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BDNF Gene

protein-coding GIFtS: 69

GC11M027633

brain-derived neurotrophic factor
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc , and/or ⁷Ensembl, ⁸miRBase)
About This Section

Aliases
Abrineurin ^³
MGC34632 ^²
neurotrophin ^²

Descriptions
brain-derived neurotrophic factor ^²

External Ids
HGNC: 1033¹
Entrez Gene: 627²
UniProtKB: P23560³
Ensembl: ENSG00000176697⁷

Search outside databases for aliases for BDNF gene

Previous GC identifers: GC11P029056 GC11M028453 GC11M027715 GC11M027640

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

EntrezGene summary for BDNF:

The protein encoded by this gene is a member of the nerve growth factor family. It is induced by

cortical neurons, and is necessary for survival of striatal neurons in the brain. Expression of

this gene is reduced in both Alzheimer's and Huntington disease patients. This gene may play

a role in the regulation of stress response and in the biology of mood disorders. Multiple

transcript variants encoding distinct isoforms have been described for this gene. [provided by

RefSeq]

UniProtKB/Swiss-Prot: BDNF_HUMAN, P23560

Function: Promotes the survival of neuronal populations that are all located either in the central

nervous system or directly connected to it. 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

Gene Wiki entry for BDNF (Brain-derived_neurotrophic_factor)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:

UCSC Golden Path with GeneCards custom track

Transcription factor binding sites upstream to the BDNF gene

Entrez Gene cytogenetic band: 11p13 Ensembl cytogenetic band: 11p14.1 HGNC cytogenetic band: 11p14.1

BDNF Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)

GeneLoc gene densities for chromosome 11 GeneLoc Exon Structure

GeneLoc location for GC11M027633: (about GC identifiers)

Start:	27,633,016 bp from pter
End:	27,700,181 bp from pter
Size:	67,166 bases
Orientation:	minus strand

RefSeq DNA sequence:

NC_000011.8 NT_009237.17

(According to ¹UniProtKB, and/or Ensembl, Phosphorylation sites according to ²Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
About This Section

UniProtKB/Swiss-Prot: BDNF_HUMAN, P23560 (See protein sequence)

Recommended Name: Brain-derived neurotrophic factor precursor

Size: 247 amino acids; 27818 Da

Subunit: Monomers and homodimers. Binds to NTRK2/TRKB

Subcellular location: Secreted

PDB structure from and Proteopedia :

1B8M (3D)

1BND (3D)

Secondary accessions: Q9BYY7 Q9UC24

Post-translational modifications:

The propeptide is N-glycosylated and glycosulfated¹

Converted into mature BDNF by plasmin (PLG) (By similarity)¹

View phosphorylation sites using PhosphoSite²

REFSEQ proteins (18 alternative transcripts):

NP_001137277.1 NP_001137278.1 NP_001137279.1 NP_001137280.1 NP_001137281.1 NP_001137282.1 NP_001137283.1 NP_001137284.1

NP_001137285.1 NP_001137286.1 NP_001137287.1 NP_001137288.1 NP_001700.2 NP_733927.1 NP_733928.1 NP_733929.1

NP_733930.1 NP_733931.1

ENSEMBL proteins:

ENSP00000379304 ENSP00000379305 ENSP00000349084 ENSP00000379302 ENSP00000379307 ENSP00000379309

ENSP00000320002

Human Recombinant Proteins

	Invitrogen human recombinant proteins for BDNF
	Millipore Purified and/or Recombinant BDNF Protein
	Sigma-Aldrich Proteins for BDNF
	R&D Systems Recombinant & Natural Proteins for BDNF
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Recombinant Proteins from Abcam (BDNF, proBDNF)
	Human Recombinant Proteins from Abnova (BDNF)

OriGene Purified Recombinant Human Proteins (see all 2): BDNF

2 Gene Ontology (GO) cellular component terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005576	extracellular region	IEA	--
GO:0016023	cytoplasmic membrane-bounded vesicle	IEA	--

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Antibodies for BDNF:

	Browse Antibodies Central at Invitrogen
	Millipore Mono- and Polyclonal Antibodies for the study of BDNF
	Sigma-Aldrich Antibodies for BDNF
	R&D Systems Antibodies for BDNF
	Cell Signaling Technology (CST) Antibodies for BDNF
	Antibodies from Abcam (BDNF, proBDNF), each with their Abpromise^SM
	Monoclonal and Polyclonal Antibodies from Abnova (BDNF)
	Novus Biologicals Antibodies for BDNF

Assays for BDNF:

	Browse Invitrogen for biochemical assays
	Millipore Kits and Assays for the Analysis of BDNF
	R&D Systems ELISAs for BDNF (see all)
	Browse biochemical assays available from Enzo Life Sciences

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

Graphical View of Domain Structure for InterPro Entry P23560

ProtoNet protein and cluster: P23560

1 Blocks protein family: IPB002072 Nerve growth factor

UniProtKB/Swiss-Prot: BDNF_HUMAN, P23560

Similarity: Belongs to the NGF-beta family

(According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (BDNF)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (BDNF)

OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 18): NM_001143805

Applied Biosystems Silencer® siRNAs for BDNF

Sigma-Aldrich siRNA and siRNA Panels for BDNF

Sigma-Aldrich shRNA for BDNF

Explore Sigma-Aldrich super-pooled esiRNAs

Clones:		Invitrogen Clones for BDNF
		Browse Clones for the Expression of Recombinant Proteins Available from Millipore

OriGene GFP tagged cDNA clones in CMV expression vector (see all 18): NM_001143805
Myc/DDK tagged cDNA clones in CMV expression vector (see all 18): NM_001143805
untagged cDNA clones in CMV expression vector (see all 18): NM_001143805

Primers:

Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers

OriGene genome-wide validated SYBR primer pairs: NM_001143810

UniProtKB/Swiss-Prot: BDNF_HUMAN, P23560

Function: Promotes the survival of neuronal populations that are all located either in the central

nervous system or directly connected to it. 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

Genatlas biochemistry entry for BDNF:

brain-derived neurotrophic factor (neurotrophin 2) ligand for NTRK2 (TRKB),expressed in retina and

the anterior segment of the developing eye

15/17 MGI mutant phenotypes (inferred from 21 alleles) (MGI details for Bdnf) (see all 17 ):

behavior/neurological	craniofacial	digestive/alimentary	growth/size	hearing/vestibular/ear
homeostasis/metabolism	lethality-postnatal	lethality-prenatal/perinatal	life span-post-weaning/aging	nervous system
no phenotypic analysis	normal	reproductive system	respiratory system	skin/coat/nails

1 Gene Ontology (GO) molecular function term (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0008083	growth factor activity	TAS	2236018

About this table

(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to ¹UniProtKB, ²MINT, and/or ³STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

5/8 Sigma-Aldrich "Your Favorite Gene" Pathways for BDNF (Your Favorite Gene powered by Ingenuity) (see all 8 )

Neurotrophin/TRK Signaling
Human Embryonic Stem Cell Pluripotency
Huntington's Disease Signaling
Neuropathic Pain Signaling In Dorsal Horn Neurons
Corticotropin Releasing Hormone Signaling

GeneDecks BDNF for the pathways selected above

About GeneDecksing

Gene Network Central^TM Interacting Genes and Proteins Network for BDNF

5/168 Interacting proteins for BDNF (P23560^{1, 2} ENSP00000320002³) via UniProtKB, MINT, and/or STRING (see all 168 )

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
NTF3	P20783¹^,², ENSP00000328738³	EBI-1026003, EBI-1025994 MINT-24751 EBI-1026003, EBI-1025994 MINT-24751 STRING (score=.989)
NTF3	P20783¹^,², ENSP00000328738³	EBI-1026003, EBI-1025994 MINT-24751 EBI-1026003, EBI-1025994 MINT-24751 STRING (score=.989)
NTF3	P20783¹^,², ENSP00000328738³	EBI-1026003, EBI-1025994 MINT-24751 EBI-1026003, EBI-1025994 MINT-24751 STRING (score=.989)
NGFR	ENSP00000172229³	STRING (score=.999)
NTRK2	ENSP00000365387³	STRING (score=.999)

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5/20 Gene Ontology (GO) biological process terms (links to tree view) (see all 20 ):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001657	ureteric bud development	IEA	--
GO:0006916	anti-apoptosis	IEA	--
GO:0007406	negative regulation of neuroblast proliferation	IEA	--
GO:0007411	axon guidance	IEA	--
GO:0007412	axon target recognition	IEA	--

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(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

Browse drugs & compounds from Enzo Life Sciences

Browse Small Molecules at Sigma-Aldrich

Compounds for BDNF available from Tocris Bioscience

Compound	Action	CAS number
BDNF (human)	Activates TrkB and p75 receptors	[218441-99-7]

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10/60 Novoseek chemical compound relationships for BDNF gene (see all 60 )

Compound	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
tyrosine	72.97	222	9645956 (4), 10486198 (4), 15519688 (3), 10777780 (2) (see all 99)
propargylamine	55.08	1	16148027 (1)
axokine	53.49	4	10235570 (2), 9501871 (1)
phosphatidylinositol	44.42	34	10428047 (4), 12488453 (2), 15169782 (2), 8348325 (1) (see all 24)
c 172	43.91	4	16412313 (2), 18846424 (1)
pd 98,059	42.75	14	18315925 (2), 18390540 (2), 9677306 (1), 11880483 (1) (see all 10)
mhpg	38.29	25	17459549 (5), 18160197 (3), 18781277 (2), 16626841 (1) (see all 6)
quinolinic acid	36.10	8	10964490 (2), 15698628 (1), 8764649 (1), 11150327 (1) (see all 6)
lithium	31.61	45	17373693 (5), 19276559 (5), 18787660 (5), 16025419 (3) (see all 18)
forskolin	27.66	20	15464216 (3), 9802422 (2), 17460897 (2), 12807435 (1) (see all 13)

About this table

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (BDNF)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (BDNF)

OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 18): NM_001143805

Sigma-Aldrich siRNA and siRNA Panels for BDNF

Sigma-Aldrich shRNA for BDNF

Explore Sigma-Aldrich super-pooled esiRNAs

Applied Biosystems Silencer® siRNAs:

NM_001143805 NM_001143806 NM_001143807 NM_001143808 NM_001143809 NM_001143810 NM_001143811 NM_001143812

NM_001143813 NM_001143814 NM_001143815 NM_001143816 NM_001709 NM_170731 NM_170732 NM_170733

NM_170734 NM_170735

REFSEQ mRNAs for BDNF gene (18 alternative transcripts):

NM_001143805.1 NM_001143806.1 NM_001143807.1 NM_001143808.1 NM_001143809.1 NM_001143810.1 NM_001143811.1 NM_001143812.1

NM_001143813.1 NM_001143814.1 NM_001143815.1 NM_001143816.1 NM_001709.4 NM_170731.4 NM_170732.4 NM_170733.3

NM_170734.3 NM_170735.5

Applied Biosystems TaqMan ® Gene Expression Assays:

NM_001709 NM_170731 NM_170732 NM_170733 NM_170734 NM_170735

               OriGene GFP tagged cDNA clones in CMV expression vector (see all 18): NM_001143805
                                 Myc/DDK tagged cDNA clones in CMV expression vector (see all 18): NM_001143805
                                 untagged cDNA clones in CMV expression vector (see all 18): NM_001143805

Additional cDNA sequence:

AB038670.1 AB038671.1 AB038672.1 AB038673.1 AB038674.1 AF400438.1 AK289763.1 AK289853.1

AY054392.2 AY054393.2 AY054394.2 AY054395.2 AY054396.2 AY054397.2 AY054398.2 AY054399.2

AY054400.2 AY054406.3 AY442188.1 AY656701.1 BC029795.1 CR616691.1 DQ250642.1 EF674517.1

EF674518.1 EF674519.1 EF674520.1 EF674521.1 EF689009.1 EF689010.1 EF689011.1 EF689012.1

EF689013.1 EF689014.1 EF689015.1 EF689016.1 EF689017.1 EF689018.1 EF689019.1 EF689020.1

EF689021.1 M61176.1 X60201.1 X91251.1

14 DOTS entries:

DT.95167621 DT.411992 DT.95167624 DT.95337925 DT.95167619 DT.91653427 DT.95167620 DT.91753544

DT.100794512 DT.100794510 DT.100794513 DT.100008355 DT.120745545 DT.40291086

6 AceView cDNA sequences:

AY513486 BG707452 AY054402 AY054404 AY054401 BG707369

highest scoring ESTs for BDNF:

AB038670 AI990480 AY054392 AY442188 M61176 X60201 AA234298 AA262988 AA318537 AA905721

Unigene Cluster for BDNF:

Brain-derived neurotrophic factor

Hs.502182 [show with all ESTs]

Unigene Representative Sequence: EF689009

GeneLoc Exon Structure

5/10 Alternative Splicing Database (ASD) splice patterns (SP) for BDNF (see all 10 )

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

About this scheme

ECgene alternative splicing isoforms for BDNF

7 Ensembl transcripts including schematic representations:

ENST00000395980 ENST00000395981 ENST00000356660 ENST00000395978 ENST00000395983 ENST00000395986

ENST00000314915

(Experimental results according to ¹GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to ²GeneAnnot , ³GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems )
About This Section

BDNF expression in normal and diseased human tissues

Applied Biosystems TaqMan ® Gene Expression Assays for BDNF

¹ / ² / ³

8 probe-sets matching BDNF gene

Affymetrix probe-set	Array	# genes	Sensitivity	Specificity	Correlation	Length	Gb_Accession	Consensus	Uniqueness	Score	Rank
Affymetrix probe-set	Array	GeneAnnot data			GeneNote data		GeneTide data
82966_at²^{, 3}	U95-E	1	1.00	1.00	0.95	1.51	AI990480	0.80	1.00	0.91	1
40023_at²^{, 3}	U95-A	1	1.00	1.00	0.71	0.62	X60201	0.80	1.00	0.91	1
1088_at²^{, 3}	U95-A	1	1.00	1.00	0.96	0.57	M61176	0.80	1.00	0.91	1
239367_at²^{, 3}	U133-B	1	1.00	1.00	--	--	AI127530	0.60	1.00	0.82	1
206382_s_at²^{, 3}	U133-A	1	1.00	1.00	--	--	NM_001709	0.60	1.00	0.82	1
239367_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
206382_s_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
1565265_at*²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--

GeneDecks BDNF for binary patterns associated with the probe-sets selected above

About GeneDecksing

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Data from

(Publications) and GNF BioGPS
About these images
About these images

CGAP SAGE TAG: --

SOURCE GeneReport for Unigene cluster: Hs.502182
Expression variation in blood from EXPOLDB for BDNF

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD and/or ⁵MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section

Orthologs for BDNF gene from 5/8 species (see all 8 )

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
dog (Canis familiaris)	BDNF¹	--	brain-derived neurotrophic factor	93.66(n) 98.38(a)	403461 XM_850457.1 XP_855550.1
chimpanzee (Pan troglodytes)	BDNF¹	--	brain-derived neurotrophic factor	99.46(n) 100(a)	503511 NM_001012441.1 NP_001012443.1
cow (Bos taurus)	BDNF¹	--	brain-derived neurotrophic factor	92.17(n) 97.17(a)	617701 NM_001046607.1 NP_001040072.1
rat (Rattus norvegicus)	Bdnf¹	--	brain derived neurotrophic factor	92.04(n) 97.57(a)	24225 NM_012513.2 NP_036645.1
mouse (Mus musculus)	Bdnf^{1, 5}	2 (62.00 cM)⁵	brain derived neurotrophic factor^{1, 5}	92.29(n)¹ 97.65(a)¹	12064¹ NM_007540.4¹ NP_031566.4¹ AF459642⁵ AK017559⁵ (see all 31)

About this table Species with no ortholog for BDNF

ENSEMBL Gene Tree for BDNF

(Paralogs according to ¹HomoloGene
and ²Ensembl, Pseudogenes according to ³Pseudogene.org)
About This Section

Paralogs for BDNF gene

NTF6B² NTF4² NTF3² NGF²

(According to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
About This Section

UniProtKB/Swiss-Prot: BDNF_HUMAN, P23560

Polymorphism: Variations in BDNF are associated with susceptibility to bulimia nervosa 2 (BULN2)

[MIM:610269]. Several genes with an essential role in the regulation of eating behavior and body

weight are considered candidates involved in the etiology of eating disorders (ED), but no

relevant susceptibility genes with a major effect on anorexia nervosa (AN) or bulimia nervosa (BN)

have been identified. BDNF has been implicated in the regulation of food intake and body weight in

rodents. A strong association has been reported of the Met-66 allele of the Val-66-Met BDNF

variant with restricting AN (ANR) and low minimum body mass index in Spanish patients. Met-66

variant is strongly associated to all ED subtypes (AN, ANR, binge-eating/purging AN and BN) in

European patients. Another single nucleotide polymorphism located in the promoter region of the

BDNF gene showed an effect on BN and late age at onset of weight loss. These are two variants

associated with the pathophysiology of ED in different populations. These variants support a role

for BDNF in the susceptibility to aberrant eating behaviors

10/316 NCBI SNPs in BDNF are shown (see all 316 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay) (see all 98)

AB	SNP ID	Valid	Chr 11 pos	Sequence	Recs	AA Chg	Type	More	Recs	Pop	Total sample	More
AB	Genomic Data				Transcription Data				Allele Frequencies
				--	--	--		--	--			--
	rs6265^1,2	A,C,F,H,O	27636492(-)	`AACACG/ATGATA`	6	M/V	mis¹		21	MN EU EA WA NA	1978
	rs988748^1,2	A,C,F,H	27681321(-)	`GGTCTC/GTGGGG`	3	--	ng3¹ int¹		5	MN EU EA WA	596
	rs11030101^1,2	A,C,F,H	27637320(+)	`AAGAAA/TGATAA`	6	--	ng3¹ int¹ trp³		11	NA EU EA WA	978
	rs2049046^1,2	A,C,F,H	27680351(-)	`cagggA/Tctcca`	4	--	ng3¹ int¹		5	EU EA WA NA	477
	rs7124442^1,2	A,C,F,H	27633617(+)	`ACATAT/CAGCAG`	6	--	ut3¹ ese³		4	EU EA WA	412
	rs925948^1,2	C,F,H	27637280(+)	`TTTTTT/CCCTCT`	6	--	ng3¹ int¹ trp³		11	NA EA EU WA	694
	rs11030102^1,2	C,F,H	27638172(+)	`ATGGAC/GTTACA`	6	--	int¹ ng3¹		15	NA EU EA WA	1396
	rs12273363^1,2	C,F,H	27701435(+)	`GAAGAT/CGGTGG`	1	--	ng3¹		10	EU EA WA NA	1009
	rs11819808^1,2	C,F,H	27637964(+)	`TGGCTC/TTACAT`	6	--	ng3¹ int¹		5	EU EA WA NA	510
	rs3750934^1,2	C,F,H	27636771(+)	`ATGCCA/GTGTGG`	6	--	int¹ ut5¹		5	EA EU WA	1904

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HapMap Linkage Disequilibrium images for BDNF (up to first 250kb)

(in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
About This Section

OMIM: 113505

UniProtKB/Swiss-Prot: BDNF_HUMAN, P23560

Defects in BDNF are a cause of congenital central hypoventilation syndrome (CCHS)

[MIM:209880]; also known as congenital failure of autonomic control or Ondine curse. CCHS is a

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. CCHS is frequently complicated with neurocristopathies such as Hirschsprung disease

that occurs in about 16% of CCHS cases

Haploinsufficiency of BDNF is strongly associated with Wilms tumor, aniridia,

genitourinary anomalies, mental retardation, and obesity syndrome (WAGRO) [MIM:612469]. In a

subgroup of individuals with the WAGR syndrome, obesity develops. The phenotype in this subset is

associated with haploinsufficiency for the BDNF gene

10/92 Novoseek disease relationships for BDNF gene (see all 92 )

Disease	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
neurodegenerative diseases	69.47	36	8197193 (1), 7523178 (1), 9523590 (1), 11211839 (1) (see all 32)
bipolar disorder	66.90	98	17012654 (5), 17464718 (5), 16568151 (4), 16388065 (3) (see all 51)
mood disorders	63.14	74	15145621 (5), 15626819 (3), 14673216 (3), 17920693 (2) (see all 46)
major depression	62.15	80	15291244 (4), 18406398 (4), 18329817 (3), 16905274 (3) (see all 46)
schizophrenia	61.20	215	15276697 (6), 17464718 (5), 19270464 (4), 14583394 (4) (see all 99)
alzheimers disease	60.54	99	12456067 (3), 12654514 (3), 12358753 (3), 16362629 (3) (see all 62)
huntington disease	58.83	30	18093249 (2), 17096834 (2), 18323792 (2), 17427191 (2) (see all 24)
rett syndrome	55.18	14	19349604 (3), 16996699 (2), 19096215 (1), 16446133 (1) (see all 10)
wagr syndrome	52.98	6	18753648 (4), 7527372 (1)
neurodegeneration	52.47	19	10867782 (1), 17990049 (1), 15262269 (1), 15635706 (1) (see all 13)

About this table

Human Gene Mutation Database: BDNF
Genetic Association Database: BDNF
Human Genome Epidemiology Navigator: BDNF (294 documents)

(Possibly Related Articles in Doctor's Guide)
About This Section

(in PubMed. Associations of this gene to articles via ¹Novoseek, ²HGNC, ³Entrez Gene, ⁴UniProtKB/Swiss-Prot, ⁵UniProtKB/TrEMBL, ⁶GAD, and/or ⁷PharmGKB)
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10/1596 PubMed articles for BDNF gene (see all 1596 ):

Human and rat brain-derived neurotrophic factor and neurotrophin-3: gene structures, distributions, and chromosomal localizations. (PubMed id 1889806)^{1, 2, 3, 4} Maisonpierre P.C....Yancopoulos G.D. (1991)
Sequence variants of the brain-derived neurotrophic factor (BDNF) gene are strongly associated with obsessive-compulsive disorder. (PubMed id 12836135)^{1, 3, 4, 6} Hall D.... Karayiorgou M. (2003)
Association of BDNF with anorexia, bulimia and age of onset of weight loss in six European populations. (PubMed id 15115760)^{3, 4, 6} Ribases M.... Estivill X. (2004)
Molecular cloning of a human gene that is a member of the nerve growth factor family. (PubMed id 2236018)^{2, 3, 4} Jones K.R. and Reichardt L.F. (1990)
Decreased levels of BDNF protein in Alzheimer temporal cortex are independent of BDNF polymorphisms. (PubMed id 15899246)^{1, 3, 6} Lee J....Ingelsson M. (2005)
Brain-derived neurotrophic factor and obesity in the WAGR syndrome. (PubMed id 18753648)^{1, 3, 4} Han J.C....Yanovski J.A. (2008)
Genetic analysis of BDNF and TrkB gene polymorphisms in Alzheimer's disease. (PubMed id 15726264)^{1, 3, 6} Vepsalainen S....Hiltunen M. (2005)
Genetic variation of brain-derived neurotrophic factor (BDNF) in bipolar disorder: case-control study of over 3000 individuals from the UK. (PubMed id 16388065)^{1, 3, 6} Green E.K....Craddock N. (2006)
BDNF gene is a risk factor for schizophrenia in a Scottish population. (PubMed id 15630410)^{1, 3, 6} Neves-Pereira M....St Clair D.M. (2005)
No association of the brain-derived neurotrophic factor (BDNF) gene C-270T polymorphism with schizophrenia. (PubMed id 15949651)^{1, 3, 6} Szczepankiewicz A....Hauser J. (2005)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Free Text

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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
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Entrez Gene: 627	HGNC: 1033	AceView: BDNF.1	Ensembl:ENSG00000176697	euGenes: HUgn627
ECgene: BDNF	H-InvDB: BDNF

(According to HUGE)
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(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
Wikipedia	http://en.wikipedia.org/wiki/Brain-derived_neurotrophic_factor

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(Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
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Products for BDNF:

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BDNF Gene

protein-coding GIFtS: 69

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Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

BDNF Gene

protein-coding GIFtS: 69

Aliases & Descriptionsfor BDNF

Summariesfor BDNF

Genomic Locationfor BDNF

Proteinsfor BDNF

Protein Domains/Familiesfor BDNF

Gene Functionfor BDNF

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Medical Newsfor BDNF

Publicationsfor BDNF

Search for BDNF

Genome Databases showing BDNF

Other Databases showing BDNF

Specialized Databases showing BDNF

Licensable Technologiesfor BDNF

Servicesfor BDNF

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Aliases &
Descriptions
for BDNF

Summaries
for BDNF

Genomic Location
for BDNF

Proteins
for BDNF

Protein Domains/
Families
for BDNF

Gene Function
for BDNF

Pathways & Interactions
for BDNF

Drugs & Compounds
for BDNF

Transcripts
for BDNF

Expression
for BDNF

Orthologs
for BDNF

Paralogs
for BDNF

SNPs/Variants
for BDNF

Disorders & Mutations
for BDNF

Medical News
for BDNF

Publications
for BDNF

Licensable Technologies
for BDNF

Services
for BDNF