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GFRA2 GDNF family receptor alpha 2 [ Homo sapiens (human) ]

Gene ID: 2675, updated on 25-Nov-2021

Summary

Official Symbol
GFRA2provided by HGNC
Official Full Name
GDNF family receptor alpha 2provided by HGNC
Primary source
HGNC:HGNC:4244
See related
Ensembl:ENSG00000168546 MIM:601956
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
NTNRA; RETL2; TRNR2; GDNFRB; NRTNR-ALPHA
Summary
Glial cell line-derived neurotrophic factor (GDNF) and neurturin (NTN) are two structurally related, potent neurotrophic factors that play key roles in the control of neuron survival and differentiation. The protein encoded by this gene is a member of the GDNF receptor family. It is a glycosylphosphatidylinositol(GPI)-linked cell surface receptor for both GDNF and NTN, and mediates activation of the RET tyrosine kinase receptor. This encoded protein acts preferentially as a receptor for NTN compared to its other family member, GDNF family receptor alpha 1. This gene is a candidate gene for RET-associated diseases. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]
Expression
Broad expression in spleen (RPKM 6.1), thyroid (RPKM 5.3) and 19 other tissues See more
Orthologs
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Genomic context

See GFRA2 in Genome Data Viewer
Location:
8p21.3
Exon count:
11
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 8 NC_000008.11 (21690398..21789296, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (21547910..21646387, complement)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 10609 Neighboring gene uncharacterized LOC107986922 Neighboring gene olfactory receptor family 6 subfamily R member 2 pseudogene Neighboring gene uncharacterized LOC105379318

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
A genome-wide association study suggests an association of Chr8p21.3 (GFRA2) with diabetic neuropathic pain.
GeneReviews: Not available
Genome-wide association with MRI atrophy measures as a quantitative trait locus for Alzheimer's disease.
GeneReviews: Not available
Genome-wide meta-analysis identifies new susceptibility loci for migraine.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables glial cell-derived neurotrophic factor receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables signaling receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
located_in anchored component of membrane IEA
Inferred from Electronic Annotation
more info
 
is_active_in external side of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in extrinsic component of membrane TAS
Traceable Author Statement
more info
PubMed 
located_in plasma membrane TAS
Traceable Author Statement
more info
 
part_of receptor complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
GDNF family receptor alpha-2
Names
GDNF receptor beta
GDNFR-alpha-2
GDNFR-beta
GFR-alpha 2
NTNR-alpha
PI-linked cell-surface accessory protein
RET ligand 2
TGF-beta-related neurotrophic factor receptor 2
TRN receptor, GPI-anchored
glial cell line derived neurotrophic factor receptor, beta
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.

Genomic

  1. NG_029215.2 RefSeqGene

    Range
    4960..103437
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001165038.2NP_001158510.1  GDNF family receptor alpha-2 isoform b precursor

    See identical proteins and their annotated locations for NP_001158510.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 5' coding region, compared to variant 1. The resulting isoform (b) lacks an internal segment near the N-terminus, compared to isoform a. It is not known if this variant is targeted to the cell membrane.
    Source sequence(s)
    AC105186, AC129925, AY941828, BC041688
    Consensus CDS
    CCDS55208.1
    UniProtKB/Swiss-Prot
    O00451
    Related
    ENSP00000429979.1, ENST00000517892.5
    Conserved Domains (1) summary
    pfam02351
    Location:146242
    GDNF; GDNF/GAS1 domain
  2. NM_001165039.2NP_001158511.1  GDNF family receptor alpha-2 isoform c precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks two alternate in-frame exons in the 5' coding region, compared to variant 1. The resulting isoform (c) lacks an internal segment near the N-terminus, compared to isoform a. It is not known if this variant is targeted to the cell membrane.
    Source sequence(s)
    AC105186, AC129925, AY326396, BC041688
    Consensus CDS
    CCDS55207.1
    UniProtKB/Swiss-Prot
    O00451
    Related
    ENSP00000429206.1, ENST00000518077.5
    Conserved Domains (1) summary
    pfam02351
    Location:118214
    GDNF; GDNF/GAS1 domain
  3. NM_001495.5NP_001486.4  GDNF family receptor alpha-2 isoform a preproprotein

    See identical proteins and their annotated locations for NP_001486.4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
    Source sequence(s)
    AC105186, AC129925, BC041688
    Consensus CDS
    CCDS47816.1
    UniProtKB/Swiss-Prot
    O00451
    Related
    ENSP00000428518.1, ENST00000524240.6
    Conserved Domains (2) summary
    smart00907
    Location:40113
    GDNF; GDNF/GAS1 domain
    pfam02351
    Location:251347
    GDNF; GDNF/GAS1 domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p13 Primary Assembly

    Range
    21690398..21789296 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006716327.3XP_006716390.1  GDNF family receptor alpha-2 isoform X1

    See identical proteins and their annotated locations for XP_006716390.1

    UniProtKB/Swiss-Prot
    O00451
    Related
    ENSP00000429445.1, ENST00000517328.5
    Conserved Domains (2) summary
    smart00907
    Location:40113
    GDNF; GDNF/GAS1 domain
    pfam02351
    Location:251347
    GDNF; GDNF/GAS1 domain
  2. XM_011544484.2XP_011542786.1  GDNF family receptor alpha-2 isoform X1

    See identical proteins and their annotated locations for XP_011542786.1

    UniProtKB/Swiss-Prot
    O00451
    Conserved Domains (2) summary
    smart00907
    Location:40113
    GDNF; GDNF/GAS1 domain
    pfam02351
    Location:251347
    GDNF; GDNF/GAS1 domain
  3. XM_024447127.1XP_024302895.1  GDNF family receptor alpha-2 isoform X2

    Conserved Domains (1) summary
    pfam02351
    Location:180276
    GDNF; GDNF/GAS1 domain
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