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

Gene ID: 2676, updated on 1-Jun-2020

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
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

Genomic context

See GFRA3 in Genome Data Viewer
Location:
5q31.2
Exon count:
8
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (138252380..138274621, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (137588069..137610544, complement)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene kinesin family member 20A Neighboring gene cell division cycle 23 Neighboring gene Sharpr-MPRA regulatory region 7870 Neighboring gene RPS27A pseudogene 18 Neighboring gene cell division cycle 25C Neighboring gene uncharacterized LOC100128966 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

NHGRI GWAS Catalog

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

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

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)

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
    O60609
    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: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p13 Primary Assembly

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