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... See more...

Aliases for BDNF Gene

Aliases for BDNF Gene

  • Brain Derived Neurotrophic Factor 2 3 5
  • Brain-Derived Neurotrophic Factor 3 4
  • Neurotrophin 2 3
  • Abrineurin 3 4
  • ANON2 3
  • BULN2 3

External Ids for BDNF Gene

Previous GeneCards Identifiers for BDNF Gene

  • GC11P029056
  • GC11M028453
  • GC11M027715
  • GC11M027640
  • GC11M027633
  • GC11M027374
  • GC11M027676

Summaries for BDNF Gene

Entrez Gene Summary for BDNF 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 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]

GeneCards Summary for BDNF Gene

BDNF (Brain Derived Neurotrophic Factor) is a Protein Coding gene. Diseases associated with BDNF include Central Hypoventilation Syndrome, Congenital and Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome. Among its related pathways are ERK Signaling and Ras signaling pathway. Gene Ontology (GO) annotations related to this gene include signaling receptor binding and neurotrophin TRKB receptor binding. An important paralog of this gene is NTF3.

UniProtKB/Swiss-Prot Summary for BDNF Gene

  • 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. Participates in axonal growth, pathfinding and in the modulation of dendritic growth and morphology. Major regulator of synaptic transmission and plasticity at adult synapses in many regions of the CNS. The versatility of BDNF is emphasized by its contribution to a range of adaptive neuronal responses including long-term potentiation (LTP), long-term depression (LTD), certain forms of short-term synaptic plasticity, as well as homeostatic regulation of intrinsic neuronal excitability.
  • [BDNF precursor form]: Important signaling molecule that activates signaling cascades downstream of NTRK2. Activates signaling cascades via the heterodimeric receptor formed by NGFR and SORCS2 (PubMed:24908487, PubMed:29909994). Signaling via NGFR and SORCS2 plays a role in synaptic plasticity and long-term depression (LTD). Binding to NGFR and SORCS2 promotes neuronal apoptosis. Promotes neuronal growth cone collapse (By similarity).

Tocris Summary for BDNF Gene

  • Trk (neurotrophin) receptors are single transmembrane catalytic receptors with intracellular tyrosine kinase activity. Trk receptors are coupled to the Ras, Cdc42/Rac/RhoG, MAPK, PI3K and PLCgamma signaling pathways. Four members of the Trk family have been identified.

Gene Wiki entry for BDNF Gene

Additional gene information for BDNF Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for BDNF Gene

Genomics for BDNF Gene

GeneHancer (GH) Regulatory Elements for BDNF Gene

Promoters and enhancers for BDNF Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH11J027717 Promoter/Enhancer 2 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 506.5 +3.2 3158 2.6 HNRNPK EP300 CTCF REST POLR2A ZNF423 ZBTB26 ATF2 ZNF341 EZH2 BDNF lnc-LIN7C-1 LIN7C piR-59769-092 ENSG00000255496
GH11J027697 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 511.1 +22.7 22680 6.3 CTCF ZIC2 ZBTB10 ZNF423 ZBTB26 SAP30 RAD21 TRIM22 SMC3 HDAC2 BDNF LIN7C lnc-LIN7C-1 piR-59769-092 ENSG00000255496 BDNF-AS
GH11J027721 Promoter/Enhancer 1.1 Ensembl ENCODE 500.7 -0.5 -499 1.7 ZSCAN5C USF1 ZIC2 ZBTB10 ZNF423 GABPA ZBTB26 HDAC2 ZNF341 POLR2A BDNF lnc-LIN7C-1 LIN7C lnc-BDNF-3 ENSG00000255496
GH11J027722 Enhancer 0.6 ENCODE 500.7 +1.6 1619 0.2 CTCF REST AFF1 SAP30 HDAC2 MIER1 GATA3 YY1 EHMT2 SIN3A BDNF lnc-LIN7C-1 piR-59769-092 ENSG00000255496
GH11J027720 Enhancer 0.6 ENCODE 500.7 +1.4 1389 0.2 CTCF REST AFF1 SAP30 HDAC2 MIER1 GATA3 YY1 EHMT2 SIN3A BDNF lnc-LIN7C-1 piR-59769-092 ENSG00000255496
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around BDNF on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for BDNF

Top Transcription factor binding sites by QIAGEN in the BDNF gene promoter:
  • NRSF form 1

Genomic Locations for BDNF Gene

Genomic Locations for BDNF Gene
chr11:27,654,893-27,722,058
(GRCh38/hg38)
Size:
67,166 bases
Orientation:
Minus strand
chr11:27,676,440-27,743,605
(GRCh37/hg19)
Size:
67,166 bases
Orientation:
Minus strand

Genomic View for BDNF Gene

Genes around BDNF on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BDNF Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BDNF Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BDNF Gene

Proteins for BDNF Gene

  • Protein details for BDNF Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P23560-BDNF_HUMAN
    Recommended name:
    Brain-derived neurotrophic factor
    Protein Accession:
    P23560
    Secondary Accessions:
    • A7LA85
    • A7LA92
    • D3DQZ2
    • Q598Q1
    • Q6DN19
    • Q6YNR2
    • Q6YNR3
    • Q9BYY7
    • Q9UC24

    Protein attributes for BDNF Gene

    Size:
    247 amino acids
    Molecular mass:
    27818 Da
    Quaternary structure:
    • Monomers and homodimers. Binds to NTRK2/TRKB (PubMed:8527932, PubMed:11152678). Can form heterodimers with other neurotrophin family members, such as NTF3 and NTF4 (in vitro), but the physiological relevance of this is not clear (PubMed:7703225, PubMed:10631974). BDNF precursor form: interacts with the heterodimer formed by NGFR and SORCS2 (PubMed:24908487).

    Three dimensional structures from OCA and Proteopedia for BDNF Gene

    Alternative splice isoforms for BDNF Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for BDNF Gene

Post-translational modifications for BDNF Gene

  • [BDNF precursor form]: N-glycosylated and glycosulfated, contrary to mature BDNF.
  • Mature BDNF is produced by proteolytic removal of the propeptide, catalyzed by a FURIN family member. In addition, the precursor form is proteolytically cleaved within the propeptide, but this is not an obligatory intermediate for the production of mature BDNF (PubMed:11152678). Can be converted into mature BDNF by plasmin (PLG) (PubMed:19467646).
  • Glycosylation at Asn121
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Abcam antibodies for BDNF

Protein Products

  • Abcam proteins for BDNF

Assay Products

  • Abcam assays for BDNF

No data available for DME Specific Peptides for BDNF Gene

Domains & Families for BDNF Gene

Gene Families for BDNF Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Predicted secreted proteins

Protein Domains for BDNF Gene

Suggested Antigen Peptide Sequences for BDNF Gene

GenScript: Design optimal peptide antigens:
  • Abrineurin (BDNF_HUMAN)
  • Brain-derived neurotrophic factor preproprotein isoform 2 (Q304R1_HUMAN)
  • Brain-derived neurotrophic factor isoform 1 (Q6T2C9_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P23560

UniProtKB/Swiss-Prot:

BDNF_HUMAN :
  • Belongs to the NGF-beta family.
Family:
  • Belongs to the NGF-beta family.
genes like me logo Genes that share domains with BDNF: view

Function for BDNF Gene

Molecular function for BDNF Gene

UniProtKB/Swiss-Prot 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. Participates in axonal growth, pathfinding and in the modulation of dendritic growth and morphology. Major regulator of synaptic transmission and plasticity at adult synapses in many regions of the CNS. The versatility of BDNF is emphasized by its contribution to a range of adaptive neuronal responses including long-term potentiation (LTP), long-term depression (LTD), certain forms of short-term synaptic plasticity, as well as homeostatic regulation of intrinsic neuronal excitability.
UniProtKB/Swiss-Prot Function:
[BDNF precursor form]: Important signaling molecule that activates signaling cascades downstream of NTRK2. Activates signaling cascades via the heterodimeric receptor formed by NGFR and SORCS2 (PubMed:24908487, PubMed:29909994). Signaling via NGFR and SORCS2 plays a role in synaptic plasticity and long-term depression (LTD). Binding to NGFR and SORCS2 promotes neuronal apoptosis. Promotes neuronal growth cone collapse (By similarity).
GENATLAS Biochemistry:
brain-derived neurotrophic factor (neurotrophin 2) ligand for NTRK2 (TRKB),expressed in retina and the anterior segment of the developing eye

LifeMap Function Summary for BDNF Gene

BDNF as growth factor is involved in stem cell differentiation protocols towards the derivation of the following cells:

Phenotypes From GWAS Catalog for BDNF Gene

Gene Ontology (GO) - Molecular Function for BDNF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25241761
GO:0008083 growth factor activity TAS,IBA 21873635
genes like me logo Genes that share ontologies with BDNF: view
genes like me logo Genes that share phenotypes with BDNF: view

Human Phenotype Ontology for BDNF Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for BDNF Gene

MGI Knock Outs for BDNF:

Animal Model Products

CRISPR Products

Clone Products

  • Addgene plasmids for BDNF

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for BDNF Gene

Localization for BDNF Gene

Subcellular locations from UniProtKB/Swiss-Prot for BDNF Gene

Secreted.
[BDNF precursor form]: Secreted. Note=A proportion of BDNF is secreted as immature precursor (proBDNF). {ECO:0000269 PubMed:11152678, ECO:0000269 PubMed:19467646}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for BDNF gene
Compartment Confidence
extracellular 5
mitochondrion 5
nucleus 5
plasma membrane 3
cytoskeleton 3
endoplasmic reticulum 3
cytosol 3
peroxisome 2
endosome 2
lysosome 2
golgi apparatus 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (3)
  • Nuclear speckles (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for BDNF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space IBA 21873635
GO:0005737 cytoplasm ISS --
GO:0005739 mitochondrion IDA --
GO:0008021 synaptic vesicle IBA 21873635
genes like me logo Genes that share ontologies with BDNF: view

Pathways & Interactions for BDNF Gene

PathCards logo

SuperPathways for BDNF Gene

SuperPathway Contained pathways
1 Apoptotic Pathways in Synovial Fibroblasts
.85
.85
.84
.84
.74
.72
.66
.65
.64
.62
.61
.60
.57
.57
2 GPCR Pathway
.73
.73
.62
.59
.58
.58
.55
3 ERK Signaling
.61
.61
.58
.51
.49
4 Nanog in Mammalian ESC Pluripotency
.61
.61
.59
.48
5 CREB Pathway
.68
.68
.63
.50
genes like me logo Genes that share pathways with BDNF: view

Pathways by source for BDNF Gene

2 GeneGo (Thomson Reuters) pathways for BDNF Gene
  • Development MAG-dependent inhibition of neurite outgrowth
  • Development Neurotrophin family signaling
60 Qiagen pathways for BDNF Gene
  • 14-3-3 Induced Intracellular Signaling
  • Actin-Based Motility by Rho Family GTPases
  • Activation of cAMP-Dependent PKA
  • Activation of PKA through GPCR
  • Activation of PKC through GPCR

SIGNOR curated interactions for BDNF Gene

Activates:
Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for BDNF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007165 signal transduction IEA --
GO:0007169 transmembrane receptor protein tyrosine kinase signaling pathway IBA 21873635
GO:0007202 activation of phospholipase C activity TAS --
GO:0007399 nervous system development TAS 2236018
GO:0007411 axon guidance TAS 19036963
genes like me logo Genes that share ontologies with BDNF: view

Drugs & Compounds for BDNF Gene

(188) Drugs for BDNF Gene - From: DrugBank, PharmGKB, ClinicalTrials, ApexBio, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Citalopram Approved Pharma 582
Dopamine Approved Pharma Full agonist, Agonist 4787
Escitalopram Approved Pharma 0
Ethanol Approved Pharma 3220
Fluoxetine Approved, Vet_approved Pharma Channel blocker, Antagonist, Inhibition, Inhibitor 272

(52) Additional Compounds for BDNF Gene - From: Novoseek and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
AG 879
148741-30-4
LM11A 31 dihydrochloride
1243259-19-9

(4) Tocris Compounds for BDNF Gene

Compound Action Cas Number
AG 879 TrkA inhibitor 148741-30-4
BDNF (human) Activates TrkB and p75 receptors 218441-99-7
LM11A 31 dihydrochloride Nonpeptide p75NTR ligand; neuroprotective 1243259-19-9
TLQP 21 VGF-derived peptide 869988-94-3

(1) ApexBio Compounds for BDNF Gene

Compound Action Cas Number
3-Nitropropionic acid 504-88-1
genes like me logo Genes that share compounds with BDNF: view

Transcripts for BDNF Gene

mRNA/cDNA for BDNF Gene

18 REFSEQ mRNAs :
49 NCBI additional mRNA sequence :
19 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

  • Addgene plasmids for BDNF

Alternative Splicing Database (ASD) splice patterns (SP) for BDNF Gene

ExUns: 1 ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8a · 8b · 8c · 8d · 8e
SP1: - - - -
SP2: - - -
SP3: - -
SP4: -
SP5: - - - - - - - - -
SP6: - - - - - - - -
SP7: - - - - - - -
SP8: - - - - - -
SP9: - - - - -
SP10:

Relevant External Links for BDNF Gene

GeneLoc Exon Structure for
BDNF

Expression for BDNF Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for BDNF Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for BDNF Gene

This gene is overexpressed in Brain - Cerebellar Hemisphere (x4.1).

Protein differential expression in normal tissues from HIPED for BDNF Gene

This gene is overexpressed in Platelet (41.3) and Peripheral blood mononuclear cells (27.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for BDNF Gene



Protein tissue co-expression partners for BDNF Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for BDNF

SOURCE GeneReport for Unigene cluster for BDNF Gene:

Hs.502182

mRNA Expression by UniProt/SwissProt for BDNF Gene:

P23560-BDNF_HUMAN
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, prostate and placenta.

Evidence on tissue expression from TISSUES for BDNF Gene

  • Nervous system(4.9)
  • Blood(4.6)
  • Adrenal gland(2.8)
  • Eye(2.6)
  • Heart(2.4)
  • Muscle(2.4)
  • Bone marrow(2)
  • Intestine(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for BDNF Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • outer ear
  • skull
  • tooth
Thorax:
  • diaphragm
  • esophagus
  • heart
  • lung
Abdomen:
  • intestine
  • kidney
  • large intestine
  • stomach
Pelvis:
  • penis
  • rectum
  • testicle
  • urethra
General:
  • blood
  • blood vessel
  • peripheral nervous system
  • skin
  • spinal cord
  • sweat gland
genes like me logo Genes that share expression patterns with BDNF: view

Orthologs for BDNF Gene

This gene was present in the common ancestor of chordates.

Orthologs for BDNF Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia BDNF 31 30
  • 99.46 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia BDNF 31
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia BDNF 31 30
  • 93.66 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Bdnf 17 31 30
  • 92.26 (n)
rat
(Rattus norvegicus)
Mammalia Bdnf 30
  • 92.26 (n)
cow
(Bos Taurus)
Mammalia BDNF 31 30
  • 92.17 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia BDNF 31
  • 87 (a)
OneToOne
chicken
(Gallus gallus)
Aves BDNF 31 30
  • 85.91 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia BDNF 31
  • 87 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia bdnf 30
  • 82.65 (n)
African clawed frog
(Xenopus laevis)
Amphibia bdnf-A 30
zebrafish
(Danio rerio)
Actinopterygii bdnf 31 30 30
  • 76.39 (n)
OneToOne
Species where no ortholog for BDNF was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for BDNF Gene

ENSEMBL:
Gene Tree for BDNF (if available)
TreeFam:
Gene Tree for BDNF (if available)
Aminode:
Evolutionary constrained regions (ECRs) for BDNF: view image

Paralogs for BDNF Gene

Paralogs for BDNF Gene

(5) SIMAP similar genes for BDNF Gene using alignment to 5 proteins:

  • BDNF_HUMAN
  • E9PMP3_HUMAN
  • Q304R1_HUMAN
  • Q6T2C9_HUMAN
  • Q6YNR1_HUMAN
genes like me logo Genes that share paralogs with BDNF: view

Variants for BDNF Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for BDNF Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
709884 Likely Benign: not provided 27,658,148(-) G/A SYNONYMOUS_VARIANT
712726 Benign: not provided 27,658,019(-) G/A SYNONYMOUS_VARIANT
718660 Benign: not provided 27,657,926(-) C/T SYNONYMOUS_VARIANT
736217 Benign: not provided 27,658,244(-) G/C NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT
743862 Likely Benign: not provided 27,658,082(-) G/A SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for BDNF Gene

Structural Variations from Database of Genomic Variants (DGV) for BDNF Gene

Variant ID Type Subtype PubMed ID
nsv1070019 CNV deletion 25765185
nsv1070945 CNV deletion 25765185
nsv474533 CNV novel sequence insertion 20440878
nsv819223 CNV gain 19587683
nsv832095 CNV gain 17160897
nsv951324 CNV deletion 24416366

Variation tolerance for BDNF Gene

Residual Variation Intolerance Score: 39.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.79; 86.77% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for BDNF Gene

Human Gene Mutation Database (HGMD)
BDNF
SNPedia medical, phenotypic, and genealogical associations of SNPs for
BDNF

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BDNF Gene

Disorders for BDNF Gene

MalaCards: The human disease database

(172) MalaCards diseases for BDNF Gene - From: UniProtKB/Swiss-Prot, Orphanet, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search BDNF in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

BDNF_HUMAN
  • Congenital central hypoventilation syndrome (CCHS) [MIM:209880]: Rare disorder characterized by abnormal control of respiration in the absence of neuromuscular or lung disease, or an identifiable brain stem lesion. A deficiency in autonomic control of respiration results in inadequate or negligible ventilatory and arousal responses to hypercapnia and hypoxemia. {ECO:0000269 PubMed:11840487}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for BDNF

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with BDNF: view

No data available for Genatlas for BDNF Gene

Publications for BDNF Gene

  1. Brain-derived neurotrophic factor and obesity in the WAGR syndrome. (PMID: 18753648) Han JC … Yanovski JA (The New England journal of medicine 2008) 3 4 23 41 54
  2. Brain-derived neurotrophic factor ( BDNF) gene: no major impact on antid