NTRK2 Chromosome 9
Neurotrophic receptor tyrosine kinase 2
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What This Gene Does
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 cell differentiation. Mutations in this gene have been associated with obesity and mood disorders. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]
Gene Info
Gene Group
"Receptor tyrosine kinases|I-set domain containing"
Locus Type
gene with protein product
Location
9q21.33
Ensembl
ENSG00000148053
Associated Conditions (9)
Obesity
hyperphagia
and developmental delay
NTRK2-related disorder
Developmental disorder
Inborn genetic diseases
Developmental and epileptic encephalopathy
58
Autism spectrum disorder
Key Variants
RS1169880026
Conflicting classifications of pathogenicity
Obesity, hyperphagia, and developmental delay
Health Risk
RS117250170
Conflicting classifications of pathogenicity
Health Risk
RS1217234880
Conflicting classifications of pathogenicity
NTRK2-related disorder, NTRK2-related disorder
Health Risk
RS1229434307
Conflicting classifications of pathogenicity
Developmental disorder, Developmental disorder
Health Risk
RS1373336521
Conflicting classifications of pathogenicity
Inborn genetic diseases, Developmental and epileptic encephalopathy, 58
Health Risk
RS145968424
Conflicting classifications of pathogenicity
NTRK2-related disorder, NTRK2-related disorder
Health Risk
RS1823997308
Conflicting classifications of pathogenicity
Obesity, hyperphagia, and developmental delay
Health Risk
RS200595566
Conflicting classifications of pathogenicity
NTRK2-related disorder, NTRK2-related disorder
Health Risk
RS200900730
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS201024551
Conflicting classifications of pathogenicity
Health Risk
RS201773066
Conflicting classifications of pathogenicity
Health Risk
RS201902834
Conflicting classifications of pathogenicity
Developmental disorder, Inborn genetic diseases, NTRK2-related disorder
Health Risk
All Variants (34)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1169880026 | Health Risk | Conflicting classifications of pathogenicity | Obesity, hyperphagia, and developmental delay |
| RS117250170 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1217234880 | Health Risk | Conflicting classifications of pathogenicity | NTRK2-related disorder, NTRK2-related disorder |
| RS1229434307 | Health Risk | Conflicting classifications of pathogenicity | Developmental disorder, Developmental disorder |
| RS1373336521 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Developmental and epileptic encephalopathy, 58 |
| RS145968424 | Health Risk | Conflicting classifications of pathogenicity | NTRK2-related disorder, NTRK2-related disorder |
| RS1823997308 | Health Risk | Conflicting classifications of pathogenicity | Obesity, hyperphagia, and developmental delay |
| RS200595566 | Health Risk | Conflicting classifications of pathogenicity | NTRK2-related disorder, NTRK2-related disorder |
| RS200900730 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS201024551 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS201773066 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS201902834 | Health Risk | Conflicting classifications of pathogenicity | Developmental disorder, Inborn genetic diseases, NTRK2-related disorder |
| RS2132718410 | Health Risk | Conflicting classifications of pathogenicity | Obesity, hyperphagia, and developmental delay |
| RS2132979269 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS2132979778 | Health Risk | Conflicting classifications of pathogenicity | Obesity, hyperphagia, and developmental delay |
| RS370304899 | Health Risk | Conflicting classifications of pathogenicity | Autism spectrum disorder, Autism spectrum disorder |
| RS563972840 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS746147656 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS772111782 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, NTRK2-related disorder, Inborn genetic diseases |
| RS781137734 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS78936193 | Health Risk | Conflicting classifications of pathogenicity | NTRK2-related disorder, NTRK2-related disorder |
| RS949522665 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS142393662 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 58, Obesity |
| RS2078136352 | Health Risk | Likely pathogenic | Obesity, hyperphagia, and developmental delay |
| RS2131695386 | Health Risk | Likely pathogenic | — |
| RS2132880685 | Health Risk | Likely pathogenic | — |
| RS2490205385 | Health Risk | Likely pathogenic | — |
| RS756500934 | Health Risk | Likely pathogenic | — |
| RS1085308029 | Health Risk | Pathogenic | Obesity, hyperphagia, and developmental delay |
| RS121434633 | Health Risk | Pathogenic | Obesity, hyperphagia, and developmental delay |
| RS1554774973 | Health Risk | Pathogenic | Obesity, hyperphagia, and developmental delay |
| RS2492229638 | Health Risk | Pathogenic | — |
| RS747571706 | Health Risk | Pathogenic | — |
| RS886041091 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy, 58, Inborn genetic diseases |