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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

GFRA1 Gene

protein-coding   GIFtS: 64
GCID: GC10M117813

GDNF Family Receptor Alpha 1


(Previous symbol: GDNFRA)
Alzheimer's & Parkinson's Diseases Congress
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
GDNF Family Receptor Alpha 11 2     GFR-ALPHA-12
GDNFRA1 2 3 5     RET1L2
GDNFR-alpha-12 3     GDNF Family Receptor Alpha-12
RETL12 3     Glial Cell Line-Derived Neurotrophic Factor Receptor Alpha2
TRNR12 3     GPI-Linked Anchor Protein2
GDNF Receptor Alpha-12 3     PI-Linked Cell-Surface Accessory Protein2
RET Ligand 12 3     TGF-Beta Related Neurotrophic Factor Receptor 12
TGF-Beta-Related Neurotrophic Factor Receptor 12 3     GFR-alpha-13
GDNFR2 5     

External Ids:    HGNC: 42431   Entrez Gene: 26742   Ensembl: ENSG000001518927   OMIM: 6014965   UniProtKB: P561593   

Export aliases for GFRA1 gene to outside databases

Previous GC identifers: GC10M116742 GC10M117066 GC10M117954 GC10M117487 GC10M111444


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for GFRA1 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
gene is a candidate gene for Hirschsprung disease. Multiple alternatively spliced transcript variants have been
described for this gene. (provided by RefSeq, Feb 2009)

GeneCards Summary for GFRA1 Gene: 
GFRA1 (GDNF family receptor alpha 1) is a protein-coding gene. Diseases associated with GFRA1 include multiple endocrine neoplasia type 2a, and congenital central hypoventilation syndrome, and among its related super-pathways are Development EGFR signaling pathway and Axon guidance. GO annotations related to this gene include integrin binding and receptor binding. An important paralog of this gene is GFRA3.

UniProtKB/Swiss-Prot: GFRA1_HUMAN, P56159
Function: Receptor for GDNF. Mediates the GDNF-induced autophosphorylation and activation of the RET receptor (By
similarity)

Gene Wiki entry for GFRA1 (GDNF family receptor alpha 1) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000010.10  NT_030059.13  NC_018921.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the GFRA1 gene promoter:
         TBP   Sp1   Zic3   MRF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): GFRA1 promoter sequence
   Search SABiosciences Chromatin IP Primers for GFRA1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat GFRA1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 10q26.11   Ensembl cytogenetic band:  10q25.3   HGNC cytogenetic band: 10q25-q26

GFRA1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GFRA1 gene location

GeneLoc information about chromosome 10         GeneLoc Exon Structure

GeneLoc location for GC10M117813:  view genomic region     (about GC identifiers)

Start:
117,816,436 bp from pter      End:
118,033,126 bp from pter
Size:
216,691 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: GFRA1_HUMAN, P56159 (See protein sequence)
Recommended Name: GDNF family receptor alpha-1 precursor  
Size: 465 amino acids; 51456 Da
Subunit: 2 molecules of GDNFR-alpha are thought to form a complex with the disulfide-linked GDNF dimer and with 2
molecules of RET (By similarity)
Subcellular location: Cell membrane; Lipid-anchor, GPI-anchor (By similarity)
Secondary accessions: A8KA21 O15507 O43912
Alternative splicing: 2 isoforms:  P56159-1   P56159-2   (May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay)

Explore the universe of human proteins at neXtProt for GFRA1: NX_P56159

Explore proteomics data for GFRA1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P56159

  • GFRA1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    GFRA1 Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_001138925.1  NP_005255.1  NP_665736.1  

    ENSEMBL proteins: 
     ENSP00000358239   ENSP00000347591   ENSP00000358237   ENSP00000393725   ENSP00000442179  
    Reactome Protein details: P56159
    Human Recombinant Protein Products for GFRA1: 
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    Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005615extracellular space IEA--
    GO:0009897external side of plasma membrane IEA--
    GO:0019898extrinsic to membrane NAS--
    GO:0030424axon IEA--
    GO:0031225anchored to membrane IEA--

    GFRA1 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    IUPHAR Guide to PHARMACOLOGY protein family classification: GDNF family receptor α1 
    GDNF receptor family

    4 InterPro protein domains:
     IPR016017 GDNF/GAS1
     IPR003438 GDNF_rcpt
     IPR017372 Glial_neurotroph_fac_rcpt_a1/2
     IPR003503 GDNF_rcpt_A1

    Graphical View of Domain Structure for InterPro Entry P56159

    ProtoNet protein and cluster: P56159

    2 Blocks protein domains:
    IPB003438 Glial cell line-derived neurotrophic factor receptor family signature
    IPB003503 Glial cell line-derived neurotrophic factor receptor alpha 1 signature


    UniProtKB/Swiss-Prot: GFRA1_HUMAN, P56159
    Similarity: Belongs to the GDNFR family


    GFRA1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: GFRA1_HUMAN, P56159
    Function: Receptor for GDNF. Mediates the GDNF-induced autophosphorylation and activation of the RET receptor (By
    similarity)

         Genatlas biochemistry entry for GFRA1:
    glial cell line derived neurotrophic factor (GDNF) receptor alpha-1,also receptor for neurturin,not (commonly)
    mutated in Hirschsprung disease,mediating the action of Ret protein receptor tyrosine kinase

         Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004872receptor activity NAS--
    GO:0005102receptor binding TAS9545641
    GO:0005178integrin binding IEA--
    GO:0005515protein binding ----
    GO:0016167glial cell-derived neurotrophic factor receptor activity TAS10829012
         
    GFRA1 for ontologies           About GeneDecksing


    Phenotypes:
         11 MGI mutant phenotypes (inferred from 6 alleles(MGI details for Gfra1):
     behavior/neurological  cellular  digestive/alimentary  embryogenesis  immune system 
     integument  mortality/aging  muscle  nervous system  normal 
     renal/urinary system 

    GFRA1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for GFRA1: Gfra1tm1Jmi Gfra1tm1Bjh Gfra1tm1Rosl

       inGenious Targeting Laboratory - Custom generated mouse model solutions for GFRA1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for GFRA1

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    SwitchGear 3'UTR luciferase reporter plasmidGFRA1 3' UTR sequence
    Inhib. RNA
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for GFRA1 About   (see all 7)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Development EGFR signaling pathway
    Development GDNF family signaling0.45
    GDNF-Family Ligands and Receptor Interactions0.41
    2Axon guidance
    Axon guidance0.69
    Developmental Biology0.69
    3NCAM signaling for neurite out-growth
    NCAM signaling for neurite out-growth0.62
    NCAM1 interactions0.62
    4G-protein signaling H-RAS regulation pathway
    G-protein signaling H-RAS regulation pathway1.00
    5TGF-beta Signaling Pathway
    TGF-beta Signaling Pathway

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 EMD Millipore Pathways for GFRA1
        Development GDNF family signaling
    G-protein signaling H-RAS regulation pathway

    1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for GFRA1
        GDNF-Family Ligands and Receptor Interactions

    2 GeneGo (Thomson Reuters) Pathways for GFRA1
        G-protein signaling H-RAS regulation pathway
    Development GDNF family signaling

    2 BioSystems Pathways for GFRA1
        Diurnally regulated genes with circadian orthologs
    Signaling events regulated by Ret tyrosine kinase

    1 Sino Biological Pathway for GFRA1 
        TGF-beta Signaling Pathway

    4        Reactome Pathways for GFRA1
        Developmental Biology
    NCAM1 interactions
    NCAM signaling for neurite out-growth
    Axon guidance



    GFRA1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for GFRA1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/34 Interacting proteins for GFRA1 (P561593 ENSP000003937254) via UniProtKB, MINT, STRING, and/or I2D (see all 34)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    GDNFP399053, ENSP000003171454I2D: score=3 STRING: ENSP00000317145
    NRTNQ997483, ENSP000003026484I2D: score=2 STRING: ENSP00000302648
    RETP079493, ENSP000003479424I2D: score=2 STRING: ENSP00000347942
    NCAM1P135913, ENSP000003184724I2D: score=1 STRING: ENSP00000318472
    ARTNENSP000003919984STRING: ENSP00000391998
    About this table

    Gene Ontology (GO): 5/9 biological process terms (GO ID links to tree view) (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001822kidney development IEA--
    GO:0007166cell surface receptor signaling pathway NAS8674117
    GO:0007399nervous system development ----
    GO:0007411axon guidance TAS--
    GO:0008584male gonad development IEA--

    GFRA1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    GFRA1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for GFRA1

    1 IUPHAR Ligand for GFRA1 (GDNF family receptor α1)    About this table 
    LigandTypeActionAffinityPubmed IDs
    [125I]GDNF (rat)
    NoneNone10.2 - 11.528657309 9192898

    8 Novoseek inferred chemical compound relationships for GFRA1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tyrosine 68.1 46 9108413 (1), 9576965 (1), 11002419 (1), 18089803 (1) (see all 40)
    heparan sulfate 23.5 1 12626395 (1)
    phosphatidylinositol 20.1 1 11846482 (1)
    bromodeoxyuridine 11.4 1 11079571 (1)
    heparin 7.22 10 17298301 (3), 12626395 (2)
    lipid 0 5 11182089 (2), 11476867 (1), 11106404 (1), 10774729 (1)
    cysteine 0 1 9407096 (1)
    dopamine 0 1 9262196 (1)

    Search CenterWatch for drugs/clinical trials and news about GFRA1

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for GFRA1 gene (3 alternative transcripts): 
    NM_001145453.1  NM_005264.4  NM_145793.3  

    Unigene Cluster for GFRA1:

    GDNF family receptor alpha 1
    Hs.388347  [show with all ESTs]
    Unigene Representative Sequence: NM_005264
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000369236 ENST00000355422 ENST00000369234 ENST00000490345 ENST00000439649(uc001lci.3 uc001lcj.3 uc009xyr.3)
    ENST00000544592

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    Additional mRNA sequence: 

    AF038421.1 AF042080.1 AK001423.1 AK056108.1 AK292886.1 AK302914.1 AL832661.1 BC014962.1 
    BX648964.1 U97144.1 

    8 DOTS entries:

    DT.444548  DT.95193991  DT.121301711  DT.99930465  DT.100744652  DT.121301702  DT.311101  DT.92429609 

    24/68 AceView cDNA sequences (see all 68):

    BX953721 BG696764 BX106828 AI092346 BX953798 AI049675 BU860284 AF042080 
    BM669624 CA449277 AI804110 AW263087 NM_005264 BU857306 AI025245 CA487292 
    CA488025 BU935138 BF569748 BI761045 CB161940 U95847 AI467912 BI761463 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    GFRA1 expression in normal human tissues (normalized intensities)      GFRA1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCTGCCTCAC
    GFRA1 Expression
    About this image


    GFRA1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/21 selected tissues (see all 21) fully expand
     
     Neural Tube (Nervous System)    fully expand to see all 6 entries
             Metencephalon
             brain/midbrain/lateral wall   
     
     Eye (Sensory Organs)    fully expand to see all 3 entries
             Human Iris Pigment Epithelial Cells (HIPEpiC)   
             retinal progenitor cell e16.5   
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Medulla Oblongata
             brain/midbrain/lateral wall   
     
     Gut Tube (Gastrointestinal Tract)    fully expand to see all 3 entries
             Hindgut
     
     Kidney (Urinary System)    fully expand to see all 2 entries
             Ureteric Bud Cells Ureteric Bud
             visceral organ/metanephros/renal cortex   

    See GFRA1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for GFRA1

    SOURCE GeneReport for Unigene cluster: Hs.388347
        SABiosciences Expression via Pathway-Focused PCR Arrays including GFRA1: 
              Neurotrophins & Receptors in human mouse rat
              Inflammatory Response & Autoimmunity 384HT in human mouse rat

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GFRA1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for GFRA1 gene from 5/11 species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Gfra11 , 5 glial cell line derived neurotrophic factor family more1, 5 88.96(n)1
    93.55(a)1
      19 (54.18 cM)5
    145851  NM_010279.21  NP_034409.11 
     582356045 
    chicken
    (Gallus gallus)
    Aves GFRA11 GDNF family receptor alpha 1 77.68(n)
    80.74(a)
      395994  NM_205102.1  NP_990433.1 
    lizard
    (Anolis carolinensis)
    Reptilia GFRA16
    GDNF family receptor alpha 1
    75(a)
    1 ↔ 1
    GL343206.1(2296305-2587033)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.124132 Transcribed sequence with weak similarity to protein more 82.22(n)    BX709568.1 
    zebrafish
    (Danio rerio)
    Actinopterygii AF329855.12   -- 76.68(n)   79377  AF329855.1 


    ENSEMBL Gene Tree for GFRA1 (if available)
    TreeFam Gene Tree for GFRA1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for GFRA1 gene
    GFRA32  GFRA22  GFRA42  
    2 SIMAP similar genes for GFRA1 using alignment to 3 protein entries:     GFRA1_HUMAN (see all proteins):
    GFRA2    GDNFR3

    GFRA1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/4858 SNPs in GFRA1 are shown (see all 4858)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 10 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0182614
    ----see VAR_0182612 L R mis40--------
    rs714751711,2
    C--111519324(+) AAAAA-/AAAA  
      
    /AAAAA
    GGCCA
    3 -- int11NA 2
    rs572225821,2
    C,F--117816003(+) CCAGTG/TCTGTC 3 -- ds50013Minor allele frequency- T:0.13WA CSA 122
    rs1498264841,2
    --117816084(+) AAATAC/TTGGCT 3 -- ds50010--------
    rs1887532831,2
    --117816158(+) ACCACA/GAAGTG 3 -- ds50010--------
    rs1913019061,2
    --117816183(+) CCAAAG/TGATGC 3 -- ds50010--------
    rs1834912961,2
    --117816269(+) TAGTAC/GCAAGG 3 -- ds50010--------
    rs1886157111,2
    --117816287(+) GCCATA/GGTCTG 3 -- ds50010--------
    rs2014510961,2
    --117816436(+) AATGA-/TTTTTT 3 -- ut310--------
    rs1805551,2
    C,F,A,H--117816443(-) TTTTTA/TAAAAA 3 -- ut314Minor allele frequency- T:0.17NA WA EA 360

    HapMap Linkage Disequilibrium report for GFRA1 (117816436 - 118033126 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 9 variations for GFRA1:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv1995539CNV Deletion18987734
    esv2741262CNV Deletion23290073
    esv2076195CNV Deletion18987734
    esv2741251CNV Deletion23290073
    esv2741239CNV Deletion23290073
    esv34187CNV Loss18971310
    nsv832000CNV Gain17160897
    nsv519769CNV Gain19592680
    nsv7211OTHER Inversion18451855


    Human Gene Mutation Database (HGMD): GFRA1
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing GFRA1
    DNA2.0 Custom Variant and Variant Library Synthesis for GFRA1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 601496    OMIM disorders: --

    20/45 diseases for GFRA1 (see all 45):    About MalaCards
    multiple endocrine neoplasia type 2a    congenital central hypoventilation syndrome    central hypoventilation syndrome    hirschsprung's disease
    hemoglobinuria    thyroid medullary carcinoma    multiple endocrine neoplasia    renal agenesis
    vesicoureteral reflux    paroxysmal nocturnal hemoglobinuria    prolactinoma    bile duct carcinoma
    phaeochromocytoma    neuroendocrine tumor    pituitary tumors    motor neuron disease
    teratoma    hemolytic anemia    peripheral neuropathy    seminoma

    2 diseases from the University of Copenhagen DISEASES database for GFRA1:
    Hirschsprung's disease     Renal agenesis

    GFRA1 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    10/16 Novoseek inferred disease relationships for GFRA1 gene (see all 16)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    hirschsprung disease 73.5 3 9545641 (1), 9465906 (1), 10812967 (1)
    thyroid carcinoma medullary 66.4 1 12490080 (1)
    men 2a 63.3 3 11979448 (2)
    paroxysmal hemoglobinuria nocturnal 46.6 1 8890572 (1)
    somatic mutations 42.2 1 8890572 (1)
    pheochromocytoma 35.5 1 9000574 (1)
    neuroendocrine tumors 30.9 1 9284737 (1)
    prolactinoma 28.6 1 11932334 (1)
    pituitary tumors 19.8 1 11932334 (1)
    pancreatic cancer 16.4 6 19188437 (2), 16357163 (1), 16269310 (1)

    Genetic Association Database (GAD): GFRA1
    Human Genome Epidemiology (HuGE) Navigator: GFRA1 (10 documents)

    Export disorders for GFRA1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for GFRA1 gene, integrated from 9 sources (see all 174):
    (articles sorted by number of sources associating them with GFRA1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Human GFRA1: cloning, mapping, genomic structure, and evaluation as a candidate gene for Hirschsprung disease susceptibility. (PubMed id 9545641)1, 2, 3, 9 Angrist M.... Chakravarti A. (1998)
    2. Glial cell line-derived neurotrophic factor-dependent RET activation can be mediated by two different cell-surface accessory proteins. (PubMed id 9177201)1, 2, 9 Sanicola M.... Cate R.L. (1997)
    3. Molecular analysis of congenital central hypoventilation syndrome. (PubMed id 14566559)1, 2, 9 Sasaki A.... Hayasaka K. (2003)
    4. Evaluation of germline sequence variants of GFRA1, GFRA2, and GFRA3 genes in a cohort of Spanish patients with sporadic medullary thyroid cancer. (PubMed id 12490080)1, 4, 9 Borrego S....Antinolo G. (2002)
    5. Hirschsprung disease and congenital anomalies of the kidney and urinary tract (CAKUT): a novel syndromic association. (PubMed id 19282698)1, 4, 9 Pini Prato A....Jasonni V. (2009)
    6. Assignment of the GDNF family receptor alpha-1 (GFRA1) to human chromosome band 10q26 by in situ hybridization. (PubMed id 9465905)1, 3, 9 Gorodinsky A....Milbrandt J. (1997)
    7. L-type voltage-dependent calcium channel alpha subuni t 1C is a novel candidate gene associated with secondary hyperparathyroidism: a n application of haplotype-based analysis for multiple linked single nucleotide polymorphisms. (PubMed id 20424473)1, 4 Yokoyama K....Hosoya T. (2010)
    8. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
    9. A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. (PubMed id 16385451)1, 4 Grupe A....Goate A. (2006)
    10. [RET and GFRA1 germline polymorphisms in medullary thyroid cancer patients] (PubMed id 16813162)1, 4 Severskaia N.V....Iasmita S. (2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
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      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 2674 HGNC: 4243 AceView: GFRA1 Ensembl:ENSG00000151892 euGenes: HUgn2674
    ECgene: GFRA1 H-InvDB: GFRA1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for GFRA1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for GFRA1 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for GFRA1 gene:
    Search GeneIP for patents involving GFRA1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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