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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 Cytokine Signaling in Immune system. Gene Ontology (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

Additional gene information for GFRA2 Gene

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

Genomics for GFRA2 Gene

GeneHancer (GH) Regulatory Elements for GFRA2 Gene

Promoters and enhancers for GFRA2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH08I021788 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE 550.3 +23.4 23356 0.4 GLI4 ZNF2 KLF7 SP3 REST ZNF518A ZNF610 ZSCAN16 GLIS1 MYNN GFRA2 ENSG00000253200 FAM160B2 CCAR2 XPO7 PIR47014 GC08P021598
GH08I021789 Promoter/Enhancer 1.1 EPDnew ENCODE 550.3 +24.0 23961 0.2 MXI1 L3MBTL2 SP2 CBX8 GLIS2 GLIS1 PATZ1 ZBTB17 EZH2 GFRA2 PIR47014 GC08P021598
GH08I021791 Promoter 0.8 EPDnew 550.3 +24.3 24278 0.1 ZBTB48 ZBTB26 EZH2 ZBTB17 GFRA2 PIR47014 GC08P021598
GH08I021812 Enhancer 0.6 ENCODE 550.8 -0.1 -87 0.8 CTCF MAZ ZNF654 RAD21 SP1 POLR2A PATZ1 VEZF1 CTBP2 ZNF143 GFRA2 LOC105379318
GH08I021917 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE 8.4 -107.8 -107758 4.3 HDGF PKNOX1 FOXA2 ARNT ZFP64 ARID4B SIN3A YY1 ZNF766 ZNF207 XPO7 ENSG00000253200 BIN3 FGF17 FAM160B2 NPM2 C8orf58 POLR3D GFRA2 DMTN
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around GFRA2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the GFRA2 gene promoter:

Genomic Locations for GFRA2 Gene

Genomic Locations for GFRA2 Gene
chr8:21,690,403-21,812,357
(GRCh38/hg38)
Size:
121,955 bases
Orientation:
Minus strand
chr8:21,547,915-21,669,869
(GRCh37/hg19)

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 posLast=5252, isoforms=2, 3357, and posLast=413413

No data available for DME Specific Peptides for GFRA2 Gene

Domains & Families for GFRA2 Gene

Gene Families for GFRA2 Gene

IUPHAR :
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted secreted proteins

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.

Phenotypes From GWAS Catalog for GFRA2 Gene

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 TAS 10829012
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

Clone 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GFRA2 gene
Compartment Confidence
plasma membrane 5
extracellular 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for GFRA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IEA --
GO:0005886 plasma membrane 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 Innate 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:0007411 axon guidance TAS --
GO:0033141 positive regulation of peptidyl-serine phosphorylation of STAT protein 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:

Clone 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 CGAP 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.

Evidence on tissue expression from TISSUES for GFRA2 Gene

  • Nervous system(4.6)
  • Liver(4.1)
genes like me logo Genes that share expression patterns with GFRA2: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for GFRA2 Gene

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 34
  • 100 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GFRA2 33 34
  • 93.89 (n)
cow
(Bos Taurus)
Mammalia GFRA2 33 34
  • 91.52 (n)
rat
(Rattus norvegicus)
Mammalia Gfra2 33
  • 91.24 (n)
mouse
(Mus musculus)
Mammalia Gfra2 33 16 34
  • 90.86 (n)
oppossum
(Monodelphis domestica)
Mammalia GFRA2 34
  • 89 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GFRA2 34
  • 84 (a)
OneToOne
chicken
(Gallus gallus)
Aves GFRA2 33 34
  • 76.7 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia gfra2 33
  • 60.45 (n)
zebrafish
(Danio rerio)
Actinopterygii gfra2a 33 34
  • 68.3 (n)
gfra2b 34
  • 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 Variation AA Info Type
rs796065050 drug-response, Pazopanib response 21,750,657(-) G/A coding_sequence_variant, missense_variant
rs1000019854 -- 21,736,065(-) C/T intron_variant
rs1000023979 -- 21,704,676(-) A/C intron_variant
rs1000040096 -- 21,746,950(-) C/A intron_variant
rs1000055888 -- 21,774,581(-) T/G 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)

Additional Variant Information 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: HGMD, DISEASES, and Novoseek

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

Additional Disease Information for GFRA2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 RL (Proceedings of the National Academy of Sciences of the United States of America 1997) 2 3 4 22 58
  2. Glial cell line-derived neurotrophic factor receptor alpha 2 (GFRA2) gene is associated with tardive dyskinesia. (PMID: 20369355) Souza RP … Wong AH (Psychopharmacology 2010) 3 22 44 58
  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 MH (Molecular psychiatry 2009) 3 22 44 58
  4. TrnR2, a novel receptor that mediates neurturin and GDNF signaling through Ret. (PMID: 9182803) Baloh RH … Milbrandt J (Neuron 1997) 3 4 22 58
  5. 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 (Human molecular genetics 1997) 3 4 22 58

Products for GFRA2 Gene

Sources for GFRA2 Gene

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