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... See more...

Aliases for NRTN Gene

Aliases for NRTN Gene

  • Neurturin 2 3 4 5
  • Prepro-Neurturin 2 3
  • NTN 3

External Ids for NRTN Gene

Previous GeneCards Identifiers for NRTN Gene

  • GC19P005916
  • GC19P005763
  • GC19P005774
  • 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 Hirschsprung Disease 1 and Megacolon. Among its related pathways are RET signaling and Signaling by GPCR. Gene Ontology (GO) annotations related to this gene include signaling receptor binding and growth factor activity. An important paralog of this gene is ARTN.

UniProtKB/Swiss-Prot Summary 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.

Additional gene information for NRTN Gene

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

Genomics for NRTN Gene

GeneHancer (GH) Regulatory Elements for NRTN Gene

Promoters and enhancers for NRTN 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
GH19J005803 Promoter/Enhancer 1.7 ENCODE CraniofacialAtlas dbSUPER 505.6 -0.4 -384 3.2 RXRA HNRNPK CTCF ZSCAN5C NRF1 MYC TEAD4 ZNF639 ZNF10 ZIC2 NRTN lnc-DUS3L-1 DUS3L CATSPERD LONP1 FUT6 FUT3 FUT5 NDUFA11 VMAC
GH19J005851 Promoter/Enhancer 1.5 EPDnew Ensembl ENCODE dbSUPER 17.6 +44.5 44493 4.1 NFIC ZBTB17 ZNF263 CEBPG FOS CEBPB KLF17 ZNF384 ATF4 ZNF398 FUT3 lnc-FUT6-1 NRTN DUS3L PRR22 CATSPERD LOC101928844
GH19J005837 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE dbSUPER 8.1 +33.4 33441 2.4 POLR2G NCOR1 KDM6A ZNF623 TGIF2 ZBTB7A TEAD1 ZBTB26 RBM25 ZSCAN9 FUT6 lnc-FUT3-1 DUS3L SNRPEP4 KHSRP NRTN ENSG00000269680 lnc-NRTN-1
GH19J005826 Promoter/Enhancer 1.8 ENCODE CraniofacialAtlas dbSUPER 7.8 +22.8 22773 3.7 HNRNPK ZBTB40 NRF1 TCF12 POLR2G NCOR1 GTF2E2 PHF8 JUND FOS DUS3L KHSRP VMAC ENSG00000267571 SAFB2 NDUFA11 SNRPEP4 PTPRS RANBP3 PRR22
GH19J006018 Enhancer 0.7 Ensembl ENCODE 11.2 +213.6 213571 0.3 CTCF GABPA REST VEZF1 RAD21 MAZ MAX ZNF143 NRTN ACSBG2 NDUFA11 VMAC FUT5 piR-56632 RF00017-2768 LOC100128568 RFX2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NRTN on UCSC Golden Path with GeneCards custom track

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

Top Transcription factor binding sites by QIAGEN in the NRTN gene promoter:
  • AhR
  • AML1a
  • Arnt
  • CP2
  • LUN-1
  • Meis-1b
  • Olf-1
  • Pax-5

Genomic Locations for NRTN Gene

Genomic Locations for NRTN Gene
chr19:5,805,359-5,828,324
(GRCh38/hg38)
Size:
22,966 bases
Orientation:
Plus strand
chr19:5,823,813-5,828,335
(GRCh37/hg19)
Size:
4,523 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.

    Three dimensional structures from OCA and Proteopedia for NRTN Gene

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:

No data available for DME Specific Peptides for NRTN Gene

Domains & Families for NRTN Gene

Gene Families for NRTN Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted secreted proteins

Protein Domains for NRTN Gene

Blocks:
  • Transforming growth factor beta (TGFb)
  • Growth factor cystine knot superfamily signature
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for NRTN Gene

GenScript: Design optimal peptide antigens:
  • Neurturin (NRTN_HUMAN)

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

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.
GENATLAS Biochemistry:
neurturin,neurotrophic factor,related to glial cell line derived neurotrophic factor,mutated in cases of Hirschsprung disease (TGFB superfamily)

Phenotypes From GWAS Catalog for NRTN Gene

Gene Ontology (GO) - Molecular Function for NRTN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005102 signaling receptor binding TAS 10829012
GO:0008083 growth factor activity IBA 21873635
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

CRISPR Products

miRNA for NRTN Gene

miRTarBase miRNAs that target NRTN

Clone 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
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 NRTN gene
Compartment Confidence
extracellular 5
plasma membrane 2
cytoskeleton 2
mitochondrion 2
nucleus 2
endoplasmic reticulum 1
endosome 1
cytosol 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for NRTN Gene

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

Pathways & Interactions for NRTN Gene

PathCards logo

SuperPathways for NRTN Gene

SuperPathway Contained pathways
1 RET signaling
2 GDNF-Family Ligands and Receptor Interactions
.41
.41
3 Developmental Biology
4 Cytokine Signaling in Immune system
5 Innate Immune System
genes like me logo Genes that share pathways with NRTN: view

Pathways by source for NRTN Gene

1 GeneGo (Thomson Reuters) pathway for NRTN Gene
  • Development GDNF family signaling
1 Qiagen pathway for NRTN Gene
  • GDNF-Family Ligands and Receptor Interactions

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 --
GO:0007399 nervous system development TAS 9286710
GO:0007411 axon guidance TAS --
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

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

CRISPR Products

Clone 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

Expression for NRTN Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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).

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

SOURCE GeneReport for Unigene cluster for NRTN Gene:

Hs.234775

Evidence on tissue expression from TISSUES for NRTN Gene

  • Blood(4)
  • Nervous system(2.5)
  • Kidney(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for NRTN Gene

Germ Layers:
  • ectoderm
  • endoderm
Systems:
  • digestive
  • immune
  • nervous
Regions:
Head and neck:
  • brain
  • head
Thorax:
  • esophagus
Abdomen:
  • duodenum
  • intestine
  • large intestine
  • small intestine
  • stomach
Pelvis:
  • rectum
genes like me logo Genes that share expression patterns with NRTN: view

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 31 30
  • 98.98 (n)
OneToOne
cow
(Bos Taurus)
Mammalia NRTN 31 30
  • 91.54 (n)
OneToOne
dog
(Canis familiaris)
Mammalia NRTN 31 30
  • 88.55 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Nrtn 30
  • 82.22 (n)
mouse
(Mus musculus)
Mammalia Nrtn 17 31 30
  • 82.05 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia NRTN 31
  • 52 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia NRTN 31
  • 47 (a)
OneToOne
chicken
(Gallus gallus)
Aves NRTN 31
  • 44 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii NRTN 31
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for NRTN: view image

Paralogs for NRTN Gene

Paralogs for NRTN Gene

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

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

Variants for NRTN Gene

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

SNP ID Clinical significance and condition Chr 19 pos Variation AA Info Type
rs61731573 Benign: not specified 5,824,309(+) C/T SYNONYMOUS_VARIANT
rs7255720 Benign: not specified 5,828,053(+) G/C SYNONYMOUS_VARIANT
rs754065091 Likely Benign: not specified 5,827,731(+) C/T INTRON_VARIANT
rs79744308 Benign: not specified 5,827,754(+) G/A MISSENSE_VARIANT
rs575363266 - p.Ala96Ser

Additional dbSNP identifiers (rs#s) for NRTN Gene

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)

Additional Variant Information for NRTN Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for NRTN Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
hirschsprung disease 1
  • hirschsprung disease, susceptibility to, 1
megacolon
  • dilatation of colon
intestinal obstruction
keratoconjunctivitis sicca
  • kcs
choroid plexus meningioma
  • choroid meningioma
- 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}.

Additional Disease Information for NRTN

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 PT … Milbrandt J (Nature 1996) 2 3 4 23 54
  2. Polymorphisms in the genes encoding the 4 RET ligands, GDNF, NTN, ARTN, PSPN, and susceptibility to Hirschsprung disease. (PMID: 18970938) Fernandez RM … Borrego S (Journal of pediatric surgery 2008) 3 23 41 54
  3. Mutation of the RET ligand, neurturin, supports multigenic inheritance in Hirschsprung disease. (PMID: 9700200) Doray B … Lyonnet S (Human molecular genetics 1998) 3 4 23 54
  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 MA … Paus R (Journal of the American Academy of Dermatology 2008) 3 23 54
  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 LF … Too HP (The Journal of neuroscience : the official journal of the Society for Neuroscience 2007) 3 23 54

Products for NRTN Gene

Sources for NRTN Gene