Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
4915
Gene name Gene Name - the full gene name approved by the HGNC.
Neurotrophic receptor tyrosine kinase 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
NTRK2
Synonyms (NCBI Gene) Gene synonyms aliases
DEE58, EIEE58, GP145-TrkB, OBHD, TRKB, trk-B
Chromosome Chromosome number
9
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
9q21.33
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a member of the neurotrophic tyrosine receptor kinase (NTRK) family. This kinase is a membrane-bound receptor that, upon neurotrophin binding, phosphorylates itself and members of the MAPK pathway. Signalling through this kinase leads to
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs121434633 A>G Pathogenic Coding sequence variant, missense variant, genic downstream transcript variant
rs886041091 A>G Pathogenic-likely-pathogenic, pathogenic Coding sequence variant, missense variant
rs1085308029 G>T Pathogenic Coding sequence variant, stop gained
rs1554774973 C>T Pathogenic Genic downstream transcript variant, coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT006434 hsa-miR-200c-3p Immunoblot, Luciferase reporter assay, qRT-PCR, Western blot 21501518
MIRT006434 hsa-miR-200c-3p Immunoblot, Luciferase reporter assay, qRT-PCR, Western blot 21501518
MIRT006434 hsa-miR-200c-3p Immunoblot, Luciferase reporter assay, qRT-PCR, Western blot 21501518
MIRT019226 hsa-miR-335-5p Microarray 18185580
MIRT053186 hsa-miR-204-5p Luciferase reporter assay, qRT-PCR, Western blot 22892391
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0001570 Process Vasculogenesis IEA
GO:0001764 Process Neuron migration IEA
GO:0001764 Process Neuron migration ISS
GO:0002020 Function Protease binding IPI 26094765
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
600456 8032 ENSG00000148053
Protein
UniProt ID Q16620
Protein name BDNF/NT-3 growth factors receptor (EC 2.7.10.1) (GP145-TrkB) (Trk-B) (Neurotrophic tyrosine kinase receptor type 2) (TrkB tyrosine kinase) (Tropomyosin-related kinase B)
Protein function Receptor tyrosine kinase involved in the development and the maturation of the central and the peripheral nervous systems through regulation of neuron survival, proliferation, migration, differentiation, and synapse formation and plasticity (By
PDB 1HCF , 1WWB , 2MFQ , 4ASZ , 4AT3 , 4AT4 , 4AT5 , 5MO9 , 8OYD
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01462 LRRNT 31 60 Leucine rich repeat N-terminal domain Family
PF13855 LRR_8 91 150 Leucine rich repeat Repeat
PF16920 TPKR_C2 151 195 Tyrosine-protein kinase receptor C2 Ig-like domain Domain
PF07679 I-set 197 283 Immunoglobulin I-set domain Domain
PF07679 I-set 298 377 Immunoglobulin I-set domain Domain
PF07714 PK_Tyr_Ser-Thr 538 807 Protein tyrosine and serine/threonine kinase Domain
Tissue specificity TISSUE SPECIFICITY: Isoform TrkB is expressed in the central and peripheral nervous system. In the central nervous system (CNS), expression is observed in the cerebral cortex, hippocampus, thalamus, choroid plexus, granular layer of the cerebellum, brain
Sequence
MSSWIRWHGPAMARLWGFCWLVVGFWRAAFACPTSCKCSASRIWCSDPSPGIVAFPRLEP
NSVDPENITEIFIANQKRLEIINEDDVEAYVGLRNLTIVDSGLKFVAHKAFLKNSNLQHI
NFTRNKLTSLSRKHFRHLDLSELILVGNPF
TCSCDIMWIKTLQEAKSSPDTQDLYCLNES
SKNIPLANLQIPNCG
LPSANLAAPNLTVEEGKSITLSCSVAGDPVPNMYWDVGNLVSKHM
NETSHTQGSLRITNISSDDSGKQISCVAENLVGEDQDSVNLTV
HFAPTITFLESPTSDHH
WCIPFTVKGNPKPALQWFYNGAILNESKYICTKIHVTNHTEYHGCLQLDNPTHMNNGDYT
LIAKNEYGKDEKQISAH
FMGWPGIDDGANPNYPDVIYEDYGTAANDIGDTTNRSNEIPST
DVTDKTGREHLSVYAVVVIASVVGFCLLVMLFLLKLARHSKFGMKGPASVISNDDDSASP
LHHISNGSNTPSSSEGGPDAVIIGMTKIPVIENPQYFGITNSQLKPDTFVQHIKRHNIVL
KRELGEGAFGKVFLAECYNLCPEQDKILVAVKTLKDASDNARKDFHREAELLTNLQHEHI
VKFYGVCVEGDPLIMVFEYMKHGDLNKFLRAHGPDAVLMAEGNPPTELTQSQMLHIAQQI
AAGMVYLASQHFVHRDLATRNCLVGENLLVKIGDFGMSRDVYSTDYYRVGGHTMLPIRWM
PPESIMYRKFTTESDVWSLGVVLWEIFTYGKQPWYQLSNNEVIECITQGRVLQRPRTCPQ
EVYELMLGCWQREPHMRKNIKGIHTLL
QNLAKASPVYLDILG
Sequence length 822
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  MAPK signaling pathway
Ras signaling pathway
Calcium signaling pathway
PI3K-Akt signaling pathway
Neurotrophin signaling pathway
Alcoholism
  Activated NTRK2 signals through PLCG1
Activated NTRK2 signals through FRS2 and FRS3
NTRK2 activates RAC1
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Developmental And Epileptic Encephalopathy Developmental and epileptic encephalopathy, 58 rs886041091 N/A
Obesity, Hyperphagia, And Developmental Delay obesity, hyperphagia, and developmental delay rs121434633, rs1085308029, rs1554774973 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Alzheimer disease Alzheimer's disease or family history of Alzheimer's disease N/A N/A GWAS
Androgenetic Alopecia Androgenetic alopecia N/A N/A GWAS
Colorectal Cancer Colorectal cancer N/A N/A GWAS
Diabetes Type 2 diabetes N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Abnormalities Drug Induced Associate 12121325, 32493978
Adenocarcinoma Associate 28081338, 33768710
Adenocarcinoma Clear Cell Associate 24815386
Adenocarcinoma in Situ Associate 33768710
Adenocarcinoma of Lung Associate 23656788, 33768710
AIDS Dementia Complex Associate 11471556
Alcoholism Associate 17200667
Alzheimer Disease Inhibit 16539663, 28888073
Alzheimer Disease Associate 17200667, 20655510, 20967212, 22788679, 28498887, 31349032, 34440432, 35226190, 36170028, 36830589, 38263132
Alzheimer Disease Stimulate 22710966