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Aliases for GFRA4 Gene

Aliases for GFRA4 Gene

  • GDNF Family Receptor Alpha 4 2 3
  • Persephin Receptor 2 3 4
  • GDNF Receptor Alpha-4 3 4
  • GDNFR-Alpha-4 3 4
  • GFR-Alpha-4 3 4
  • GDNF Family Receptor Alpha-4 3
  • GFR Receptor Alpha 4 3

External Ids for GFRA4 Gene

Summaries for GFRA4 Gene

Entrez Gene Summary for GFRA4 Gene

  • 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]

GeneCards Summary for GFRA4 Gene

GFRA4 (GDNF Family Receptor Alpha 4) is a Protein Coding gene. Among its related pathways are L1CAM interactions and L1CAM interactions. GO annotations related to this gene include glial cell-derived neurotrophic factor receptor activity. An important paralog of this gene is GFRA1.

UniProtKB/Swiss-Prot for GFRA4 Gene

  • Receptor for persephin. Mediates the GDNF-induced autophosphorylation and activation of the RET receptor. May be important in C-cell development and, in the postnatal development of the adrenal medulla

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GFRA4 Gene

Genomics for GFRA4 Gene

Genomic Location for GFRA4 Gene

Start:
3,659,292 bp from pter
End:
3,663,399 bp from pter
Size:
4,108 bases
Orientation:
Minus strand

Genomic View for GFRA4 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for GFRA4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GFRA4 Gene

Regulatory Elements for GFRA4 Gene

Proteins for GFRA4 Gene

  • Protein details for GFRA4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9GZZ7-GFRA4_HUMAN
    Recommended name:
    GDNF family receptor alpha-4
    Protein Accession:
    Q9GZZ7
    Secondary Accessions:
    • Q5JT74
    • Q9H191
    • Q9H192

    Protein attributes for GFRA4 Gene

    Size:
    299 amino acids
    Molecular mass:
    31670 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for GFRA4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GFRA4 Gene

Proteomics data for GFRA4 Gene at MOPED

Post-translational modifications for GFRA4 Gene

Other Protein References for GFRA4 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for GFRA4 Gene

Domains for GFRA4 Gene

Gene Families for GFRA4 Gene

Protein Domains for GFRA4 Gene

InterPro:
ProtoNet:

UniProtKB/Swiss-Prot:

GFRA4_HUMAN
Family:
  • Belongs to the GDNFR family.:
    • Q9GZZ7
genes like me logo Genes that share domains with GFRA4: view

Function for GFRA4 Gene

Molecular function for GFRA4 Gene

UniProtKB/Swiss-Prot Function: Receptor for persephin. Mediates the GDNF-induced autophosphorylation and activation of the RET receptor. May be important in C-cell development and, in the postnatal development of the adrenal medulla

Gene Ontology (GO) - Molecular Function for GFRA4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016167 glial cell-derived neurotrophic factor receptor activity IEA --
genes like me logo Genes that share ontologies with GFRA4: view
genes like me logo Genes that share phenotypes with GFRA4: view

Animal Models for GFRA4 Gene

MGI Knock Outs for GFRA4:

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting and HOMER Transcription for GFRA4 Gene

Localization for GFRA4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GFRA4 Gene

Isoform GFRalpha4a: Cell membrane; Lipid-anchor, GPI-anchor.
Isoform GFRalpha4b: Cell membrane; Lipid-anchor, GPI-anchor.
Isoform GFRalpha4c: Secreted.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for GFRA4 Gene COMPARTMENTS Subcellular localization image for GFRA4 gene
Compartment Confidence
extracellular 5
plasma membrane 5

Gene Ontology (GO) - Cellular Components for GFRA4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space IEA --
GO:0005886 plasma membrane IEA --
GO:0031225 anchored component of membrane IEA --
GO:0070062 extracellular exosome IDA 23376485
genes like me logo Genes that share ontologies with GFRA4: view

Pathways for GFRA4 Gene

genes like me logo Genes that share pathways with GFRA4: view

Pathways by source for GFRA4 Gene

1 GeneGo (Thomson Reuters Life Sciences Research) pathway for GFRA4 Gene
1 Qiagen pathway for GFRA4 Gene

Interacting Proteins for GFRA4 Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000313423%0d%0a9606.ENSP00000245810%0d%0a
Selected Interacting proteins: ENSP00000313423 Q9GZZ7-GFRA4_HUMAN for GFRA4 Gene via STRING I2D

Gene Ontology (GO) - Biological Process for GFRA4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030279 negative regulation of ossification IEA --
GO:0035860 glial cell-derived neurotrophic factor receptor signaling pathway IEA --
genes like me logo Genes that share ontologies with GFRA4: view

Transcripts for GFRA4 Gene

mRNA/cDNA for GFRA4 Gene

(4) REFSEQ mRNAs :
(7) Selected AceView cDNA sequences:
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Alternative Splicing Database (ASD) splice patterns (SP) for GFRA4 Gene

ExUns: 1 ^ 2 ^ 3a · 3b · 3c ^ 4 ^ 5
SP1: -
SP2:
SP3:

Relevant External Links for GFRA4 Gene

GeneLoc Exon Structure for
GFRA4
ECgene alternative splicing isoforms for
GFRA4

Expression for GFRA4 Gene

mRNA expression in normal human tissues for GFRA4 Gene

mRNA differential expression in normal tissues according to GTEx for GFRA4 Gene

This gene is overexpressed in Thyroid (9.6), Brain - Amygdala (7.7), Brain - Hippocampus (7.5), and Testis (4.9).

SOURCE GeneReport for Unigene cluster for GFRA4 Gene Hs.302025

mRNA Expression by UniProt/SwissProt for GFRA4 Gene

Q9GZZ7-GFRA4_HUMAN
Tissue specificity: Predominantly expressed in the adult thyroid gland. Low levels also found in fetal adrenal and thyroid glands
genes like me logo Genes that share expressions with GFRA4: view

Orthologs for GFRA4 Gene

This gene was present in the common ancestor of chordates.

Orthologs for GFRA4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GFRA4 36
  • 97.04 (n)
  • 94.98 (a)
GFRA4 37
  • 88 (a)
OneToOne
cow
(Bos Taurus)
Mammalia GFRA4 36
  • 83.55 (n)
  • 79.22 (a)
GFRA4 37
  • 70 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GFRA4 36
  • 86.88 (n)
  • 83.46 (a)
GFRA4 37
  • 69 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gfra4 36
  • 80 (n)
  • 79.53 (a)
Gfra4 16
Gfra4 37
  • 56 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia GFRA4 37
  • 34 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gfra4 36
  • 78.02 (n)
  • 75.55 (a)
chicken
(Gallus gallus)
Aves GFRA4 37
  • 27 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GFRA4 37
  • 26 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii BX247898.1 37
  • 26 (a)
OneToMany
gfra4 37
  • 25 (a)
OneToMany
Species with no ortholog for GFRA4:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for GFRA4 Gene

ENSEMBL:
Gene Tree for GFRA4 (if available)
TreeFam:
Gene Tree for GFRA4 (if available)

Paralogs for GFRA4 Gene

Paralogs for GFRA4 Gene

genes like me logo Genes that share paralogs with GFRA4: view

Variants for GFRA4 Gene

Sequence variations from dbSNP and Humsavar for GFRA4 Gene

SNP ID Clin Chr 20 pos Sequence Context AA Info Type MAF
rs492370 -- 3,659,289(+) GTTAT(G/T)CCTAC downstream-variant-500B
rs492497 -- 3,659,333(+) GGCAA(A/T)TGCCA utr-variant-3-prime
rs601957 -- 3,663,466(+) TAGTG(C/T)CTCTG upstream-variant-2KB
rs616749 -- 3,661,999(+) GGATT(C/T)ATGCA intron-variant
rs618162 -- 3,662,322(+) CAAAA(A/C)CCAGG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for GFRA4 Gene

Variant ID Type Subtype PubMed ID
nsv520565 CNV Loss 19592680
dgv4521n71 CNV Loss 21882294
nsv912615 CNV Loss 21882294

Relevant External Links for GFRA4 Gene

HapMap Linkage Disequilibrium report
GFRA4

Disorders for GFRA4 Gene

(1) Novoseek inferred disease relationships for GFRA4 Gene

Disease -log(P) Hits PubMed IDs
multiple endocrine neoplasia 77.3 1

Relevant External Links for GFRA4

Genetic Association Database (GAD)
GFRA4
Human Genome Epidemiology (HuGE) Navigator
GFRA4
genes like me logo Genes that share disorders with GFRA4: view

No data available for UniProtKB/Swiss-Prot for GFRA4 Gene

Publications for GFRA4 Gene

  1. Human glial cell line-derived neurotrophic factor receptor alpha4 is the receptor for persephin and is predominantly expressed in normal and malignant thyroid medullary cells. (PMID: 11116144) Lindahl M. … Saarma M. (J. Biol. Chem. 2001) 3 4 23
  2. Mammalian GFRalpha -4, a divergent member of the GFRalpha family of coreceptors for glial cell line-derived neurotrophic factor family ligands, is a receptor for the neurotrophic factor persephin. (PMID: 10958791) Masure S. … Gordon R.D. (J. Biol. Chem. 2000) 2 3
  3. The DNA sequence and comparative analysis of human chromosome 20. (PMID: 11780052) Deloukas P. … Rogers J. (Nature 2001) 3 4
  4. Investigation of germline GFRA4 mutations and evaluation of the involvement of GFRA1, GFRA2, GFRA3, and GFRA4 sequence variants in Hirschsprung disease. (PMID: 12624147) Borrego S. … Eng C. (J. Med. Genet. 2003) 3 49
  5. PSPN/GFRalpha4 has a significantly weaker capacity than GDNF/GFRalpha1 to recruit RET to rafts, but promotes neuronal survival and neurite outgrowth. (PMID: 15225646) Yang J. … Saarma M. (FEBS Lett. 2004) 2 3

Products for GFRA4 Gene

Sources for GFRA4 Gene

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