Gene Gene information from NCBI Gene database.
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 miRNA information provided by mirtarbase database.
1
miRTarBase ID miRNA Experiments Reference
MIRT022949 hsa-miR-124-3p Microarray 18668037
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
22
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
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
602018 8007 ENSG00000171119
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
SRYHTVHELSARECAC
V
Sequence length 197
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  MAPK signaling pathway
PI3K-Akt signaling pathway
  RAF/MAP kinase cascade
RET signaling
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
2
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
NRTN-related disorder Uncertain significance; Likely benign rs375707068, rs922519870 RCV003397016
RCV003946897
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Breast Neoplasms Associate 39671698
Carcinoma Hepatocellular Associate 37211171
Hirschsprung Disease Associate 20459765
Inflammation Associate 40133606
Liver Cirrhosis Associate 39252214
Neoplasm Metastasis Associate 39671698
Neoplasms Associate 39671698
Pain Associate 25358061
Parkinson Disease Associate 32203581, 33935108