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Aliases for NRTN Gene

Aliases for NRTN Gene

  • Neurturin 2 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

  • 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 hirschsprung disease 1. Among its related pathways are Signaling by GPCR and Immune System. 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

Regulatory Elements for NRTN Gene

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

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:
REFSEQ proteins:

Antibody Products

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 --
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

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 IEA,TAS --
genes like me logo Genes that share ontologies with NRTN: view

Pathways & Interactions for NRTN Gene

SuperPathways for NRTN Gene

Superpath Contained pathways
1 Interleukin-3, 5 and GM-CSF signaling
2 Signaling by GPCR
3 Immune System
4 Developmental Biology
5 GDNF-Family Ligands and Receptor Interactions
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
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: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

(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 (x8.0), Heart - Left Ventricle (x5.3), and Pancreas (x4.8).

SOURCE GeneReport for Unigene cluster for NRTN Gene Hs.234775

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

Primer Products

In Situ Assay Products

No data available for Protein differential expression in normal tissues , Protein expression , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners 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
cow
(Bos Taurus)
Mammalia NRTN 35
  • 91.54 (n)
  • 93.91 (a)
NRTN 36
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia NRTN 35
  • 88.55 (n)
  • 89.74 (a)
NRTN 36
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Nrtn 35
  • 82.05 (n)
  • 85.13 (a)
Nrtn 16
Nrtn 36
  • 87 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia NRTN 35
  • 98.98 (n)
  • 98.98 (a)
NRTN 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Nrtn 35
  • 82.22 (n)
  • 84.1 (a)
oppossum
(Monodelphis domestica)
Mammalia NRTN 36
  • 47 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NRTN 36
  • 52 (a)
OneToOne
chicken
(Gallus gallus)
Aves NRTN 36
  • 44 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii NRTN 36
  • 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

(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
rs575363266 - 5,827,865(+) CGCGT(G/T)CGCGG reference, missense
rs1466326 -- 5,808,249(-) TGGGT(C/T)CTCCG intron-variant
rs898010 -- 5,806,675(-) GGAGT(C/T)GGTGC intron-variant
rs1531616 -- 5,828,369(+) GGGCC(A/G)CGTCG downstream-variant-500B
rs2007761 -- 5,813,414(+) cgcct(A/G)taatc intron-variant

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

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

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

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

Disorders for NRTN Gene

MalaCards: The human disease database

(7) 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
keratoconjunctivitis sicca
  • xerophthalmia
intestinal obstruction
- 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 23 67
  2. 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 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
  4. 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
  5. Glial cell-line derived neurotrophic factor and neurturin regulate the expressions of distinct miRNA precursors through the activation of GFRalpha2. (PMID: 16895582) Yoong L.F. … Too H.P. (J. Neurochem. 2006) 3 23

Products for NRTN Gene

Sources for NRTN Gene

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