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    Gfra4 glial cell line derived neurotrophic factor family receptor alpha 4 [ Mus musculus (house mouse) ]

    Gene ID: 14588, updated on 11-Apr-2024

    Summary

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    Official Symbol
    Gfra4provided by MGI
    Official Full Name
    glial cell line derived neurotrophic factor family receptor alpha 4provided by MGI
    Primary source
    MGI:MGI:1341873
    See related
    Ensembl:ENSMUSG00000027316 AllianceGenome:MGI:1341873
    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
    Also known as
    G630015H18Rik
    Summary
    This gene encodes a transmembrane protein that functions as the receptor for persephin, a member of the glial cell line derived neurotrophic factors. The encoded protein undergoes proteolytic processing to generate a glycosylphosphatidylinositol-anchored cell surface coreceptor that forms a complex with the receptor tyrosine kinase Ret. A complete lack of the encoded protein impairs production of thyroid calcitonin and increases the rate of bone formation in young mice. [provided by RefSeq, Jul 2016]
    Expression
    Broad expression in cortex adult (RPKM 25.3), bladder adult (RPKM 24.6) and 22 other tissues See more
    Orthologs
    human all
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    Genomic context

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    Location:
    2 F1; 2 63.26 cM
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 2 NC_000068.8 (130881552..130885008, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 2 NC_000068.7 (131039632..131043088, complement)

    Chromosome 2 - NC_000068.8Genomic Context describing neighboring genes Neighboring gene attractin Neighboring gene predicted gene, 30286 Neighboring gene predicted gene, 39937 Neighboring gene microRNA 6973b Neighboring gene a disintegrin and metallopeptidase domain 33 Neighboring gene sialic acid binding Ig-like lectin 1, sialoadhesin

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. Mammalian GFRalpha -4, a divergent member of the GFRalpha family of coreceptors for glial cell line-derived neurotrophic factor family ligands, is a receptor for the neurotrophic factor persephin. Masure S, et al. J Biol Chem, 2000 Dec 15. PMID 10958791
    2. PSPN/GFRalpha4 has a significantly weaker capacity than GDNF/GFRalpha1 to recruit RET to rafts, but promotes neuronal survival and neurite outgrowth. Yang J, et al. FEBS Lett, 2004 Jul 2. PMID 15225646
    3. Expression and alternative splicing of mouse Gfra4 suggest roles in endocrine cell development. Lindahl M, et al. Mol Cell Neurosci, 2000 Jun. PMID 10860579
    4. Ablation of persephin receptor glial cell line-derived neurotrophic factor family receptor alpha4 impairs thyroid calcitonin production in young mice. Lindfors PH, et al. Endocrinology, 2006 May. PMID 16497798
    5. A rapid and dynamic regulation of GDNF-family ligands and receptors correlate with the developmental dependency of cutaneous sensory innervation. Fundin BT, et al. Development, 1999 Jun. PMID 10331972

    See all (21) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. GFRalpha4 signaling has a role in regulating calcitonin production in thyroid C cells of young mice
      Title: Ablation of persephin receptor glial cell line-derived neurotrophic factor family receptor alpha4 impairs thyroid calcitonin production in young mice.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

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

    Pathways from PubChem

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    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables coreceptor activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    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 signaling receptor activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    acts_upstream_of_or_within cell surface receptor protein tyrosine kinase signaling pathway TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in glial cell-derived neurotrophic factor receptor signaling pathway ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within negative regulation of ossification IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in nervous system development IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of ossification IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    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
    		  
    located_in extracellular space ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in membrane IEA
    Inferred from Electronic Annotation
    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

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

    NCBI Reference Sequences (RefSeq)

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    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_001136063.2 → NP_001129535.1  GDNF family receptor alpha-4 isoform 1 precursor

      See identical proteins and their annotated locations for NP_001129535.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) has an alternate first coding exon compared to variant 2. The resulting isoform (1) has a shorter and distinct N-terminus compared to isoform 2.
      Source sequence(s)
      AI553572, AJ276871, AK090192
      Consensus CDS
      CCDS50715.1
      UniProtKB/TrEMBL
      A5D8Z1
      Related
      ENSMUSP00000105869.4, ENSMUST00000110240.10
      Conserved Domains (1) summary
      pfam02351
      Location:123 → 217
      GDNF; GDNF/GAS1 domain

    2. NM_001271001.1 → NP_001257930.1  GDNF family receptor alpha-4 isoform 3 preproprotein

      See identical proteins and their annotated locations for NP_001257930.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) has an alternate first coding exon and uses an alternate splice junction at the 5' end of the last exon compared to variant 2. The resulting isoform (3) has shorter and distinct N- and C-termini compared to isoform 2.
      Source sequence(s)
      AI553572, AJ276870, AK090192
      Consensus CDS
      CCDS59638.1
      UniProtKB/Swiss-Prot
      A2AP44, A2AP46, A2AP47, A2AP49, Q9JJT2, Q9JJT3, Q9JJT4, Q9JJT6, Q9JJT7, Q9JJT8
      Related
      ENSMUSP00000068357.5, ENSMUST00000066958.11
      Conserved Domains (1) summary
      pfam02351
      Location:123 → 217
      GDNF; GDNF/GAS1 domain

    3. NM_001271002.1 → NP_001257931.1  GDNF family receptor alpha-4 isoform 4

      See identical proteins and their annotated locations for NP_001257931.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) uses an alternate splice junction at the 5' end of the last exon compared to variant 2. The resulting isoform (4) has a shorter and distinct C-terminus compared to isoform 2.
      Source sequence(s)
      AI553572, AJ276514, AK090192
      Consensus CDS
      CCDS59637.1
      UniProtKB/TrEMBL
      Q2M2Q9
      Related
      ENSMUSP00000105868.2, ENSMUST00000110239.8
      Conserved Domains (1) summary
      pfam02351
      Location:132 → 226
      GDNF; GDNF/GAS1 domain

    4. NM_001407238.1 → NP_001394167.1  GDNF family receptor alpha-4 isoform 5

      Status: REVIEWED

      Source sequence(s)
      AL833771
      Related
      ENSMUST00000156509.2

    5. NM_001407239.1 → NP_001394168.1  GDNF family receptor alpha-4 isoform 6

      Status: REVIEWED

      Source sequence(s)
      AL833771

    6. NM_020014.2 → NP_064398.1  GDNF family receptor alpha-4 isoform 2

      See identical proteins and their annotated locations for NP_064398.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) represents the longest transcript and encodes the longest isoform (2).
      Source sequence(s)
      AI553572, AJ276516, AK090192
      Consensus CDS
      CCDS16752.1
      UniProtKB/TrEMBL
      A2AP45, Q2M2Q9
      Related
      ENSMUSP00000028787.6, ENSMUST00000028787.12
      Conserved Domains (1) summary
      pfam02351
      Location:132 → 226
      GDNF; GDNF/GAS1 domain

    RNA

    1. NR_176292.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL833771

    2. NR_176293.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL833771

    3. NR_176294.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL833771

    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_000068.8 Reference GRCm39 C57BL/6J

      Range
      130881552..130885008 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9JJT2.2 GenPept UniProtKB/Swiss-Prot:Q9JJT2

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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