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Aliases for NRTN Gene

Aliases for NRTN Gene

  • Neurturin 2 3
  • Prepro-Neurturin 2 3
  • NTN 3 6

External Ids for NRTN Gene

Summaries for NRTN Gene

Entrez Gene Summary for NRTN Gene

  • Neurturin is a member of the TGF-beta subfamily, TRN. This gene signals through RET 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, Jul 2008]

GeneCards Summary for NRTN Gene

NRTN (Neurturin) is a Protein Coding gene. Diseases associated with NRTN include nrtn-related hirschsprung disease and constipation. Among its related pathways are L1CAM interactions and L1CAM interactions. GO annotations related to this gene include receptor binding and growth factor activity. An important paralog of this gene is PSPN.

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

Genomic Location for NRTN Gene

Start:
5,823,802 bp from pter
End:
5,828,324 bp from pter
Size:
4,523 bases
Orientation:
Plus strand

Genomic View for NRTN Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for NRTN Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NRTN Gene

Regulatory Elements 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

Proteomics data for NRTN Gene at MOPED

Post-translational modifications for NRTN Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for NRTN Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for NRTN Gene

Domains for NRTN Gene

Gene Families for NRTN Gene

HGNC:

UniProtKB/Swiss-Prot:

NRTN_HUMAN
Family:
  • Belongs to the TGF-beta family. GDNF subfamily.:
    • Q99748
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: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

Animal Models for NRTN Gene

MGI Knock Outs for NRTN:

miRNA for NRTN Gene

miRTarBase miRNAs that target NRTN

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting 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
nucleus 1

Gene Ontology (GO) - Cellular Components for NRTN Gene

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

Pathways for NRTN Gene

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

Pathways by source for NRTN Gene

1 Sino Biological pathway for NRTN Gene
1 GeneGo (Thomson Reuters Life Sciences Research) pathway for NRTN Gene

Gene Ontology (GO) - Biological Process for NRTN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000165 MAPK cascade TAS 8945474
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

Compounds for NRTN Gene

(11) Novoseek inferred chemical compound relationships for NRTN Gene

Compound -log(P) Hits PubMed IDs
tyrosine 63.8 23
6-hydroxydopamine 50.7 3
dopamine 34.1 5
retinoic acid 29.2 2
mptp 17.9 4
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:

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 (8.0), Heart - Left Ventricle (5.3), and Pancreas (4.8).

SOURCE GeneReport for Unigene cluster for NRTN Gene Hs.234775

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

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 36
  • 98.98 (n)
  • 98.98 (a)
NRTN 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia NRTN 36
  • 91.54 (n)
  • 93.91 (a)
NRTN 37
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia NRTN 36
  • 88.55 (n)
  • 89.74 (a)
NRTN 37
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Nrtn 36
  • 82.05 (n)
  • 85.13 (a)
Nrtn 16
Nrtn 37
  • 87 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia NRTN 37
  • 47 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NRTN 37
  • 52 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Nrtn 36
  • 82.22 (n)
  • 84.1 (a)
chicken
(Gallus gallus)
Aves NRTN 37
  • 44 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii NRTN 37
  • 28 (a)
OneToOne
Species with no ortholog for NRTN:
  • 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

Selected 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 MAF
rs708688 -- 5,823,310(+) tactc(A/G)ggggg upstream-variant-2KB
rs708689 -- 5,823,323(+) gaggc(A/C)ggaga upstream-variant-2KB
rs778813 -- 5,822,419(-) CCTCC(C/T)GGCTG upstream-variant-2KB
rs1531616 -- 5,828,369(+) GGGCC(A/G)CGTCG downstream-variant-500B
rs1614324 -- 5,822,306(+) ATGAG(C/T)CGAGC upstream-variant-2KB

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

Variant ID Type Subtype PubMed ID
dgv3693n71 CNV Loss 21882294
dgv3694n71 CNV Loss 21882294
nsv910901 CNV Loss 21882294

Relevant External Links for NRTN Gene

HapMap Linkage Disequilibrium report
NRTN
Human Gene Mutation Database (HGMD)
NRTN

Disorders for NRTN Gene

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.

(2) University of Copenhagen DISEASES for NRTN Gene

(11) Novoseek inferred disease relationships for NRTN Gene

Disease -log(P) Hits PubMed IDs
hirschsprung disease 79 4
parkinson disease 50.9 17
neurodegenerative diseases 46.8 3
retinal degeneration 20.6 3
neurodegeneration 17.6 2

Relevant External Links for NRTN

GeneTests
NRTN
GeneReviews
NRTN
Genetic Association Database (GAD)
NRTN
Human Genome Epidemiology (HuGE) Navigator
NRTN
genes like me logo Genes that share disorders with NRTN: view

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 23
  2. Mutation of the RET ligand, neurturin, supports multigenic inheritance in Hirschsprung disease. (PMID: 9700200) Doray B. … Lyonnet S. (Hum. Mol. Genet. 1998) 3 4 23
  3. 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 23 49
  4. Expression and function of glial cell line-derived neurotrophic factor family ligands and their receptors on human immune cells. (PMID: 16081799) Vargas-Leal V. … Meinl E. (J. Immunol. 2005) 3 23
  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 23

Products for NRTN Gene

Sources for NRTN Gene

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