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NRTN neurturin [ Homo sapiens (human) ]

Gene ID: 4902, updated on 13-Apr-2024

Summary

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Official Symbol
NRTNprovided by HGNC
Official Full Name
neurturinprovided by HGNC
Primary source
HGNC:HGNC:8007
See related
Ensembl:ENSG00000171119 MIM:602018; AllianceGenome:HGNC:8007
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
NTN
Summary
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]
Expression
Broad expression in kidney (RPKM 1.6), heart (RPKM 1.4) and 18 other tissues See more
Orthologs
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Genomic context

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See NRTN in Genome Data Viewer
Location:
19p13.3
Exon count:
3
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (5805067..5828324)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (5792545..5815815)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (5805078..5828335)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene proline rich 22 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13816 Neighboring gene dihydrouridine synthase 3 like Neighboring gene Sharpr-MPRA regulatory region 11822 Neighboring gene Sharpr-MPRA regulatory region 2060 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:5827746-5828434 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9936 Neighboring gene fucosyltransferase 6 Neighboring gene uncharacterized LOC101928844 Neighboring gene fucosyltransferase 3 (Lewis blood group) Neighboring gene ReSE screen-validated silencer GRCh37_chr19:5855126-5855513

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Refolding and purification of cGMP-grade recombinant human neurturin from Escherichia coli inclusion bodies. Xi G, et al. Protein Expr Purif, 2020 Apr. PMID 31866372
  2. Structure and biophysical characterization of the human full-length neurturin-GFRa2 complex: A role for heparan sulfate in signaling. Sandmark J, et al. J Biol Chem, 2018 Apr 13. PMID 29414779, Free PMC Article
  3. The neurotrophic factor neurturin contributes toward an aggressive cancer cell phenotype, neuropathic pain and neuronal plasticity in pancreatic cancer. Wang K, et al. Carcinogenesis, 2014 Jan. PMID 24067900
  4. Protection effect of GDNF and neurturin on photosensitized crayfish neurons and glial cells. Uzdensky A, et al. J Mol Neurosci, 2013 Mar. PMID 22847529
  5. Glial cell-line derived neurotrophic factor and neurturin regulate the expressions of distinct miRNA precursors through the activation of GFRalpha2. Yoong LF, et al. J Neurochem, 2006 Aug. PMID 16895582

See all (28) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. TANGO1 interacts with NRTN to promote hepatocellular carcinoma progression by regulating the PI3K/AKT/mTOR signaling pathway.
    Title: TANGO1 interacts with NRTN to promote hepatocellular carcinoma progression by regulating the PI3K/AKT/mTOR signaling pathway.
  2. Refolding and purification of cGMP-grade recombinant human neurturin from Escherichia coli inclusion bodies.
    Title: Refolding and purification of cGMP-grade recombinant human neurturin from Escherichia coli inclusion bodies.
  3. We have reconstituted the complete extracellular region of the RET signaling complex together with Neurturin (NRTN) and GFRalpha2 and determined its structure at 5.7-A resolution by cryo-EM. The proteins form an assembly through RET-GFRalpha2 and RET-NRTN interfaces.
    Title: Cryo-EM structure of the activated RET signaling complex reveals the importance of its cysteine-rich domain.
  4. biophysical results show that the relative concentration of GFRa2 on cell surfaces can affect the functional affinity of NRTN through avidity effects.
    Title: Structure and biophysical characterization of the human full-length neurturin-GFRa2 complex: A role for heparan sulfate in signaling.
  5. In the cochlea, NTN immunostaining was found in the supporting cells of organ of Corti, including Deiters' cells, Hensen cells as well as Claudius' cells. In the spiral ganglia, NTN was seen in both the cell bodies and the nerve fibers of neurons.
    Title: Immunohistological analysis of neurturin and its receptors in human cochlea.
  6. Neurturin contributes toward an aggressive cancer cell phenotype, neuropathic pain and neuronal plasticity in pancreatic cancer.
    Title: The neurotrophic factor neurturin contributes toward an aggressive cancer cell phenotype, neuropathic pain and neuronal plasticity in pancreatic cancer.
  7. Human neurturin protected crayfish neurons and glia from photodynamic injury.
    Title: Protection effect of GDNF and neurturin on photosensitized crayfish neurons and glial cells.
  8. Cyclic AMP signalling through PKA but not Epac is essential for neurturin-induced biphasic ERK1/2 activation and neurite outgrowths through GFRalpha2 isoforms.
    Title: Cyclic AMP signalling through PKA but not Epac is essential for neurturin-induced biphasic ERK1/2 activation and neurite outgrowths through GFRα2 isoforms.
  9. No differences were found in the allelic frequencies of the variants or in the haplotype distribution between Hirschsprung's disease patients & controls, nor to any demographic/clinical parameters within the group of patients.
    Title: Polymorphisms in the genes encoding the 4 RET ligands, GDNF, NTN, ARTN, PSPN, and susceptibility to Hirschsprung disease.
  10. Observational study of gene-disease association. (HuGE Navigator)
    Title: Polymorphisms in the genes encoding the 4 RET ligands, GDNF, NTN, ARTN, PSPN, and susceptibility to Hirschsprung disease.
Submit: New GeneRIF Correction See all GeneRIFs (17)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Aganglionic megacolon
MedGen: C0019569 GeneReviews: Not available
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EBI GWAS Catalog

Description
Genomics meets glycomics-the first GWAS study of human N-Glycome identifies HNF1α as a master regulator of plasma protein fucosylation.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables glial cell-derived neurotrophic factor receptor binding IEA
Inferred from Electronic Annotation
more info
  
enables growth factor activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables growth factor activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables heparan sulfate binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables receptor tyrosine kinase binding IEA
Inferred from Electronic Annotation
more info
  
enables signaling receptor binding TAS
Traceable Author Statement
more info
 PubMed 
Process Evidence Code Pubs
involved_in MAPK cascade TAS
Traceable Author Statement
more info
 PubMed 
involved_in cell surface receptor protein tyrosine kinase signaling pathway TAS
Traceable Author Statement
more info
 PubMed 
involved_in glial cell-derived neurotrophic factor receptor signaling pathway IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in nerve development IEA
Inferred from Electronic Annotation
more info
  
involved_in nervous system development TAS
Traceable Author Statement
more info
 PubMed 
acts_upstream_of_or_within neural crest cell migration IDA
Inferred from Direct Assay
more info
 PubMed 
acts_upstream_of_or_within neuron projection development IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
located_in axon IEA
Inferred from Electronic Annotation
more info
  
located_in extracellular region TAS
Traceable Author Statement
more info
  
located_in extracellular space IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
neurturin
Names
prepro-neurturin

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_008202.1 RefSeqGene

    Range
    4996..9518
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_004558.5 → NP_004549.1  neurturin preproprotein

    See identical proteins and their annotated locations for NP_004549.1

    Status: REVIEWED

    Source sequence(s)
    AC011499, AC024592
    Consensus CDS
    CCDS12151.1
    UniProtKB/Swiss-Prot
    B2RPE8, Q99748
    Related
    ENSP00000302648.1, ENST00000303212.3
    Conserved Domains (1) summary
    cd19383
    Location:103 → 197
    TGF_beta_Neurturin; transforming growth factor beta (TGF-beta) like domain found in Neurturin and similar proteins

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

    Range
    5805067..5828324
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047438890.1 → XP_047294846.1  neurturin isoform X1

    UniProtKB/Swiss-Prot
    B2RPE8, Q99748

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_025791810.1 Reference GRCh38.p14 PATCHES

    Range
    1335..1925
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    5792545..5815815
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054321120.1 → XP_054177095.1  neurturin isoform X1

    UniProtKB/Swiss-Prot
    B2RPE8, Q99748
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q99748.1 GenPept UniProtKB/Swiss-Prot:Q99748

Gene LinkOut

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