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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
69
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Obesity Likely pathogenic rs1852795747 RCV001261409
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ALZHEIMERS DISEASE Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AMPHETAMINE OR RELATED ACTING SYMPATHOMIMETIC ABUSE Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AMPHETAMINE-RELATED DISORDERS CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ASTHMA Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acne Acne BEFREE 30980616, 31234814
★☆☆☆☆
Found in Text Mining only
Acne Vulgaris Acne BEFREE 30980616, 31234814
★☆☆☆☆
Found in Text Mining only
Acoustic Neuroma Acoustic Neuroma BEFREE 19937367
★☆☆☆☆
Found in Text Mining only
Acute Cerebrovascular Accidents Stroke BEFREE 24523540, 25241287, 30826210
★☆☆☆☆
Found in Text Mining only
Acute Confusional Senile Dementia Senile Dementia CTD_human_DG 17344400
★☆☆☆☆
Found in Text Mining only
Acute Coronary Syndrome Coronary Syndrome BEFREE 26313133, 26795846, 29062839, 30380818, 31255678
★☆☆☆☆
Found in Text Mining only
Acute leukemia Leukemia BEFREE 16173964, 22652301
★☆☆☆☆
Found in Text Mining only
Acute schizophrenia Schizophrenia BEFREE 28671000, 29392373
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 26926340
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 16862449, 24982195
★☆☆☆☆
Found in Text Mining only