence(s)
      AF253318, AL356755
      Consensus CDS
      CCDS13055.1
      UniProtKB/Swiss-Prot
      Q9GZZ7
      Related
      ENSP00000290417.2, ENST00000290417.7
      Conserved Domains (1) summary
      pfam02351
      Location:117211
      GDNF; GDNF/GAS1 domain
    2. NM_145762.3NP_665705.1  GDNF family receptor alpha-4 isoform b precursor

      See identical proteins and their annotated locations for NP_665705.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) includes additional segments in the coding region compared to variant 1, that cause internal frameshift. The resulting isoform (b) contains additional aa in the middle of the protein, but has the same N- and C-terminal ends as isoform a.
      Source sequence(s)
      AJ291674, AL356755
      Consensus CDS
      CCDS13056.1
      UniProtKB/Swiss-Prot
      Q5JT74, Q9GZZ7, Q9H191, Q9H192
      Related
      ENSP00000313423.3, ENST00000319242.8
      Conserved Domains (1) summary
      pfam02351
      Location:202241
      GDNF; GDNF/GAS1 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_000020.11 Reference GRCh38.p14 Primary Assembly

      Range
      3659248..3663399 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005260793.2XP_005260850.1  GDNF family receptor alpha-4 isoform X1

      See identical proteins and their annotated locations for XP_005260850.1

      UniProtKB/Swiss-Prot
      Q9GZZ7
      Related
      ENSP00000435801.1, ENST00000477160.1
      Conserved Domains (2) summary
      smart00907
      Location:117170
      GDNF; GDNF/GAS1 domain
      pfam02351
      Location:26105
      GDNF; GDNF/GAS1 domain

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060944.1 Alternate T2T-CHM13v2.0

      Range
      3690188..3694336 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054323832.1XP_054179807.1  GDNF family receptor alpha-4 isoform X1

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_145763.1: Suppressed sequence

      Description
      NM_145763.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.