Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
4902
Gene name Gene Name - the full gene name approved by the HGNC.
Neurturin
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
NRTN
Synonyms (NCBI Gene) Gene synonyms aliases
NTN
Chromosome Chromosome number
19
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
19p13.3
Summary Summary of gene provided in NCBI Entrez Gene.
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.
miRTarBase ID miRNA Experiments Reference
MIRT022949 hsa-miR-124-3p Microarray 18668037
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000165 Process MAPK cascade TAS
GO:0001755 Process Neural crest cell migration IDA 15242795
GO:0005102 Function Signaling receptor binding TAS 10829012
GO:0005576 Component Extracellular region TAS
GO:0007169 Process Transmembrane receptor protein tyrosine kinase signaling pathway IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
602018 8007 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
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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Hearing loss Sensorineural Hearing Loss (disorder) rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359
View all (184 more)
Hirschsprung disease Hirschsprung Disease, Hirschsprung disease rs76262710, rs75996173, rs77316810, rs75076352, rs76534745, rs76764689, rs76449634, rs377767412, rs193922699, rs75030001, rs606231342, rs1553540620, rs759944122, rs1057519322, rs1057519323
View all (4 more)
Mental retardation Intellectual Disability rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315
View all (1024 more)
Unknown
Disease term Disease name Evidence References Source
Alzheimer disease Alzheimer disease GWAS
Associations from Text Mining
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