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GFRA4 GDNF family receptor alpha 4 [ Homo sapiens (human) ]

Gene ID: 64096, updated on 21-May-2020

Summary

Official Symbol
GFRA4provided by HGNC
Official Full Name
GDNF family receptor alpha 4provided by HGNC
Primary source
HGNC:HGNC:13821
See related
Ensembl:ENSG00000125861 MIM:618679
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
Summary
The protein encoded by this gene is a member of the GDNF receptor family. It is a glycosylphosphatidylinositol(GPI)-linked cell surface receptor for persephin, and mediates activation of the RET tyrosine kinase receptor. This gene is a candidate gene for RET-associated diseases. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]
Expression
Low expression observed in reference dataset See more
Orthologs

Genomic context

See GFRA4 in Genome Data Viewer
Location:
20p13
Exon count:
5
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 20 NC_000020.11 (3659248..3663399, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (3639939..3644046, complement)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105372508 Neighboring gene uncharacterized LOC105372509 Neighboring gene attractin Neighboring gene splicing factor 3a, subunit 3 pseudogene 1 Neighboring gene ADAM metallopeptidase domain 33 Neighboring gene Sharpr-MPRA regulatory region 3812 Neighboring gene sialic acid binding Ig like lectin 1

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?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
glial cell-derived neurotrophic factor receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
signaling receptor activity IBA
Inferred from Biological aspect of Ancestor
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
 
negative regulation of ossification IEA
Inferred from Electronic Annotation
more info
 
nervous system development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
anchored component of membrane IEA
Inferred from Electronic Annotation
more info
 
external side of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
extracellular space IEA
Inferred from Electronic Annotation
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-4
Names
GDNF receptor alpha-4
GDNFR-alpha-4
GFR receptor alpha 4
GFR-alpha-4
persephin receptor

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.

mRNA and Protein(s)

  1. NM_022139.4NP_071422.1  GDNF family receptor alpha-4 isoform a precursor

    See identical proteins and their annotated locations for NP_071422.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the predominant isoform (a).
    Source sequence(s)
    AF253318, AL356755
    Consensus CDS
    CCDS13055.1
    UniProtKB/Swiss-Prot
    Q9GZZ7
    Related
    ENSP00000290417.2, ENST00000290417.6
    Conserved Domains (1) summary
    pfam02351
    Location:117211
    GDNF; GDNF/GAS1 domain
  2. NM_145762.3NP_665705.1  GDNF family receptor alpha-4 isoform b precursor

    See identical proteins and their annotated locations for NP_665705.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) includes additional segments in the coding region compared to variant 1, that cause internal frameshift. The resulting isoform (b) contains additional aa in the middle of the protein, but has the same N- and C-terminal ends as isoform a.
    Source sequence(s)
    AJ291674, AL356755
    Consensus CDS
    CCDS13056.1
    UniProtKB/Swiss-Prot
    Q9GZZ7
    Related
    ENSP00000313423.3, ENST00000319242.7
    Conserved Domains (1) summary
    pfam02351
    Location:202241
    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_000020.11 Reference GRCh38.p13 Primary Assembly

    Range
    3659248..3663399 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005260793.2XP_005260850.1  GDNF family receptor alpha-4 isoform X1

    See identical proteins and their annotated locations for XP_005260850.1

    UniProtKB/Swiss-Prot
    Q9GZZ7
    Related
    ENSP00000435801.1, ENST00000477160.1
    Conserved Domains (2) summary
    smart00907
    Location:117170
    GDNF; GDNF/GAS1 domain
    pfam02351
    Location:26105
    GDNF; GDNF/GAS1 domain

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_145763.1: Suppressed sequence

    Description
    NM_145763.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
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