Human Gene GFRA4 (ENST00000290417.7) from GENCODE V44
  Description: Homo sapiens GDNF family receptor alpha 4 (GFRA4), transcript variant 1, mRNA. (from RefSeq NM_022139)
RefSeq Summary (NM_022139): The protein encoded by this gene is a member of the GDNF receptor family. It is a glycosylphosphatidylinositol(GPI)-linked cell surface receptor for persephin, and mediates activation of the RET tyrosine kinase receptor. This gene is a candidate gene for RET-associated diseases. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008].
Gencode Transcript: ENST00000290417.7
Gencode Gene: ENSG00000125861.16
Transcript (Including UTRs)
   Position: hg38 chr20:3,659,248-3,663,399 Size: 4,152 Total Exon Count: 6 Strand: -
Coding Region
   Position: hg38 chr20:3,659,909-3,663,399 Size: 3,491 Coding Exon Count: 6 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr20:3,659,248-3,663,399)mRNA (may differ from genome)Protein (269 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
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HGNCHPRDLynxMalacardsMGIneXtProt
OMIMPubMedReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: GFRA4_HUMAN
DESCRIPTION: RecName: Full=GDNF family receptor alpha-4; Short=GDNF receptor alpha-4; Short=GDNFR-alpha-4; Short=GFR-alpha-4; AltName: Full=Persephin receptor; Flags: Precursor;
FUNCTION: Receptor for persephin. Mediates the GDNF-induced autophosphorylation and activation of the RET receptor. May be important in C-cell development and, in the postnatal development of the adrenal medulla.
SUBCELLULAR LOCATION: Isoform GFRalpha4a: Cell membrane; Lipid- anchor, GPI-anchor.
SUBCELLULAR LOCATION: Isoform GFRalpha4b: Cell membrane; Lipid- anchor, GPI-anchor.
SUBCELLULAR LOCATION: Isoform GFRalpha4c: Secreted.
TISSUE SPECIFICITY: Predominantly expressed in the adult thyroid gland. Low levels also found in fetal adrenal and thyroid glands.
SIMILARITY: Belongs to the GDNFR family.

-  Primer design for this transcript
 

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Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 0.34 RPKM in Testis
Total median expression: 1.65 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
3' UTR -229.80661-0.348 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR016017 - GDNF/GAS1
IPR003438 - GDNF_rcpt

Pfam Domains:
PF02351 - GDNF/GAS1 domain

ModBase Predicted Comparative 3D Structure on Q9GZZ7
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005088 Ras guanyl-nucleotide exchange factor activity
GO:0016167 glial cell-derived neurotrophic factor receptor activity
GO:0038023 signaling receptor activity

Biological Process:
GO:0000165 MAPK cascade
GO:0007411 axon guidance
GO:0030279 negative regulation of ossification
GO:0035860 glial cell-derived neurotrophic factor receptor signaling pathway

Cellular Component:
GO:0005576 extracellular region
GO:0005615 extracellular space
GO:0005622 intracellular
GO:0005886 plasma membrane
GO:0016020 membrane
GO:0031225 anchored component of membrane


-  Descriptions from all associated GenBank mRNAs
  AF253318 - Homo sapiens GFR receptor alpha 4 protein (GFRA4) mRNA, complete cds.
JD422863 - Sequence 403887 from Patent EP1572962.
JD282132 - Sequence 263156 from Patent EP1572962.
JD295495 - Sequence 276519 from Patent EP1572962.
JD188193 - Sequence 169217 from Patent EP1572962.
JD514010 - Sequence 495034 from Patent EP1572962.
JD063108 - Sequence 44132 from Patent EP1572962.
JD102900 - Sequence 83924 from Patent EP1572962.
JD060771 - Sequence 41795 from Patent EP1572962.
JD439071 - Sequence 420095 from Patent EP1572962.
JD392851 - Sequence 373875 from Patent EP1572962.
JD516418 - Sequence 497442 from Patent EP1572962.
AJ291673 - Homo sapiens mRNA for GDNF family receptor alpha 4, GPI anchored isoform (GFRA4 gene).
AJ291674 - Homo sapiens mRNA for putative GDNF family receptor alpha 4, GPI anchored isoform b (GFRA4 gene).
BC172271 - Synthetic construct Homo sapiens clone IMAGE:100068965, MGC:198976 GDNF family receptor alpha 4 (GFRA4) mRNA, encodes complete protein.
BC172567 - Synthetic construct Homo sapiens clone IMAGE:100069261, MGC:199272 GDNF family receptor alpha 4 (GFRA4) mRNA, encodes complete protein.
JD318086 - Sequence 299110 from Patent EP1572962.
JD409216 - Sequence 390240 from Patent EP1572962.
JD073591 - Sequence 54615 from Patent EP1572962.
JD071393 - Sequence 52417 from Patent EP1572962.
JD404500 - Sequence 385524 from Patent EP1572962.
AJ291675 - Homo sapiens mRNA for putative GDNF family receptor alpha 4, secreted isoform c (GFRA4 gene).

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q9GZZ7 (Reactome details) participates in the following event(s):

R-HSA-8871227 RET binds GFRA4
R-HSA-8853801 PSPN binds RET:GFRA4
R-HSA-375149 Interaction of NCAM1 with GFRalpha-1
R-HSA-375144 Interaction of NCAM1:GFRalpha-1 with GDNF
R-HSA-8853762 RET dimerizes
R-HSA-8854908 PKA phosphorylates RET:GDNF:GFRA dimer
R-HSA-8853792 RET tyrosine phosphorylation
R-HSA-8853737 2x p-5Y-RET:GDNF:GFRA complexes bind SHC1
R-HSA-8853753 2x p-5Y-RET:GDNF:GFRA complexes bind GRB7,10
R-HSA-8853755 2x p-5Y-RET:GDNF:GFRA complexes bind PLCgamma1
R-HSA-8854899 2x p-5Y-RET:GDNF:GFRA complexes bind GRB2-1:SOS1
R-HSA-8855564 2x p-5Y-RET:GDNF:GFRA complexes bind FRS2
R-HSA-8855617 2x p-5Y-RET:GDNF:GFRA complexes binds DOK1,DOK2,DOK4,DOK5,DOK6
R-HSA-8855747 2x p-5Y-RET:GDNF:GFRA complexes bind SRC1, RAP1GAP
R-HSA-8855915 2x p-5Y-RET:GDNF:GFRA complexes bind RET interactors
R-HSA-8853734 2x p-5Y-RET:GDNF:GFRA complexes:p-Y349,Y350,Y427-SHC1 binds GRB2-1:SOS1
R-HSA-5672965 RAS GEFs promote RAS nucleotide exchange
R-HSA-8855508 p-5Y-GAB in RET-GRB2-GAB complexes binds PTPN11
R-HSA-8853659 RET signaling
R-HSA-419037 NCAM1 interactions
R-HSA-422475 Axon guidance
R-HSA-375165 NCAM signaling for neurite out-growth
R-HSA-1266738 Developmental Biology
R-HSA-5673001 RAF/MAP kinase cascade
R-HSA-5684996 MAPK1/MAPK3 signaling
R-HSA-5683057 MAPK family signaling cascades
R-HSA-162582 Signal Transduction

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000290417.1, ENST00000290417.2, ENST00000290417.3, ENST00000290417.4, ENST00000290417.5, ENST00000290417.6, GFRA4_HUMAN, NM_022139, Q5JT74, Q9GZZ7, Q9H191, Q9H192, uc002win.1, uc002win.2, uc002win.3, uc002win.4
UCSC ID: ENST00000290417.7
RefSeq Accession: NM_022139
Protein: Q9GZZ7 (aka GFRA4_HUMAN or GFR4_HUMAN)
CCDS: CCDS13055.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.