What is the official name of the NTRK2 gene?
The official name of this gene is “neurotrophic tyrosine kinase, receptor, type 2.”
NTRK2 is the gene's official symbol. The NTRK2 gene is also known by other names, listed below.
Read more about gene names and symbols on the About page.
What is the normal function of the NTRK2 gene?
- From NCBI 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 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]
- From UniProt:
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. Receptor for BDNF/brain-derived neurotrophic factor and NTF4/neurotrophin-4. Alternatively can also bind NTF3/neurotrophin-3 which is less efficient in activating the receptor but regulates neuron survival through NTRK2. Upon ligand-binding, undergoes homodimerization, autophosphorylation and activation. Recruits, phosphorylates and/or activates several downstream effectors including SHC1, FRS2, SH2B1, SH2B2 and PLCG1 that regulate distinct overlapping signaling cascades. Through SHC1, FRS2, SH2B1, SH2B2 activates the GRB2-Ras-MAPK cascade that regulates for instance neuronal differentiation including neurite outgrowth. Through the same effectors controls the Ras-PI3 kinase-AKT1 signaling cascade that mainly regulates growth and survival. Through PLCG1 and the downstream protein kinase C-regulated pathways controls synaptic plasticity. Thereby, plays a role in learning and memory by regulating both short term synaptic function and long-term potentiation. PLCG1 also leads to NF-Kappa-B activation and the transcription of genes involved in cell survival. Hence, it is able to suppress anoikis, the apoptosis resulting from loss of cell-matrix interactions. May also play a role in neutrophin-dependent calcium signaling in glial cells and mediate communication between neurons and glia.
How are changes in the NTRK2 gene related to health conditions?
- UniProt provides the following information about the NTRK2 gene's known or predicted involvement in human disease.
Obesity hyperphagia and developmental delay (OHPDD): A disorder characterized by early-onset obesity, hyperphagia, and severe developmental delay in motor function, speech, and language. The disease is caused by mutations affecting the gene represented in this entry.
- NCBI Gene lists the following diseases or traits (phenotypes) known or believed to be associated with changes in the NTRK2 gene.
- Obesity, hyperphagia, and developmental delay
- UniProt and NCBI Gene cite these articles in OMIM, a catalog designed for genetics professionals and researchers that provides detailed information about genetic conditions and genes.
Where is the NTRK2 gene located?
Cytogenetic Location: 9q22.1
Molecular Location on chromosome 9: base pairs 84,668,501 to 85,027,069
The NTRK2 gene is located on the long (q) arm of chromosome 9 at position 22.1.
More precisely, the NTRK2 gene is located from base pair 84,668,501 to base pair 85,027,069 on chromosome 9.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about NTRK2?
You and your healthcare professional may find the following resources about NTRK2 helpful.
- Genetic Testing Registry - Repository of genetic test information
You may also be interested in these resources, which are designed for genetics professionals and researchers.
- OMIM - Genetic disorder catalog
- Research Resources - Tools for researchers
What other names do people use for the NTRK2 gene or gene products?
Where can I find general information about genes?
The Handbook provides basic information about genetics in clear language.
These links provide additional genetics resources that may be useful.
What glossary definitions help with understanding NTRK2?
The resources on this site should not be used as a substitute for
professional medical care or advice. Users seeking information about
a personal genetic disease, syndrome, or condition should consult with a qualified
See How can I find a genetics professional in my area? in the Handbook.