• Gene id: 627

Gene Summary

• Gene Symbol: BDNF   Gene   UCSC   Ensembl
• Aliases: ANON2, BULN2
• Gene name: brain derived neurotrophic factor
• Alternate names: brain-derived neurotrophic factor, abrineurin, neurotrophin,
• Gene location: 11p14.1 (27722057: 27654892)     Exons: 12     NC_000011.10
• Gene summary(Entrez): 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
• OMIM: 113505

Protein Summary

• Protein general information: P23560  
  • Name: Brain derived neurotrophic factor (BDNF) (Abrineurin)
  • Length: 247  
  • Mass: 27,818
• Sequence:

  MTILFLTMVISYFGCMKAAPMKEANIRGQGGLAYPGVRTHGTLESVNGPKAGSRGLTSLADTFEHVIEELLDEDQ
  KVRPNEENNKDADLYTSRVMLSSQVPLEPPLLFLLEEYKNYLDAANMSMRVRRHSDPARRGELSVCDSISEWVTA
  ADKKTAVDMSGGTVTVLEKVPVSKGQLKQYFYETKCNPMGYTKEGCRGIDKRHWNSQCRTTQSYVRALTMDSKKR
  IGWRFIRIDTSCVCTLTIKRGR

• Structural information:
  • Interpro: IPR020430  IPR029034  IPR020408  IPR002072  IPR019846  
  • Prosite: PS00248 PS50270
  • PDB: 1B8M 1BND
  • PDBsum: 1B8M 1BND
  • DIP: 5719
  • STRING: ENSP00000414303
• Other Databases: GeneCards:  BDNF  Malacards:  BDNF

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005169	neurotrophin TRKB receptor binding	IBA	molecular function
GO:0005576	extracellular region	IBA	cellular component
GO:0005737	cytoplasm	ISS	cellular component
GO:0007267	cell-cell signaling	IBA	biological process
GO:0007399	nervous system development	TAS	biological process
GO:0007411	axon guidance	TAS	biological process
GO:0007416	synapse assembly	IDA	biological process
GO:0008083	growth factor activity	IEA	molecular function
GO:0031547	brain-derived neurotrophic factor receptor signaling pathway	TAS	biological process
GO:0031550	positive regulation of brain-derived neurotrophic factor receptor signaling pathway	TAS	biological process
GO:0043524	negative regulation of neuron apoptotic process	IBA	biological process
GO:0048471	perinuclear region of cytoplasm	ISS	cellular component
GO:0048668	collateral sprouting	IDA	biological process
GO:0048672	positive regulation of collateral sprouting	IDA	biological process
GO:0051965	positive regulation of synapse assembly	IDA	biological process
GO:0005102	receptor binding	IEA	molecular function
GO:0005169	neurotrophin TRKB receptor binding	IBA	molecular function
GO:0005576	extracellular region	IBA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0005737	cytoplasm	ISS	cellular component
GO:0007267	cell-cell signaling	IBA	biological process
GO:0007399	nervous system development	TAS	biological process
GO:0007411	axon guidance	TAS	biological process
GO:0007416	synapse assembly	IDA	biological process
GO:0008083	growth factor activity	IEA	molecular function
GO:0008083	growth factor activity	TAS	molecular function
GO:0031547	brain-derived neurotrophic factor receptor signaling pathway	TAS	biological process
GO:0031550	positive regulation of brain-derived neurotrophic factor receptor signaling pathway	TAS	biological process
GO:0043524	negative regulation of neuron apoptotic process	IBA	biological process
GO:0048471	perinuclear region of cytoplasm	ISS	cellular component
GO:0048668	collateral sprouting	IDA	biological process
GO:0048672	positive regulation of collateral sprouting	IDA	biological process
GO:0051965	positive regulation of synapse assembly	IDA	biological process
GO:0005169	neurotrophin TRKB receptor binding	IBA	molecular function
GO:0005576	extracellular region	IBA	cellular component
GO:0005737	cytoplasm	ISS	cellular component
GO:0007267	cell-cell signaling	IBA	biological process
GO:0007399	nervous system development	TAS	biological process
GO:0007411	axon guidance	TAS	biological process
GO:0007416	synapse assembly	IDA	biological process
GO:0008083	growth factor activity	TAS	molecular function
GO:0031547	brain-derived neurotrophic factor receptor signaling pathway	TAS	biological process
GO:0031550	positive regulation of brain-derived neurotrophic factor receptor signaling pathway	TAS	biological process
GO:0043524	negative regulation of neuron apoptotic process	IBA	biological process
GO:0048471	perinuclear region of cytoplasm	ISS	cellular component
GO:0048668	collateral sprouting	IDA	biological process
GO:0048672	positive regulation of collateral sprouting	IDA	biological process
GO:0051965	positive regulation of synapse assembly	IDA	biological process

KEGG pathways

Pathway id	Pathway name
hsa04024	cAMP signaling pathway
hsa04151	PI3K-Akt signaling pathway
hsa04722	Neurotrophin signaling pathway
hsa05016	Huntington disease
hsa05030	Cocaine addiction
hsa05034	Alcoholism

Diseases

Associated diseases	References
Cancer (cervical)	GAD: 19857550
Angina pectoris	GAD: 19013140
Apoplexy	GAD: 20738025
Hypertension	GAD: 19210038
Cardiovascular disease	GAD: 20163778
Cerebral infarction	GAD: 18797348
Rett syndrome	GAD: 19349604
Myopia	GAD: 17653045
Asthma	GAD: 17584309
Multiple sclerosis	GAD: 16046000
Obesity	GAD: 18753648
Hypercholesterolemia	GAD: 20602615
Obesity	GAD: 19622243
Diabetes	GAD: 20215397
Bone diseases	GAD: 19453261
Spinal diseases	GAD: 18504448
Tardive dyskinesia	GAD: 15626824
Dystonia	GAD: 19473353
Subarachnoid hemorrhage	GAD: 17761923
Alzheimer's disease	GAD: 16565926
Amnesia	GAD: 18692116
Brain injuries	GAD: 20515362
Huntington's disease	GAD: 16905325
Parkinson disease	GAD: 14642442
Epilepsy	GAD: 12694935
Anorexia nervosa	GAD: 17197106
Anxiety disorder	GAD: 15770238
Attention deficit hyperactivity disorder (ADHD)	GAD: 17427194
Autism	GAD: 17349978
Bipolar disorder	GAD: 12161822
Mood disorders	GAD: 17505499
Panic disorder	GAD: 15118353
Mental disorder	GAD: 20175892
Mood disorders	GAD: 17217930
Neuroticism	GAD: 16043130
Schizophrenia	GAD: 16741916
Psychological disorders	GAD: 19086053
Obsessive compulsive disorder	KEGG: H01450
Bulimia	GAD: 20468064
Cognitive function	GAD: 16301096
Dementia	GAD: 16899999
Depression	GAD: 18205169
Depression	GAD: 17222482
Eating disorders	GAD: 15108194
Premature ovarian failure (POF)	GAD: 19508998
Female infertility	INFBASE: 26409150
Functional hypothalamic amenorrhea (FHA)	INFBASE: 23844985
Oocyte maturation	INFBASE: 22532606
Polycystic ovary syndrome (PCOS)	INFBASE: 22420627
Turners syndrome	INFBASE: 24397357
Male factor infertility	MIK: 22679788
Oligoasthenozoospermia	MIK: 20849839
Diminished ovarian reserve (DOR)	INFBASE: 18222435
Endometriosis	INFBASE: 22447624
Embryo quality	INFBASE: 19602522
Dermatitis	GAD: 19038326
Atrophy	GAD: 19884612
Childhood-onset mood disorders	GAD: 15384083
Male infertility	MIK: 22679788
Oligoasthenozoospermia	MIK: 20849839
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
22679788	Male infertility	G196A and C270T polymorphisms	Chinese		Male infertility
20849839	Male infertility, oligoasthenozoospermic				Male infertility
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray