NRTN neurturin [Homo sapiens (human)] - Gene

Summary

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: mouse all
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Genomic context

Location:: 19p13.3

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (5805067..5828324)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (5792545..5815815)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (5805078..5828335)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
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.
Human neurturin protected crayfish neurons and glia from photodynamic injury.
Title: Protection effect of GDNF and neurturin on photosensitized crayfish neurons and glial cells.
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.
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.
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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Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Aganglionic megacolon MedGen: C0019569 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
Genomics meets glycomics-the first GWAS study of human N-Glycome identifies HNF1&#x003b1; as a master regulator of plasma protein fucosylation. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:486725

NoName (e-PCR)
- UniSTS:481130

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
is_active_in extracellular space	ISS Inferred from Sequence or Structural Similarity 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

NG_008202.1 RefSeqGene

Range

4996..9518

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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