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    Gfra2 glial cell line derived neurotrophic factor family receptor alpha 2 [ Mus musculus (house mouse) ]

    Gene ID: 14586, updated on 9-Dec-2024

    Summary

    Official Symbol
    Gfra2provided by MGI
    Official Full Name
    glial cell line derived neurotrophic factor family receptor alpha 2provided by MGI
    Primary source
    MGI:MGI:1195462
    See related
    Ensembl:ENSMUSG00000022103 AllianceGenome:MGI:1195462
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Summary
    The protein encoded by this gene is part of the receptor complex that transduces glial cell-derived neurotrophic factor and neurturin signals by mediating autophosphorylation and activation of the RET receptor. Mice lacking this protein are viable and fertile but display growth retardation attributed to impaired salivary and pancreatic secretion and innervation deficits in the intestinal tract. In addition, knockout mice display neural defects including a failure to initiate outgrowth of dorsal ganglion root neurons, demonstrating a requirement in neuronal differentiation of these cells. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2014]
    Expression
    Broad expression in testis adult (RPKM 14.5), cortex adult (RPKM 10.9) and 22 other tissues See more
    Orthologs
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    Genomic context

    See Gfra2 in Genome Data Viewer
    Location:
    14 D2; 14 36.79 cM
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 14 NC_000080.7 (71127547..71217280)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 14 NC_000080.6 (70890107..70979840)

    Chromosome 14 - NC_000080.7Genomic Context describing neighboring genes Neighboring gene RIKEN cDNA 2410012E07 gene Neighboring gene predicted gene, 34500 Neighboring gene STARR-seq mESC enhancer starr_37094 Neighboring gene predicted gene, 34588 Neighboring gene CapStarr-seq enhancer MGSCv37_chr14:71363450-71363603 Neighboring gene CapStarr-seq enhancer MGSCv37_chr14:71394528-71394637 Neighboring gene STARR-seq mESC enhancer starr_37095 Neighboring gene predicted gene, 34703 Neighboring gene STARR-seq mESC enhancer starr_37097 Neighboring gene CapStarr-seq enhancer MGSCv37_chr14:71475540-71475723 Neighboring gene STARR-seq mESC enhancer starr_37098 Neighboring gene STARR-seq mESC enhancer starr_37099 Neighboring gene predicted gene, 34757

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (4) 
    • Targeted (2)  1 citation

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by MGI

    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 ISO
    Inferred from Sequence Orthology
    more info
     
    enables glial cell-derived neurotrophic factor receptor activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables heparan sulfate binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables heparan sulfate binding ISS
    Inferred from Sequence or Structural Similarity
    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 plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    part_of receptor complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in side of membrane IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    GDNF family receptor alpha-2
    Names
    GDNF receptor beta
    GDNFR-alpha-2
    GDNFR-beta
    GFR alpha 2
    NRTNR-alpha
    NTNR-alpha
    TGF-beta-related neurotrophic factor receptor 2
    neurturin receptor alpha

    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_001302094.1NP_001289023.1  GDNF family receptor alpha-2 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an in-frame exon in the 5' coding region. This results in a shorter protein (isoform 2) compared to isoform 1.
      Source sequence(s)
      AC124202, AI462772, AK138512, AK149349, BY257515
      UniProtKB/Swiss-Prot
      O08842
      UniProtKB/TrEMBL
      Q3UET6
      Conserved Domains (1) summary
      pfam02351
      Location:146242
      GDNF; GDNF/GAS1 domain
    2. NM_001302095.1NP_001289024.1  GDNF family receptor alpha-2 isoform 3 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks two consecutive in-frame exons in the 5' coding region compared to variant 1. This results in a shorter protein (isoform 3) compared to isoform 1. This isoform (3) may undergo proteolytic processing similar to isoform 1.
      Source sequence(s)
      AC124202, AI462772, AK138512, AK149349, BY257515, CN539269
      Consensus CDS
      CCDS88711.1
      UniProtKB/Swiss-Prot
      O08842
      UniProtKB/TrEMBL
      Q3UET6
      Related
      ENSMUSP00000154391.2, ENSMUST00000227697.2
      Conserved Domains (1) summary
      pfam02351
      Location:118214
      GDNF; GDNF/GAS1 domain
    3. NM_008115.3NP_032141.2  GDNF family receptor alpha-2 isoform 1 preproprotein

      See identical proteins and their annotated locations for NP_032141.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AC124202, AI462772, AK138512, AK149349, BY257515
      Consensus CDS
      CCDS27263.1
      UniProtKB/Swiss-Prot
      O08842, Q3UUD8, Q920Y3, Q9Z2A2, Q9Z2A3
      Related
      ENSMUSP00000022699.9, ENSMUST00000022699.10
      Conserved Domains (2) summary
      smart00907
      Location:40113
      GDNF; GDNF/GAS1 domain
      pfam02351
      Location:251347
      GDNF; GDNF/GAS1 domain

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000080.7 Reference GRCm39 C57BL/6J

      Range
      71127547..71217280
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)