Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
627
Gene name Gene Name - the full gene name approved by the HGNC.
Brain derived neurotrophic factor
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
BDNF
Synonyms (NCBI Gene) Gene synonyms aliases
ANON2, BULN2
Chromosome Chromosome number
11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
11p14.1
Summary Summary of gene provided in NCBI Entrez Gene.
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.
miRTarBase ID miRNA Experiments Reference
MIRT001946 hsa-miR-30a-5p Luciferase reporter assay 18632683
MIRT003153 hsa-miR-210-3p 2DGE, immunoprecipitaion, Luciferase reporter assay, Mass spectrometry, Microarray, qRT-PCR, Western blot 19826008
MIRT002955 hsa-miR-1-3p Luciferase reporter assay 14697198
MIRT005900 hsa-miR-22-3p Luciferase reporter assay, Microarray 21168126
MIRT054501 hsa-miR-182-5p qRT-PCR, Western blotting 23704927
Transcription factors
Transcription factor Regulation Reference
CREB1 Activation 11719924
REST Repression 18075316;18518926
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
113505 1033 ENSG00000176697
Protein
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Congenital Central Hypoventilation congenital central hypoventilation N/A N/A ClinVar
Coronary artery disease Coronary artery disease N/A N/A GWAS
Diabetes Type 2 diabetes N/A N/A GWAS
Gout Gout N/A N/A GWAS
Associations from Text Mining Disease 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