Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	4915
Gene name	Neurotrophic receptor tyrosine kinase 2
Gene symbol	NTRK2
Synonyms (NCBI Gene)	DEE58EIEE58GP145-TrkBOBHDTRKBtrk-B
Chromosome	9
Chromosome location	9q21.33
Summary	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

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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

168

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miRTarBase ID	miRNA	Experiments	Reference
MIRT006434	hsa-miR-200c-3p	ImmunoblotLuciferase reporter assayqRT-PCRWestern blot	21501518
MIRT006434	hsa-miR-200c-3p	ImmunoblotLuciferase reporter assayqRT-PCRWestern blot	21501518
MIRT006434	hsa-miR-200c-3p	ImmunoblotLuciferase reporter assayqRT-PCRWestern blot	21501518
MIRT019226	hsa-miR-335-5p	Microarray	18185580
MIRT053186	hsa-miR-204-5p	Luciferase reporter assayqRT-PCRWestern blot	22892391
MIRT006434	hsa-miR-200c-3p	ImmunoblotImmunofluorescenceqRT-PCR	23209748
MIRT053186	hsa-miR-204-5p	Luciferase reporter assayqRT-PCRWestern blot	24321270
MIRT053186	hsa-miR-204-5p	Luciferase reporter assayqRT-PCRWestern blot	24321270
MIRT053186	hsa-miR-204-5p	Luciferase reporter assayqRT-PCRWestern blot	24321270
MIRT053186	hsa-miR-204-5p	Luciferase reporter assayqRT-PCRWestern blot	24321270
MIRT445027	hsa-miR-581	PAR-CLIP	22100165
MIRT445028	hsa-miR-145-3p	PAR-CLIP	22100165
MIRT445027	hsa-miR-581	PAR-CLIP	22100165
MIRT445028	hsa-miR-145-3p	PAR-CLIP	22100165
MIRT736477	hsa-miR-128-3p	qRT-PCR	33174052
MIRT737263	hsa-miR-140-3p	Luciferase reporter assayWestern blottingImmunoprecipitaion (IP)qRT-PCRFlow cytometry	32653032
MIRT445027	hsa-miR-581	PAR-CLIP	22100165
MIRT445028	hsa-miR-145-3p	PAR-CLIP	22100165
MIRT445027	hsa-miR-581	PAR-CLIP	22100165
MIRT445028	hsa-miR-145-3p	PAR-CLIP	22100165
MIRT1196215	hsa-miR-1208	CLIP-seq
MIRT1196216	hsa-miR-1237	CLIP-seq
MIRT1196217	hsa-miR-1248	CLIP-seq
MIRT1196218	hsa-miR-1254	CLIP-seq
MIRT1196219	hsa-miR-1273c	CLIP-seq
MIRT1196220	hsa-miR-149	CLIP-seq
MIRT1196221	hsa-miR-2053	CLIP-seq
MIRT1196222	hsa-miR-24	CLIP-seq
MIRT1196223	hsa-miR-3116	CLIP-seq
MIRT1196224	hsa-miR-3121-5p	CLIP-seq
MIRT1196225	hsa-miR-3152-3p	CLIP-seq
MIRT1196226	hsa-miR-3176	CLIP-seq
MIRT1196227	hsa-miR-326	CLIP-seq
MIRT1196228	hsa-miR-330-5p	CLIP-seq
MIRT1196229	hsa-miR-3662	CLIP-seq
MIRT1196230	hsa-miR-3683	CLIP-seq
MIRT1196231	hsa-miR-3922-3p	CLIP-seq
MIRT1196232	hsa-miR-4284	CLIP-seq
MIRT1196233	hsa-miR-4452	CLIP-seq
MIRT1196234	hsa-miR-4494	CLIP-seq
MIRT1196235	hsa-miR-452	CLIP-seq
MIRT1196236	hsa-miR-4659a-5p	CLIP-seq
MIRT1196237	hsa-miR-4659b-5p	CLIP-seq
MIRT1196238	hsa-miR-4676-3p	CLIP-seq
MIRT1196239	hsa-miR-4701-5p	CLIP-seq
MIRT1196240	hsa-miR-4776-3p	CLIP-seq
MIRT1196241	hsa-miR-499a-5p	CLIP-seq
MIRT1196242	hsa-miR-513a-3p	CLIP-seq
MIRT1196243	hsa-miR-513a-5p	CLIP-seq
MIRT1196244	hsa-miR-513c	CLIP-seq
MIRT1196245	hsa-miR-514b-5p	CLIP-seq
MIRT1196246	hsa-miR-541	CLIP-seq
MIRT1196247	hsa-miR-548b-3p	CLIP-seq
MIRT1196248	hsa-miR-548c-3p	CLIP-seq
MIRT1196249	hsa-miR-588	CLIP-seq
MIRT1196250	hsa-miR-593	CLIP-seq
MIRT1196251	hsa-miR-602	CLIP-seq
MIRT1196252	hsa-miR-654-5p	CLIP-seq
MIRT1196253	hsa-miR-661	CLIP-seq
MIRT1196254	hsa-miR-892a	CLIP-seq
MIRT1196255	hsa-miR-1226	CLIP-seq
MIRT1196256	hsa-miR-1305	CLIP-seq
MIRT1196257	hsa-miR-3199	CLIP-seq
MIRT1196258	hsa-miR-4513	CLIP-seq
MIRT1196259	hsa-miR-4670-3p	CLIP-seq
MIRT1196260	hsa-miR-4740-5p	CLIP-seq
MIRT1196261	hsa-miR-103a	CLIP-seq
MIRT1196262	hsa-miR-107	CLIP-seq
MIRT1196263	hsa-miR-130a	CLIP-seq
MIRT1196264	hsa-miR-130b	CLIP-seq
MIRT1196265	hsa-miR-148a	CLIP-seq
MIRT1196266	hsa-miR-148b	CLIP-seq
MIRT1196267	hsa-miR-152	CLIP-seq
MIRT1196268	hsa-miR-1825	CLIP-seq
MIRT1196269	hsa-miR-1915	CLIP-seq
MIRT1196270	hsa-miR-301a	CLIP-seq
MIRT1196271	hsa-miR-301b	CLIP-seq
MIRT1196272	hsa-miR-3187-3p	CLIP-seq
MIRT1196273	hsa-miR-329	CLIP-seq
MIRT1196274	hsa-miR-3612	CLIP-seq
MIRT1196275	hsa-miR-362-3p	CLIP-seq
MIRT1196276	hsa-miR-3666	CLIP-seq
MIRT1196277	hsa-miR-3672	CLIP-seq
MIRT1196278	hsa-miR-3685	CLIP-seq
MIRT1196279	hsa-miR-3941	CLIP-seq
MIRT1196280	hsa-miR-3944-5p	CLIP-seq
MIRT1196281	hsa-miR-4252	CLIP-seq
MIRT1196282	hsa-miR-4257	CLIP-seq
MIRT1196283	hsa-miR-4270	CLIP-seq
MIRT1196284	hsa-miR-4295	CLIP-seq
MIRT1196285	hsa-miR-4435	CLIP-seq
MIRT1196286	hsa-miR-4441	CLIP-seq
MIRT1196287	hsa-miR-4443	CLIP-seq
MIRT1196288	hsa-miR-454	CLIP-seq
MIRT1196289	hsa-miR-4661-5p	CLIP-seq
MIRT1196239	hsa-miR-4701-5p	CLIP-seq
MIRT1196290	hsa-miR-4726-3p	CLIP-seq
MIRT1196291	hsa-miR-4763-5p	CLIP-seq
MIRT1196292	hsa-miR-4786-5p	CLIP-seq
MIRT1196293	hsa-miR-502-5p	CLIP-seq
MIRT1196294	hsa-miR-548s	CLIP-seq
MIRT1196295	hsa-miR-563	CLIP-seq
MIRT1196249	hsa-miR-588	CLIP-seq
MIRT1196296	hsa-miR-603	CLIP-seq
MIRT1196297	hsa-miR-650	CLIP-seq
MIRT1196298	hsa-miR-769-5p	CLIP-seq
MIRT1196299	hsa-miR-890	CLIP-seq
MIRT1551903	hsa-miR-22	CLIP-seq
MIRT1551904	hsa-miR-3607-5p	CLIP-seq
MIRT1551905	hsa-miR-3665	CLIP-seq
MIRT1551906	hsa-miR-590-3p	CLIP-seq
MIRT1551907	hsa-miR-657	CLIP-seq
MIRT2056951	hsa-miR-1266	CLIP-seq
MIRT2056952	hsa-miR-1294	CLIP-seq
MIRT2056953	hsa-miR-204	CLIP-seq
MIRT2056954	hsa-miR-211	CLIP-seq
MIRT2056955	hsa-miR-4290	CLIP-seq
MIRT2056956	hsa-miR-4446-5p	CLIP-seq
MIRT2056957	hsa-miR-4518	CLIP-seq
MIRT2056958	hsa-miR-4710	CLIP-seq
MIRT2056959	hsa-miR-4755-5p	CLIP-seq
MIRT2056960	hsa-miR-623	CLIP-seq
MIRT2056961	hsa-miR-760	CLIP-seq
MIRT2285380	hsa-miR-199a-3p	CLIP-seq
MIRT2285381	hsa-miR-199b-3p	CLIP-seq
MIRT2285382	hsa-miR-217	CLIP-seq
MIRT2285383	hsa-miR-3129-5p	CLIP-seq
MIRT2285384	hsa-miR-4418	CLIP-seq
MIRT2285385	hsa-miR-4470	CLIP-seq
MIRT2285386	hsa-miR-4684-5p	CLIP-seq
MIRT2285387	hsa-miR-4786-3p	CLIP-seq
MIRT2285388	hsa-miR-509-3-5p	CLIP-seq
MIRT2285389	hsa-miR-509-5p	CLIP-seq
MIRT1196246	hsa-miR-541	CLIP-seq
MIRT1196252	hsa-miR-654-5p	CLIP-seq
MIRT2285390	hsa-miR-671-5p	CLIP-seq
MIRT2439095	hsa-miR-3194-3p	CLIP-seq
MIRT1551904	hsa-miR-3607-5p	CLIP-seq
MIRT2439096	hsa-miR-4650-5p	CLIP-seq
MIRT2455510	hsa-miR-1276	CLIP-seq
MIRT2455511	hsa-miR-185	CLIP-seq
MIRT2455512	hsa-miR-29a	CLIP-seq
MIRT2455513	hsa-miR-29b	CLIP-seq
MIRT2455514	hsa-miR-29c	CLIP-seq
MIRT2455515	hsa-miR-3150b-3p	CLIP-seq
MIRT2455516	hsa-miR-320a	CLIP-seq
MIRT2455517	hsa-miR-320b	CLIP-seq
MIRT2455518	hsa-miR-320c	CLIP-seq
MIRT2455519	hsa-miR-320d	CLIP-seq
MIRT2455520	hsa-miR-3937	CLIP-seq
MIRT2455521	hsa-miR-3942-3p	CLIP-seq
MIRT2455522	hsa-miR-4277	CLIP-seq
MIRT2455523	hsa-miR-4306	CLIP-seq
MIRT2455524	hsa-miR-4311	CLIP-seq
MIRT2455525	hsa-miR-4429	CLIP-seq
MIRT2455526	hsa-miR-4644	CLIP-seq
MIRT2455527	hsa-miR-4784	CLIP-seq
MIRT2455528	hsa-miR-583	CLIP-seq
MIRT2455529	hsa-miR-621	CLIP-seq
MIRT2455530	hsa-miR-658	CLIP-seq
MIRT2455531	hsa-miR-759	CLIP-seq
MIRT2455511	hsa-miR-185	CLIP-seq
MIRT2455515	hsa-miR-3150b-3p	CLIP-seq
MIRT2455523	hsa-miR-4306	CLIP-seq
MIRT2455526	hsa-miR-4644	CLIP-seq
MIRT2455527	hsa-miR-4784	CLIP-seq
MIRT2583500	hsa-miR-3647-3p	CLIP-seq
MIRT2583501	hsa-miR-4282	CLIP-seq

101

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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
GO:0004672	Function	Protein kinase activity	IEA
GO:0004713	Function	Protein tyrosine kinase activity	IEA
GO:0004714	Function	Transmembrane receptor protein tyrosine kinase activity	IEA
GO:0005030	Function	Neurotrophin receptor activity	IEA
GO:0005515	Function	Protein binding	IPI	17341134, 24658140, 31980649, 35384245, 35512704, 35840571
GO:0005524	Function	ATP binding	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005768	Component	Endosome	IEA
GO:0005769	Component	Early endosome	IEA
GO:0005769	Component	Early endosome	ISS
GO:0005829	Component	Cytosol	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	15494731
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0007169	Process	Cell surface receptor protein tyrosine kinase signaling pathway	IBA
GO:0007169	Process	Cell surface receptor protein tyrosine kinase signaling pathway	IEA
GO:0007399	Process	Nervous system development	IEA
GO:0007612	Process	Learning	IEA
GO:0007612	Process	Learning	ISS
GO:0007623	Process	Circadian rhythm	IEA
GO:0007631	Process	Feeding behavior	IEA
GO:0008284	Process	Positive regulation of cell population proliferation	ISS
GO:0010008	Component	Endosome membrane	IEA
GO:0010628	Process	Positive regulation of gene expression	IEA
GO:0010628	Process	Positive regulation of gene expression	ISS
GO:0010976	Process	Positive regulation of neuron projection development	IBA
GO:0010976	Process	Positive regulation of neuron projection development	IEA
GO:0010976	Process	Positive regulation of neuron projection development	ISS
GO:0014047	Process	Glutamate secretion	IEA
GO:0014069	Component	Postsynaptic density	IBA
GO:0014069	Component	Postsynaptic density	IEA
GO:0014069	Component	Postsynaptic density	ISS
GO:0016020	Component	Membrane	IEA
GO:0016301	Function	Kinase activity	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0019222	Process	Regulation of metabolic process	IEA
GO:0019227	Process	Neuronal action potential propagation	IEA
GO:0021954	Process	Central nervous system neuron development	IEA
GO:0021954	Process	Central nervous system neuron development	ISS
GO:0021987	Process	Cerebral cortex development	IEA
GO:0021987	Process	Cerebral cortex development	ISS
GO:0022011	Process	Myelination in peripheral nervous system	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0030182	Process	Neuron differentiation	IEA
GO:0030182	Process	Neuron differentiation	ISS
GO:0030424	Component	Axon	IBA
GO:0030424	Component	Axon	IEA
GO:0030424	Component	Axon	ISS
GO:0030425	Component	Dendrite	IEA
GO:0030425	Component	Dendrite	ISS
GO:0031547	Process	Brain-derived neurotrophic factor receptor signaling pathway	IEA
GO:0031547	Process	Brain-derived neurotrophic factor receptor signaling pathway	IMP	15494731
GO:0031547	Process	Brain-derived neurotrophic factor receptor signaling pathway	TAS	19036963
GO:0031901	Component	Early endosome membrane	IEA
GO:0038179	Process	Neurotrophin signaling pathway	IEA
GO:0042490	Process	Mechanoreceptor differentiation	IEA
GO:0042803	Function	Protein homodimerization activity	ISS
GO:0042995	Component	Cell projection	IEA
GO:0043087	Process	Regulation of GTPase activity	ISS
GO:0043121	Function	Neurotrophin binding	IDA	11738045
GO:0043121	Function	Neurotrophin binding	IEA
GO:0043121	Function	Neurotrophin binding	ISS
GO:0043195	Component	Terminal bouton	IEA
GO:0043197	Component	Dendritic spine	IBA
GO:0043235	Component	Receptor complex	IBA
GO:0043235	Component	Receptor complex	IDA	23382219
GO:0043410	Process	Positive regulation of MAPK cascade	ISS
GO:0043524	Process	Negative regulation of neuron apoptotic process	ISS
GO:0043679	Component	Axon terminus	IBA
GO:0045202	Component	Synapse	IEA
GO:0046548	Process	Retinal rod cell development	IEA
GO:0046777	Process	Protein autophosphorylation	ISS
GO:0048403	Function	Brain-derived neurotrophic factor binding	IBA
GO:0048403	Function	Brain-derived neurotrophic factor binding	IEA
GO:0048403	Function	Brain-derived neurotrophic factor binding	ISS
GO:0048471	Component	Perinuclear region of cytoplasm	IEA
GO:0048471	Component	Perinuclear region of cytoplasm	ISS
GO:0048709	Process	Oligodendrocyte differentiation	IEA
GO:0048935	Process	Peripheral nervous system neuron development	IEA
GO:0050772	Process	Positive regulation of axonogenesis	ISS
GO:0051896	Process	Regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IEA
GO:0051897	Process	Positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IBA
GO:0051897	Process	Positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	ISS
GO:0051897	Process	Positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	TAS	19036963
GO:0051965	Process	Positive regulation of synapse assembly	IEA
GO:0060041	Process	Retina development in camera-type eye	IEA
GO:0060175	Function	Brain-derived neurotrophic factor receptor activity	IBA
GO:0060175	Function	Brain-derived neurotrophic factor receptor activity	IEA
GO:0060175	Function	Brain-derived neurotrophic factor receptor activity	IMP	15494731
GO:0060291	Process	Long-term synaptic potentiation	IEA
GO:0071230	Process	Cellular response to amino acid stimulus	IEA
GO:0099183	Process	Trans-synaptic signaling by BDNF, modulating synaptic transmission	IEA
GO:1902430	Process	Negative regulation of amyloid-beta formation	IGI	26094765
GO:1990416	Process	Cellular response to brain-derived neurotrophic factor stimulus	IBA
GO:2000811	Process	Negative regulation of anoikis	IEA

MIM	HGNC	e!Ensembl
600456	8032	ENSG00000148053

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
NFTRNKLTSLSRKHFRHLDLSELILVGNPFTCSCDIMWIKTLQEAKSSPDTQDLYCLNES
SKNIPLANLQIPNCGLPSANLAAPNLTVEEGKSITLSCSVAGDPVPNMYWDVGNLVSKHM
NETSHTQGSLRITNISSDDSGKQISCVAENLVGEDQDSVNLTVHFAPTITFLESPTSDHH
WCIPFTVKGNPKPALQWFYNGAILNESKYICTKIHVTNHTEYHGCLQLDNPTHMNNGDYT
LIAKNEYGKDEKQISAHFMGWPGIDDGANPNYPDVIYEDYGTAANDIGDTTNRSNEIPST
DVTDKTGREHLSVYAVVVIASVVGFCLLVMLFLLKLARHSKFGMKGPASVISNDDDSASP
LHHISNGSNTPSSSEGGPDAVIIGMTKIPVIENPQYFGITNSQLKPDTFVQHIKRHNIVL
KRELGEGAFGKVFLAECYNLCPEQDKILVAVKTLKDASDNARKDFHREAELLTNLQHEHI
VKFYGVCVEGDPLIMVFEYMKHGDLNKFLRAHGPDAVLMAEGNPPTELTQSQMLHIAQQI
AAGMVYLASQHFVHRDLATRNCLVGENLLVKIGDFGMSRDVYSTDYYRVGGHTMLPIRWM
PPESIMYRKFTTESDVWSLGVVLWEIFTYGKQPWYQLSNNEVIECITQGRVLQRPRTCPQ
EVYELMLGCWQREPHMRKNIKGIHTLLQNLAKASPVYLDILG

Sequence length

822

Interactions

View interactions

	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

228

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Developmental and epileptic encephalopathy, 58	Likely pathogenic; Pathogenic	rs886041091, rs2078136352, rs142393662	RCV000577864 RCV005623113 RCV004799452
Obesity, hyperphagia, and developmental delay	Pathogenic; Likely pathogenic	rs121434633, rs2078136352, rs1085308029, rs1554774973, rs142393662	RCV000009698 RCV003994794 RCV000490246 RCV000577832 RCV004799452

Show/Hide Unknown Diseases (9)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Autism spectrum disorder	Conflicting classifications of pathogenicity; Likely benign; Uncertain significance	rs370304899, rs2491732320, rs1564492351	RCV003126260 RCV003127250 RCV003127468
Developmental disorder	Conflicting classifications of pathogenicity; Uncertain significance	rs201902834, rs1229434307	RCV001843770 RCV001843774
Early onset severe obesity	Uncertain significance	rs200636057	RCV006442818
Intellectual disability	Uncertain significance	rs200564196	RCV005626514
Neoplasm	Uncertain significance	rs903676836	RCV004671445
Neuroblastoma	other	rs201362502	RCV000505546
NTRK2-related disorder	Likely benign; Benign; Conflicting classifications of pathogenicity; Uncertain significance	rs150692457, rs76950094, rs139913267, rs149433995, rs772111782, rs145968424, rs760215602, rs758729728, rs1373336521, rs201902834, rs201002337, rs1167335341, rs147652140, rs973334596, rs137873897 View all (123 more)	RCV003973251 RCV003908748 RCV003940922 RCV003941111 RCV004746443 RCV003913398 RCV004746457 RCV004746459 RCV004746460 RCV004746461 RCV003892950 RCV004746591 RCV004746507 RCV004746508 RCV004746477 RCV004746554 RCV004746538 RCV004746478 RCV004746539 RCV003948806 RCV004746484 RCV003426248 RCV004746473 RCV004746587 RCV003426234 RCV004746498 RCV004746489 RCV004746584 RCV004746500 RCV004746527 RCV004746566 RCV003893235 RCV003893136 RCV004747050 RCV003933639 RCV003951026 RCV003403709 RCV003960938 RCV003968862 RCV004747057 RCV003950878 RCV004747034 RCV003968738 RCV003951031 RCV003903379 RCV003911170 RCV004747066 RCV003971037 RCV004746605 RCV003933650 RCV004746597 RCV003971049 RCV004747067 RCV004746598 RCV003978660 RCV003971176 RCV003911181 RCV004747064 RCV004746606 RCV003933417 RCV003895837 RCV004747056 RCV003893106 RCV003893145 RCV003958725 RCV003970984 RCV003941265 RCV003960947 RCV004747073 RCV003896117 RCV003943733 RCV004747201 RCV004747204 RCV003410100 RCV003898877 RCV003954044 RCV003903721 RCV004747087 RCV004747085 RCV003943455 RCV003936277 RCV004747098 RCV004747101 RCV004747099 RCV004725346 RCV004747107 RCV003898469 RCV004747112 RCV004747114 RCV004747115 RCV004747113 RCV003403886 RCV003961111 RCV004747124 RCV003961137 RCV003961253 RCV004747179 RCV004747180 RCV003900984 RCV003982987 RCV004723276 RCV003408670 RCV003394459 RCV003391254 RCV003422513 RCV003414183 RCV004747327 RCV004747330 RCV004747332 RCV004723429 RCV004747342 RCV003909137 RCV004747380 RCV004747377 RCV003909165 RCV003984443 RCV003893545 RCV004747401 RCV003899179 RCV003899682 RCV003919436 RCV003951552 RCV003947144 RCV003956792 RCV003957242 RCV004747409 RCV004747410 RCV004747411 RCV003915386 RCV003918227 RCV003978322 RCV003983246 RCV004726732 RCV003940774 RCV003910821 RCV003970504 RCV004746159 RCV004746151 RCV004746166 RCV003918591 RCV004746280
Obesity	Uncertain significance	rs777251032	RCV000754970
See cases	Uncertain significance	rs771612427, rs1823993486	RCV002252872 RCV002287767

Show/Hide Text Mining Associations (194)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
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
Antisocial Personality Disorder	Associate	17200667
Arthritis Rheumatoid	Associate	7559588
Ascites	Associate	18201274
Asthenozoospermia	Associate	33746583
Asthma	Associate	28599074, 36033826, 37649101
Astrocytoma	Associate	36271929, 39357189
Autistic Disorder	Associate	20662941, 37583270, 38263132
Bipolar Disorder	Associate	19488044, 23315174, 24802307, 33875800
Bipolar Disorder	Inhibit	21223646, 21612826
Blood Platelet Disorders	Associate	34546355
Bone Diseases	Associate	27458153
Brain Neoplasms	Associate	35905534
Breast Neoplasms	Associate	23185507, 23209748, 26657794, 28205449, 28604807, 31638237, 34290315, 35383130, 39232183, 39340251
Breast Neoplasms	Stimulate	35905534
Bruxism	Associate	34610834
Bulimia Nervosa	Associate	24831852
Calcinosis Cutis	Associate	29683819
Carcinogenesis	Associate	39412903
Carcinoma	Associate	35900506, 36229858
Carcinoma Adenoid Cystic	Associate	21552290
Carcinoma Hepatocellular	Associate	21999199, 27456333, 27821810, 31730575
Carcinoma Hepatocellular	Stimulate	37749450
Carcinoma Lobular	Associate	27078887
Carcinoma Non Small Cell Lung	Associate	27456333, 28081338, 29748024, 33294440, 36256645
Carcinoma Ovarian Epithelial	Stimulate	18201274
Carcinoma Pancreatic Ductal	Associate	27456333
Carcinoma Squamous Cell	Associate	21466358, 28081338, 28604655
Carcinoma Verrucous	Associate	39412903
Central Nervous System Neoplasms	Associate	35295612
Choriocarcinoma	Associate	21831423
Cognition Disorders	Associate	28888073, 36455873, 38139046
Cognitive Dysfunction	Inhibit	28888073
Colonic Neoplasms	Associate	28714374
Colorectal Neoplasms	Associate	22842573, 25926053, 28591715, 29045518, 32627883, 33028922, 37686416
Congenital Hereditary and Neonatal Diseases and Abnormalities	Associate	32493978
Coronary Artery Disease	Associate	33666096
Craniosynostoses	Associate	27884935
Dementia	Associate	31349032
Depressive Disorder	Associate	24047966, 26641254, 28752602, 34613587, 36634823
Depressive Disorder Major	Associate	20386568
Depressive Disorder Major	Inhibit	21223646
Depressive Disorder Major	Stimulate	25027171
Developmental Disabilities	Associate	34425480, 37583270, 39540377
Diabetes Mellitus	Associate	36997916
Diarrhea 5 With Tufting Enteropathy Congenital	Associate	39412903
Diffuse Neurofibrillary Tangles with Calcification	Associate	28888073, 31349032
Disorders of Excessive Somnolence	Associate	16787984
Down Syndrome	Associate	37583270
Drug Related Side Effects and Adverse Reactions	Associate	22276165
Dysplastic Nevus Syndrome	Associate	12121325
Endometrial Neoplasms	Associate	35300713, 37686416
Endometriosis	Associate	27519317, 35300713, 37164275
Epilepsy	Associate	39540377
Epilepsy Familial Mesial Temporal Lobe	Associate	25027171
Epilepsy Temporal Lobe	Associate	20228460
Epileptic Encephalopathy Early Infantile 3	Associate	34425480
Facial Dysmorphism with Multiple Malformations	Associate	37583270
Fatigue	Associate	28205449
Feeding and Eating Disorders	Associate	39540377
Fibrosarcoma	Associate	33850302
Fibrosis	Associate	28938915
Gallbladder Neoplasms	Associate	40527859
Ganglioglioma	Associate	26810070
Ganglioneuroblastoma	Associate	8264643
Gastrointestinal Stromal Tumors	Associate	25239601, 38191907
Giant Cell Arteritis	Associate	25418464
Glaucoma	Associate	19765683, 32985274
Glaucoma Open Angle	Associate	20806036
Glioblastoma	Associate	24601786, 30936198, 34041811, 34341009, 35295612, 36194351
Glioma	Associate	30066929, 30171197, 30936198, 32238360, 32665022, 33749791, 33820494, 37349135, 37503880
Granuloma	Associate	21059230
Heart Diseases	Inhibit	20655510
Heart Diseases	Associate	28888073
Hematologic Diseases	Associate	36033826
Hemolytic Uremic Syndrome	Associate	36033826
Hereditary leiomyomatosis and renal cell cancer	Associate	15677564
Hodgkin Disease	Associate	15677564
Huntington Disease	Associate	18093249
Hyperkinesis	Associate	32493978
Hyperphagia	Associate	34571524, 39540377
Hypothalamic hamartomas	Associate	25307426
Hypoxia	Stimulate	26192455
Hypoxia	Associate	38188159
Hypoxia Brain	Stimulate	31941116
Hypoxia Brain	Associate	38188159
Idiopathic Pulmonary Fibrosis	Associate	28938915
Infarction Middle Cerebral Artery	Stimulate	36916413
Inflammation	Inhibit	38263132
Intellectual Disability	Associate	39540377
Laryngeal Diseases	Associate	31221127
Laryngeal Neoplasms	Associate	36033826
Learning Disabilities	Associate	32493978
Leiomyosarcoma	Stimulate	22911740
Leukemia Lymphocytic Chronic B Cell	Associate	32724091
Leukemia Lymphoma Adult T Cell	Stimulate	25210182
Leukemia Mast Cell	Associate	9292513
Leukemia Myelogenous Chronic BCR ABL Positive	Associate	38436167
Leukemic Infiltration	Associate	27519317
Liver Diseases	Associate	25418464
Lung Diseases	Associate	24959744
Lung Neoplasms	Associate	21466358, 23656788, 24959744, 27456333, 33963267, 36033826
Lymphatic Metastasis	Associate	20156366
Lymphatic Metastasis	Stimulate	28604655, 35905534
Malformations of Cortical Development	Associate	12121325
Malignant mesenchymal tumor	Associate	33850302
Melanoma	Associate	29683819
Memory Disorders	Associate	32493978
Meningococcal Infections	Associate	36033826
Mental Disorders	Associate	20193039, 38263132
Microcephaly	Associate	34425480, 37583270
Microsatellite Instability	Associate	32627883
Mood Disorders	Associate	21223646, 21612826, 23277131, 24802307, 28752602
Movement Disorders	Associate	34425480, 37583270
Multiple Myeloma	Associate	27246973, 36565997
Multiple Sclerosis	Associate	20656764
Multiple Trauma	Associate	27246973
Muscle Hypotonia	Associate	37583270, 39540377
Muscular Atrophy Spinal	Associate	36607273
Neoplasm Invasiveness	Associate	29898774, 36266462
Neoplasm Metastasis	Associate	20156366, 24959744, 26657794, 27456333, 27458153, 29748024, 29898774, 33294440, 36266462
Neoplasm Metastasis	Stimulate	37749450
Neoplasms	Associate	15654083, 17971243, 19696931, 20193039, 21128244, 21501518, 21552290, 21990266, 21999199, 23285024, 24853179, 24959744, 25210182, 26342562, 26563355 View all (42 more)
Neoplasms	Stimulate	37749450
Neoplasms Adipose Tissue	Associate	16787984
Neoplasms Germ Cell and Embryonal	Associate	15654083
Neoplasms Neuroepithelial	Associate	26810070
Neuroblastoma	Associate	10347207, 10550322, 10769746, 12808116, 15024057, 15654083, 16150056, 21128244, 21419569, 21484309, 21590687, 21990266, 23385535, 23422506, 24477561 View all (10 more)
Neurodegenerative Diseases	Associate	22659797, 33833366, 36170028, 38263132
Neurologic Manifestations	Associate	33643311, 38263132
Nevus Epithelioid and Spindle Cell	Associate	37856952
Obesity	Associate	20193039, 26727462, 28012455, 28677406, 32493978, 34571524, 36997916, 37329217, 39540377
Obesity Maternal	Associate	28012455
Optic Nerve Hypoplasia	Associate	34425480
Osteoarthritis	Stimulate	34494934
Osteolysis	Associate	27458153
Osteoporosis	Associate	38484114
Osteosarcoma	Associate	24067459
Ovarian Diseases	Associate	16815388, 35300713
Ovarian Neoplasms	Associate	18201274, 24815386, 31298409
Pancreatic Neoplasms	Associate	30064387
Parkinson Disease	Associate	26253177, 36634823
Parkinsonian Disorders	Stimulate	39412903
Parotid Neoplasms	Associate	36266462
Peritonitis	Associate	23175149
Personality Disorders	Associate	37749450
Pituitary Neoplasms	Associate	22507324
Plaque Amyloid	Associate	28888073, 31349032
Pleural Effusion Malignant	Associate	23656788
Pre Eclampsia	Stimulate	21831423
Prostatic Neoplasms	Associate	11442674, 27456333
Psychological Distress	Associate	26445699
Psychotic Disorders	Stimulate	25027171
Reperfusion Injury	Associate	38188159
Salivary Gland Neoplasms	Associate	33878706
Sarcoma	Associate	22911740, 37865792
Sarcoma Ewing	Associate	27145455
Schizophrenia	Associate	20100784, 24802307, 38263132
Schizophrenia	Inhibit	21223646
Seizures	Associate	25027171, 34425480
Sleep Deprivation	Associate	29059151
Sleep Wake Disorders	Associate	28205449
Small Cell Lung Carcinoma	Associate	29748024
Soft Tissue Neoplasms	Associate	32506523, 37865792
Solitary Fibrous Tumors	Associate	37865792
Spasm	Associate	37583270
Spasms Infantile	Associate	34425480, 37583270
Spherocytosis Type 1	Stimulate	20228460
Squamous Cell Carcinoma of Head and Neck	Associate	22276165, 30641914, 38489902, 39412903
Status Asthmaticus	Associate	28522569
Stomach Neoplasms	Inhibit	12854135
Stomach Neoplasms	Associate	23175149, 24853179, 27458153, 27662840, 35008821
Stress Disorders Post Traumatic	Associate	32894097
Stroke	Associate	26641254
Substance Related Disorders	Associate	17200667, 21711518
Thyroid Cancer Papillary	Associate	37236546
Thyroiditis Autoimmune	Inhibit	33600668
Triple Negative Breast Neoplasms	Associate	23185507, 34290315
Triple Negative Breast Neoplasms	Stimulate	26657794
Tuberous Sclerosis	Associate	11583980
Uterine Cervical Neoplasms	Associate	29989647
Vascular Diseases	Associate	26192455
Vision Disorders	Associate	39540377
Weight Gain	Associate	32493978
Wilms Tumor	Associate	19696931

NTRK2 (neurotrophic receptor tyrosine kinase 2)