NRTN - neurturin Gene

Also Known as NTN

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 4902

About NRTN

Cytogenetic location: 19p13.3 Genomic coordinates (GRCh38): 19:5,805,067-5,828,324 (from NCBI)

This gene has 1 transcript (splice variant), 208 orthologues, 3 paralogues and is associated with 1 phenotype. Broad expression in kidney (RPKM 1.6), heart (RPKM 1.4) and 18 other tissues.

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]

NRTN Products (1)

mRNA	Protein	Name
NM_004558.5	NP_004549.1	neurturin preproprotein

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	Références	Source
enables growth factor activity	IDA IDA: Inferred from direct assay	10829012	GOA
enables heparan sulfate binding	IDA IDA: Inferred from direct assay	29414779	GOA

Biological Process GO Annotation	Evidence	Références	Source
involved in glial cell-derived neurotrophic factor receptor signaling pathway	IDA IDA: Inferred from direct assay	29414779	GOA
acts upstream of or within neural crest cell migration	IDA IDA: Inferred from direct assay	15242795	GOA
acts upstream of or within neuron projection development	IDA IDA: Inferred from direct assay	15242795	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

NRTN Protein Structure

TGF_beta

0
100
197 a.a.

Protein Preferred Names	Protein Names
neurturin	prepro-neurturin

Recombinant NRTN Proteins

Cat. No.	Nom du produit	Accession	Pureté
HY-P71155	Neurturin Protein, Human	Q99748 (A96-V197)	≥ 95%, as determined by reducing SDS-PAGE.
HY-P700142AF	Animal-Free Neurturin Protein, Human (His)	Q99748 (A96-V197)	≥ 95%, as determined by reducing SDS-PAGE.

Related Diseases

Diseases	Alias
Hirschsprung Disease 1	Hirschsprung Disease Aganglionic Megacolon Hscr Hirschsprung'S Disease Congenital Megacolon Congenital Intestinal Aganglionosis Colonic Aganglionosis Hirschsprung Disease, Susceptibility To, 1 Hirschsprung Disease, Protection Against HSCR1 Mgc Pelvirectal Achalasia Total Intestinal Aganglionosis Megacolon, Aganglionic Macrocolon Hscr 1 Hirschsprung Disease Type 1 Hirschsprung Disease, Type 1 Congenital Dilatation Of Colon Aganglionosis Congenital Aganglionic Megacolon Aganglionosis Of Colon Bowel Aganglionosis Colon Aganglionosis Hirschsprung Megacolon
Megacolon	Dilatation Of Colon
Intestinal Obstruction	Inspissated Milk Syndrome Milk Curd Syndrome
Parkinson Disease 8, Autosomal Dominant	Parkinson Disease 8 Autosomal Dominant Parkinson Disease 8 PARK8 Parkinson'S Disease 8 Autosomal Dominant Parkinson'S Disease 8 Parkinson Disease-8 Parkinson Disease, Type 8, Autosomal Dominant
Parkinson Disease, Late-Onset	Parkinson Disease Parkinson'S Disease PD PARK Parkinson Disease, Susceptibility To Late Onset Parkinson'S Disease Late Onset Parkinson Disease Paralysis Agitans Primary Parkinsonism Idiopathic Parkinson Disease Parkinson'S Parkinson Disease, Late-Onset, Susceptibility To Parkinson Disease, Age Of Onset, Modifier Lewy Body Parkinson Disease Idiopathic Parkinson'S Disease Pd - [Parkinson Disease] Parkinson Disease Nos Parkinson, Nos Primary Parkinson Disease
Retinal Degeneration	Degeneration Of Retina
Multiple Endocrine Neoplasia, Type Iib	Multiple Endocrine Neoplasia Type 2b MEN2B Wagenmann-Froboese Syndrome Multiple Endocrine Neoplasia Iib Mucosal Neuroma Syndrome Multiple Endocrine Neoplasia, Type 3 Multiple Endocrine Neoplasia, Type 2b Men Iib Neuromata, Mucosal, With Endocrine Tumors Multiple Endocrine Neoplasia, Type Iii, Formerly Men3, Formerly Men Type Iib Men 2b Multiple Endocrine Neoplasia Type 3 Multiple Neoplasia 2b Neoplasia, Endocrine, Multiple, Type Iib
Constipation
Movement Disease	Movement Disorders Movement Disorder
Aromatic L-Amino Acid Decarboxylase Deficiency	Aadc Deficiency Dopa Decarboxylase Deficiency Ddc Deficiency Aromatic Amino Acid Decarboxylase Deficiency Deficiency Of Aromatic-L-Amino-Acid Decarboxylase AADCD Aromatic-L-Amino-Acid Decarboxylase Deficiency Aromatic L-Amino-Acid Decarboxylase Deficiency
Thyroid Gland Cancer	Thyroid Gland Carcinoma Malignant Neoplasm Of Thyroid Gland Malignant Tumour Of Thyroid Gland Thyroid Neoplasm Thyroid Neoplasms Neoplasm Of Thyroid Gland Thyroid Gland Neoplasm Head And Neck Cancer, Thyroid Neoplasm Of The Thyroid Gland Cancer Of The Thyroid Primary Malignant Neoplasm Of Thyroglossal Duct Malignant Neoplasm Of Thyroglossal Duct Primary Malignant Neoplasm Of Thyroid Gland Thyroglossal Duct Cancer Toxic Goitre Malignant Tumour Cancerous Goitre
Thyroid Carcinoma, Familial Medullary	Medullary Thyroid Carcinoma Familial Medullary Thyroid Carcinoma MTC Medullary Thyroid Cancer Fmtc Mtc1 Thyroid Cancer, Medullary Thyroid Carcinoma, Medullary Familial Mtc Thyroid Carcinoma Medullary Carcinoma, Thyroid, Medullary, Familial Medullary Carcinoma Of Thyroid Medullary Carcinoma With Amyloid Stroma, Unspecified Site Medullary Carcinoma With Amyloid Stroma Of Thyroid
Canavan Disease	Aspartoacylase Deficiency Aminoacylase 2 Deficiency Spongy Degeneration Of Central Nervous System Aspa Deficiency Acy2 Deficiency Canavan-Van Bogaert-Bertrand Disease Mild Canavan Disease Asp Deficiency Spongy Degeneration Of The Central Nervous System Severe Canavan Disease Von Bogaert-Bertrand Disease Canavan'S Disease Spongy Degeneration Of The Brain Juvenile Canavan Disease Infantile Canavan Disease Neonatal Canavan Disease CAND Disease, Canavan Canavan Disease, Juvenile Canavan Disease, Infantile Canavan Disease, Neonatal
Congenital Central Hypoventilation Syndrome	Cchs Haddad Syndrome Ondine Curse Ondine Syndrome Congenital Central Hypoventilation Congenital Central Alveolar Hypoventilation Syndrome Congenital Failure Of Autonomic Control Ondine'S Curse Primary Alveolar Hypoventilation Ondine-Hirschsprung Disease Central Congenital Hypoventilation Syndrome Congenital Ondine Curse Idiopathic Congenital Central Alveolar Hypoventilation Congenital Central Alveolar Hypoventilation-Hirschsprung Disease Syndrome Ondine-Hirschsprung Syndrome
Huntington Disease	Huntington'S Disease Huntington Chorea Huntington'S Chorea HD Huntington Chronic Progressive Hereditary Chorea Juvenile Huntington Disease Chronic Progressive Chorea Chronic Progressive Hereditary Chorea Hc - [Huntington Chorea] Hereditary Chorea Progressive Hereditary Chorea

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Nom du produit	Effect	Pureté	Rare Diseases
HY-RS09582	NRTN Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS18488	Nrtn Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS24970	Nrtn Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	NRTN	MGD	MGI:108417
Felis catus	NRTN	VGNC	VGNC:102648
Rattus norvegicus	NRTN	RGD	RGD:621494
Canis familiaris	NRTN	VGNC	VGNC:43978
Bos taurus	NRTN	VGNC	VGNC:32270
Others	NRTN	NCBI