ENSG00000171119


Homo sapiens

Features
Gene ID: ENSG00000171119
  
Biological name :NRTN
  
Synonyms : neurturin / NRTN / Q99748
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 19
Strand: 1
Band: p13.3
Gene start: 5823802
Gene end: 5828324
  
Corresponding Affymetrix probe sets: 210683_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000302648
NCBI entrez gene - 4902     See in Manteia.
OMIM - 602018
RefSeq - NM_004558
RefSeq - XM_011528041
RefSeq Peptide - NP_004549
swissprot - Q99748
Ensembl - ENSG00000171119
  
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 FO834855.1ENSDARG00000110877Danio rerio
 nrtnENSDARG00000079849Danio rerio
 NRTNENSGALG00000021647Gallus gallus
 NrtnENSMUSG00000039481Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
ARTN / Q5T4W7 / arteminENSG0000011740730
GDNF / P39905 / glial cell derived neurotrophic factorENSG0000016862129
PSPN / O60542 / persephinENSG0000012565026


Protein motifs (from Interpro)
Interpro ID Name
 IPR001839  Transforming growth factor-beta, C-terminal
 IPR029034  Cystine-knot cytokine


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000165 MAPK cascade TAS
 biological_processGO:0001755 neural crest cell migration IDA
 biological_processGO:0007169 transmembrane receptor protein tyrosine kinase signaling pathway IEA
 biological_processGO:0007399 nervous system development TAS
 biological_processGO:0007411 axon guidance TAS
 biological_processGO:0010469 regulation of signaling receptor activity IEA
 biological_processGO:0021675 nerve development IEA
 biological_processGO:0031175 neuron projection development IDA
 biological_processGO:0065009 regulation of molecular function IEA
 cellular_componentGO:0005576 extracellular region TAS
 cellular_componentGO:0005622 intracellular IEA
 cellular_componentGO:0030424 axon IEA
 molecular_functionGO:0005088 Ras guanyl-nucleotide exchange factor activity TAS
 molecular_functionGO:0005102 signaling receptor binding TAS
 molecular_functionGO:0008083 growth factor activity IEA


Pathways (from Reactome)
Pathway description
NCAM1 interactions
RAF/MAP kinase cascade
RET signaling


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000407 Hearing loss, sensorineural "Hearing loss caused by damage or dysfunction of the auditory nerve (cranial nerve VIII)." [HPO:curators]
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 HP:0001181 Adducted thumbs 
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 HP:0001249 Mental retardation 
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 HP:0001531 Failure to thrive in infancy 
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 HP:0001824 Weight loss 
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 HP:0002014 Diarrhea 
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 HP:0002017 Nausea and vomiting 
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 HP:0002019 Constipation 
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 HP:0002027 Abdominal pain 
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 HP:0002251 Congenital megacolon "An abnormality resulting from a lack of intestinal ganglion cells (i.e., an aganglionic section of bowel) that results in bowel obstruction with enlargement of the colon." [HPO:curators]
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 HP:0004322 Decreased body height "A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms)." [HPO:curators]
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 HP:0005214 Intestinal obstruction 
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 HP:0100031 Neoplasm of the thyroid gland "The presence of a `neoplasm` (MPATH:218) of the `thyroid gland` (FMA:9603)." [HPO:probinson]
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 HP:0100806 Sepsis 
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 HP:0200008 Multiple intestinal polyps 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000124181 PLCG1 / P19174 / phospholipase C gamma 1  / complex / reaction
 ENSG00000125650 PSPN / O60542 / persephin  / complex / reaction
 ENSG00000109458 GAB1 / Q13480 / GRB2 associated binding protein 1  / complex
 ENSG00000141738 GRB7 / Q14451 / growth factor receptor bound protein 7  / complex / reaction
 ENSG00000168546 GFRA2 / O00451 / GDNF family receptor alpha 2  / reaction / complex
 ENSG00000033327 GAB2 / Q9UQC2 / GRB2 associated binding protein 2  / complex
 ENSG00000166225 FRS2 / Q8WU20 / fibroblast growth factor receptor substrate 2  / reaction / complex
 ENSG00000076864 P47736 / RAP1GAP / RAP1 GTPase activating protein  / reaction / complex
 ENSG00000145675 P27986 / PIK3R1 / phosphoinositide-3-kinase regulatory subunit 1  / complex
 ENSG00000115904 SOS1 / Q07889 / SOS Ras/Rac guanine nucleotide exchange factor 1  / reaction / complex
 ENSG00000177885 GRB2 / P62993 / growth factor receptor bound protein 2  / reaction / complex
 ENSG00000146013 GFRA3 / O60609 / GDNF family receptor alpha 3  / reaction / complex
 ENSG00000051382 P42338 / PIK3CB / phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta  / complex
 ENSG00000121879 P42336 / PIK3CA / phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha  / complex
 ENSG00000168621 GDNF / P39905 / glial cell derived neurotrophic factor  / reaction / complex
 ENSG00000197122 SRC / P12931 / SRC proto-oncogene, non-receptor tyrosine kinase  / complex / reaction
 ENSG00000125861 GFRA4 / Q9GZZ7 / GDNF family receptor alpha 4  / reaction / complex
 ENSG00000171119 NRTN / Q99748 / neurturin  / complex / reaction
 ENSG00000117407 ARTN / Q5T4W7 / artemin  / reaction / complex
 ENSG00000179295 PTPN11 / Q06124 / protein tyrosine phosphatase, non-receptor type 11  / reaction / complex
 ENSG00000171608 O00329 / PIK3CD / phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta  / complex
 ENSG00000165731 RET / P07949 / ret proto-oncogene  / reaction / complex
 ENSG00000149294 NCAM1 / P13591 / neural cell adhesion molecule 1  / complex / reaction
 ENSG00000106070 GRB10 / Q13322 / growth factor receptor bound protein 10  / reaction / complex
 ENSG00000151892 GFRA1 / P56159 / GDNF family receptor alpha 1  / complex / reaction
 ENSG00000160691 SHC1 / P29353 / SHC adaptor protein 1  / complex / reaction






 

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