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NRTN Gene

protein-coding   GIFtS: 64
GCID: GC19P005774

Neurturin

  See NRTN-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
neurturin1 2
prepro-neurturin1 2
NTN2 5

External Ids:    HGNC: 80071   Entrez Gene: 49022   Ensembl: ENSG000001711197   OMIM: 6020185   UniProtKB: Q997483   

Export aliases for NRTN gene to outside databases

Previous GC identifers: GC19P005916 GC19P005763 GC19P005583


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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. GO annotations related to this gene include growth factor activity and receptor binding. An important paralog of this gene is GDNF.

UniProtKB/Swiss-Prot: NRTN_HUMAN, Q99748
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




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000019.9  NC_018930.2  NT_011295.12  
Regulatory elements:
   Regulatory transcription factor binding sites in the NRTN gene promoter:
         AhR   Pax-5   AML1a   Olf-1   LUN-1   Meis-1b   Arnt   CP2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidNRTN promoter sequence
   Search Chromatin IP Primers for NRTN

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat NRTN


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 19p13.3   Ensembl cytogenetic band:  19p13.3   HGNC cytogenetic band: 19p13.3

NRTN Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NRTN gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19P005774:  view genomic region     (about GC identifiers)

Start:
5,823,813 bp from pter      End:
5,828,335 bp from pter
Size:
4,523 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: NRTN_HUMAN, Q99748 (See protein sequence)
Recommended Name: Neurturin precursor  
Size: 197 amino acids; 22405 Da
Subunit: Homodimer; disulfide-linked
Secondary accessions: B2RPE8

Explore the universe of human proteins at neXtProt for NRTN: NX_Q99748

Explore proteomics data for NRTN at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See NRTN Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_004549.1  
    ENSEMBL proteins: 
     ENSP00000302648  
    Reactome Protein details: Q99748

    NRTN Human Recombinant Protein Products:

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    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for NRTN

     
    Search eBioscience for Proteins for NRTN 

    NRTN Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of NRTN
    R&D Systems Antibodies for NRTN (Neurturin)
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    Novus Biologicals NRTN Antibodies
    Abcam antibodies for NRTN
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    LSBio Antibodies in human, mouse, rat for NRTN

    NRTN Assay Products:

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    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for NRTN
    Cloud-Clone Corp. CLIAs for NRTN
    Search eBioscience for ELISAs for NRTN 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    ENDOLIG: Endogenous ligands

    1 InterPro protein domain:
     IPR001839 TGF-b_C

    Graphical View of Domain Structure for InterPro Entry Q99748

    ProtoNet protein and cluster: Q99748

    2 Blocks protein domains:
    IPB001839 Transforming growth factor beta (TGFb)
    IPB002400 Growth factor cystine knot superfamily signature


    UniProtKB/Swiss-Prot: NRTN_HUMAN, Q99748
    Similarity: Belongs to the TGF-beta family. GDNF subfamily


    Find genes that share domains with NRTN           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: NRTN_HUMAN, Q99748
    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 entry for NRTN:
    neurturin,neurotrophic factor,related to glial cell line derived neurotrophic factor,mutated in cases of
    Hirschsprung disease (TGFB superfamily)

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005102receptor binding TAS10829012
    GO:0008083growth factor activity IEA--
         
    Find genes that share ontologies with NRTN           About GenesLikeMe


    Phenotypes:
         8 MGI mutant phenotypes (inferred from 1 allele(MGI details for Nrtn):
     behavior/neurological  digestive/alimentary  endocrine/exocrine gland  immune system  muscle 
     nervous system  reproductive system  vision/eye 

    Find genes that share phenotypes with NRTN           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Nrtntm1Jmi for NRTN

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for NRTN
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for NRTN

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for NRTN
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for NRTN

    miRNA
    Products:
        
    miRTarBase miRNAs that target NRTN:
    hsa-mir-124-3p (MIRT022949)

    Block miRNA regulation of human, mouse, rat NRTN using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate NRTN (see all 10):
    hsa-miR-98 hsa-let-7d hsa-miR-202 hsa-let-7c hsa-let-7i hsa-let-7e hsa-let-7g hsa-let-7b
    SwitchGear 3'UTR luciferase reporter plasmidNRTN 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for NRTN
    Predesigned siRNA for gene silencing in human, mouse, rat NRTN

    Gene Editing
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    DNA2.0 Custom Protein Engineering Service for NRTN

    Clone
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    OriGene clones in human, mouse for NRTN (see all 6)
    OriGene ORF clones in mouse, rat for NRTN
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: NRTN (NM_004558)
    Sino Biological Human cDNA Clone for NRTN
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for NRTN
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NRTN

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for NRTN 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NRTN


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    NRTN_HUMAN, Q99748: Secreted
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    cytoskeleton1
    nucleus1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region IEA--
    GO:0030424axon IEA--

    Find genes that share ontologies with NRTN           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for NRTN About    
    See pathways by source

    SuperPathContained pathways About
    1Development EGFR signaling pathway
    Development GDNF family signaling0.45
    GDNF-Family Ligands and Receptor Interactions0.41
    2L1CAM interactions
    Axon guidance0.63
    Developmental Biology0.63
    3NCAM signaling for neurite out-growth
    NCAM1 interactions0.59
    NCAM signaling for neurite out-growth0.59
    4TGF-beta Signaling Pathway (sino)
    TGF-beta Signaling Pathway


    Find genes that share SuperPaths with NRTN           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for NRTN
        GDNF-Family Ligands and Receptor Interactions

    1 GeneGo (Thomson Reuters) Pathway for NRTN
        Development GDNF family signaling

    1 Sino Biological Pathway for NRTN
        TGF-beta Signaling Pathway

    1 Reactome Pathway for NRTN
        NCAM1 interactions


        Pathway & Disease-focused RT2 Profiler PCR Array including NRTN: 
              Growth Factors in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for NRTN

    STRING Interaction Network Preview (showing 5 interactants - click image to see 7)

    Selected Interacting proteins for NRTN (Q997483 ENSP000003026484) via UniProtKB, MINT, STRING, and/or I2D (see all 7)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    GFRA2O004513, ENSP000003066544I2D: score=2 STRING: ENSP00000306654
    GFRA1P561593, ENSP000003937254I2D: score=2 STRING: ENSP00000393725
    RETP079493, ENSP000003479424I2D: score=2 STRING: ENSP00000347942
    ARTNENSP000003919984STRING: ENSP00000391998
    GDNFENSP000003171454STRING: ENSP00000317145
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000165MAPK cascade TAS8945474
    GO:0001755neural crest cell migration IDA15242795
    GO:0007169transmembrane receptor protein tyrosine kinase signaling pathway IEA--
    GO:0007399nervous system development TAS9286710
    GO:0007411axon guidance TAS--

    Find genes that share ontologies with NRTN           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for NRTN

    Selected Novoseek inferred chemical compound relationships for NRTN gene (see all 11)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tyrosine 63.8 28 9192898 (2), 9192899 (2), 9576965 (1), 9740802 (1) (see all 21)
    6-hydroxydopamine 50.7 4 17164776 (1), 9491986 (1), 11043566 (1)
    dopamine 34.1 8 12739234 (2), 18394569 (1), 12953054 (1), 11106404 (1)
    retinoic acid 29.2 3 16125842 (1), 10493748 (1)
    mptp 17.9 6 12739234 (2), 17192932 (2)
    heparan sulfate 11.7 1 16709187 (1)
    glutamate 10.3 4 10356295 (1), 10686085 (1), 19127583 (1), 18064044 (1)
    pd 98,059 10.1 1 16294336 (1)
    choline 0 1 10356295 (1)
    heparin 0 2 16709187 (1), 17298301 (1)



    Find genes that share compounds with NRTN           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for NRTN gene: 
    NM_004558.3  

    Unigene Cluster for NRTN:

    Neurturin
    Hs.234775  [show with all ESTs]
    Unigene Representative Sequence: AL161995
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000303212(uc002mde.3)
    miRNA
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    Block miRNA regulation of human, mouse, rat NRTN using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate NRTN (see all 10):
    hsa-miR-98 hsa-let-7d hsa-miR-202 hsa-let-7c hsa-let-7i hsa-let-7e hsa-let-7g hsa-let-7b
    SwitchGear 3'UTR luciferase reporter plasmidNRTN 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat NRTN
    Clone
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    OriGene ORF clones in mouse, rat for NRTN
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: NRTN (NM_004558)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for NRTN
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NRTN
    Primer
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    OriGene qPCR primer pairs and template standards for NRTN
    OriGene qSTAR qPCR primer pairs in human, mouse for NRTN
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat NRTN
      QuantiTect SYBR Green Assays in human, mouse, rat NRTN
      QuantiFast Probe-based Assays in human, mouse, rat NRTN

    Additional mRNA sequence: 

    AL161995.1 BC127182.1 BC137399.1 BC137400.1 U78110.1 

    1 DOTS entry:

    DT.70102272 

    24 AceView cDNA sequences:

    BM665236 BQ777668 BM677930 AL161995 U78110 BM725812 CD674761 BM709473 
    BM696192 NM_004558 BQ189286 BX281647 BM728052 BU156968 BU733441 BM680617 
    BF306373 BM702521 AW249852 BM726983 AW050617 BQ648291 CK902271 BQ646146 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    NRTN expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGATTATCGA
    NRTN Expression
    About this image


    NRTN expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 5) fully expand
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 4 entries
             Muscle Satellite Cells Lumbar Muscle Satellite Pool
     
     Gut Tube (Gastrointestinal Tract)
             Foregut
     
     Brain (Nervous System)
             Cerebellum
     
     Kidney (Urinary System)    fully expand to see all 2 entries
             mK3
     
     Eye (Sensory Organs)
    NRTN Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    NRTN Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.234775
        Pathway & Disease-focused RT2 Profiler PCR Array including NRTN: 
              Growth Factors in human mouse rat

    Primer
    Products:
    OriGene qPCR primer pairs and template standards for NRTN
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    QuantiFast Probe-based Assays in human, mouse, rat NRTN
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NRTN

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for NRTN gene from Selected species (see all 9)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Nrtn1 , 5 neurturin1, 5 82.05(n)1
    85.13(a)1
      17 (29.49 cM)5
    181881  NM_008738.21  NP_032764.11 
     567513255 
    chicken
    (Gallus gallus)
    Aves NRTN6
    Gallus gallus neurturin (NRTN), mRNA.
    44(a)
    1 ↔ 1
    28(1507549-1509672)
    zebrafish
    (Danio rerio)
    Actinopterygii NRTN6
    neurturin
    28(a)
    1 ↔ 1
    11(6384592-6388773) ENSDARG00000079849


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for NRTN gene
    GDNF2  PSPN2  ARTN2  
    2 SIMAP similar genes for NRTN using alignment to 1 protein entry:     NRTN_HUMAN:
    GDNF    PSPN

    Find genes that share paralogs with NRTN           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for NRTN (see all 181)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1477648321,2
    --5746361(+) GCTCCA/CAAGCC 1 -- us2k10--------
    rs81116001,2
    C,F,H--5746433(+) TCTAAC/TCCTTG 1 -- us2k1 tfbs316Minor allele frequency- T:0.08NS EA NA WA 2336
    rs1426591561,2
    C--5746459(+) ATTTTA/GTGCCT 1 -- us2k10--------
    rs1837034731,2
    --5746472(+) GTTTCC/TCTAGC 1 -- us2k10--------
    rs104116441,2
    C,F,A--5746506(+) tctctT/Agtggg 1 -- us2k11Minor allele frequency- A:0.23WA 118
    rs792030771,2
    C,F--5746663(+) AGGCGC/TGGTCC 1 -- us2k11Minor allele frequency- T:0.22WA 118
    rs16788511,2
    C,F--5746781(+) CATGAG/ACCGAG 1 -- us2k16Minor allele frequency- A:0.42EA NA WA 378
    rs16143241,2
    C,F,A--5746782(+) ATGAGC/TCGAGC 1 -- us2k17Minor allele frequency- T:0.41NA WA EA 366
    rs1469004201,2
    --5746784(+) GAGCCA/GAGCCC 1 -- us2k10--------
    rs768999911,2
    C,F--5746835(+) TGCTCG/TGTGTA 1 -- us2k13Minor allele frequency- T:0.05WA NA EA 358

    HapMap Linkage Disequilibrium report for NRTN (5823813 - 5828335 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for NRTN:    About this table    
    Variant IDTypeSubtypePubMed ID
    dgv3694n71CNV Loss21882294
    dgv3693n71CNV Loss21882294
    nsv910901CNV Loss21882294

    Human Gene Mutation Database (HGMD): NRTN
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing NRTN
    DNA2.0 Custom Variant and Variant Library Synthesis for NRTN

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 602018    OMIM disorders: --

    UniProtKB/Swiss-Prot: NRTN_HUMAN, Q99748
  • 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

  • 9 diseases for NRTN:    
    About MalaCards
    nrtn-related hirschsprung disease    constipation    nephroblastoma    steatocystoma multiplex
    keratoconjunctivitis sicca    megacolon    hirschsprung's disease    huntington's disease
    parkinson's disease

    2 diseases from the University of Copenhagen DISEASES database for NRTN:
    Parkinson's disease     Hirschsprung's disease

    Find genes that share disorders with NRTN           About GenesLikeMe

    Selected Novoseek inferred disease relationships for NRTN gene (see all 11)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    hirschsprung disease 79 5 9700200 (2), 18970938 (1), 11316186 (1)
    parkinson disease 50.9 24 12176170 (4), 17532642 (2), 17443702 (2), 19349823 (2) (see all 10)
    neurodegenerative diseases 46.8 3 10652334 (1), 11106404 (1), 12960779 (1)
    retinal degeneration 20.6 3 11239244 (2), 14596863 (1)
    neurodegeneration 17.6 2 10686085 (1), 17164776 (1)
    movement disorders 9.89 1 11891666 (1)
    huntington disease 6.53 3 11891666 (2)
    leukemia 0 1 17318723 (1)
    necrosis 0 1 12960779 (1)
    inflammation 0 1 14507865 (1)

    GeneTests: NRTN
    GeneReviews: NRTN
    Genetic Association Database (GAD): NRTN
    Human Genome Epidemiology (HuGE) Navigator: NRTN (1 document)

    Export disorders for NRTN gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

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    PubMed articles for NRTN gene, integrated from 10 sources (see all 151):
    (articles sorted by number of sources associating them with NRTN)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Neurturin, a relative of glial-cell-line-derived neurotrophic factor. (PubMed id 8945474)1, 2, 3, 9 Kotzbauer P.T.... Milbrandt J. (Nature 1996)
    2. Mutation of the RET ligand, neurturin, supports multigenic inheritance in Hirschsprung disease. (PubMed id 9700200)1, 2, 9 Doray B.... Lyonnet S. (Hum. Mol. Genet. 1998)
    3. Polymorphisms in the genes encoding the 4 RET ligands, GDNF, NTN, ARTN, PSPN, and susceptibility to Hirschsprung disease. (PubMed id 18970938)1, 4, 9 Fernandez R.M....Borrego S. (J. Pediatr. Surg. 2008)
    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. (PubMed id 18222320)1, 9 Adly M.A....Paus R. (J. Am. Acad. Dermatol. 2008)
    5. A GPI-linked protein that interacts with Ret to form a candidate neurturin receptor. (PubMed id 9192898)1, 9 Klein R.D....Rosenthal A. (Nature 1997)
    6. 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. (PubMed id 17522305)1, 9 Yoong L.F. and Too H.P. (J. Neurosci. 2007)
    7. Expression and function of glial cell line-derived neurotrophic factor family ligands and their receptors on human immune cells. (PubMed id 16081799)1, 9 Vargas-Leal V....Meinl E. (J. Immunol. 2005)
    8. Glial cell-line derived neurotrophic factor and neurturin regulate the expressions of distinct miRNA precursors through the activation of GFRalpha2. (PubMed id 16895582)1, 9 Yoong L.F....Too H.P. (J. Neurochem. 2006)
    9. Neurturin, a novel neurotrophic factor, is localized to mouse chromosome 17 and human chromosome 19p13.3. (PubMed id 9286710)1, 9 Heuckeroth R.O....Milbrandt J. (Genomics 1997)
    10. Neurturin responsiveness requires a GPI-linked receptor and the Ret receptor tyrosine kinase. (PubMed id 9192899)1, 9 Buj-Bello A....Davies A.M. (Nature 1997)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 4902 HGNC: 8007 AceView: NRTN Ensembl:ENSG00000171119 euGenes: HUgn4902
    ECgene: NRTN H-InvDB: NRTN

    (According to HUGE)
    About This Section

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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for NRTN Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/gtr/tests/11470/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for NRTN gene:
    Search GeneIP for patents involving NRTN

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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