LOCUS       NM_001709               3985 bp    mRNA    linear   PRI 08-DEC-2024
DEFINITION  Homo sapiens brain derived neurotrophic factor (BDNF), transcript
            variant 4, mRNA.
ACCESSION   NM_001709
VERSION     NM_001709.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3985)
  AUTHORS   Przybylska,I., Marusiak,J., Toczylowska,B., Stepien,A.,
            Brodacki,B., Langfort,J. and Chalimoniuk,M.
  TITLE     Association between the Val66Met (rs6265) polymorphism of the
            brain-derived neurotrophic factor (BDNF) gene, BDNF protein level
            in the blood and the risk of developing early-onset Parkinson's
            disease
  JOURNAL   Acta Neurobiol Exp (Wars) 84 (3), 296-308 (2024)
   PUBMED   39392027
  REMARK    GeneRIF: Association between the Val66Met (rs6265) polymorphism of
            the brain-derived neurotrophic factor (BDNF) gene, BDNF protein
            level in the blood and the risk of developing early-onset
            Parkinson's disease.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3985)
  AUTHORS   Gliwinska,A., Badenska,M., Dworak,M., Swietochowska,E.,
            Badenski,A., Bjanid,O., Trembecka-Dubel,E., Morawiec-Knysak,A. and
            Szczepanska,M.
  TITLE     Assessment of brain-derived neurotrophic factor and irisin
            concentration in children with chronic kidney disease: a pilot
            study
  JOURNAL   BMC Nephrol 25 (1), 318 (2024)
   PUBMED   39334009
  REMARK    GeneRIF: Assessment of brain-derived neurotrophic factor and irisin
            concentration in children with chronic kidney disease: a pilot
            study.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3985)
  AUTHORS   Liu,B., Liu,Y., Li,S., Chen,P., Zhang,J. and Feng,L.
  TITLE     Depletion of placental brain-derived neurotrophic factor (BDNF) is
            attributed to premature ovarian insufficiency (POI) in mice
            offspring
  JOURNAL   J Ovarian Res 17 (1), 141 (2024)
   PUBMED   38982490
  REMARK    GeneRIF: Depletion of placental brain-derived neurotrophic factor
            (BDNF) is attributed to premature ovarian insufficiency (POI) in
            mice offspring.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3985)
  AUTHORS   Ton Loy,A.F., Adler,J.S., Merritt,V.C., Sorg,S.F., Bondi,M.W. and
            Delano-Wood,L.
  TITLE     APOExBDNF Interaction and Poorer Cognitive Outcomes Among Veterans
            With Mild Traumatic Brain Injury: An Exploratory Study
  JOURNAL   J Neuropsychiatry Clin Neurosci 36 (4), 300-305 (2024)
   PUBMED   38988190
  REMARK    GeneRIF: APOExBDNF Interaction and Poorer Cognitive Outcomes Among
            Veterans With Mild Traumatic Brain Injury: An Exploratory Study.
REFERENCE   5  (bases 1 to 3985)
  AUTHORS   Rosenfeld,R.D., Zeni,L., Haniu,M., Talvenheimo,J., Radka,S.F.,
            Bennett,L., Miller,J.A. and Welcher,A.A.
  TITLE     Purification and identification of brain-derived neurotrophic
            factor from human serum
  JOURNAL   Protein Expr Purif 6 (4), 465-471 (1995)
   PUBMED   8527932
REFERENCE   6  (bases 1 to 3985)
  AUTHORS   Parisi,M.A.
  TITLE     Hirschsprung Disease Overview - RETIRED CHAPTER, FOR HISTORICAL
            REFERENCE ONLY
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301612
REFERENCE   7  (bases 1 to 3985)
  AUTHORS   Shintani,A., Ono,Y., Kaisho,Y. and Igarashi,K.
  TITLE     Characterization of the 5'-flanking region of the human
            brain-derived neurotrophic factor gene
  JOURNAL   Biochem Biophys Res Commun 182 (1), 325-332 (1992)
   PUBMED   1339267
REFERENCE   8  (bases 1 to 3985)
  AUTHORS   Ozcelik,T., Rosenthal,A. and Francke,U.
  TITLE     Chromosomal mapping of brain-derived neurotrophic factor and
            neurotrophin-3 genes in man and mouse
  JOURNAL   Genomics 10 (3), 569-575 (1991)
   PUBMED   1889807
REFERENCE   9  (bases 1 to 3985)
  AUTHORS   Maisonpierre,P.C., Le Beau,M.M., Espinosa,R. 3rd, Ip,N.Y.,
            Belluscio,L., de la Monte,S.M., Squinto,S., Furth,M.E. and
            Yancopoulos,G.D.
  TITLE     Human and rat brain-derived neurotrophic factor and neurotrophin-3:
            gene structures, distributions, and chromosomal localizations
  JOURNAL   Genomics 10 (3), 558-568 (1991)
   PUBMED   1889806
REFERENCE   10 (bases 1 to 3985)
  AUTHORS   Jones,K.R. and Reichardt,L.F.
  TITLE     Molecular cloning of a human gene that is a member of the nerve
            growth factor family
  JOURNAL   Proc Natl Acad Sci U S A 87 (20), 8060-8064 (1990)
   PUBMED   2236018
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC104563.14 and KF459669.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_001709.4.
            
            Summary: 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].
            
            Transcript Variant: This variant (4), also known as VIb or BDNF5,
            differs in the 5' UTR and represents use of an alternate promoter
            compared to variant 1. Variants 1, 2, 4, 5, and 7-16 encode the
            same isoform (a).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: EF689015.1, SRR3476690.292385.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2158569 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000356660.9/ ENSP00000349084.4
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-292               AC104563.14        120793-121084       c
            293-634             AC104563.14        78873-79214         c
            635-774             KF459669.1         1-140
            775-3985            AC104563.14        75522-78732         c
FEATURES             Location/Qualifiers
     source          1..3985
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p14.1"
     gene            1..3985
                     /gene="BDNF"
                     /gene_synonym="ANON2; BULN2"
                     /note="brain derived neurotrophic factor"
                     /db_xref="GeneID:627"
                     /db_xref="HGNC:HGNC:1033"
                     /db_xref="MIM:113505"
     exon            1..292
                     /gene="BDNF"
                     /gene_synonym="ANON2; BULN2"
                     /inference="alignment:Splign:2.1.0"
     exon            293..3985
                     /gene="BDNF"
                     /gene_synonym="ANON2; BULN2"
                     /inference="alignment:Splign:2.1.0"
     CDS             314..1057
                     /gene="BDNF"
                     /gene_synonym="ANON2; BULN2"
                     /note="isoform a preproprotein is encoded by transcript
                     variant 4; proBDNF; neurotrophin; abrineurin; neurotrophic
                     factor BDNF precursor form"
                     /codon_start=1
                     /product="neurotrophic factor BDNF precursor form isoform
                     a preproprotein"
                     /protein_id="NP_001700.2"
                     /db_xref="CCDS:CCDS7866.1"
                     /db_xref="GeneID:627"
                     /db_xref="HGNC:HGNC:1033"
                     /db_xref="MIM:113505"
                     /translation="MTILFLTMVISYFGCMKAAPMKEANIRGQGGLAYPGVRTHGTLE
                     SVNGPKAGSRGLTSLADTFEHVIEELLDEDQKVRPNEENNKDADLYTSRVMLSSQVPL
                     EPPLLFLLEEYKNYLDAANMSMRVRRHSDPARRGELSVCDSISEWVTAADKKTAVDMS
                     GGTVTVLEKVPVSKGQLKQYFYETKCNPMGYTKEGCRGIDKRHWNSQCRTTQSYVRAL
                     TMDSKKRIGWRFIRIDTSCVCTLTIKRGR"
     regulatory      1346..1351
                     /regulatory_class="polyA_signal_sequence"
                     /gene="BDNF"
                     /gene_synonym="ANON2; BULN2"
                     /note="hexamer: AATAAA"
     polyA_site      1374
                     /gene="BDNF"
                     /gene_synonym="ANON2; BULN2"
     regulatory      1536..1541
                     /regulatory_class="polyA_signal_sequence"
                     /gene="BDNF"
                     /gene_synonym="ANON2; BULN2"
                     /note="hexamer: ATTAAA"
     polyA_site      1556
                     /gene="BDNF"
                     /gene_synonym="ANON2; BULN2"
                     /note="major polyA site"
     regulatory      3856..3861
                     /regulatory_class="polyA_signal_sequence"
                     /gene="BDNF"
                     /gene_synonym="ANON2; BULN2"
                     /note="hexamer: ATTAAA"
     polyA_site      3878
                     /gene="BDNF"
                     /gene_synonym="ANON2; BULN2"
     regulatory      3962..3967
                     /regulatory_class="polyA_signal_sequence"
                     /gene="BDNF"
                     /gene_synonym="ANON2; BULN2"
                     /note="hexamer: AATATA"
     polyA_site      3985
                     /gene="BDNF"
                     /gene_synonym="ANON2; BULN2"
ORIGIN      
        1 gcagcctgga gctccgggtc cccgacgctg ccgccgccgc gcccgggcgc acccgcccgc
       61 tcgctgtccc gcgcaccccg tagcgcctcg ggctcccggg ccggacagag gagccagccc
      121 ggtgcgcccc tccacctcct gctcgggggg ctttaatgag acacccaccg ctgctgtggg
      181 gccggcgggg agcagcaccg cgacggggac cggggctggg cgctggagcc agaatcggaa
      241 ccacgatgtg actccgccgc cggggacccg tgaggtttgt gtggaccccg agttccacca
      301 ggtgagaaga gtgatgacca tccttttcct tactatggtt atttcatact ttggttgcat
      361 gaaggctgcc cccatgaaag aagcaaacat ccgaggacaa ggtggcttgg cctacccagg
      421 tgtgcggacc catgggactc tggagagcgt gaatgggccc aaggcaggtt caagaggctt
      481 gacatcattg gctgacactt tcgaacacgt gatagaagag ctgttggatg aggaccagaa
      541 agttcggccc aatgaagaaa acaataagga cgcagacttg tacacgtcca gggtgatgct
      601 cagtagtcaa gtgcctttgg agcctcctct tctctttctg ctggaggaat acaaaaatta
      661 cctagatgct gcaaacatgt ccatgagggt ccggcgccac tctgaccctg cccgccgagg
      721 ggagctgagc gtgtgtgaca gtattagtga gtgggtaacg gcggcagaca aaaagactgc
      781 agtggacatg tcgggcggga cggtcacagt ccttgaaaag gtccctgtat caaaaggcca
      841 actgaagcaa tacttctacg agaccaagtg caatcccatg ggttacacaa aagaaggctg
      901 caggggcata gacaaaaggc attggaactc ccagtgccga actacccagt cgtacgtgcg
      961 ggcccttacc atggatagca aaaagagaat tggctggcga ttcataagga tagacacttc
     1021 ttgtgtatgt acattgacca ttaaaagggg aagatagtgg atttatgttg tatagattag
     1081 attatattga gacaaaaatt atctatttgt atatatacat aacagggtaa attattcagt
     1141 taagaaaaaa ataattttat gaactgcatg tataaatgaa gtttatacag tacagtggtt
     1201 ctacaatcta tttattggac atgtccatga ccagaaggga aacagtcatt tgcgcacaac
     1261 ttaaaaagtc tgcattacat tccttgataa tgttgtggtt tgttgccgtt gccaagaact
     1321 gaaaacataa aaagttaaaa aaaataataa attgcatgct gctttaattg tgaattgata
     1381 ataaactgtc ctctttcaga aaacagaaaa aaaacacaca cacacacaac aaaaatttga
     1441 accaaaacat tccgtttaca ttttagacag taagtatctt cgttcttgtt agtactatat
     1501 ctgttttact gcttttaact tctgatagcg ttggaattaa aacaatgtca aggtgctgtt
     1561 gtcattgctt tactggctta ggggatgggg gatggggggt atatttttgt ttgttttgtg
     1621 tttttttttc gtttgtttgt tttgtttttt agttcccaca gggagtagag atggggaaag
     1681 aattcctaca atatatattc tggctgataa aagatacatt tgtatgttgt gaagatgttt
     1741 gcaatatcga tcagatgact agaaagtgaa taaaaattaa ggcaactgaa caaaaaaatg
     1801 ctcacactcc acatcccgtg atgcacctcc caggccccgc tcattctttg ggcgttggtc
     1861 agagtaagct gcttttgacg gaaggaccta tgtttgctca gaacacattc tttccccccc
     1921 tccccctctg gtctcctctt tgttttgttt taaggaagaa aaatcagttg cgcgttctga
     1981 aatattttac cactgctgtg aacaagtgaa cacattgtgt cacatcatga cactcgtata
     2041 agcatggaga acagtgattt ttttttagaa cagaaaacaa caaaaaataa ccccaaaatg
     2101 aagattattt tttatgagga gtgaacattt gggtaaatca tggctaagct taaaaaaaac
     2161 tcatggtgag gcttaacaat gtcttgtaag caaaaggtag agccctgtat caacccagaa
     2221 acacctagat cagaacagga atccacattg ccagtgacat gagactgaac agccaaatgg
     2281 aggctatgtg gagttggcat tgcatttacc ggcagtgcgg gaggaatttc tgagtggcca
     2341 tcccaaggtc taggtggagg tggggcatgg tatttgagac attccaaaac gaaggcctct
     2401 gaaggaccct tcagaggtgg ctctggaatg acatgtgtca agctgcttgg acctcgtgct
     2461 ttaagtgcct acattatcta actgtgctca agaggttctc gactggagga ccacactcaa
     2521 gccgacttat gcccaccatc ccacctctgg ataattttgc ataaaattgg attagcctgg
     2581 agcaggttgg gagccaaatg tggcatttgt gatcatgaga ttgatgcaat gagatagaag
     2641 atgtttgcta cctgaacact tattgctttg aaactagact tgaggaaacc agggtttatc
     2701 ttttgagaac ttttggtaag ggaaaaggga acaggaaaag aaaccccaaa ctcaggccga
     2761 atgatcaagg ggacccatag gaaatcttgt ccagagacaa gacttcggga aggtgtctgg
     2821 acattcagaa caccaagact tgaaggtgcc ttgctcaatg gaagaggcca ggacagagct
     2881 gacaaaattt tgctccccag tgaaggccac agcaaccttc tgcccatcct gtctgttcat
     2941 ggagagggtc cctgcctcac ctctgccatt ttgggttagg agaagtcaag ttgggagcct
     3001 gaaatagtgg ttcttggaaa aatggatccc cagtgaaaac tagagctcta agcccattca
     3061 gcccatttca cacctgaaaa tgttagtgat caccacttgg accagcatcc ttaagtatca
     3121 gaaagcccca agcaattgct gcatcttagt agggtgaggg ataagcaaaa gaggatgttc
     3181 accataaccc aggaatgaag ataccatcag caaagaattt caatttgttc agtctttcat
     3241 ttagagctag tctttcacag taccatctga atacctcttt gaaagaagga agactttacg
     3301 tagtgtagat ttgttttgtg ttgtttgaaa atattatctt tgtaattatt tttaatatgt
     3361 aaggaatgct tggaatatct gctgtatgtc aactttatgc agcttccttt tgagggacaa
     3421 atttaaaaca aacaaccccc catcacaaac ttaaaggatt gcaagggcca gatctgttaa
     3481 gtggtttcat aggagacaca tccagcaatt gtgtggtcag tggctctttt acccaataag
     3541 atacatcaca gtcacatgct tgatggttta tgttgaccta agatttattt tgttaaaatc
     3601 tctctctgtt gtgttcgttc ttgttctgtt ttgttttgtt ttttaaagtc ttgctgtggt
     3661 ctctttgtgg cagaagtgtt tcatgcatgg cagcaggcct gttgcttttt tatggcgatt
     3721 cccattgaaa atgtaagtaa atgtctgtgg ccttgttctc tctatggtaa agatattatt
     3781 caccatgtaa aacaaaaaac aatatttatt gtattttagt atatttatat aattatgtta
     3841 ttgaaaaaaa ttggcattaa aacttaaccg catcagaagc ctattgtaaa tacaagttct
     3901 atttaagtgt actaattaac atataatata tgttttaaat atagaatttt taatgttttt
     3961 aaatatattt tcaaagtaca taaaa
//
