Gene Gene information from NCBI Gene database.
Entrez ID 627
Gene name Brain derived neurotrophic factor
Gene symbol BDNF
Synonyms (NCBI Gene)
ANON2BULN2
Chromosome 11
Chromosome location 11p14.1
Summary 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
miRNA miRNA information provided by mirtarbase database.
135
miRTarBase ID miRNA Experiments Reference
MIRT001946 hsa-miR-30a-5p Luciferase reporter assay 18632683
MIRT003153 hsa-miR-210-3p 2DGEimmunoprecipitaionLuciferase reporter assayMass spectrometryMicroarrayqRT-PCRWestern blot 19826008
MIRT002955 hsa-miR-1-3p Luciferase reporter assay 14697198
MIRT005900 hsa-miR-22-3p Luciferase reporter assayMicroarray 21168126
MIRT054501 hsa-miR-182-5p qRT-PCRWestern blotting 23704927
Transcription factors Transcription factors information provided by TRRUST V2 database.
2
Transcription factor Regulation Reference
CREB1 Activation 11719924
REST Repression 18075316;18518926
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
33
GO ID Ontology Definition Evidence Reference
GO:0005102 Function Signaling receptor binding IEA
GO:0005163 Function Nerve growth factor receptor binding IBA
GO:0005515 Function Protein binding IPI 7703225, 10631974, 25241761, 29997244, 32296183, 32814053, 33961781
GO:0005576 Component Extracellular region IEA
GO:0005576 Component Extracellular region TAS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
113505 1033 ENSG00000176697
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P23560
Protein name Neurotrophic factor BDNF precursor form (proBDNF) (Abrineurin) (Brain-derived neurotrophic factor) [Cleaved into: Neurotrophic factor BDNF]
Protein function Important signaling molecule that activates signaling cascades downstream of NTRK2 (PubMed:11152678). During development, promotes the survival and differentiation of selected neuronal populations of the peripheral and central nervous systems. P
PDB 1B8M , 1BND
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00243 NGF 133 246 Nerve growth factor family Domain
Tissue specificity TISSUE SPECIFICITY: Detected in blood plasma and in saliva (at protein level) (PubMed:11152678, PubMed:19467646). Brain. Highly expressed in hippocampus, amygdala, cerebral cortex and cerebellum. Also expressed in heart, lung, skeletal muscle, testis, pro
Sequence
MTILFLTMVISYFGCMKAAPMKEANIRGQGGLAYPGVRTHGTLESVNGPKAGSRGLTSLA
DTFEHVIEELLDEDQKVRPNEENNKDADLYTSRVMLSSQVPLEPPLLFLLEEYKNYLDAA
NMSMRVRRHSDPARRGELSVCDSISEWVTAADKKTAVDMSGGTVTVLEKVPVSKGQLKQY
FYETKCNPMGYTKEGCRGIDKRHWNSQCRTTQSYVRALTMDSKKRIGWRFIRIDTSCVCT
LTIKRG
R
Sequence length 247
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  MAPK signaling pathway
Ras signaling pathway
cAMP signaling pathway
PI3K-Akt signaling pathway
Neurotrophin signaling pathway
Huntington disease
Pathways of neurodegeneration - multiple diseases
Cocaine addiction
Alcoholism
  Activated NTRK2 signals through PLCG1
Activated NTRK2 signals through FRS2 and FRS3
NTRK2 activates RAC1
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
45
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Obesity Likely pathogenic rs1852795747 RCV001261409
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
BDNF-related disorder Uncertain significance; Likely benign; Conflicting classifications of pathogenicity; Benign rs751074725, rs539177035, rs150767807, rs199638553, rs144235869, rs139352447, rs747002774, rs763357890, rs767681787, rs1045077557, rs770444228, rs146354977, rs2538961114, rs748698239, rs377250764
View all (23 more)
RCV003928861
RCV003401662
RCV003913612
RCV004747243
RCV003928910
RCV003420539
RCV003417130
RCV003417144
RCV003408713
RCV003392770
RCV003419162
RCV003393061
RCV003412440
RCV003405951
RCV003419127
RCV003399548
RCV003412001
RCV003404640
RCV003410856
RCV003391508
RCV003939123
RCV003907203
RCV003894003
RCV003979549
RCV003977379
RCV003899378
RCV003901373
RCV003941878
RCV003943953
RCV003951854
RCV003934389
RCV003956950
RCV003957003
RCV003924661
RCV003981835
RCV003914855
RCV003940507
RCV004746124
RCV003902990
Congenital central hypoventilation Conflicting classifications of pathogenicity rs8192466 RCV000019266
Memory impairment, susceptibility to Benign rs6265 RCV000019267
Variant of unknown significance Uncertain significance rs56164415 RCV000019273
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
AA amyloidosis Associate 30909233
Abdominal Injuries Associate 31167208
Abdominal Pain Associate 25358868
Abnormalities Drug Induced Associate 32493978
Acidemia isovaleric Associate 20690185
Acne Vulgaris Inhibit 31234814
Acute Coronary Syndrome Associate 31887219, 35459929
Acute Pain Associate 36336706
Adenocarcinoma Associate 23531103, 26926340
Adenocarcinoma of Lung Associate 36151890