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Aliases for NRTN Gene

Aliases for NRTN Gene

  • Neurturin 2 3 3 5
  • Prepro-Neurturin 2 3
  • NTN 3

External Ids for NRTN Gene

Previous GeneCards Identifiers for NRTN Gene

  • GC19P005916
  • GC19P005763
  • GC19P005583

Summaries for NRTN Gene

Entrez Gene Summary for NRTN Gene

  • This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. The encoded preproprotein is proteolytically processed to generate the mature protein. This protein signals through the RET receptor tyrosine kinase and a GPI-linked coreceptor, and promotes survival of neuronal populations. A neurturin mutation has been described in a family with Hirschsprung Disease. [provided by RefSeq, Aug 2016]

GeneCards Summary for NRTN Gene

NRTN (Neurturin) is a Protein Coding gene. Diseases associated with NRTN include Nrtn-Related Hirschsprung Disease and Hirschsprung Disease 1. Among its related pathways are RET signaling and Immune System. GO annotations related to this gene include receptor binding and growth factor activity. An important paralog of this gene is ARTN.

UniProtKB/Swiss-Prot for NRTN Gene

  • Supports the survival of sympathetic neurons in culture. May regulate the development and maintenance of the CNS. Might control the size of non-neuronal cell population such as haemopoietic cells.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NRTN Gene

Genomics for NRTN Gene

Regulatory Elements for NRTN Gene

Enhancers for NRTN Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH19F005850 1.1 Ensembl ENCODE 16.7 +45.8 45826 1.4 ZNF263 ZNF362 HLF CEBPB CEBPG ZEB2 IRF9 ATF3 SCRT2 PATZ1 NRTN DUS3L PRR22 CATSPERD FUT3 LOC101928844
GH19F006018 0.7 ENCODE 11.2 +213.6 213636 0.1 CTCF MAZ REST RAD21 NRTN ACSBG2 NDUFA11 VMAC FUT5 GC19M006019 PIR50631
GH19F005837 0.9 Ensembl ENCODE 8.1 +33.5 33488 2.3 ELF3 MLX ZFP64 ARID4B RAD21 THRB ZSCAN9 ZNF48 RARA SCRT2 NRTN ENSG00000269680 FUT6 GC19M005817
GH19F005826 1.2 Ensembl ENCODE 7.8 +23.0 23038 4.2 HDGF PKNOX1 MLX CREB3L1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 VMAC ENSG00000267571 LOC390877 NDUFA11 ACSBG2 MIR6791 DUS3L PRR22 CATSPERD FUT5
GH19F005798 1.1 Ensembl ENCODE 6 -6.0 -5954 0.9 HDGF ATF1 ARNT CREB3L1 ZNF766 CBX5 ELK1 GATA2 NCOA1 REST DUS3L CATSPERD LONP1 FUT6 FUT3 FUT5 NDUFA11 VMAC VAV1 NRTN
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around NRTN on UCSC Golden Path with GeneCards custom track

Genomic Location for NRTN Gene

Chromosome:
19
Start:
5,805,359 bp from pter
End:
5,828,324 bp from pter
Size:
22,966 bases
Orientation:
Plus strand

Genomic View for NRTN Gene

Genes around NRTN on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for NRTN Gene

Proteins for NRTN Gene

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

    Protein Symbol:
    Q99748-NRTN_HUMAN
    Recommended name:
    Neurturin
    Protein Accession:
    Q99748
    Secondary Accessions:
    • B2RPE8

    Protein attributes for NRTN Gene

    Size:
    197 amino acids
    Molecular mass:
    22405 Da
    Quaternary structure:
    • Homodimer; disulfide-linked.

neXtProt entry for NRTN Gene

Post-translational modifications for NRTN Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for NRTN Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Santa Cruz Biotechnology (SCBT) Antibodies for NRTN

No data available for DME Specific Peptides for NRTN Gene

Domains & Families for NRTN Gene

Gene Families for NRTN Gene

Suggested Antigen Peptide Sequences for NRTN Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q99748

UniProtKB/Swiss-Prot:

NRTN_HUMAN :
  • Belongs to the TGF-beta family. GDNF subfamily.
Family:
  • Belongs to the TGF-beta family. GDNF subfamily.
genes like me logo Genes that share domains with NRTN: view

Function for NRTN Gene

Molecular function for NRTN Gene

GENATLAS Biochemistry:
neurturin,neurotrophic factor,related to glial cell line derived neurotrophic factor,mutated in cases of Hirschsprung disease (TGFB superfamily)
UniProtKB/Swiss-Prot Function:
Supports the survival of sympathetic neurons in culture. May regulate the development and maintenance of the CNS. Might control the size of non-neuronal cell population such as haemopoietic cells.

Gene Ontology (GO) - Molecular Function for NRTN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005088 Ras guanyl-nucleotide exchange factor activity TAS --
GO:0005102 receptor binding TAS 10829012
GO:0008083 growth factor activity IEA --
genes like me logo Genes that share ontologies with NRTN: view
genes like me logo Genes that share phenotypes with NRTN: view

Human Phenotype Ontology for NRTN Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for NRTN Gene

MGI Knock Outs for NRTN:

Animal Model Products

miRNA for NRTN Gene

miRTarBase miRNAs that target NRTN

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for NRTN Gene

Localization for NRTN Gene

Subcellular locations from UniProtKB/Swiss-Prot for NRTN Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for NRTN Gene COMPARTMENTS Subcellular localization image for NRTN gene
Compartment Confidence
extracellular 5
cytoskeleton 1
mitochondrion 1
nucleus 1

Gene Ontology (GO) - Cellular Components for NRTN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005622 intracellular IEA --
GO:0030424 axon IEA --
genes like me logo Genes that share ontologies with NRTN: view

Pathways & Interactions for NRTN Gene

SuperPathways for NRTN Gene

SuperPathway Contained pathways
1 RET signaling
2 GDNF-Family Ligands and Receptor Interactions
3 Developmental Biology
4 Cytokine Signaling in Immune system
5 Immune System
genes like me logo Genes that share pathways with NRTN: view

Pathways by source for NRTN Gene

1 Qiagen pathway for NRTN Gene

SIGNOR curated interactions for NRTN Gene

Activates:

Gene Ontology (GO) - Biological Process for NRTN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000165 MAPK cascade TAS --
GO:0001755 neural crest cell migration IDA 15242795
GO:0007169 transmembrane receptor protein tyrosine kinase signaling pathway IEA,TAS --
GO:0007399 nervous system development TAS 9286710
GO:0021675 nerve development IEA --
genes like me logo Genes that share ontologies with NRTN: view

Drugs & Compounds for NRTN Gene

(5) Drugs for NRTN Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(6) Additional Compounds for NRTN Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with NRTN: view

Transcripts for NRTN Gene

mRNA/cDNA for NRTN Gene

(2) REFSEQ mRNAs :
(5) Additional mRNA sequences :
(24) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for NRTN Gene

Neurturin:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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

No ASD Table

Relevant External Links for NRTN Gene

GeneLoc Exon Structure for
NRTN
ECgene alternative splicing isoforms for
NRTN

Expression for NRTN Gene

mRNA expression in normal human tissues for NRTN Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Heart - Atrial Appendage (x8.0), Heart - Left Ventricle (x5.3), and Pancreas (x4.8).

NURSA nuclear receptor signaling pathways regulating expression of NRTN Gene:

NRTN

SOURCE GeneReport for Unigene cluster for NRTN Gene:

Hs.234775
genes like me logo Genes that share expression patterns with NRTN: view

Primer Products

No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for NRTN Gene

Orthologs for NRTN Gene

This gene was present in the common ancestor of chordates.

Orthologs for NRTN Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NRTN 34 35
  • 98.98 (n)
cow
(Bos Taurus)
Mammalia NRTN 34 35
  • 91.54 (n)
dog
(Canis familiaris)
Mammalia NRTN 34 35
  • 88.55 (n)
rat
(Rattus norvegicus)
Mammalia Nrtn 34
  • 82.22 (n)
mouse
(Mus musculus)
Mammalia Nrtn 34 16 35
  • 82.05 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia NRTN 35
  • 52 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia NRTN 35
  • 47 (a)
OneToOne
chicken
(Gallus gallus)
Aves NRTN 35
  • 44 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii NRTN 35
  • 28 (a)
OneToOne
Species where no ortholog for NRTN 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for NRTN Gene

ENSEMBL:
Gene Tree for NRTN (if available)
TreeFam:
Gene Tree for NRTN (if available)

Paralogs for NRTN Gene

Paralogs for NRTN Gene

(2) SIMAP similar genes for NRTN Gene using alignment to 1 proteins:

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

Variants for NRTN Gene

Sequence variations from dbSNP and Humsavar for NRTN Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
rs754065091 Likely benign 5,827,731(+) CCTTT(C/T)TCTTC intron-variant
rs61731573 Benign 5,824,309(+) CTGGA(C/T)GCCCG reference, synonymous-codon
rs7255720 Benign 5,828,053(+) GAGCG(C/G)GTGCG reference, synonymous-codon
rs79744308 Benign 5,827,754(+) ACCGT(A/G)CACTC reference, missense
rs10401730 -- 5,804,314(+) GGGGG(A/G)CGCTG upstream-variant-2KB

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

Variant ID Type Subtype PubMed ID
esv3893160 CNV loss 25118596
nsv1062851 CNV gain 25217958
nsv1126509 CNV deletion 24896259

Variation tolerance for NRTN Gene

Gene Damage Index Score: 4.58; 65.15% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for NRTN Gene

Human Gene Mutation Database (HGMD)
NRTN
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NRTN

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

Disorders for NRTN Gene

MalaCards: The human disease database

(6) MalaCards diseases for NRTN Gene - From: GeneTests, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
nrtn-related hirschsprung disease
hirschsprung disease 1
  • hirschsprung's disease
megacolon
  • dilatation of colon
intestinal obstruction
colonic disease
  • colon disorder
- elite association - COSMIC cancer census association via MalaCards
Search NRTN in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

NRTN_HUMAN
  • Note=Genetic variations in NRTN may contribute to Hirschsprung disease, in association with mutations of RET gene, and possibly mutations in other loci. Hirschsprung disease is a disorder of neural crest development is characterized by the absence of intramural ganglion cells in the hindgut, often resulting in intestinal obstruction. {ECO:0000269 PubMed:9700200}.

Relevant External Links for NRTN

Genetic Association Database (GAD)
NRTN
Human Genome Epidemiology (HuGE) Navigator
NRTN
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
NRTN
genes like me logo Genes that share disorders with NRTN: view

No data available for Genatlas for NRTN Gene

Publications for NRTN Gene

  1. Neurturin, a relative of glial-cell-line-derived neurotrophic factor. (PMID: 8945474) Kotzbauer P.T. … Milbrandt J. (Nature 1996) 2 3 4 22 64
  2. Polymorphisms in the genes encoding the 4 RET ligands, GDNF, NTN, ARTN, PSPN, and susceptibility to Hirschsprung disease. (PMID: 18970938) Fernandez R.M. … Borrego S. (J. Pediatr. Surg. 2008) 3 22 46 64
  3. Mutation of the RET ligand, neurturin, supports multigenic inheritance in Hirschsprung disease. (PMID: 9700200) Doray B. … Lyonnet S. (Hum. Mol. Genet. 1998) 3 4 22 64
  4. Expression patterns of the glial cell line-derived neurotrophic factor, neurturin, their cognate receptors GFRalpha-1, GFRalpha-2, and a common signal transduction element c-Ret in the human skin hair follicles. (PMID: 18222320) Adly M.A. … Paus R. (J. Am. Acad. Dermatol. 2008) 3 22 64
  5. Glial cell line-derived neurotrophic factor and neurturin inhibit neurite outgrowth and activate RhoA through GFR alpha 2b, an alternatively spliced isoform of GFR alpha 2. (PMID: 17522305) Yoong L.F. … Too H.P. (J. Neurosci. 2007) 3 22 64

Products for NRTN Gene

Sources for NRTN Gene

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