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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

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