U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from GEO Profiles

    • Showing Current items.

    GFRA3 GDNF family receptor alpha 3 [ Homo sapiens (human) ]

    Gene ID: 2676, updated on 9-Dec-2024

    Summary

    Official Symbol
    GFRA3provided by HGNC
    Official Full Name
    GDNF family receptor alpha 3provided by HGNC
    Primary source
    HGNC:HGNC:4245
    See related
    Ensembl:ENSG00000146013 MIM:605710; AllianceGenome:HGNC:4245
    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
    GDNFR3
    Summary
    The protein encoded by this gene is a glycosylphosphatidylinositol(GPI)-linked cell surface receptor and a member of the GDNF receptor family. It forms a signaling receptor complex with RET tyrosine kinase receptor and binds the ligand, artemin. [provided by RefSeq, Jul 2008]
    Expression
    Broad expression in testis (RPKM 2.5), colon (RPKM 2.3) and 18 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See GFRA3 in Genome Data Viewer
    Location:
    5q31.2
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (138252380..138274621, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (138778613..138800853, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (137588069..137610310, complement)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene bromodomain containing 8 Neighboring gene Sharpr-MPRA regulatory region 11877 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23195 Neighboring gene kinesin family member 20A Neighboring gene cell division cycle 23 Neighboring gene Sharpr-MPRA regulatory region 7870 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:137581186-137581778 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23196 Neighboring gene MPRA-validated peak5491 silencer Neighboring gene MPRA-validated peak5492 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16387 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16388 Neighboring gene RPS27A pseudogene 18 Neighboring gene cell division cycle 25C Neighboring gene ReSE screen-validated silencer GRCh37_chr5:137642973-137643148 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:137666651-137667604 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16389 Neighboring gene uncharacterized LOC100128966 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23199 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23200 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16390 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16391 Neighboring gene family with sequence similarity 53 member C

    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

    EBI GWAS Catalog

    Description
    Biological insights from 108 schizophrenia-associated genetic loci.
    EBI GWAS Catalog
    Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.
    EBI GWAS Catalog
    Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables axon guidance receptor activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables glial cell-derived neurotrophic factor receptor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables signaling receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables signaling receptor binding TAS
    Traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in axon guidance IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in glial cell-derived neurotrophic factor receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in nervous system development IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in neuron migration IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in peripheral nervous system development TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in signal transduction TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in sympathetic nervous system development IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    is_active_in external side of plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in extrinsic component of membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    is_active_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
     
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     
    part_of receptor complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    GDNF family receptor alpha-3
    Names
    GDNF receptor alpha-3
    GDNFR-alpha-3
    GFR-alpha-3
    GPI-linked receptor
    glial cell line-derived neurotrophic factor receptor alpha-3

    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_046894.1 RefSeqGene

      Range
      4944..27185
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001496.4NP_001487.2  GDNF family receptor alpha-3 preproprotein

      See identical proteins and their annotated locations for NP_001487.2

      Status: REVIEWED

      Source sequence(s)
      AC104116, AC106752, AW020606, AY359037, BC037951
      Consensus CDS
      CCDS4201.1
      UniProtKB/Swiss-Prot
      B2RA36, B4DMY9, O60609, Q6UW20, Q8IUZ2
      UniProtKB/TrEMBL
      A0AAQ5BI95
      Related
      ENSP00000274721.3, ENST00000274721.8
      Conserved Domains (2) summary
      smart00907
      Location:44124
      GDNF; GDNF/GAS1 domain
      pfam02351
      Location:248340
      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_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      138252380..138274621 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      138778613..138800853 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)