Endometriosis Knowledgebase


A repository for genes associated with endometriosis

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Gene id 627
Gene Summary        Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed references    

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 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. [provided by RefSeq, Nov 2015]
OMIM 113505

Protein Summary
Protein general information P23560  

Name: Brain derived neurotrophic factor (BDNF) (Abrineurin)

Length: 247  Mass: 27,818

Tissue specificity: Brain. Highly expressed in hippocampus, amygdala, cerebral cortex and cerebellum. Also expressed in heart, lung, skeletal muscle, testis, prostate and placenta. {ECO

Sequence MTILFLTMVISYFGCMKAAPMKEANIRGQGGLAYPGVRTHGTLESVNGPKAGSRGLTSLADTFEHVIEELLDEDQ
KVRPNEENNKDADLYTSRVMLSSQVPLEPPLLFLLEEYKNYLDAANMSMRVRRHSDPARRGELSVCDSISEWVTA
ADKKTAVDMSGGTVTVLEKVPVSKGQLKQYFYETKCNPMGYTKEGCRGIDKRHWNSQCRTTQSYVRALTMDSKKR
IGWRFIRIDTSCVCTLTIKRGR
Structural information
Interpro:  IPR020430 IPR029034 IPR020408 IPR002072 IPR019846
Prosite:   PS00248 PS50270

Pfam:  		 PF00243

PDB:  		 1B8M 1BND
PDBsum:   1B8M 1BND

DIP:  		 5719
MINT:   1508504
STRING:   ENSP00000414303;
Other Databases GeneCards:  BDNF;  Malacards:  BDNF

Gene ontology


GO accessionTerm nameEvidence codeGo category
GO:0005169 neurotrophin TRKB recepto
r 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 developmen
t
 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 neurotrophi
c factor receptor signali
ng pathway
 TAS biological_process
GO:0031550 positive regulation of br
ain-derived neurotrophic
factor receptor signaling
pathway
 TAS biological_process
GO:0043524 negative regulation of ne
uron apoptotic process
 IBA biological_process
GO:0048471 perinuclear region of cyt
oplasm
 ISS cellular_component
GO:0048668 collateral sprouting
 IDA biological_process
GO:0048672 positive regulation of co
llateral sprouting
 IDA biological_process
GO:0051965 positive regulation of sy
napse assembly
 IDA biological_process
GO:0005102 receptor binding
 IEA molecular_function
GO:0005169 neurotrophin TRKB recepto
r 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 developmen
t
 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 neurotrophi
c factor receptor signali
ng pathway
 TAS biological_process
GO:0031550 positive regulation of br
ain-derived neurotrophic
factor receptor signaling
pathway
 TAS biological_process
GO:0043524 negative regulation of ne
uron apoptotic process
 IBA biological_process
GO:0048471 perinuclear region of cyt
oplasm
 ISS cellular_component
GO:0048668 collateral sprouting
 IDA biological_process
GO:0048672 positive regulation of co
llateral sprouting
 IDA biological_process
GO:0051965 positive regulation of sy
napse assembly
 IDA biological_process
GO:0005169 neurotrophin TRKB recepto
r 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 developmen
t
 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 neurotrophi
c factor receptor signali
ng pathway
 TAS biological_process
GO:0031550 positive regulation of br
ain-derived neurotrophic
factor receptor signaling
pathway
 TAS biological_process
GO:0043524 negative regulation of ne
uron apoptotic process
 IBA biological_process
GO:0048471 perinuclear region of cyt
oplasm
 ISS cellular_component
GO:0048668 collateral sprouting
 IDA biological_process
GO:0048672 positive regulation of co
llateral sprouting
 IDA biological_process
GO:0051965 positive regulation of sy
napse assembly
 IDA biological_process

KEGG pathways

hsa04010  MAPK signaling pathway
PTHR11589:SF3  Huntington disease
PTHR11589:SF3  Huntington disease
hsa04024  cAMP signaling pathway
hsa05016  Huntington's disease
hsa04722  Neurotrophin signaling pathway
hsa05034  Alcoholism
hsa05030  Cocaine addiction
PTHR11589:SF3  Huntington disease
PTHR11589:SF3  Huntington disease
PTHR11589:SF3  Huntington disease
PTHR11589:SF3  Metabotropic glutamate receptor group II pathway
PTHR11589:SF3  Metabotropic glutamate receptor group II pathway
PTHR11589:SF3  Metabotropic glutamate receptor group II pathway
PTHR11589:SF3  Huntington disease

Diseases

Associated diseases References
Alzheimer's disease PMID: 16054753
Anorexia nervosa PMID: 15115760
Anxiety disorder PMID: 15770238
Asthma PMID: 17584309
Attention-deficit hyperactivity disorder (ADHD) PMID: 18286632
Autism PMID: 17349978
Bipolar disorder PMID: 12161822
Bulimia PMID: 16901635
Childhood-onset mood disorders PMID: 15384083
Cognitive function PMID: 16301096
Congenital central hypoventilation syndrome KEGG: H00916
Depression PMID: 16458264
Diminished ovarian reserve (DOR) PMID: 18222435
Eating disorders PMID: 15108194,KEGG: H01703
Endometriosis PMID: 22447624
Epilepsy PMID: 12694935
Functional hypothalamic amenorrhea PMID: 25791538
Huntington's disease PMID: 16847693
Male infertility PMID: 22679788
Mood disorders PMID: 17505499
Multiple sclerosis PMID: 16046000
Myopia PMID: 17653045
Neuroticism PMID: 16043130
Obesity PMID: 15457498
Obsessive compulsive disorder PMID: 17241828, KEGG: H01450
Oligoasthenozoospermia PMID: 20849839
Oocyte maturation PMID: 22532606
Panic disorder PMID: 15118353
Parkinson's disease PMID: 11782995
Personality disorders PMID: 14681916
Polycystic ovary syndrome (PCOS) PMID: 22420627
Schizophrenia PMID: 11032392
Seizures PMID: 15279867
Subarachnoid Hemorrhage PMID: 17761923
Endometriosis associated infertility INFBASE22447624
Diminished ovarian reserve INFBASE18222435
Endometriosis INFBASE18222435
Turner Syndrome (TS) PMID: 24397357

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
22447624 Endometrio
sis
 Val66Met Chinese
Han
 669 (425 endome
triosis patient
s, 244 controls
)
 Female infertility
Show abstract
26409150 Endometrio
sis
138 (96 cases u
ndergoing endom
etriosis surger
y, 24 undergoin
g benign gyneco
logical surgery
, 18 combined w
ith healthy wom
en, no history
of pelvic pain,
not undergoing
surgery)
 Female infertility BDNF
NGF
NT4/5
CA-125
and CRP
 Show abstract
18222435 Endometrio
sis
106 patients un
dergoing an IVF
cycle for diff
erent etiologie
s of infertilit
y, women with
male-factor (co
ntrol) infertil
ity
 Female infertility BDNF
NGF
 Show abstract