Brain-Derived Neurotrophic Factor

Alternative Names

  • BDNF

Associated Diseases

Obesity
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OMIM Number

113505

NCBI Gene ID

627

Uniprot ID

P23560

Length

67,138 bases

No. of Exons

12

No. of isoforms

5

Protein Name

Brain-derived neurotrophic factor

Molecular Mass

27818 Da

Amino Acid Count

247

Genomic Location

chr11:27,654,892-27,722,029

Gene Map Locus
11p14.1

Description

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. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_001709.5:c.*2327=United Arab EmiratesNC_000011.10:g.27655494=NG_011794.1:g.71564A>G; NM_001709.5:c.*2327=; NP_001700.2:p.?7124442
NM_170735.6:c.196G>AUnited Arab EmiratesNC_000011.10:g.27658369C>TBenign, Risk factorObesityNG_011794.1:g.68690G>A; NM_170735.6:c.196G>A; NP_733931.1:p.Val66Met626517697
NR_002832.2:n.375-4076=United Arab EmiratesNC_000011.10:g.27654165=NG_011794.1:g.72892=; NR_002832.2:n.375-4076=1519480
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