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

    Gene ID: 2675, updated on 10-Dec-2024

    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; AllianceGenome:HGNC:4244
    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
    NEW
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    Genomic context

    See GFRA2 in Genome Data Viewer
    Location:
    8p21.3
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (21690398..21812345, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (21961568..22086203, complement)
    RS_2024_09 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 long intergenic non-protein coding RNA 3093 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr8:21227350-21227872 Neighboring gene ReSE screen-validated silencer GRCh37_chr8:21323916-21324086 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr8:21349495-21350694 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_102756 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:21406697-21407198 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:21407199-21407698 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:21417498-21418697 Neighboring gene uncharacterized LOC107986922 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:21507398-21507984 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:21550331-21550831 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:21584471-21584972 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_102784 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_102790 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:21625596-21626586 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:21639775-21640276 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:21683000-21683544 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:21683545-21684088 Neighboring gene olfactory receptor family 6 subfamily R member 2 pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27067 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27068 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18973 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:21761370-21762198 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27069 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18974 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:21802075-21802708 Neighboring gene uncharacterized LOC124901903 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:21806752-21807252 Neighboring gene docking protein 2 Neighboring gene exportin 7

    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

    BioGRID CRISPR Screen Phenotypes (20 hits/1259 screens)

    EBI GWAS Catalog

    Description
    A genome-wide association study suggests an association of Chr8p21.3 (GFRA2) with diabetic neuropathic pain.
    EBI GWAS Catalog
    Genome-wide association with MRI atrophy measures as a quantitative trait locus for Alzheimer's disease.
    EBI GWAS Catalog
    Genome-wide meta-analysis identifies new susceptibility loci for migraine.
    EBI GWAS Catalog

    Interactions

    General gene information

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    is_active_in external side of plasma membrane  
    located_in extrinsic component of membrane PubMed 
    is_active_in plasma membrane PubMed 
    located_in plasma membrane  
    part_of receptor complex  

    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)

    NEW Try the new Transcript table

    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_029215.3 RefSeqGene

      Range
      28470..126947
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

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

      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/TrEMBL
      B4DS89
      Related
      ENSP00000429979.1, ENST00000517892.5
      Conserved Domains (1) summary
      pfam02351
      Location:146 → 242
      GDNF; GDNF/GAS1 domain
    2. NM_001165039.2 → NP_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/TrEMBL
      B4DS89
      Related
      ENSP00000429206.1, ENST00000518077.5
      Conserved Domains (1) summary
      pfam02351
      Location:118 → 214
      GDNF; GDNF/GAS1 domain
    3. NM_001495.5 → NP_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
      E9PD47, O00451, O15316, O15328, Q58J92, Q6GTR9, Q7Z5C2
      Related
      ENSP00000428518.1, ENST00000524240.6
      Conserved Domains (2) summary
      smart00907
      Location:40 → 113
      GDNF; GDNF/GAS1 domain
      pfam02351
      Location:251 → 347
      GDNF; GDNF/GAS1 domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      21690398..21812345 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047421687.1 → XP_047277643.1  GDNF family receptor alpha-2 isoform X1

      UniProtKB/Swiss-Prot
      E9PD47, O00451, O15316, O15328, Q58J92, Q6GTR9, Q7Z5C2
      Related
      ENSP00000429445.1, ENST00000517328.5
    2. XM_006716327.4 → XP_006716390.1  GDNF family receptor alpha-2 isoform X1

      See identical proteins and their annotated locations for XP_006716390.1

      UniProtKB/Swiss-Prot
      E9PD47, O00451, O15316, O15328, Q58J92, Q6GTR9, Q7Z5C2
      Conserved Domains (2) summary
      smart00907
      Location:40 → 113
      GDNF; GDNF/GAS1 domain
      pfam02351
      Location:251 → 347
      GDNF; GDNF/GAS1 domain
    3. XM_011544484.3 → XP_011542786.1  GDNF family receptor alpha-2 isoform X1

      See identical proteins and their annotated locations for XP_011542786.1

      UniProtKB/Swiss-Prot
      E9PD47, O00451, O15316, O15328, Q58J92, Q6GTR9, Q7Z5C2
      Conserved Domains (2) summary
      smart00907
      Location:40 → 113
      GDNF; GDNF/GAS1 domain
      pfam02351
      Location:251 → 347
      GDNF; GDNF/GAS1 domain
    4. XM_024447127.2 → XP_024302895.1  GDNF family receptor alpha-2 isoform X2

      UniProtKB/TrEMBL
      B4DS89
      Conserved Domains (1) summary
      pfam02351
      Location:180 → 276
      GDNF; GDNF/GAS1 domain

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      21961568..22086203 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054360282.1 → XP_054216257.1  GDNF family receptor alpha-2 isoform X1

    2. XM_054360280.1 → XP_054216255.1  GDNF family receptor alpha-2 isoform X1

    3. XM_054360281.1 → XP_054216256.1  GDNF family receptor alpha-2 isoform X1

    4. XM_054360283.1 → XP_054216258.1  GDNF family receptor alpha-2 isoform X2

      UniProtKB/TrEMBL
      B4DS89
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