ENSG00000148053


Homo sapiens

Features
Gene ID: ENSG00000148053
  
Biological name :NTRK2
  
Synonyms : neurotrophic receptor tyrosine kinase 2 / NTRK2 / Q16620
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 9
Strand: 1
Band: q21.33
Gene start: 84668551
Gene end: 85027070
  
Corresponding Affymetrix probe sets: 207152_at (Human Genome U133 Plus 2.0 Array)   214680_at (Human Genome U133 Plus 2.0 Array)   221795_at (Human Genome U133 Plus 2.0 Array)   221796_at (Human Genome U133 Plus 2.0 Array)   229463_at (Human Genome U133 Plus 2.0 Array)   236095_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000365387
Ensembl peptide - ENSP00000365386
Ensembl peptide - ENSP00000379221
Ensembl peptide - ENSP00000277120
Ensembl peptide - ENSP00000306167
Ensembl peptide - ENSP00000314586
Ensembl peptide - ENSP00000352906
Ensembl peptide - ENSP00000365381
NCBI entrez gene - 4915     See in Manteia.
OMIM - 600456
RefSeq - XM_017014761
RefSeq - NM_001007097
RefSeq - NM_001018064
RefSeq - NM_001018065
RefSeq - NM_001018066
RefSeq - NM_001291937
RefSeq - NM_006180
RefSeq - XM_017014751
RefSeq - XM_017014752
RefSeq - XM_017014753
RefSeq - XM_017014754
RefSeq - XM_017014755
RefSeq - XM_017014756
RefSeq - XM_017014757
RefSeq - XM_017014758
RefSeq - XM_017014759
RefSeq - XM_017014760
RefSeq - XM_005252001
RefSeq - XM_005252003
RefSeq - XM_005252004
RefSeq - XM_005252006
RefSeq - XM_005252007
RefSeq - XM_011518718
RefSeq - XM_011518720
RefSeq Peptide - NP_001007098
RefSeq Peptide - NP_001018074
RefSeq Peptide - NP_001018075
RefSeq Peptide - NP_001018076
RefSeq Peptide - NP_001278866
RefSeq Peptide - NP_006171
swissprot - Q16620
swissprot - Q548C2
swissprot - Q5VWE5
swissprot - A0A024R230
Ensembl - ENSG00000148053
  
Related genetic diseases (OMIM): 613886 - Obesity, hyperphagia, and developmental delay, 613886
  617830 - Epileptic encephalopathy, early infantile, 58, 617830
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
 ntrk2aENSDARG00000059897Danio rerio
 ntrk2bENSDARG00000098511Danio rerio
 NTRK2ENSGALG00000012594Gallus gallus
 Ntrk2ENSMUSG00000055254Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
NTRK3 / Q16288 / neurotrophic receptor tyrosine kinase 3ENSG0000014053853
NTRK1 / P04629 / neurotrophic receptor tyrosine kinase 1ENSG0000019840047
MUSK / O15146 / muscle associated receptor tyrosine kinaseENSG0000003030427
DDR2 / Q16832 / discoidin domain receptor tyrosine kinase 2ENSG0000016273325
INSR / P06213 / insulin receptorENSG0000017110525
IGF1R / P08069 / insulin like growth factor 1 receptorENSG0000014044324
INSRR / P14616 / insulin receptor related receptorENSG0000002764423
ROS1 / P08922 / ROS proto-oncogene 1, receptor tyrosine kinaseENSG0000004793623
ROR2 / Q01974 / receptor tyrosine kinase like orphan receptor 2ENSG0000016907123
DDR1 / Q08345 / discoidin domain receptor tyrosine kinase 1ENSG0000020458023
ROR1 / Q01973 / receptor tyrosine kinase like orphan receptor 1ENSG0000018548322
ALK / Q9UM73 / ALK receptor tyrosine kinaseENSG0000017109421
PTK7 / Q13308 / protein tyrosine kinase 7 (inactive)ENSG0000011265518
LTK / P29376 / leukocyte receptor tyrosine kinaseENSG0000006252416


Protein motifs (from Interpro)
Interpro ID Name
 IPR000372  Leucine-rich repeat N-terminal domain
 IPR000483  Cysteine-rich flanking region, C-terminal
 IPR000719  Protein kinase domain
 IPR001245  Serine-threonine/tyrosine-protein kinase, catalytic domain
 IPR001611  Leucine-rich repeat
 IPR002011  Tyrosine-protein kinase, receptor class II, conserved site
 IPR003598  Immunoglobulin subtype 2
 IPR003599  Immunoglobulin subtype
 IPR007110  Immunoglobulin-like domain
 IPR008266  Tyrosine-protein kinase, active site
 IPR011009  Protein kinase-like domain superfamily
 IPR013098  Immunoglobulin I-set
 IPR013783  Immunoglobulin-like fold
 IPR017441  Protein kinase, ATP binding site
 IPR020455  Tyrosine-protein kinase, neurotrophic receptor, type 2
 IPR020635  Tyrosine-protein kinase, catalytic domain
 IPR020777  Tyrosine-protein kinase, neurotrophic receptor
 IPR031635  Tyrosine-protein kinase receptor NTRK, C2-Ig-like domain
 IPR032675  Leucine-rich repeat domain superfamily
 IPR036179  Immunoglobulin-like domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001570 vasculogenesis IEA
 biological_processGO:0001764 neuron migration ISS
 biological_processGO:0001934 positive regulation of protein phosphorylation TAS
 biological_processGO:0006468 protein phosphorylation IEA
 biological_processGO:0007169 transmembrane receptor protein tyrosine kinase signaling pathway IEA
 biological_processGO:0007275 multicellular organism development IEA
 biological_processGO:0007399 nervous system development IEA
 biological_processGO:0007528 neuromuscular junction development IEA
 biological_processGO:0007612 learning ISS
 biological_processGO:0007623 circadian rhythm IEA
 biological_processGO:0007631 feeding behavior IEA
 biological_processGO:0008284 positive regulation of cell proliferation ISS
 biological_processGO:0010628 positive regulation of gene expression ISS
 biological_processGO:0010976 positive regulation of neuron projection development ISS
 biological_processGO:0014047 glutamate secretion IEA
 biological_processGO:0014068 positive regulation of phosphatidylinositol 3-kinase signaling ISS
 biological_processGO:0016310 phosphorylation IEA
 biological_processGO:0018108 peptidyl-tyrosine phosphorylation IEA
 biological_processGO:0019222 regulation of metabolic process IEA
 biological_processGO:0021954 central nervous system neuron development ISS
 biological_processGO:0021987 cerebral cortex development ISS
 biological_processGO:0030154 cell differentiation IEA
 biological_processGO:0030182 neuron differentiation ISS
 biological_processGO:0031547 brain-derived neurotrophic factor receptor signaling pathway IMP
 biological_processGO:0033138 positive regulation of peptidyl-serine phosphorylation IEA
 biological_processGO:0038179 neurotrophin signaling pathway IEA
 biological_processGO:0042490 mechanoreceptor differentiation IEA
 biological_processGO:0043087 regulation of GTPase activity ISS
 biological_processGO:0043410 positive regulation of MAPK cascade ISS
 biological_processGO:0043524 negative regulation of neuron apoptotic process ISS
 biological_processGO:0046548 retinal rod cell development IEA
 biological_processGO:0046777 protein autophosphorylation ISS
 biological_processGO:0048709 oligodendrocyte differentiation IEA
 biological_processGO:0048935 peripheral nervous system neuron development IEA
 biological_processGO:0050772 positive regulation of axonogenesis ISS
 biological_processGO:0051896 regulation of protein kinase B signaling IEA
 biological_processGO:0051965 positive regulation of synapse assembly IEA
 biological_processGO:0060041 retina development in camera-type eye IEA
 biological_processGO:0060291 long-term synaptic potentiation IEA
 biological_processGO:0071230 cellular response to amino acid stimulus IEA
 biological_processGO:0099551 trans-synaptic signaling by neuropeptide, modulating synaptic transmission IEA
 biological_processGO:2000811 negative regulation of anoikis IEA
 cellular_componentGO:0005768 endosome IEA
 cellular_componentGO:0005769 early endosome ISS
 cellular_componentGO:0005829 cytosol IEA
 cellular_componentGO:0005886 plasma membrane IEA
 cellular_componentGO:0005887 integral component of plasma membrane IDA
 cellular_componentGO:0010008 endosome membrane IEA
 cellular_componentGO:0014069 postsynaptic density IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0031901 early endosome membrane IEA
 cellular_componentGO:0043195 terminal bouton IEA
 cellular_componentGO:0043235 receptor complex IDA
 cellular_componentGO:0045211 postsynaptic membrane IEA
 molecular_functionGO:0000166 nucleotide binding IEA
 molecular_functionGO:0004672 protein kinase activity IEA
 molecular_functionGO:0004713 protein tyrosine kinase activity IEA
 molecular_functionGO:0004714 transmembrane receptor protein tyrosine kinase activity IEA
 molecular_functionGO:0005030 neurotrophin receptor activity IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0005524 ATP binding IEA
 molecular_functionGO:0016301 kinase activity IEA
 molecular_functionGO:0016740 transferase activity IEA
 molecular_functionGO:0042803 protein homodimerization activity ISS
 molecular_functionGO:0043121 neurotrophin binding ISS
 molecular_functionGO:0048403 brain-derived neurotrophic factor binding ISS
 molecular_functionGO:0060175 brain-derived neurotrophic factor-activated receptor activity IMP


Pathways (from Reactome)
Pathway description
NGF-independant TRKA activation
BDNF activates NTRK2 (TRKB) signaling
NTF3 activates NTRK2 (TRKB) signaling
NTF4 activates NTRK2 (TRKB) signaling
Activated NTRK2 signals through RAS
Activated NTRK2 signals through PLCG1
Activated NTRK2 signals through PI3K
Activated NTRK2 signals through FRS2 and FRS3
Activated NTRK2 signals through FYN
NTRK2 activates RAC1
Activated NTRK2 signals through CDK5


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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 HP:0000324 Facial asymmetry 
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 HP:0000733 Stereotyped, repetitive behaviour 
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 HP:0001336 Myoclonus "Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements." [HPO:curators]
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 HP:0001513 Obesity "A status with BODY WEIGHT that is grossly above the acceptable or desirable weight, usually due to accumulation of excess FATS in the body. The standards may vary with age, sex, genetic or cultural background. In the BODY MASS INDEX, a BMI greater than 30.0 kg/m2 is considered obese, and a BMI greater than 40.0 kg/m2 is considered morbidly obese (MORBID OBESITY)." [MeSH:D009765]
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 HP:0002376 Developmental regression 
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 HP:0002521 Hypsarrhythmia "Hypsarrhythmia is abnormal interictal high amplitude waves and a background of irregular spikes demonstrated by electroencephalography (EEG)." [HPO:curators]
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 HP:0002591 Polyphagia 
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 HP:0011121 Abnormality of skin morphology "Any morphological abnormality of the `skin` (FMA:7163)." [HPO:probinson]
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 HP:0011344 Severe global developmental delay "A severe delay in the achievement of motor or mental milestones in the domains of development of a child." [DDD:hvfirth]
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 HP:0012469 Infantile spasms "Infantile spasms represent a subset of "epileptic spasms". Infantile Spasms are epileptic spasms starting in the first year of life (infancy)." [HPO:ihelbig]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000124181 PLCG1 / P19174 / phospholipase C gamma 1  / complex / reaction
 ENSG00000137218 FRS3 / O43559 / fibroblast growth factor receptor substrate 3  / complex / reaction
 ENSG00000121879 P42336 / PIK3CA / phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha  / complex
 ENSG00000078549 P41586 / ADCYAP1R1 / ADCYAP receptor type I  / complex / reaction
 ENSG00000156299 TIAM1 / Q13009 / T cell lymphoma invasion and metastasis 1  / complex / reaction
 ENSG00000141433 P18509 / ADCYAP1 / adenylate cyclase activating polypeptide 1  / complex / reaction
 ENSG00000010810 FYN / P06241 / FYN proto-oncogene, Src family tyrosine kinase  / complex / reaction
 ENSG00000088538 DOCK3 / Q8IZD9 / dedicator of cytokinesis 3  / complex
 ENSG00000109458 GAB1 / Q13480 / GRB2 associated binding protein 1  / complex
 ENSG00000176749 CDK5R1 / Q15078 / cyclin dependent kinase 5 regulatory subunit 1  / complex / reaction
 ENSG00000148053 NTRK2 / Q16620 / neurotrophic receptor tyrosine kinase 2  / complex / reaction
 ENSG00000164885 CDK5 / Q00535 / cyclin dependent kinase 5  / complex / reaction
 ENSG00000177885 GRB2 / P62993 / growth factor receptor bound protein 2  / complex / reaction
 ENSG00000185652 NTF3 / P20783 / neurotrophin 3  / complex / reaction
 ENSG00000176697 BDNF / P23560 / brain derived neurotrophic factor  / complex / reaction
 ENSG00000128271 P29274 / ADORA2A / adenosine A2a receptor  / complex / reaction
 ENSG00000179295 PTPN11 / Q06124 / protein tyrosine phosphatase, non-receptor type 11  / complex / reaction
 ENSG00000115904 SOS1 / Q07889 / SOS Ras/Rac guanine nucleotide exchange factor 1  / complex / reaction
 ENSG00000225950 NTF4 / P34130 / neurotrophin 4  / complex / reaction
 ENSG00000273079 GRIN2B / Q13224 / glutamate ionotropic receptor NMDA type subunit 2B  / complex
 ENSG00000145675 P27986 / PIK3R1 / phosphoinositide-3-kinase regulatory subunit 1  / complex
 ENSG00000197122 SRC / P12931 / SRC proto-oncogene, non-receptor tyrosine kinase  / reaction
 ENSG00000160691 SHC1 / P29353 / SHC adaptor protein 1  / complex / reaction
 ENSG00000166225 FRS2 / Q8WU20 / fibroblast growth factor receptor substrate 2  / complex / reaction






 

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