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

Summary

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

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_000068.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (2)
Targeted (1) 1 citation

General gene information

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Markers

NoName (e-PCR)
- UniSTS:489221

AW060733 (e-PCR)
- UniSTS:178714

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 glial cell-derived neurotrophic factor receptor activity	ISS Inferred from Sequence or Structural Similarity 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
involved_in glial cell-derived neurotrophic factor receptor signaling pathway	ISS Inferred from Sequence or Structural Similarity 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 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)

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

Status: REVIEWED

Source sequence(s)

AL833771

Related

ENSMUST00000156509.2
NM_001407239.1 → NP_001394168.1 GDNF family receptor alpha-4 isoform 6

Status: REVIEWED

Source sequence(s)

AL833771
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