Human Gene BDNF (uc001mrv.1) Description and Page Index
Description: brain-derived neurotrophic factor isoform a RefSeq Summary (NM_170733): This gene encodes a member of the nerve growth factor family of proteins. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate the mature protein. Binding of this protein to its cognate receptor promotes neuronal survival in the adult brain. Expression of this gene is reduced in Alzheimer's, Parkinson's, and Huntington's disease patients. This gene may play a role in the regulation of the stress response and in the biology of mood disorders. [provided by RefSeq, Nov 2015]. Transcript (Including UTRs) Position: hg18 chr11:27,633,018-27,679,729 Size: 46,712 Total Exon Count: 2 Strand: - Coding Region Position: hg18 chr11:27,635,944-27,636,687 Size: 744 Coding Exon Count: 1
ID:BDNF_HUMAN DESCRIPTION: RecName: Full=Brain-derived neurotrophic factor; Short=BDNF; AltName: Full=Abrineurin; Flags: Precursor; FUNCTION: During development, promotes the survival and differentiation of selected neuronal populations of the peripheral and central nervous systems. Participates in axonal growth, pathfinding and in the modulation of dendritic growth and morphology. Major regulator of synaptic transmission and plasticity at adult synapses in many regions of the CNS. The versatility of BDNF is emphasized by its contribution to a range of adaptive neuronal responses including long-term potentiation (LTP), long-term depression (LTD), certain forms of short-term synaptic plasticity, as well as homeostatic regulation of intrinsic neuronal excitability. SUBUNIT: Monomers and homodimers. Binds to NTRK2/TRKB. INTERACTION: P20783:NTF3; NbExp=1; IntAct=EBI-1026003, EBI-1025994; SUBCELLULAR LOCATION: Secreted. TISSUE SPECIFICITY: Brain. Highly expressed in hippocampus, amygdala, cerebral cortex and cerebellum. Also expressed in heart, lung, skeletal muscle, testis, prostate and placenta. PTM: The propeptide is N-glycosylated and glycosulfated. PTM: Converted into mature BDNF by plasmin (PLG) (By similarity). POLYMORPHISM: Variations in BDNF are associated with susceptibility to bulimia nervosa 2 (BULN2) [MIM:610269]. Several genes with an essential role in the regulation of eating behavior and body weight are considered candidates involved in the etiology of eating disorders (ED), but no relevant susceptibility genes with a major effect on anorexia nervosa (AN) or bulimia nervosa (BN) have been identified. BDNF has been implicated in the regulation of food intake and body weight in rodents. A strong association has been reported of the Met-66 allele of the Val-66- Met BDNF variant with restricting AN (ANR) and low minimum body mass index in Spanish patients. Met-66 variant is strongly associated to all ED subtypes (AN, ANR, binge-eating/purging AN and BN) in European patients. Another single nucleotide polymorphism located in the promoter region of the BDNF gene showed an effect on BN and late age at onset of weight loss. These are two variants associated with the pathophysiology of ED in different populations. These variants support a role for BDNF in the susceptibility to aberrant eating behaviors. DISEASE: Defects in BDNF are a cause of congenital central hypoventilation syndrome (CCHS) [MIM:209880]; also known as congenital failure of autonomic control or Ondine curse. CCHS is a rare disorder characterized by abnormal control of respiration in the absence of neuromuscular or lung disease, or an identifiable brain stem lesion. A deficiency in autonomic control of respiration results in inadequate or negligible ventilatory and arousal responses to hypercapnia and hypoxemia. CCHS is frequently complicated with neurocristopathies such as Hirschsprung disease that occurs in about 16% of CCHS cases. SIMILARITY: Belongs to the NGF-beta family. WEB RESOURCE: Name=Wikipedia; Note=BDNF entry; URL="http://en.wikipedia.org/wiki/Brain-derived_neurotrophic_factor";
Genetic Association Studies of Complex Diseases and Disorders
affective psychoses Hong, C. J. et al. 2003, Association study of a brain-derived neurotrophic-factor genetic polymorphism and mood disorders, age of onset and suicidal behavior., Neuropsychobiology. 2003 ;48(4):186-9.
GiveY the fact that the positive associatioY betweeY BDYF geYe Val66Met polymorphism aYd bipolar disorder has oYly beeY demoYstrated for a CaucasiaY populatioY but Yot for a JapaYese aYalog or our ChiYese sample, it appears likely that this associatioY is ethYicity depeYdeYt.
alcoholism Matsushita, S. et al. 2004, Association study of brain-derived neurotrophic factor gene polymorphism and alcoholism., Alcoholism, clinical and experimental research. 2004 Nov;28(11):1609-12.
These results indicate that BDNF gene polymorphism might modify phenotypes of alcoholism.
Alzheimer's Disease Riemenschneider M et al. 2002, A polymorphism of the brain-derived neurotrophic factor (BDNF) is associated with Alzheimer's disease in patients lacking the Apolipoprotein E epsilon4 allele., Molecular psychiatry. 2002 ;7(7):782-5.
The results suggest that the BDNF C-270T polymorphism is a relevant risk factor for AD particularly in patients lacking the ApoE epsilon4 allele in this German sample.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P23560
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.