MitoProteome Database

New search | Record Overview | Ontology/Pathway Information | Domain Information | UniProt Annotations | Related Proteins

MT000082

UniProt Annotations

Entry Information

Gene Name	brain-derived neurotrophic factor
Protein Entry	BDNF_HUMAN
UniProt ID	P23560
Species	Human

Comments

Comment type	Description
Alternative Products	Event=Alternative promoter usage, Alternative splicing; Named isoforms=5; Comment=2 types of transcripts are produced: non-coding transcripts (antisense, opposite strand (OS), 8 exons) and coding transcripts (11 exons). Brain BDNF and anti-BDNF transcripts form dsRNA duplexes.; Name=1; IsoId=P23560-1; Sequence=Displayed; Name=2; IsoId=P23560-2; Sequence=VSP_037948; Name=3; IsoId=P23560-3; Sequence=VSP_038099; Name=4; IsoId=P23560-4; Sequence=VSP_038100; Name=5; IsoId=P23560-5; Sequence=VSP_038101;
Disease	Congenital central hypoventilation syndrome (CCHS) [MIM:209880]: 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. {ECO:0000269\|PubMed:11840487}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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. {ECO:0000269\|PubMed:12553913}.
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.
Ptm	Converted into mature BDNF by plasmin (PLG). {ECO:0000250}.
Ptm	The propeptide is N-glycosylated and glycosulfated.
Similarity	Belongs to the NGF-beta family. {ECO:0000305}.
Subcellular Location	Secreted.
Subunit	Monomers and homodimers. Binds to NTRK2/TRKB.
Tissue Specificity	Brain. Highly expressed in hippocampus, amygdala, cerebral cortex and cerebellum. Also expressed in heart, lung, skeletal muscle, testis, prostate and placenta. {ECO:0000269\|PubMed:17629449}.
Web Resource	Name=Wikipedia; Note=BDNF entry; URL="http://en.wikipedia.org/wiki/Brain-derived_neurotrophic_factor";