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P23560 (BDNF_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 154. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Brain-derived neurotrophic factor

Short name=BDNF
Alternative name(s):
Abrineurin
Gene names
Name:BDNF
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length247 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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. Ref.26

Subunit structure

Monomers and homodimers. Binds to NTRK2/TRKB.

Subcellular location

Secreted.

Tissue specificity

Brain. Highly expressed in hippocampus, amygdala, cerebral cortex and cerebellum. Also expressed in heart, lung, skeletal muscle, testis, prostate and placenta. Ref.5

Post-translational modification

The propeptide is N-glycosylated and glycosulfated.

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

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.

Involvement in disease

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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.24

Sequence similarities

Belongs to the NGF-beta family.

Ontologies

Keywords
   Cellular componentSecreted
   Coding sequence diversityAlternative promoter usage
Alternative splicing
Polymorphism
   DiseaseDisease mutation
   DomainSignal
   Molecular functionGrowth factor
   PTMCleavage on pair of basic residues
Disulfide bond
Glycoprotein
   Technical term3D-structure
Complete proteome
Direct protein sequencing
Reference proteome
Gene Ontology (GO)
   Biological_processaxon guidance

Inferred from electronic annotation. Source: Ensembl

axon target recognition

Inferred from electronic annotation. Source: Ensembl

behavioral fear response

Inferred from electronic annotation. Source: Ensembl

chronic inflammatory response

Inferred from electronic annotation. Source: Ensembl

dendrite development

Inferred from electronic annotation. Source: Ensembl

feeding behavior

Inferred from electronic annotation. Source: Ensembl

glutamate secretion

Inferred from electronic annotation. Source: Ensembl

inner ear development

Inferred from electronic annotation. Source: Ensembl

learning or memory

Inferred from electronic annotation. Source: Ensembl

mechanoreceptor differentiation

Inferred from electronic annotation. Source: Ensembl

mitochondrial electron transport, NADH to ubiquinone

Inferred from electronic annotation. Source: Ensembl

negative regulation of neuroblast proliferation

Inferred from electronic annotation. Source: Ensembl

negative regulation of neuron apoptotic process

Inferred from electronic annotation. Source: Ensembl

negative regulation of striated muscle tissue development

Inferred from electronic annotation. Source: Ensembl

nerve development

Inferred from electronic annotation. Source: Ensembl

nervous system development

Traceable author statement Ref.1. Source: ProtInc

neuron recognition

Inferred from electronic annotation. Source: Ensembl

positive regulation of long-term neuronal synaptic plasticity

Inferred from electronic annotation. Source: Ensembl

positive regulation of neuron differentiation

Inferred from electronic annotation. Source: Ensembl

positive regulation of synapse assembly

Inferred from direct assay PubMed 19036963. Source: BHF-UCL

regulation of excitatory postsynaptic membrane potential

Inferred from electronic annotation. Source: Ensembl

regulation of metabolic process

Inferred from electronic annotation. Source: Ensembl

regulation of retinal cell programmed cell death

Inferred from electronic annotation. Source: Ensembl

regulation of short-term neuronal synaptic plasticity

Inferred from electronic annotation. Source: Ensembl

response to anesthetic

Inferred from electronic annotation. Source: Ensembl

response to fluoxetine

Inferred from electronic annotation. Source: Ensembl

response to hormone

Inferred from electronic annotation. Source: Ensembl

response to hyperoxia

Inferred from electronic annotation. Source: Ensembl

response to hypoxia

Inferred from electronic annotation. Source: Ensembl

response to vitamin A

Inferred from electronic annotation. Source: Ensembl

ureteric bud development

Inferred from electronic annotation. Source: Ensembl

   Cellular_componentcytoplasm

Inferred from sequence or structural similarity. Source: UniProtKB

extracellular region

Inferred from electronic annotation. Source: UniProtKB-SubCell

perinuclear region of cytoplasm

Inferred from sequence or structural similarity. Source: UniProtKB

synaptic vesicle

Inferred from electronic annotation. Source: Ensembl

   Molecular_functiongrowth factor activity

Traceable author statement Ref.1. Source: ProtInc

Complete GO annotation...

Binary interactions

With

Entry

#Exp.

IntAct

Notes

NTF3P207831EBI-1026003,EBI-1025994

Alternative products

This entry describes 5 isoforms produced by alternative promoter usage and alternative splicing. [Align] [Select]

Note: 2 types of transcripts are produced: non-coding transcripts (antisense, opposite strand (OS), 8 exons) and coding transcripts (11 exons). Brain BDNF and anti-BDNF transcripts form dsRNA duplexes.
Isoform 1 (identifier: P23560-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
Isoform 2 (identifier: P23560-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MFHQVRRVM
Isoform 3 (identifier: P23560-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MQSREEEWFHQVRRVM
Isoform 4 (identifier: P23560-4)

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MCGATSFLHE...IKFHQVRRVM
Isoform 5 (identifier: P23560-5)

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MLCAISLCARVRKLRSAGRCGKFHQVRRVM

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 1818 Potential
Propeptide19 – 128110
PRO_0000019633
Chain129 – 247119Brain-derived neurotrophic factor
PRO_0000019634

Sites

Site57 – 582Cleavage; by S1P

Amino acid modifications

Glycosylation1211N-linked (GlcNAc...)
Disulfide bond141 ↔ 208
Disulfide bond186 ↔ 237
Disulfide bond196 ↔ 239

Natural variations

Alternative sequence11M → MFHQVRRVM in isoform 2.
VSP_037948
Alternative sequence11M → MQSREEEWFHQVRRVM in isoform 3.
VSP_038099
Alternative sequence11M → MCGATSFLHECTRLILVTTQ NAEFLQKGLQVHTCFGVYPH ASVWHDCASQKKGCAVYLHV SVEFNKLIPENGFIKFHQVR RVM in isoform 4.
VSP_038100
Alternative sequence11M → MLCAISLCARVRKLRSAGRC GKFHQVRRVM in isoform 5.
VSP_038101
Natural variant21T → I in CCHS. Ref.24
Corresponds to variant rs8192466 [ dbSNP | Ensembl ].
VAR_018260
Natural variant661V → M Polymorphism that impairs localization to secretory granules or synapses; associated with poorer episodic memory; may have a protective effect in obsessive-compulsive disorder. Ref.8 Ref.22 Ref.25 Ref.26 Ref.27 Ref.28
Corresponds to variant rs6265 [ dbSNP | Ensembl ].
VAR_004626
Natural variant751Q → H.
Corresponds to variant rs1048218 [ dbSNP | Ensembl ].
VAR_011797
Natural variant1251R → M.
Corresponds to variant rs1048220 [ dbSNP | Ensembl ].
VAR_011798
Natural variant1271R → L.
Corresponds to variant rs1048221 [ dbSNP | Ensembl ].
VAR_011799

Experimental info

Mutagenesis541R → A: Abolishes processing by S1P. Ref.17

Secondary structure

....................... 247
Helix Strand Turn

Details...

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified November 1, 1991. Version 1.
Checksum: 0A60488254722A99

FASTA24727,818
        10         20         30         40         50         60 
MTILFLTMVI SYFGCMKAAP MKEANIRGQG GLAYPGVRTH GTLESVNGPK AGSRGLTSLA 

        70         80         90        100        110        120 
DTFEHVIEEL LDEDQKVRPN EENNKDADLY TSRVMLSSQV PLEPPLLFLL EEYKNYLDAA 

       130        140        150        160        170        180 
NMSMRVRRHS DPARRGELSV CDSISEWVTA ADKKTAVDMS GGTVTVLEKV PVSKGQLKQY 

       190        200        210        220        230        240 
FYETKCNPMG YTKEGCRGID KRHWNSQCRT TQSYVRALTM DSKKRIGWRF IRIDTSCVCT 


LTIKRGR 

« Hide

Isoform 2 [UniParc].

Checksum: 0E3881F4944CA23C
Show »

FASTA25528,872
Isoform 3 [UniParc].

Checksum: 28DDC6F9E19BC727
Show »

FASTA26229,817
Isoform 4 [UniParc].

Checksum: 5D19D9F2F62588FA
Show »

FASTA32937,120
Isoform 5 [UniParc].

Checksum: B7B42AA52E6C1A9C
Show »

FASTA27631,116

References

« Hide 'large scale' references
[1]"Molecular cloning of a human gene that is a member of the nerve growth factor family."
Jones K.R., Reichardt L.F.
Proc. Natl. Acad. Sci. U.S.A. 87:8060-8064(1990) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], ALTERNATIVE SPLICING (ISOFORM 1).
[2]"Human and rat brain-derived neurotrophic factor and neurotrophin-3: gene structures, distributions, and chromosomal localizations."
Maisonpierre P.C., le Beau M.M., Espinosa R. III, Ip N.Y., Belluscio L., de la Monte S.M., Squinto S., Furth M.E., Yancopoulos G.D.
Genomics 10:558-568(1991) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 1).
[3]"Characterization of the 5'-flanking region of the human brain-derived neurotrophic factor gene."
Shintani A., Ono Y., Kaisho Y., Igarashi K.
Biochem. Biophys. Res. Commun. 182:325-332(1992) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
[4]"Human brain derived neurotrophic factor (BDNF) genes, splicing patterns, and assessments of associations with substance abuse and Parkinson's Disease."
Liu Q.-R., Walther D., Drgon T., Polesskaya O., Lesnick T.G., Strain K.J., de Andrade M., Bower J.H., Maraganore D.M., Uhl G.R.
Am. J. Med. Genet. B Neuropsychiatr. Genet. 134:93-103(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORMS 1; 2 AND 3), ALTERNATIVE SPLICING.
[5]"Dissecting the human BDNF locus: bidirectional transcription, complex splicing, and multiple promoters."
Pruunsild P., Kazantseva A., Aid T., Palm K., Timmusk T.
Genomics 90:397-406(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 2; 3; 4 AND 5), ALTERNATIVE SPLICING, ALTERNATIVE PROMOTER USAGE, TISSUE SPECIFICITY.
Tissue: Brain.
[6]"A cDNA clone of human brain-derived neurotrophic factor (HUMBDNFD)."
Cheng Y., Gu J.
Submitted (MAY-1995) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
[7]Wu J., Zhang B., Zhou Y., Peng X., Yuan J., Qiang B.
Submitted (JUL-2001) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
[8]Perez-Pinera P., Gonzalez-Martinez T., Garcia-Suarez O., Perez-Perez M., Esteban I., Monjil D., Vega J.A.
Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT MET-66.
[9]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
Tissue: Brain.
[10]"Human chromosome 11 DNA sequence and analysis including novel gene identification."
Taylor T.D., Noguchi H., Totoki Y., Toyoda A., Kuroki Y., Dewar K., Lloyd C., Itoh T., Takeda T., Kim D.-W., She X., Barlow K.F., Bloom T., Bruford E., Chang J.L., Cuomo C.A., Eichler E., FitzGerald M.G. expand/collapse author list , Jaffe D.B., LaButti K., Nicol R., Park H.-S., Seaman C., Sougnez C., Yang X., Zimmer A.R., Zody M.C., Birren B.W., Nusbaum C., Fujiyama A., Hattori M., Rogers J., Lander E.S., Sakaki Y.
Nature 440:497-500(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[11]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[12]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[13]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
Tissue: Brain.
[14]"Evolutionary studies of the nerve growth factor family reveal a novel member abundantly expressed in Xenopus ovary."
Hallboeoek F., Ibanez C.F., Persson H.
Neuron 6:845-858(1991) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 185-227.
Tissue: Leukocyte.
[15]"Purification and identification of brain-derived neurotrophic factor from human serum."
Rosenfeld R.D., Zeni L., Haniu M., Talvenheimo J., Radka S.F., Bennett L., Miller J.A., Welcher A.A.
Protein Expr. Purif. 6:465-471(1995) [PubMed] [Europe PMC] [Abstract]
Cited for: PROTEIN SEQUENCE OF 129-144.
Tissue: Serum.
[16]"Molecular phylogenetics and the origins of placental mammals."
Murphy W.J., Eizirik E., Johnson W.E., Zhang Y.-P., Ryder O.A., O'Brien S.J.
Nature 409:614-618(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 12-197.
[17]"Biosynthesis and post-translational processing of the precursor to brain-derived neurotrophic factor."
Mowla S.J., Farhadi H.F., Pareek S., Atwal J.K., Morris S.J., Seidah N.G., Murphy R.A.
J. Biol. Chem. 276:12660-12666(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: CHARACTERIZATION, MUTAGENESIS OF ARG-54.
[18]"Association of BDNF with anorexia, bulimia and age of onset of weight loss in six European populations."
Ribases M., Gratacos M., Fernandez-Aranda F., Bellodi L., Boni C., Anderluh M., Cavallini M.C., Cellini E., Di Bella D., Erzegovesi S., Foulon C., Gabrovsek M., Gorwood P., Hebebrand J., Hinney A., Holliday J., Hu X., Karwautz A. expand/collapse author list , Kipman A., Komel R., Nacmias B., Remschmidt H., Ricca V., Sorbi S., Wagner G., Treasure J., Collier D.A., Estivill X.
Hum. Mol. Genet. 13:1205-1212(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: POLYMORPHISM, ASSOCIATION WITH BULIMIA NERVOSA.
[19]"Brain-derived neurotrophic factor and obesity in the WAGR syndrome."
Han J.C., Liu Q.-R., Jones M., Levinn R.L., Menzie C.M., Jefferson-George K.S., Adler-Wailes D.C., Sanford E.L., Lacbawan F.L., Uhl G.R., Rennert O.M., Yanovski J.A.
N. Engl. J. Med. 359:918-927(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN WAGRO SYNDROME.
[20]Erratum
Han J.C., Liu Q.-R., Jones M., Levinn R.L., Menzie C.M., Jefferson-George K.S., Adler-Wailes D.C., Sanford E.L., Lacbawan F.L., Uhl G.R., Rennert O.M., Yanovski J.A.
N. Engl. J. Med. 359:1414-1414(2008)
[21]"Structure of the brain-derived neurotrophic factor/neurotrophin 3 heterodimer."
Robinson R.C., Radziejewski C., Stuart D.I., Jones E.Y.
Biochemistry 34:4139-4146(1995) [PubMed] [Europe PMC] [Abstract]
Cited for: X-RAY CRYSTALLOGRAPHY (2.3 ANGSTROMS).
[22]"Characterization of single-nucleotide polymorphisms in coding regions of human genes."
Cargill M., Altshuler D., Ireland J., Sklar P., Ardlie K., Patil N., Shaw N., Lane C.R., Lim E.P., Kalyanaraman N., Nemesh J., Ziaugra L., Friedland L., Rolfe A., Warrington J., Lipshutz R., Daley G.Q., Lander E.S.
Nat. Genet. 22:231-238(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT MET-66.
[23]Erratum
Cargill M., Altshuler D., Ireland J., Sklar P., Ardlie K., Patil N., Shaw N., Lane C.R., Lim E.P., Kalyanaraman N., Nemesh J., Ziaugra L., Friedland L., Rolfe A., Warrington J., Lipshutz R., Daley G.Q., Lander E.S.
Nat. Genet. 23:373-373(1999)
[24]"Idiopathic congenital central hypoventilation syndrome: evaluation of brain-derived neurotrophic factor genomic DNA sequence variation."
Weese-Mayer D.E., Bolk S., Silvestri J.M., Chakravarti A.
Am. J. Med. Genet. 107:306-310(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT CCHS ILE-2.
[25]"Sequence variants of the brain-derived neurotrophic factor (BDNF) gene are strongly associated with obsessive-compulsive disorder."
Hall D., Dhilla A., Charalambous A., Gogos J.A., Karayiorgou M.
Am. J. Hum. Genet. 73:370-376(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT MET-66, ROLE OF VARIANT MET-66 IN OBSESSIVE-COMPULSIVE DISORDER.
[26]"The BDNF val66met polymorphism affects activity-dependent secretion of BDNF and human memory and hippocampal function."
Egan M.F., Kojima M., Callicott J.H., Goldberg T.E., Kolachana B.S., Bertolino A., Zaitsev E., Gold B., Goldman D., Dean M., Lu B., Weinberger D.R.
Cell 112:257-269(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT MET-66, CHARACTERIZATION OF VARIANT MET-66, ROLE IN EPISODIC MEMORY.
[27]"Molecular analysis of congenital central hypoventilation syndrome."
Sasaki A., Kanai M., Kijima K., Akaba K., Hashimoto M., Hasegawa H., Otaki S., Koizumi T., Kusuda S., Ogawa Y., Tuchiya K., Yamamoto W., Nakamura T., Hayasaka K.
Hum. Genet. 114:22-26(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT MET-66.
[28]"Met66 in the brain-derived neurotrophic factor (BDNF) precursor is associated with anorexia nervosa restrictive type."
Ribases M., Gratacos M., Armengol L., de Cid R., Badia A., Jimenez L., Solano R., Vallejo J., Fernandez F., Estivill X.
Mol. Psychiatry 8:745-751(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT MET-66, ASSOCIATION OF VARIANT MET-66 WITH ANR.
+Additional computationally mapped references.

Web resources

Wikipedia

BDNF entry

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
M37762 Genomic DNA. Translation: AAA51820.1.
M61176 mRNA. Translation: AAA69805.2.
M61181 Genomic DNA. Translation: AAA96140.1.
X60201 mRNA. Translation: CAA42761.1.
AY054392 mRNA. Translation: AAL23557.2.
AY054393 mRNA. Translation: AAL23558.1.
AY054394 mRNA. Translation: AAL23559.1.
AY054395 mRNA. Translation: AAL23560.1.
AY054396 mRNA. Translation: AAL23561.1.
AY054397 mRNA. Translation: AAL23562.1.
AY054398 mRNA. Translation: AAL23563.1.
AY054399 mRNA. Translation: AAL23564.1.
AY054400 mRNA. Translation: AAL23565.2.
AF411339 Genomic DNA. Translation: AAO15434.1.
EF674517 mRNA. Translation: ABS29021.1.
EF674518 mRNA. Translation: ABS29022.1.
EF674519 mRNA. Translation: ABS29023.1.
EF674520 mRNA. Translation: ABS29024.1.
EF674521 mRNA. Translation: ABS29025.1.
EF689009 mRNA. Translation: ABS32249.1.
EF689010 mRNA. Translation: ABS32250.1.
EF689011 mRNA. Translation: ABS32251.1.
EF689012 mRNA. Translation: ABS32252.1.
EF689013 mRNA. Translation: ABS32253.1.
EF689014 mRNA. Translation: ABS32254.1.
EF689015 mRNA. Translation: ABS32255.1.
EF689016 mRNA. Translation: ABS32256.1.
EF689017 mRNA. Translation: ABS32257.1.
EF689018 mRNA. Translation: ABS32258.1.
EF689019 mRNA. Translation: ABS32259.1.
EF689020 mRNA. Translation: ABS32260.1.
EF689021 mRNA. Translation: ABS32261.1.
X91251 mRNA. Translation: CAA62632.1.
AF400438 mRNA. Translation: AAK92487.1.
AY656701 mRNA. Translation: AAT74399.1.
AK289853 mRNA. Translation: BAF82542.1.
AK289763 mRNA. Translation: BAF82452.1.
AC104563 Genomic DNA. No translation available.
CH471064 Genomic DNA. Translation: EAW68274.1.
CH471064 Genomic DNA. Translation: EAW68278.1.
CH471064 Genomic DNA. Translation: EAW68279.1.
CH471064 Genomic DNA. Translation: EAW68275.1.
CH471064 Genomic DNA. Translation: EAW68276.1.
CH471064 Genomic DNA. Translation: EAW68277.1.
BC029795 mRNA. Translation: AAH29795.1.
AY011481 Genomic DNA. Translation: AAG47514.1.
PIRA40304. B36208.
RefSeqNP_001137277.1. NM_001143805.1.
NP_001137278.1. NM_001143806.1.
NP_001137279.1. NM_001143807.1.
NP_001137280.1. NM_001143808.1.
NP_001137281.1. NM_001143809.1.
NP_001137282.1. NM_001143810.1.
NP_001137283.1. NM_001143811.1.
NP_001137284.1. NM_001143812.1.
NP_001137285.1. NM_001143813.1.
NP_001137286.1. NM_001143814.1.
NP_001137288.1. NM_001143816.1.
NP_001700.2. NM_001709.4.
NP_733927.1. NM_170731.4.
NP_733928.1. NM_170732.4.
NP_733929.1. NM_170733.3.
NP_733930.1. NM_170734.3.
NP_733931.1. NM_170735.5.
UniGeneHs.502182.

3D structure databases

PDBe
RCSB PDB
PDBj
EntryMethodResolution (Å)ChainPositionsPDBsum
1B8MX-ray2.75A129-247[»]
1BNDX-ray2.30A129-247[»]
ProteinModelPortalP23560.
SMRP23560. Positions 136-244.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid107096. 8 interactions.
DIPDIP-5719N.
IntActP23560. 5 interactions.
MINTMINT-1508504.

PTM databases

PhosphoSiteP23560.

Polymorphism databases

DMDM114900.

Proteomic databases

PaxDbP23560.
PRIDEP23560.

Protocols and materials databases

DNASU627.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000314915; ENSP00000320002; ENSG00000176697. [P23560-2]
ENST00000356660; ENSP00000349084; ENSG00000176697. [P23560-1]
ENST00000395978; ENSP00000379302; ENSG00000176697. [P23560-1]
ENST00000395980; ENSP00000379304; ENSG00000176697. [P23560-1]
ENST00000395981; ENSP00000379305; ENSG00000176697. [P23560-1]
ENST00000395983; ENSP00000379307; ENSG00000176697. [P23560-1]
ENST00000395986; ENSP00000379309; ENSG00000176697. [P23560-3]
ENST00000418212; ENSP00000400502; ENSG00000176697. [P23560-1]
ENST00000420794; ENSP00000389564; ENSG00000176697. [P23560-1]
ENST00000438929; ENSP00000414303; ENSG00000176697. [P23560-4]
ENST00000439476; ENSP00000389345; ENSG00000176697. [P23560-1]
ENST00000525528; ENSP00000437138; ENSG00000176697. [P23560-1]
ENST00000525950; ENSP00000432035; ENSG00000176697. [P23560-1]
ENST00000530861; ENSP00000435564; ENSG00000176697. [P23560-1]
ENST00000532997; ENSP00000435805; ENSG00000176697. [P23560-1]
ENST00000533131; ENSP00000432727; ENSG00000176697. [P23560-1]
ENST00000533246; ENSP00000432376; ENSG00000176697. [P23560-1]
GeneID627.
KEGGhsa:627.
UCSCuc001mrt.3. human. [P23560-3]
uc001mru.3. human. [P23560-1]
uc001msa.3. human. [P23560-2]
uc009yje.3. human. [P23560-4]
uc009yjf.3. human. [P23560-5]

Organism-specific databases

CTD627.
GeneCardsGC11M027676.
H-InvDBHIX0035926.
HGNCHGNC:1033. BDNF.
HPACAB009564.
HPA056104.
MIM113505. gene.
209880. phenotype.
610269. phenotype.
neXtProtNX_P23560.
Orphanet661. Ondine syndrome.
893. WAGR syndrome.
PharmGKBPA31891.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG45248.
HOVERGENHBG006494.
InParanoidP23560.
KOK04355.
OMARVGWRFI.
OrthoDBEOG7RBZ8Z.
PhylomeDBP23560.
TreeFamTF106463.

Enzyme and pathway databases

SignaLinkP23560.

Gene expression databases

ArrayExpressP23560.
BgeeP23560.
CleanExHS_BDNF.
GenevestigatorP23560.

Family and domain databases

InterProIPR020430. Brain-der_neurotrophic_factor.
IPR020408. Nerve_growth_factor-like.
IPR002072. Nerve_growth_factor-rel.
IPR019846. Nerve_growth_factor_CS.
[Graphical view]
PANTHERPTHR11589. PTHR11589. 1 hit.
PfamPF00243. NGF. 1 hit.
[Graphical view]
PIRSFPIRSF001789. NGF. 1 hit.
PRINTSPR01912. BDNFACTOR.
PR00268. NGF.
ProDomPD002052. Nerve_growth_factor-rel. 1 hit.
[Graphical view] [Entries sharing at least one domain]
SMARTSM00140. NGF. 1 hit.
[Graphical view]
PROSITEPS00248. NGF_1. 1 hit.
PS50270. NGF_2. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

EvolutionaryTraceP23560.
GeneWikiBrain-derived_neurotrophic_factor.
GenomeRNAi627.
NextBio2530.
PMAP-CutDBQ6YNR3.
PROP23560.
SOURCESearch...

Entry information

Entry nameBDNF_HUMAN
AccessionPrimary (citable) accession number: P23560
Secondary accession number(s): A7LA85 expand/collapse secondary AC list , A7LA92, D3DQZ2, Q598Q1, Q6DN19, Q6YNR2, Q6YNR3, Q9BYY7, Q9UC24
Entry history
Integrated into UniProtKB/Swiss-Prot: November 1, 1991
Last sequence update: November 1, 1991
Last modified: April 16, 2014
This is version 154 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Relevant documents

SIMILARITY comments

Index of protein domains and families

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 11

Human chromosome 11: entries, gene names and cross-references to MIM