From UniProt: Defects in NTRK3 are associated with susceptibility to congenital heart defects (CHD). A disease characterized by congenital developmental abnormalities involving structures of the heart. CHD are the most common major birth defects and the leading cause of death from congenital malformations.

     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 and may play a role in the development of proprioceptive neurons that sense body position. Mutations in this gene have been associated with medulloblastomas, secretory breast carcinomas and other cancers. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2011] From UniProt: Receptor tyrosine kinase involved in nervous system and probably heart development. Upon binding of its ligand NTF3/neurotrophin-3, NTRK3 autophosphorylates and activates different signaling pathways, including the phosphatidylinositol 3-kinase/AKT and the MAPK pathways, that control cell survival and differentiation.

The following transcription factors affect gene expression:

• AP-1
• c-Jun

Tissue specificity:

Widely expressed but mainly in nervous tissue. Isoform 2 is expressed at higher levels in adult brain than in fetal brain.

Molecular Function:

• P53 Binding
• Gpi-Linked Ephrin Receptor Activity
• Neurotrophin Receptor Activity
• Atp Binding
• Neurotrophin Binding

Biological Processes:

• Activation Of Mapk Activity
• Neuron Migration
• Negative Regulation Of Protein Phosphorylation
• Positive Regulation Of Protein Phosphorylation
• Transmembrane Receptor Protein Tyrosine Kinase Signaling Pathway
• Heart Development
• Circadian Rhythm
• Positive Regulation Of Cell Proliferation
• Positive Regulation Of Gene Expression
• Modulation By Virus Of Host Transcription
• Positive Regulation Of Cell Migration
• Activation Of Protein Kinase B Activity
• Positive Regulation Of Peptidyl-Serine Phosphorylation
• Mechanoreceptor Differentiation
• Positive Regulation Of Apoptotic Process
• Response To Ethanol
• Protein Autophosphorylation
• Neuron Fate Specification
• Response To Axon Injury
• Positive Regulation Of Axon Extension Involved In Regeneration
• Negative Regulation Of Astrocyte Differentiation
• Positive Regulation Of Positive Chemotaxis
• Response To Corticosterone
• Positive Regulation Of Synapse Assembly
• Negative Regulation Of Cell Death
• Lens Fiber Cell Differentiation
• Cellular Response To Retinoic Acid
• Cochlea Development
• Activation Of Gtpase Activity
• Positive Regulation Of Actin Cytoskeleton Reorganization