Aliases for GFRAL Gene

Aliases for GFRAL Gene

  • GDNF Family Receptor Alpha Like 2 3 5
  • GDNF Family Receptor Alpha-Like 3 4
  • C6orf144 3 4
  • Chromosome 6 Open Reading Frame 144 2
  • BA360D14.1 3
  • IVFI9356 3
  • UNQ9356 3
  • GRAL 3

External Ids for GFRAL Gene

Previous HGNC Symbols for GFRAL Gene

  • C6orf144

Previous GeneCards Identifiers for GFRAL Gene

  • GC06P055192
  • GC06P055027

Summaries for GFRAL Gene

GeneCards Summary for GFRAL Gene

GFRAL (GDNF Family Receptor Alpha Like) is a Protein Coding gene. Diseases associated with GFRAL include Lobomycosis and Epithelial Basement Membrane Dystrophy. An important paralog of this gene is GFRA2.

UniProtKB/Swiss-Prot Summary for GFRAL Gene

  • Brainstem-restricted receptor for GDF15 which regulates food intake, energy expenditure and body weight in response to metabolic and toxin-induced stresses (PubMed:28953886, PubMed:28846097, PubMed:28846098, PubMed:28846099). Upon interaction with its ligand, GDF15, interacts with RET and induces cellular signaling through activation of MAPK- and AKT- signaling pathways.

Additional gene information for GFRAL Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GFRAL Gene

Genomics for GFRAL Gene

GeneHancer (GH) Regulatory Elements for GFRAL Gene

Promoters and enhancers for GFRAL 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
GH06J055628 Enhancer 0.2 FANTOM5 23.4 +300.8 300795 0 GFRAL piR-41880-024 HMGCLL1
GH06J054980 Enhancer 0.9 FANTOM5 Ensembl ENCODE 3.4 -346.2 -346234 1.8 FOXP2 YY2 BCL6B FOS CTCF ZSCAN4 CEBPB STAT3 piR-33422-366 piR-47162-138 ENSG00000224984 ENSG00000261116 GFRAL HSALNG0050745
GH06J055363 Enhancer 0.2 FANTOM5 7.3 +35.8 35775 0 GFRAL HMGCLL1 piR-37026-513 piR-33605-388
GH06J055277 Enhancer 0.5 ENCODE 0.3 -50.0 -49985 0.8 CTCF RAD21 SMC3 ZNF654 SCRT1 ZNF660 SCRT2 ZNF143 HCRTR2 FAM83B HSALNG0050748 GFRAL
GH06J055276 Enhancer 0.5 ENCODE 0.2 -50.5 -50521 0.2 CTCF RAD21 SMC3 ZNF654 SCRT1 ZNF660 SCRT2 ZNF143 HCRTR2 HSALNG0050748 GFRAL
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GFRAL on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GFRAL

Top Transcription factor binding sites by QIAGEN in the GFRAL gene promoter:
  • Bach2
  • FOXC1
  • FOXF2
  • FOXO1
  • FOXO1a
  • FOXO4
  • HFH-1
  • LyF-1
  • POU3F2

Genomic Locations for GFRAL Gene

Genomic Locations for GFRAL Gene
chr6:55,327,469-55,402,493
(GRCh38/hg38)
Size:
75,025 bases
Orientation:
Plus strand
chr6:55,192,267-55,267,291
(GRCh37/hg19)
Size:
75,025 bases
Orientation:
Plus strand

Genomic View for GFRAL Gene

Genes around GFRAL on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for GFRAL Gene

Proteins for GFRAL Gene

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

    Protein Symbol:
    Q6UXV0-GFRAL_HUMAN
    Recommended name:
    GDNF family receptor alpha-like
    Protein Accession:
    Q6UXV0
    Secondary Accessions:
    • Q5VTF6

    Protein attributes for GFRAL Gene

    Size:
    394 amino acids
    Molecular mass:
    44518 Da
    Quaternary structure:
    • Interacts (via the extracellular domain) with GDF15 and RET; receptor of GDF15, mediates cellular signaling through interaction with RET after GDF15-binding (PubMed:28953886, PubMed:28846097, PubMed:28846099). Interaction with RET requires previous GDF15-binding (PubMed:28846097, PubMed:28846099).

    Three dimensional structures from OCA and Proteopedia for GFRAL Gene

neXtProt entry for GFRAL Gene

Post-translational modifications for GFRAL Gene

  • Glycosylation at Asn23, Asn50, Asn62, Asn67, Asn103, and Asn116

Other Protein References for GFRAL Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for GFRAL Gene

Domains & Families for GFRAL Gene

Gene Families for GFRAL Gene

Human Protein Atlas (HPA):
  • Predicted membrane proteins

Protein Domains for GFRAL Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for GFRAL Gene

GenScript: Design optimal peptide antigens:
  • GDNF family receptor alpha-like (GFRAL_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q6UXV0

UniProtKB/Swiss-Prot:

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

Function for GFRAL Gene

Molecular function for GFRAL Gene

UniProtKB/Swiss-Prot Function:
Brainstem-restricted receptor for GDF15 which regulates food intake, energy expenditure and body weight in response to metabolic and toxin-induced stresses (PubMed:28953886, PubMed:28846097, PubMed:28846098, PubMed:28846099). Upon interaction with its ligand, GDF15, interacts with RET and induces cellular signaling through activation of MAPK- and AKT- signaling pathways.

Phenotypes From GWAS Catalog for GFRAL Gene

Gene Ontology (GO) - Molecular Function for GFRAL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 28846097
GO:0016167 glial cell-derived neurotrophic factor receptor activity IDA 28846097
GO:0030971 receptor tyrosine kinase binding IPI,IEA 28846097
GO:0038023 signaling receptor activity IEA --
genes like me logo Genes that share ontologies with GFRAL: view
genes like me logo Genes that share phenotypes with GFRAL: view

Animal Models for GFRAL Gene

MGI Knock Outs for GFRAL:

Animal Model Products

  • Taconic Biosciences Mouse Models for GFRAL

Clone Products

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

Localization for GFRAL Gene

Subcellular locations from UniProtKB/Swiss-Prot for GFRAL Gene

Cell membrane; Single-pass membrane protein; Extracellular side.

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 GFRAL gene
Compartment Confidence
plasma membrane 5
extracellular 2
mitochondrion 1
peroxisome 1
nucleus 1
endoplasmic reticulum 0

Gene Ontology (GO) - Cellular Components for GFRAL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IEA --
GO:0009897 external side of plasma membrane IDA 28953886
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0043235 receptor complex IBA 21873635
genes like me logo Genes that share ontologies with GFRAL: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for GFRAL Gene

Pathways & Interactions for GFRAL Gene

PathCards logo

SuperPathways for GFRAL Gene

No Data Available

Interacting Proteins for GFRAL Gene

;

Gene Ontology (GO) - Biological Process for GFRAL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000187 activation of MAPK activity IDA 28953886
GO:0002023 reduction of food intake in response to dietary excess IEA,ISS --
GO:0007399 nervous system development IBA 21873635
GO:0031098 stress-activated protein kinase signaling cascade IEA --
GO:0035860 glial cell-derived neurotrophic factor receptor signaling pathway IDA 28953886
genes like me logo Genes that share ontologies with GFRAL: view

No data available for Pathways by source and SIGNOR curated interactions for GFRAL Gene

Drugs & Compounds for GFRAL Gene

No Compound Related Data Available

Transcripts for GFRAL Gene

mRNA/cDNA for GFRAL Gene

1 REFSEQ mRNAs :
1 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Clone Products

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

No ASD Table

Relevant External Links for GFRAL Gene

GeneLoc Exon Structure for
GFRAL

Expression for GFRAL Gene

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

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

This gene is overexpressed in Adipose - Subcutaneous (x14.8), Testis (x6.1), Breast - Mammary Tissue (x5.7), and Brain - Cerebellar Hemisphere (x4.1).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GFRAL

SOURCE GeneReport for Unigene cluster for GFRAL Gene:

Hs.526967

mRNA Expression by UniProt/SwissProt for GFRAL Gene:

Q6UXV0-GFRAL_HUMAN
Tissue specificity: Expressed in the brainstem, restricted to cells in the area postrema and the immediately adjacent region of the nucleus tractus solitarius (at protein level) (PubMed:28846097, PubMed:28846098). Detected at low levels in testis and adipose tissue (PubMed:28846097).
genes like me logo Genes that share expression patterns with GFRAL: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for GFRAL Gene

Orthologs for GFRAL Gene

This gene was present in the common ancestor of chordates.

Orthologs for GFRAL Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GFRAL 31 30
  • 99.41 (n)
OneToOne
dog
(Canis familiaris)
Mammalia GFRAL 31 30
  • 88.18 (n)
OneToOne
cow
(Bos Taurus)
Mammalia GFRAL 31 30
  • 83.02 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Gfral 17 31 30
  • 81.17 (n)
rat
(Rattus norvegicus)
Mammalia Gfral 30
  • 79.98 (n)
oppossum
(Monodelphis domestica)
Mammalia GFRAL 31
  • 59 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GFRAL 31
  • 58 (a)
OneToOne
chicken
(Gallus gallus)
Aves GFRAL 31 30
  • 61.33 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GFRAL 31
  • 42 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gfral 30
  • 54.06 (n)
zebrafish
(Danio rerio)
Actinopterygii GFRAL 31
  • 21 (a)
OneToOne
Species where no ortholog for GFRAL 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)
  • 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 GFRAL Gene

ENSEMBL:
Gene Tree for GFRAL (if available)
TreeFam:
Gene Tree for GFRAL (if available)
Aminode:
Evolutionary constrained regions (ECRs) for GFRAL: view image

Paralogs for GFRAL Gene

Paralogs for GFRAL Gene

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

Variants for GFRAL Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GFRAL Gene

SNP ID Clinical significance and condition Chr 06 pos Variation AA Info Type
780120 Benign: not provided 55,359,077(+) A/G SYNONYMOUS_VARIANT
rs1224725337 A breast cancer sample p.Asp195His
rs12199003 - p.Arg33Cys
rs9370418 - p.Ser387Pro

Additional dbSNP identifiers (rs#s) for GFRAL Gene

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

Variant ID Type Subtype PubMed ID
dgv5964n100 CNV gain 25217958
dgv5965n100 CNV gain 25217958
esv3539766 CNV deletion 23714750
esv3571074 CNV loss 25503493
esv3609065 CNV loss 21293372
nsv1034037 CNV gain 25217958
nsv1153415 CNV duplication 26484159
nsv462948 CNV gain 19166990
nsv470819 CNV gain 18288195
nsv5311 CNV deletion 18451855
nsv603162 CNV loss 21841781
nsv603163 CNV gain 21841781

Variation tolerance for GFRAL Gene

Residual Variation Intolerance Score: 75% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.86; 89.67% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GFRAL Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
GFRAL

SNP Genotyping and Copy Number Assay Products

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

Disorders for GFRAL Gene

MalaCards: The human disease database

(2) MalaCards diseases for GFRAL Gene - From: DISEASES

Disorder Aliases PubMed IDs
lobomycosis
  • cutaneous blastomycosis
epithelial basement membrane dystrophy
  • corneal dystrophy, epithelial basement membrane
- elite association - COSMIC cancer census association via MalaCards
Search GFRAL in MalaCards View complete list of genes associated with diseases

Additional Disease Information for GFRAL

genes like me logo Genes that share disorders with GFRAL: view

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

Publications for GFRAL Gene

  1. The metabolic effects of GDF15 are mediated by the orphan receptor GFRAL. (PMID: 28846098) Emmerson PJ … Wu X (Nature medicine 2017) 2 3 4 54
  2. GFRAL is the receptor for GDF15 and the ligand promotes weight loss in mice and nonhuman primates. (PMID: 28846097) Mullican SE … Rangwala SM (Nature medicine 2017) 2 3 4 54
  3. GFRAL is the receptor for GDF15 and is required for the anti-obesity effects of the ligand. (PMID: 28846099) Yang L … Jørgensen SB (Nature medicine 2017) 2 3 4 54
  4. Non-homeostatic body weight regulation through a brainstem-restricted receptor for GDF15. (PMID: 28953886) Hsu JY … Allan BB (Nature 2017) 3 4 54
  5. Identification, expression and functional characterization of the GRAL gene. (PMID: 16086688) Li Z … Zhou J (Journal of neurochemistry 2005) 2 3 54

Products for GFRAL Gene

Sources for GFRAL Gene