NRTN (neurturin)

Gene

• Entrez ID: 4902
• Gene name: Neurturin
• Gene symbol: NRTN
• Synonyms (NCBI Gene): NTN
• Chromosome: 19
• Chromosome location: 19p13.3
• 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 ki

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT022949	hsa-miR-124-3p	Microarray	18668037

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000165	Process	MAPK cascade	TAS	8945474
GO:0001755	Process	Neural crest cell migration	IDA	15242795
GO:0005102	Function	Signaling receptor binding	TAS	10829012
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IEA
GO:0005615	Component	Extracellular space	ISS
GO:0007169	Process	Cell surface receptor protein tyrosine kinase signaling pathway	IEA
GO:0007169	Process	Cell surface receptor protein tyrosine kinase signaling pathway	TAS	9286710
GO:0007399	Process	Nervous system development	IEA
GO:0007399	Process	Nervous system development	TAS	9286710
GO:0008083	Function	Growth factor activity	IBA
GO:0008083	Function	Growth factor activity	IDA	10829012, 29414779, 31535977
GO:0008083	Function	Growth factor activity	IEA
GO:0021675	Process	Nerve development	IEA
GO:0030116	Function	Glial cell-derived neurotrophic factor receptor binding	IEA
GO:0030971	Function	Receptor tyrosine kinase binding	IEA
GO:0031175	Process	Neuron projection development	IDA	15242795
GO:0035860	Process	Glial cell-derived neurotrophic factor receptor signaling pathway	IDA	29414779, 31535977
GO:0035860	Process	Glial cell-derived neurotrophic factor receptor signaling pathway	IEA
GO:0097696	Process	Cell surface receptor signaling pathway via STAT	IEA
GO:1904399	Function	Heparan sulfate binding	IDA	29414779

Other IDs

• MIM: 602018
• HGNC: 8007
• e!Ensembl: ENSG00000171119

Protein

• UniProt ID: Q99748
• Protein name: Neurturin
• Protein function: Growth factor that supports the survival of sympathetic neurons in culture (PubMed:8945474). May regulate the development and maintenance of the CNS (PubMed:8945474). Involved in the development of the neural crest (PubMed:15242795). Might contr
• PDB: 5MR4, 5MR5, 5MR9, 5NMZ, 6GL7, 6Q2O, 6Q2R
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00019	TGF_beta	102 → 196	Transforming growth factor beta like domain	Domain

• Sequence:

  MQRWKAAALASVLCSSVLSIWMCREGLLLSHRLGPALVPLHRLPRTLDARIARLAQYRAL
  LQGAPDAMELRELTPWAGRPPGPRRRAGPRRRRARARLGARPCGLRELEVRVSELGLGYA
  SDETVLFRYCAGACEAAARVYDLGLRRLRQRRRLRRERVRAQPCCRPTAYEDEVSFLDAH
  SRYHTVHELSARECACV

• Sequence length: 197

Pathways

KEGG:

MAPK signaling pathway
PI3K-Akt signaling pathway

Reactome:

RAF/MAP kinase cascade
RET signaling

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HIRSCHSPRUNG DISEASE	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NRTN-related disorder	Uncertain significance; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acoustic Neuroma	Acoustic Neuroma	BEFREE	19937367		★☆☆☆☆ Found in Text Mining only
Adrenal Gland Pheochromocytoma	Adrenal Gland Pheochromocytoma	BEFREE	10998441		★☆☆☆☆ Found in Text Mining only
Aganglionosis, Colonic	Colonic Aganglionosis	BEFREE	10946353, 11685702		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	39671698	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	37211171	Associate	★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	25358061		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	28369693		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	28369693		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Encephalitis	Encephalitis	BEFREE	29775745		★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung Disease	BEFREE	10946353, 11316186, 16618617, 21206993, 9700200		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hirschsprung disease	Hirschsprung Disease	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hirschsprung Disease	Hirschsprung disease	Pubtator	20459765	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hirschsprung Disease	Hirschsprung Disease	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperglycemia	Hyperglycemia	BEFREE	28408435		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intestinal Obstruction	Intestinal Obstruction	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intestinal Polyposis	Intestinal Polyposis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver cirrhosis	Pubtator	39252214	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	24067900		★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	25358061		★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement Disorders	BEFREE	26611606		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	12679485, 20970382, 24067900		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	22926166, 29414779		★☆☆☆☆ Found in Text Mining only
Neuropathy	Neuropathy	BEFREE	24067900		★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	24067900		★☆☆☆☆ Found in Text Mining only
Paraganglioma	Paraganglioma	BEFREE	10998441		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	17164776, 17336273, 17532642, 18267286, 18387850, 19349823, 20970382, 21322017, 22086235, 22834832, 22926166, 23228025, 23331189, 23390096, 23576625, 23724014, 26061140, 26176331, 26611606, 26616211, 26711317, 27425888, 27928963, 29176874, 29414779, 29959908, 30947516, 31678350		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	32203581, 33935108	Associate	★☆☆☆☆ Found in Text Mining only
Pheochromocytoma	Pheochromocytoma	BEFREE	10998441		★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	BEFREE	28825602		★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	HPO_DG			★☆☆☆☆ Found in Text Mining only