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

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: human all
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Genomic context

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_000080.7 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?

The cardiac GFRA2 signaling pathway is distinct from the canonical pathway dependent on the RET tyrosine kinase.
Title: GFRA2 Identifies Cardiac Progenitors and Mediates Cardiomyocyte Differentiation in a RET-Independent Signaling Pathway.
Ret and Gfra2 null mice display comparable early central projection deficits, but Gfra2 null rapidly adapting mechanoreceptors recover later.
Title: Cis and trans RET signaling control the survival and central projection growth of rapidly adapting mechanoreceptors.
neurons switch their GFRalpha signaling pathways during postnatal development
Title: Different requirements for GFRα2-signaling in three populations of cutaneous sensory neurons.
STAT3 phosphorylation by neurturin was found to be mediated specifically by GFRalpha2c and RET9 isoforms.
Title: GDNF family ligand dependent STAT3 activation is mediated by specific alternatively spliced isoforms of GFRα2 and RET.
Cholinergic innervation of gastric mucosa depends on neurturin-GFRalpha2 signalling but is dispensable for gastrin secretion and for basal and maximal acid output
Title: Lack of cholinergic innervation in gastric mucosa does not affect gastrin secretion or basal acid output in neurturin receptor GFRα2 deficient mice.
our data demonstrate that RET/GFRalpha signals are dispensable for thymic T cell development in vivo
Title: RET/GFRα signals are dispensable for thymic T cell development in vivo.
Increased apoptosis of parasympathetic but not enteric neurons in the developing pancreas of mice lacking GFRalpha2.
Title: Increased apoptosis of parasympathetic but not enteric neurons in mice lacking GFRalpha2.
Demonstrate a role for GFRalpha2-expressing enteric neurons in the downstream signaling of the glucagon-like peptides to inhibit GI motility, but not in intestinal growth.
Title: Role of glial cell-line derived neurotropic factor family receptor alpha2 in the actions of the glucagon-like peptides on the murine intestine.
The knockout mice of GFRalpha2 displayed significant impairment in contextual fear conditioning and conditioned taste aversion tests of memory.
Title: Impaired behavioural flexibility and memory in mice lacking GDNF family receptor alpha2.
Transduction-function role for GFR alpha2/neurturin signalling in a specific class of sensory neurons.
Title: GFR alpha2/neurturin signalling regulates noxious heat transduction in isolectin B4-binding mouse sensory neurons.

Submit: New GeneRIF Correction See all GeneRIFs (14)

Variation

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Alleles

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

Endonuclease-mediated (3)
Targeted (2) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D15Wox6 (e-PCR)
- UniSTS:239432

Gfra2 (e-PCR), detects polymorphism
- UniSTS:498380

Gfra2 (e-PCR), detects polymorphism
- UniSTS:498381

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 heparan sulfate binding	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	IGI Inferred from Genetic Interaction more info	PubMed
involved_in glial cell-derived neurotrophic factor receptor signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of protein autophosphorylation	ISO Inferred from Sequence Orthology more info
involved_in nervous system development	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within nervous system development	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 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-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)

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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_001302094.1 → NP_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:146 → 242

GDNF; GDNF/GAS1 domain
NM_001302095.1 → NP_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:118 → 214

GDNF; GDNF/GAS1 domain
NM_008115.3 → NP_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:40 → 113

GDNF; GDNF/GAS1 domain

pfam02351
Location:251 → 347

GDNF; GDNF/GAS1 domain