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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

NRTN Gene

protein-coding   GIFtS: 63
GCID: GC19P005774

Neurturin

Microbiology & Infectious Diseases Congress
  See 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)
About This Section

Aliases
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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 nephroblastoma, and among its related super-pathways are Development EGFR signaling pathway and Axon guidance. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000019.9  NC_018930.2  NT_011255.14  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for NRTN

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: NRTN_HUMAN, Q99748 (See protein sequence)
Recommended Name: Neurturin precursor  
Size: 197 amino acids; 22405 Da
Subunit: Homodimer; disulfide-linked
Subcellular location: Secreted
Secondary accessions: B2RPE8

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

Explore proteomics data for NRTN at MOPED 

NRTN Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

NRTN Protein Expression

REFSEQ proteins: NP_004549.1  
ENSEMBL proteins: 
 ENSP00000302648  
Reactome Protein details: Q99748
Human Recombinant Protein Products for NRTN: 
Browse Purified and Recombinant Proteins at EMD Millipore
R&D Systems Recombinant & Natural Proteins for NRTN (Neurturin)
Browse recombinant and purified proteins available from Enzo Life Sciences
Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
OriGene Protein Over-expression Lysate for NRTN
OriGene Custom MassSpec 
OriGene Custom Protein Services for NRTN
GenScript Custom Purified and Recombinant Proteins Services for NRTN
Novus Biologicals NRTN Protein
Novus Biologicals NRTN Lysate
Browse Sino Biological Recombinant Proteins
Browse Sino Biological Cell Lysates 
Browse ProSpec Recombinant Proteins
Cloud-Clone Corp. Proteins for NRTN 

Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

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

NRTN for ontologies           About GeneDecksing



NRTN Antibody Products: 
EMD Millipore Mono- and Polyclonal Antibodies for the study of NRTN
R&D Systems Antibodies for NRTN (Neurturin)
OriGene Antibodies for NRTN
OriGene Custom Antibody Services for NRTN
GenScript Custom Superior Antibodies Services for NRTN
Novus Biologicals NRTN Antibodies
Abcam antibodies for NRTN
Cloud-Clone Corp. Antibodies for NRTN 
ThermoFisher Antibodies for NRTN
LSBio Antibodies in human, mouse, rat for NRTN 

Assay Products for NRTN: 
Browse Kits and Assays available from EMD Millipore
OriGene Custom Assay Services for NRTN
Browse R&D Systems for biochemical assays
GenScript Custom Assay Services for NRTN
Browse Enzo Life Sciences for kits & assays
Cloud-Clone Corp. ELISAs for NRTN 
Cloud-Clone Corp. CLIAs for NRTN


(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section
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


NRTN for domains           About GeneDecksing


(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,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
About This Section

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 (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005102receptor binding TAS10829012
GO:0008083growth factor activity IEA--
     
NRTN for ontologies           About GeneDecksing


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 

NRTN for phenotypes           About GeneDecksing

Animal Models:
     MGI mouse knock-out Nrtntm1Jmi for NRTN

   inGenious Targeting Laboratory - Custom generated mouse model solutions for NRTN 
   inGenious Targeting Laboratory - Custom generated inducible mouse model solutions 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:
    
QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat NRTN
8/10 QIAGEN miScript miRNA 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:
    
Browse for Gene Knock-down Tools from EMD Millipore
OriGene RNAi products in human, mouse, rat for NRTN
QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat NRTN

Gene Editing
Products:
DNA2.0 Custom Protein Engineering Service for NRTN
Sirion Biotech Customized adenovirus for overexpression of NRTN

Clone
Products:
     
Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
OriGene clones in human, mouse for NRTN (see all 4)
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
Sirion Biotech Customized lentivirus for stable overexpression of NRTN 
                     Customized lentivirus expression plasmids for stable overexpression of NRTN 

Cell Line
Products:
     
GenScript Custom overexpressing Cell Line Services for NRTN
Search LifeMap BioReagents cell lines for NRTN
In Situ Assay
Products:
   

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NRTN


(Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
About This Section

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
2Axon guidance
Axon guidance0.69
Developmental Biology0.69
3NCAM signaling for neurite out-growth
NCAM signaling for neurite out-growth0.62
NCAM1 interactions0.62
4TGF-beta Signaling Pathway
TGF-beta Signaling Pathway

Pathways by source                                                                                                                                                                 See SuperPaths
Show all pathways

1 EMD Millipore Pathway for NRTN
    Development GDNF family signaling

1 Downloadable PowerPoint Slide of QIAGEN 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

4        Reactome Pathways for NRTN
    Developmental Biology
NCAM1 interactions
NCAM signaling for neurite out-growth
Axon guidance



NRTN for pathways           About GeneDecksing

Interactions:

    SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for NRTN

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

5/7 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): 5/7 biological process terms (GO ID links to tree view) (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--

NRTN for ontologies           About GeneDecksing



(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

NRTN for compounds           About GeneDecksing

Browse Small Molecules at EMD Millipore
Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for NRTN

10/11 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)

Search CenterWatch for drugs/clinical trials and news about NRTN

(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,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

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)
Congresses - knowledge worth sharing:  
European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

miRNA
Products:
     
QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat NRTN
8/10 QIAGEN miScript miRNA 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:
     
Browse for Gene Knock-down Tools from EMD Millipore
OriGene RNAi products in human, mouse, rat for NRTN
QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat NRTN
Clone
Products:
     
OriGene clones in human, mouse for NRTN (see all 4)
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
Sirion Biotech Customized lentivirus for stable overexpression of NRTN 
                     Customized lentivirus expression plasmids for stable overexpression of NRTN 
Primer
Products:
    
OriGene qPCR primer pairs and template standards for NRTN
OriGene qSTAR qPCR primer pairs in human, mouse for NRTN
SABiosciences RT2 qPCR Primer Assay in human, mouse, rat NRTN
  QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat NRTN
  QIAGEN 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:

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

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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

NRTN expression in normal human tissues (normalized intensities)      NRTN embryonic expression: see
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 
 5/13 selected tissues (see all 13) fully expand
 
 Brain (Nervous System)    fully expand to see all 14 entries
         Thalamus
         Septum   
 
 Skeletal Muscle (Muscoskeletal System)    fully expand to see all 4 entries
         Muscle Satellite Cells Lumbar Muscle Satellite Pool
 
 Neural Tube (Nervous System)    fully expand to see all 3 entries
         Telencephalon
 
 Gut Tube (Gastrointestinal Tract)    fully expand to see all 2 entries
         Foregut
         Definitive endoderm-like cells ( A scalable, suspension protocol for derivation of...
 
 Spinal Cord (Nervous System)    fully expand to see all 2 entries
         Ventral funiculus   

See NRTN Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for NRTN

SOURCE GeneReport for Unigene cluster: Hs.234775
    SABiosciences Expression via Pathway-Focused PCR Array including NRTN: 
          Growth Factors in human mouse rat

Primer
Products:
OriGene qPCR primer pairs and template standards for NRTN
OriGene qSTAR qPCR primer pairs in human, mouse for NRTN
SABiosciences RT2 qPCR Primer Assay in human, mouse, rat NRTN
QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat NRTN
QIAGEN 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)
About This Section

This gene was present in the common ancestor of chordates.

Orthologs for NRTN gene from 3/9 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 83.08(n)1
87.18(a)1
  17 (29.49 cM)5
181881  NM_008738.21  NP_032764.11 
 567513255 
chicken
(Gallus gallus)
Aves NRTN1 neurturin 64.92(n)
58.17(a)
  428340  NM_001081504.1  NP_001074973.1 
zebrafish
(Danio rerio)
Actinopterygii NRTN6
neurturin
29(a)
1 ↔ 1
11(6384592-6388773)


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)
About This Section
Paralogs for NRTN gene
GDNF2  PSPN2  ARTN2  
2 SIMAP similar genes for NRTN using alignment to 1 protein entry:     NRTN_HUMAN:
GDNF    PSPN

NRTN for paralogs           About GeneDecksing



(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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

10/181 SNPs in NRTN are shown (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
----------
VAR_0094984
----see VAR_0094982 A S mis40--------
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--------

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
SABiosciences Cancer Mutation 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, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section
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

  • 20/22 diseases for NRTN (see all 22):    About MalaCards
    nrtn-related hirschsprung disease    nephroblastoma    constipation    intestinal obstruction
    keratoconjunctivitis sicca    hirschsprung's disease    megacolon    keratoconjunctivitis
    huntington's disease    retinal degeneration    paraganglioma    parkinson's disease
    multiple endocrine neoplasia    colon adenocarcinoma    pheochromocytoma    retinitis
    lateral sclerosis    amyotrophic lateral sclerosis    neuroblastoma    neuronitis

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

    NRTN for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    10/11 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

    PubMed articles for NRTN gene, integrated from 9 sources (see all 150):
    (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. (1996)
    2. Mutation of the RET ligand, neurturin, supports multigenic inheritance in Hirschsprung disease. (PubMed id 9700200)1, 2, 9 Doray B.... Lyonnet S. (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. (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. (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. (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. (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. (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. (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. (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. (1997)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 4902 HGNC: 8007 AceView: NRTN Ensembl:ENSG00000171119 euGenes: HUgn4902
    ECgene: NRTN H-InvDB: NRTN

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for NRTN Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/NRTN

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for NRTN gene:
    Search GeneIP for patents involving NRTN

    GeneCards and IP:
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