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

GFRA1 Gene

protein-coding   GIFtS: 61
GCID: GC10M117813

GDNF family receptor alpha 1


(Previous symbol: GDNFRA)
 Explore 46 diseases affiliated with
GFRA1 via our new
 Human Malady Compendium 
Biological research products
for GFRA1
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
GDNF Family Receptor Alpha 11 2     RET Ligand 12 3
GDNFRA1 2 3 5     TGF-Beta-Related Neurotrophic Factor Receptor 12 3
RETL11 2 3     GDNF Family Receptor Alpha-12
TRNR11 2 3     Glial Cell Line-Derived Neurotrophic Factor Receptor Alpha2
GDNFR1 2 5     GPI-Linked Anchor Protein2
GFR-ALPHA-11 2     PI-Linked Cell-Surface Accessory Protein2
RET1L1 2     TGF-Beta Related Neurotrophic Factor Receptor 12
GDNFR-Alpha-11     GFR-Alpha-11
GDNF Receptor Alpha-12 3     

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:
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)

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)


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000010.10  NC_018921.1  NT_030059.13  
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 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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

GFRA1 Protein expression data from MOPED and PaxDb:    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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OriGene Purified Protein: GFRA1
OriGene Protein Over-expression Lysate (see all 3): GFRA1
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Novus Biologicals GFRA1 Proteins
Novus Biologicals GFRA1 Lysates
Sino Biological Recombinant Protein for GFRA1
Browse ProSpec Recombinant Proteins
Browse Proteins at Uscn

Gene Ontology (GO): 5/8 cellular component terms (GO ID links to tree view) (see all 8):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005615extracellular space IEA--
GO:0005886plasma membrane ----
GO:0009897external side of plasma membrane IEA--
GO:0019898extrinsic to membrane NAS--
GO:0030424axon IEA--

GFRA1 for ontologies           About GeneDecksing



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Browse ELISAs and CLIAs at Uscn


(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

GFRA1 for domains           About GeneDecksing

4 InterPro domains/families:
 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 families:
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


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, 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, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 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): 4 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: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:
     Mouse knock-outs for GFRA1: Gfra1tm1Jmi Gfra1tm1Bjh Gfra1tm1Rosl
   inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for GFRA1 

miRNA
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QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat GFRA1
8/88 QIAGEN miScript miRNA Assays for microRNAs that regulate GFRA1 (see all 88):
hsa-miR-194* hsa-miR-607 hsa-miR-300 hsa-miR-342-3p hsa-miR-519a hsa-miR-29a* hsa-miR-3148 hsa-miR-761
SwitchGear 3'UTR luciferase reporter plasmidGFRA1 3' UTR sequence
Inhib. RNA
Products:
    
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OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for GFRA1 (see all 7)
OriGene shRNA RFP: GFRA1
OriGene siRNA: GFRA1
QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat GFRA1
Sirion Biotech Custom design and validation of potent shRNA sequences against GFRA1 

Gene Editing
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Clone
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OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for GFRA1 (see all 5)
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GenScript: all cDNA clones in your preferred vector (see all 3): GFRA1 (NM_005264)
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Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GFRA1 

Cell Line
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Sirion Biotech Customized inducible overexpressing cell line services for GFRA1

In Situ Assay
Products:
   

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GFRA1


(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/6 super-pathways (see all 6About this table 
See pathways by source

Super-pathwaycontained gene-specific pathways
1Development EGFR signaling pathway
Development GDNF family signaling0.45
GDNF-Family Ligands and Receptor Interactions0.21
Development_GDNF family signaling0.45
2NCAM signaling for neurite out-growth
NCAM signaling for neurite out-growth1.00
NCAM1 interactions0.62
3Axon guidance
Axon guidance1.00
Developmental Biology0.69
4G-protein signaling K-RAS regulation pathway
G-protein signaling_H-RAS regulation pathway0.27
G-protein signaling H-RAS regulation pathway0.27
5Diurnally regulated genes with circadian orthologs
Diurnally regulated genes with circadian orthologs1.00

Pathway sources
See GeneCards unified pathways
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

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): 5/7 biological process terms (GO ID links to tree view) (see all 7):    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, 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
Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for GFRA1
8 Novoseek 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 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
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, Sirion Biotech, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, 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

miRNA
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QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat GFRA1
8/88 QIAGEN miScript miRNA Assays for microRNAs that regulate GFRA1 (see all 88):
hsa-miR-194* hsa-miR-607 hsa-miR-300 hsa-miR-342-3p hsa-miR-519a hsa-miR-29a* hsa-miR-3148 hsa-miR-761
SwitchGear 3'UTR luciferase reporter plasmidGFRA1 3' UTR sequence
Inhib. RNA
Products:
     
Browse for Gene Knock-down Tools from EMD Millipore
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OriGene shRNA RFP: GFRA1
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Sirion Biotech Custom design and validation of potent shRNA sequences against GFRA1 
Clone
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OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for GFRA1 (see all 5)
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OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for GFRA1
Browse OriGene validated miRNA SYBR primer pairs
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  QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat GFRA1
  QIAGEN QuantiFast Probe-based Assays in human, mouse, rat GFRA1

Additional cDNA 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 AI804110 BM669624 BU860284 AF042080 BG696764 AI049675 AI092346 
BX953798 BX106828 CA449277 AI024284 AA573164 BI761045 BI761463 BX427432 
AA683197 CA487292 AW263087 AI467912 BU955785 U95847 AI638398 BQ005352 

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)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GCTGCCTCAC
GFRA1 Expression
About this image

GFRA1 expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table

10/16 LifeMap In Vivo Development Anatomical Compartments/Cells (see all 16
Tissue Anatomical Compartment CellCategory (developmental path)
KidneyUreteric BudUreteric Bud CellsKidney
TestisSeminiferous TubulesSpermatogonial Stem CellsGerm Cells, Male Gametocytes
Gut TubeMidgutMidgut Endoderm CellsEndoderm
Spinal CordSpinal Dorsal ColumnsDorsal Spinal Cord Progenitor CellsSpinal Cord
Spinal CordSpinal Ventral ColumnsVentral Spinal Cord Progenitor CellsMotor Neurons
BrainHypothalamusBrain
BrainMedulla OblongataBrain
BrainThalamusBrain
Gut TubeMidgutGut Tube
HeartDorsal AortaHeart
Expression: Positive    Negative     Selective marker
Experimental details: Curated     Microarrays     In-situ hybridization
Stem Cell Differentiation: 9 LifeMap Cells 
NameCategory
ES-J1 (Embryonic Stem Cell)Early Embryo, Inner Cell Mass
PureStem™ progenitor E68 (Embryonic Progenitor Cell)
PureStem™ epithelial progenitor E164 (Embryonic Progenitor Cell)Intermediate Mesoderm, Kidney
PureStem™ mesenchymal progenitor 4D20.8 (Embryonic Progenitor Cell)Lateral Plate Mesoderm, Neural Crest
PureStem™ progenitor E69 (Embryonic Progenitor Cell)
PureStem™ progenitor U31 (Embryonic Progenitor Cell)
Adult human kidney epithelial cells (Primary Cell)Kidney
Long-time differentiated EBs (Derivation of embryo...)
Posterior foregut-like cells (A scalable, suspensi...)

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

Primer
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OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for GFRA1
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QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat GFRA1
QIAGEN QuantiFast Probe-based Assays in human, mouse, rat GFRA1
In Situ
Assay Products:
 

 
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 4/12 species (see all 12)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
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
--
74(a)
1 ↔ 1
GL343206.1(2300055-2585627)
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  GFRAL2  GFRA42  
2 SIMAP similar genes for GFRA1 using alignment to 3 protein entries:     GFRA1_HUMAN (see all proteins):
GFRA2    GFRA3

GFRA1 for paralogs           About GeneDecksing



(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

10/4154 NCBI SNPs in GFRA1 are shown (see all 4154    About this table
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 10 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs354933941,2
C--111477778(+) AAAAA-/AAAAAA 1 -- int12Minor allele frequency- A:0.25NA 4
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,A,H--117816443(-) TTTTTA/TAAAAA 3 -- ut314Minor allele frequency- T:0.17NA WA EA 360
rs1159662051,2
C,F--117816456(+) AAAACA/CATGTT 3 -- ut311Minor allele frequency- C:0.03WA 118

HapMap Linkage Disequilibrium report for GFRA1 (117816436 - 118033126 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 2 variations for GFRA1
     2 CNVs: 48418 48004
Human Gene Mutation Database (HGMD): GFRA1

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

GFRA1 for disorders           About GeneDecksing

OMIM gene information: 601496    OMIM disorders: --

20/46 diseases for GFRA1 (see all 46):    About MalaCards
hirschsprung's disease    multiple endocrine neoplasia type 2a    central hypoventilation syndrome    paroxysmal nocturnal hemoglobinuria
congenital central hypoventilation syndrome    multiple endocrine neoplasia    bile duct carcinoma    vesicoureteral reflux
hemoglobinuria    amyotrophic lateral sclerosis    lateral sclerosis    thyroid medullary carcinoma
neuroendocrine tumor    prolactinoma    renal agenesis    pituitary tumor
hemolytic anemia    neuronitis    motor neuron disease    peripheral neuropathy

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

10/16 Novoseek 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 170):
(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. 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)
  6. Large-scale search of single nucleotide polymorphisms for hepatocellular carcinoma susceptibility genes in patients with hepatitis C. (PubMed id 16175604)1, 4 Kato N....Omata M. (2005)
  7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
  8. An unappreciated role for RNA surveillance. (PubMed id 14759258)1, 2 Hillman R.T.... Brenner S.E. (2004)
  9. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
  10. Investigation of germline GFRA4 mutations and evaluation of the involvement of GFRA1, GFRA2, GFRA3, and GFRA4 sequence variants in Hirschsprung disease. (PubMed id 12624147)1, 4 Borrego S....Eng C. (2003)

(in PubMed, OMIM, and NCBI Bookshelf)
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(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:
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