NRTN
entrez
4902
canonical
uniprot
Q99748
canonical
ensembl
ENSG00000171119
resolver
ensp
ENSP00000302648
resolver
ensp
ENSP00000549211
resolver
ensp
ENSP00000606139
resolver
ensp
ENSP00000606140
resolver
ensp
ENSP00000623181
resolver
ensp
ENSP00000623182
resolver
enst
ENST00000303212
resolver
enst
ENST00000879152
resolver
enst
ENST00000936080
resolver
enst
ENST00000936081
resolver
enst
ENST00000953122
resolver
enst
ENST00000953123
resolver
genesymbol
NRTN
resolver
hgnc
HGNC:8007
resolver
uniprot
B2RPE8
resolver
uniprot_entry
NRTN_HUMAN
resolver
uniprot_sec
B2RPE8
resolver
amino_acid_sequence
MQRWKAAALASVLCSSVLSIWMCREGLLLSHRLGPALVPLHRLPRTLDARIARLAQYRALLQGAPDAMELRELTPWAGRPPGPRRRAGPRRRRARARLGARPCGLRELEVRVSELGLGYASDETVLFRYCAGACEAAARVYDLGLRRLRQRRRLRRERVRAQPCCRPTAYEDEVSFLDAHSRYHTVHELSARECACV
uniprot
proteins
disease_involvement
DISEASE: Note=Genetic variations in NRTN may contribute to Hirschsprung disease, in association with mutations of RET gene, and possibly mutations in other loci. Hirschsprung disease is a disorder of neural crest development is characterized by the absence of intramural ganglion cells in the hindgut, often resulting in intestinal obstruction. {ECO:0000269|PubMed:9700200}.
uniprot
proteins
function
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 control the size of non-neuronal cell population such as haemopoietic cells (PubMed:8945474). Acts by binding to its coreceptor, GFRA2, leading to autophosphorylation and activation of the RET receptor (PubMed:10829012, PubMed:29414779, PubMed:31535977). Heparan sulfate-binding is required for signaling (PubMed:29414779). {ECO:0000269|PubMed:10829012, ECO:0000269|PubMed:15242795, ECO:0000269|PubMed:29414779, ECO:0000269|PubMed:31535977, ECO:0000269|PubMed:8945474}.
uniprot
proteins
mass_dalton
22405
uniprot
proteins
mutagenesis
MUTAGEN 158..162; /note="RVRAQ->AVAAA: Strongly decreased binding to heparan sulfate."; /evidence="ECO:0000269|PubMed:29414779
uniprot
proteins
protein_family
GDNF subfamily
uniprot
proteins
protein_family
TGF-beta family
uniprot
proteins
pubmed
10829012
uniprot
proteins
pubmed
15242795
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
29414779
uniprot
proteins
pubmed
31535977
uniprot
proteins
pubmed
8945474
uniprot
proteins
pubmed
9700200
uniprot
proteins
sequence_length
197
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Secreted {ECO:0000250|UniProtKB:P97463}.
uniprot
proteins