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Aliases for GFRA2 Gene

Aliases for GFRA2 Gene

  • GDNF Family Receptor Alpha 2 2 3 5
  • TGF-Beta-Related Neurotrophic Factor Receptor 2 3 4
  • Neurturin Receptor Alpha 3 4
  • GDNF Receptor Beta 3 4
  • GDNFR-Alpha-2 3 4
  • RET Ligand 2 3 4
  • NRTNR-ALPHA 3 4
  • GDNFR-Beta 3 4
  • NTNR-Alpha 3 4
  • GDNFRB 3 4
  • RETL2 3 4
  • TRNR2 3 4
  • Glial Cell Line Derived Neurotrophic Factor Receptor, Beta 3
  • PI-Linked Cell-Surface Accessory Protein 3
  • GDNF Family Receptor Alpha-2 3
  • TRN Receptor, GPI-Anchored 3
  • GDNF Receptor Alpha-2 4
  • GFR-Alpha 2 3
  • GFR-Alpha-2 4
  • NTNRA 3

External Ids for GFRA2 Gene

Previous GeneCards Identifiers for GFRA2 Gene

  • GC08M021338
  • GC08M021863
  • GC08M021559
  • GC08M020092
  • GC08M021547

Summaries for GFRA2 Gene

Entrez Gene Summary for GFRA2 Gene

  • 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]

GeneCards Summary for GFRA2 Gene

GFRA2 (GDNF Family Receptor Alpha 2) is a Protein Coding gene. Diseases associated with GFRA2 include Malignant Granular Cell Myoblastoma and Hirschsprung Disease 1. Among its related pathways are RET signaling and Immune System. 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 GFRA2 Gene

  • Receptor for neurturin. Mediates the NRTN-induced autophosphorylation and activation of the RET receptor. Also able to mediate GDNF signaling through the RET tyrosine kinase receptor.

  • Isoform 2: participates in NRTN-induced Ser-727 phosphorylation of STAT3.

Gene Wiki entry for GFRA2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GFRA2 Gene

Genomics for GFRA2 Gene

Regulatory Elements for GFRA2 Gene

Enhancers for GFRA2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH08F021764 1.1 Ensembl ENCODE 20.1 +46.9 46943 1.6 ZNF280D IKZF1 NBN MLLT1 TBX21 SPI1 GFRA2 PIR47014 GC08P021598
GH08F021549 1.2 FANTOM5 19.7 +262.7 262671 0.1 ZNF366 FOXP2 GFRA2 GC08P021558 GC08P021537
GH08F021857 1.1 Ensembl ENCODE 18.9 -46.2 -46244 2.8 HDAC1 CBX3 ESRRA ATF1 TBL1XR1 TAL1 MAX ZKSCAN1 IRF9 POLR2A GFRA2 LOC105379318
GH08F021896 0.9 Ensembl ENCODE 17.1 -85.1 -85144 1.8 MTA2 CBFB REST ZNF623 ZKSCAN1 EED IKZF1 SPI1 GFRA2 GC08M021903 LOC105379318
GH08F021674 1 Ensembl ENCODE 10.7 +137.0 136997 2.1 ZNF512 GFRA2 GC08P021598 PIR47014
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around GFRA2 on UCSC Golden Path with GeneCards custom track

Genomic Location for GFRA2 Gene

Chromosome:
8
Start:
21,690,403 bp from pter
End:
21,812,357 bp from pter
Size:
121,955 bases
Orientation:
Minus strand

Genomic View for GFRA2 Gene

Genes around GFRA2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GFRA2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GFRA2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GFRA2 Gene

Proteins for GFRA2 Gene

  • Protein details for GFRA2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O00451-GFRA2_HUMAN
    Recommended name:
    GDNF family receptor alpha-2
    Protein Accession:
    O00451
    Secondary Accessions:
    • E9PD47
    • O15316
    • O15328
    • Q58J92
    • Q6GTR9
    • Q7Z5C2

    Protein attributes for GFRA2 Gene

    Size:
    464 amino acids
    Molecular mass:
    51544 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for GFRA2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GFRA2 Gene

Post-translational modifications for GFRA2 Gene

  • Glycosylation at Asn 52, Asn 357, and Asn 413
  • Modification sites at PhosphoSitePlus

Antibody Products

  • R&D Systems Antibodies for GFRA2 (GFR alpha-2/GDNF R alpha-2)
  • Cloud-Clone Corp. Antibodies for GFRA2

No data available for DME Specific Peptides for GFRA2 Gene

Domains & Families for GFRA2 Gene

Gene Families for GFRA2 Gene

Suggested Antigen Peptide Sequences for GFRA2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O00451

UniProtKB/Swiss-Prot:

GFRA2_HUMAN :
  • Belongs to the GDNFR family.
Family:
  • Belongs to the GDNFR family.
genes like me logo Genes that share domains with GFRA2: view

Function for GFRA2 Gene

Molecular function for GFRA2 Gene

GENATLAS Biochemistry:
glial cell line-derived neurotrophic factor (GDNF) receptor alpha 2,47kDa,mediating the autophosphorylation of RET,abundantly expressed in adult brain,intestine,placenta,fetal brain,lung,kidney,also receptor for neurturin and TGF-beta-related neurotrophic factor
UniProtKB/Swiss-Prot Function:
Receptor for neurturin. Mediates the NRTN-induced autophosphorylation and activation of the RET receptor. Also able to mediate GDNF signaling through the RET tyrosine kinase receptor.
UniProtKB/Swiss-Prot Function:
Isoform 2: participates in NRTN-induced Ser-727 phosphorylation of STAT3.

Gene Ontology (GO) - Molecular Function for GFRA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004872 receptor activity IEA --
GO:0005088 Ras guanyl-nucleotide exchange factor activity TAS --
GO:0016167 glial cell-derived neurotrophic factor receptor activity IEA,TAS --
genes like me logo Genes that share ontologies with GFRA2: view
genes like me logo Genes that share phenotypes with GFRA2: view

Animal Models for GFRA2 Gene

MGI Knock Outs for GFRA2:

Animal Model Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for GFRA2 Gene

Localization for GFRA2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GFRA2 Gene

Cell membrane; Lipid-anchor, GPI-anchor.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for GFRA2 Gene COMPARTMENTS Subcellular localization image for GFRA2 gene
Compartment Confidence
plasma membrane 4
extracellular 1

Gene Ontology (GO) - Cellular Components for GFRA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IEA --
GO:0005886 plasma membrane IEA,TAS --
GO:0016020 membrane IEA --
GO:0019898 extrinsic component of membrane TAS 10829012
GO:0031225 anchored component of membrane IEA --
genes like me logo Genes that share ontologies with GFRA2: view

Pathways & Interactions for GFRA2 Gene

SuperPathways for GFRA2 Gene

SuperPathway Contained pathways
1 RET signaling
2 GDNF-Family Ligands and Receptor Interactions
3 Developmental Biology
4 Cytokine Signaling in Immune system
5 Immune System
genes like me logo Genes that share pathways with GFRA2: view

Pathways by source for GFRA2 Gene

1 GeneGo (Thomson Reuters) pathway for GFRA2 Gene
1 Qiagen pathway for GFRA2 Gene

SIGNOR curated interactions for GFRA2 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for GFRA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000165 MAPK cascade TAS --
GO:0007169 transmembrane receptor protein tyrosine kinase signaling pathway TAS 9192898
GO:0007399 nervous system development IEA --
GO:0031953 negative regulation of protein autophosphorylation IEA --
GO:0035860 glial cell-derived neurotrophic factor receptor signaling pathway IEA --
genes like me logo Genes that share ontologies with GFRA2: view

Drugs & Compounds for GFRA2 Gene

(1) Drugs for GFRA2 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(1) Additional Compounds for GFRA2 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with GFRA2: view

Transcripts for GFRA2 Gene

Unigene Clusters for GFRA2 Gene

GDNF family receptor alpha 2:
Representative Sequences:

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for GFRA2 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b
SP1:
SP2: -
SP3: - -
SP4: -

Relevant External Links for GFRA2 Gene

GeneLoc Exon Structure for
GFRA2
ECgene alternative splicing isoforms for
GFRA2

Expression for GFRA2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for GFRA2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for GFRA2 Gene

This gene is overexpressed in Brain - Cortex (x6.3), Brain - Frontal Cortex (BA9) (x5.8), Brain - Anterior cingulate cortex (BA24) (x5.0), and Thyroid (x4.6).

Protein differential expression in normal tissues from HIPED for GFRA2 Gene

This gene is overexpressed in Bone marrow mesenchymal stem cell (23.7), Cerebrospinal fluid (15.6), Fetal Brain (11.5), and Frontal cortex (8.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for GFRA2 Gene



Protein tissue co-expression partners for GFRA2 Gene

NURSA nuclear receptor signaling pathways regulating expression of GFRA2 Gene:

GFRA2

SOURCE GeneReport for Unigene cluster for GFRA2 Gene:

Hs.441202

mRNA Expression by UniProt/SwissProt for GFRA2 Gene:

O00451-GFRA2_HUMAN
Tissue specificity: Isoform 1 is found in both brain and placenta.
genes like me logo Genes that share expression patterns with GFRA2: view

Primer Products

Orthologs for GFRA2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for GFRA2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GFRA2 35
  • 100 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GFRA2 34 35
  • 93.89 (n)
cow
(Bos Taurus)
Mammalia GFRA2 34 35
  • 91.52 (n)
rat
(Rattus norvegicus)
Mammalia Gfra2 34
  • 91.24 (n)
mouse
(Mus musculus)
Mammalia Gfra2 34 16 35
  • 90.86 (n)
oppossum
(Monodelphis domestica)
Mammalia GFRA2 35
  • 89 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GFRA2 35
  • 84 (a)
OneToOne
chicken
(Gallus gallus)
Aves GFRA2 34 35
  • 76.7 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia gfra2 34
  • 60.45 (n)
zebrafish
(Danio rerio)
Actinopterygii gfra2a 34 35
  • 68.3 (n)
gfra2b 35
  • 53 (a)
OneToMany
Species where no ortholog for GFRA2 was found in the sources mined by GeneCards:
  • 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)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • 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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for GFRA2 Gene

ENSEMBL:
Gene Tree for GFRA2 (if available)
TreeFam:
Gene Tree for GFRA2 (if available)

Paralogs for GFRA2 Gene

Paralogs for GFRA2 Gene

(2) SIMAP similar genes for GFRA2 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with GFRA2: view

Variants for GFRA2 Gene

Sequence variations from dbSNP and Humsavar for GFRA2 Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type
rs796065050 drug-response 21,750,657(-) CTGCT(C/T)CTATG reference, missense
rs10046718 -- 21,751,586(+) AACCG(C/T)TGGTC intron-variant
rs10088105 -- 21,707,503(+) AATTC(A/G)TTTCT intron-variant
rs10088934 -- 21,707,522(+) CCCCG(C/G)GATCC intron-variant
rs10090694 -- 21,713,345(+) tgtgc(A/G)ccacc intron-variant

Structural Variations from Database of Genomic Variants (DGV) for GFRA2 Gene

Variant ID Type Subtype PubMed ID
dgv3793n106 CNV deletion 24896259
esv25058 CNV loss 19812545
esv2675982 CNV deletion 23128226
esv2759604 CNV loss 17122850
esv3891375 CNV gain 25118596
nsv1024727 CNV gain 25217958
nsv1075122 CNV deletion 25765185
nsv1149933 CNV insertion 26484159
nsv473429 CNV novel sequence insertion 20440878
nsv474680 CNV novel sequence insertion 20440878
nsv479289 CNV novel sequence insertion 20440878
nsv480532 CNV novel sequence insertion 20440878
nsv480567 CNV novel sequence insertion 20440878

Variation tolerance for GFRA2 Gene

Residual Variation Intolerance Score: 60.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 12.57; 94.47% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for GFRA2 Gene

Human Gene Mutation Database (HGMD)
GFRA2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GFRA2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GFRA2 Gene

Disorders for GFRA2 Gene

MalaCards: The human disease database

(2) MalaCards diseases for GFRA2 Gene - From: DISEASES and Novoseek

Disorder Aliases PubMed IDs
malignant granular cell myoblastoma
  • granular cell tumor, malignant
hirschsprung disease 1
  • hirschsprung's disease
- elite association - COSMIC cancer census association via MalaCards
Search GFRA2 in MalaCards View complete list of genes associated with diseases

Relevant External Links for GFRA2

Genetic Association Database (GAD)
GFRA2
Human Genome Epidemiology (HuGE) Navigator
GFRA2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GFRA2
genes like me logo Genes that share disorders with GFRA2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for GFRA2 Gene

Publications for GFRA2 Gene

  1. Glial cell line-derived neurotrophic factor-dependent RET activation can be mediated by two different cell-surface accessory proteins. (PMID: 9177201) Sanicola M. … Cate R.L. (Proc. Natl. Acad. Sci. U.S.A. 1997) 2 3 4 22 64
  2. Glial cell line-derived neurotrophic factor receptor alpha 2 (GFRA2) gene is associated with tardive dyskinesia. (PMID: 20369355) Souza R.P. … Wong A.H. (Psychopharmacology (Berl.) 2010) 3 22 46 64
  3. Association of the NPAS3 gene and five other loci with response to the antipsychotic iloperidone identified in a whole genome association study. (PMID: 18521090) Lavedan C. … Polymeropoulos M.H. (Mol. Psychiatry 2009) 3 22 46 64
  4. Cloning, mRNA distribution and chromosomal localisation of the gene for glial cell line-derived neurotrophic factor receptor beta, a homologue to GDNFR-alpha. (PMID: 9259272) Suvanto P. … Saarma M. (Hum. Mol. Genet. 1997) 3 4 22 64
  5. TrnR2, a novel receptor that mediates neurturin and GDNF signaling through Ret. (PMID: 9182803) Baloh R.H. … Milbrandt J. (Neuron 1997) 3 4 22 64

Products for GFRA2 Gene

Sources for GFRA2 Gene

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