LOCUS       NM_002608               3728 bp    mRNA    linear   PRI 07-OCT-2024
DEFINITION  Homo sapiens platelet derived growth factor subunit B (PDGFB),
            transcript variant 1, mRNA.
ACCESSION   NM_002608
VERSION     NM_002608.4
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 3728)
  AUTHORS   Lin,Y., Gahn,J., Banerjee,K., Dobreva,G., Singhal,M., Dubrac,A. and
            Ola,R.
  TITLE     Role of endothelial PDGFB in arterio-venous malformations
            pathogenesis
  JOURNAL   Angiogenesis 27 (2), 193-209 (2024)
   PUBMED   38070064
  REMARK    GeneRIF: Role of endothelial PDGFB in arterio-venous malformations
            pathogenesis.
REFERENCE   2  (bases 1 to 3728)
  AUTHORS   Li,J.S., Zheng,P.F., Rong,J.J., Zheng,Z.F., Liu,Z.Y. and Wang,C.L.
  TITLE     Platelet-derived growth factor subunit-B mediating the effect of
            dickkopf-1 on acute myocardial infarction risk: a two-step
            Mendelian randomization study
  JOURNAL   Aging (Albany NY) 16 (1), 701-713 (2024)
   PUBMED   38175715
  REMARK    GeneRIF: Platelet-derived growth factor subunit-B mediating the
            effect of dickkopf-1 on acute myocardial infarction risk: a
            two-step Mendelian randomization study.
REFERENCE   3  (bases 1 to 3728)
  AUTHORS   Yektay Farahmand,M., Wasselius,J., Englund,E., Braverman,I.,
            Puschmann,A. and Ilinca,A.
  TITLE     Small vessel disease in primary familial brain calcification with
            novel truncating PDGFB variants
  JOURNAL   Neurol Neurochir Pol 58 (1), 94-105 (2024)
   PUBMED   38156729
  REMARK    GeneRIF: Small vessel disease in primary familial brain
            calcification with novel truncating PDGFB variants.
REFERENCE   4  (bases 1 to 3728)
  AUTHORS   Demoulin,J.B. and Essaghir,A.
  TITLE     PDGF receptor signaling networks in normal and cancer cells
  JOURNAL   Cytokine Growth Factor Rev 25 (3), 273-283 (2014)
   PUBMED   24703957
  REMARK    Review article
REFERENCE   5  (bases 1 to 3728)
  AUTHORS   Dirks,R.P., Onnekink,C., Jansen,H.J., de Jong,A. and Bloemers,H.P.
  TITLE     A novel human c-sis mRNA species is transcribed from a promoter in
            c-sis intron 1 and contains the code for an alternative PDGF B-like
            protein
  JOURNAL   Nucleic Acids Res 23 (15), 2815-2822 (1995)
   PUBMED   7659502
REFERENCE   6  (bases 1 to 3728)
  AUTHORS   Ramos,E.M., Oliveira,J., Sobrido,M.J. and Coppola,G.
  TITLE     Primary Familial Brain Calcification
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301594
REFERENCE   7  (bases 1 to 3728)
  AUTHORS   Klein,C., Lohmann,K., Marras,C. and Munchau,A.
  TITLE     Hereditary Dystonia Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301334
REFERENCE   8  (bases 1 to 3728)
  AUTHORS   Ratner,L., Josephs,S.F., Jarrett,R., Reitz,M.S. Jr. and
            Wong-Staal,F.
  TITLE     Nucleotide sequence of transforming human c-sis cDNA clones with
            homology to platelet-derived growth factor
  JOURNAL   Nucleic Acids Res 13 (14), 5007-5018 (1985)
   PUBMED   2991848
REFERENCE   9  (bases 1 to 3728)
  AUTHORS   Heldin,C.H., Westermark,B. and Wasteson,A.
  TITLE     Platelet-derived growth factor: purification and partial
            characterization
  JOURNAL   Proc Natl Acad Sci U S A 76 (8), 3722-3726 (1979)
   PUBMED   291037
REFERENCE   10 (bases 1 to 3728)
  AUTHORS   Antoniades,H.N., Scher,C.D. and Stiles,C.D.
  TITLE     Purification of human platelet-derived growth factor
  JOURNAL   Proc Natl Acad Sci U S A 76 (4), 1809-1813 (1979)
   PUBMED   287022
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from M12783.1, CD386140.1, X02811.1,
            BC077725.1, BC029822.1 and Z81010.2.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_002608.3.
            
            Summary: This gene encodes a member of the protein family comprised
            of both platelet-derived growth factors (PDGF) and vascular
            endothelial growth factors (VEGF). The encoded preproprotein is
            proteolytically processed to generate platelet-derived growth
            factor subunit B, which can homodimerize, or alternatively,
            heterodimerize with the related platelet-derived growth factor
            subunit A. These proteins bind and activate PDGF receptor tyrosine
            kinases, which play a role in a wide range of developmental
            processes. Mutations in this gene are associated with meningioma.
            Reciprocal translocations between chromosomes 22 and 17, at sites
            where this gene and that for collagen type 1, alpha 1 are located,
            are associated with dermatofibrosarcoma protuberans, a rare skin
            tumor. Alternative splicing results in multiple transcript
            variants. [provided by RefSeq, Oct 2015].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1), which contains a
            signal peptide.
            
            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 :: M12783.1, GQ901040.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2149398 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000331163.11/ ENSP00000330382.6
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-18                M12783.1           74-91
            19-171              CD386140.1         34-186
            172-284             M12783.1           245-357
            285-398             X02811.1           249-362
            399-918             BC077725.1         204-723
            919-1947            M12783.1           992-2020
            1948-3403           BC029822.1         1241-2696
            3404-3683           M12783.1           3474-3753
            3684-3719           Z81010.2           27145-27180
            3720-3728           M12783.1           3790-3798
FEATURES             Location/Qualifiers
     source          1..3728
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q13.1"
     gene            1..3728
                     /gene="PDGFB"
                     /gene_synonym="c-sis; IBGC5; PDGF-2; PDGF2; SIS; SSV"
                     /note="platelet derived growth factor subunit B"
                     /db_xref="GeneID:5155"
                     /db_xref="HGNC:HGNC:8800"
                     /db_xref="MIM:190040"
     exon            1..1082
                     /gene="PDGFB"
                     /gene_synonym="c-sis; IBGC5; PDGF-2; PDGF2; SIS; SSV"
                     /inference="alignment:Splign:2.1.0"
     exon            1083..1179
                     /gene="PDGFB"
                     /gene_synonym="c-sis; IBGC5; PDGF-2; PDGF2; SIS; SSV"
                     /inference="alignment:Splign:2.1.0"
     exon            1180..1269
                     /gene="PDGFB"
                     /gene_synonym="c-sis; IBGC5; PDGF-2; PDGF2; SIS; SSV"
                     /inference="alignment:Splign:2.1.0"
     exon            1270..1475
                     /gene="PDGFB"
                     /gene_synonym="c-sis; IBGC5; PDGF-2; PDGF2; SIS; SSV"
                     /inference="alignment:Splign:2.1.0"
     exon            1476..1620
                     /gene="PDGFB"
                     /gene_synonym="c-sis; IBGC5; PDGF-2; PDGF2; SIS; SSV"
                     /inference="alignment:Splign:2.1.0"
     exon            1621..1773
                     /gene="PDGFB"
                     /gene_synonym="c-sis; IBGC5; PDGF-2; PDGF2; SIS; SSV"
                     /inference="alignment:Splign:2.1.0"
     exon            1774..3728
                     /gene="PDGFB"
                     /gene_synonym="c-sis; IBGC5; PDGF-2; PDGF2; SIS; SSV"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3392..3397
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PDGFB"
                     /gene_synonym="c-sis; IBGC5; PDGF-2; PDGF2; SIS; SSV"
                     /note="hexamer: AACAAA"
     regulatory      3402..3407
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PDGFB"
                     /gene_synonym="c-sis; IBGC5; PDGF-2; PDGF2; SIS; SSV"
                     /note="hexamer: AATGAA"
     polyA_site      3403
                     /gene="PDGFB"
                     /gene_synonym="c-sis; IBGC5; PDGF-2; PDGF2; SIS; SSV"
                     /note="major polyA site"
     polyA_site      3424
                     /gene="PDGFB"
                     /gene_synonym="c-sis; IBGC5; PDGF-2; PDGF2; SIS; SSV"
ORIGIN      
        1 ggcaacttct cctcctgcag ccgggagcgg cctgcctgcc tccctgcgca cccgcagcct
       61 cccccgctgc ctccctaggg ctcccctccg gccgccagcg cccatttttc attccctaga
      121 tagagatact ttgcgcgcac acacatacat acgcgcgcaa aaaggaaaaa aaaaaaaaaa
      181 agcccaccct ccagcctcgc tgcaaagaga aaaccggagc agccgcagct cgcagctcgc
      241 agctcgcagc ccgcagcccg cagaggacgc ccagagcggc gagcgggcgg gcagacggac
      301 cgacggactc gcgccgcgtc cacctgtcgg ccgggcccag ccgagcgcgc agcgggcacg
      361 ccgcgcgcgc ggagcagccg tgcccgccgc ccgggccccg cgccagggcg cacacgctcc
      421 cgccccccta cccggcccgg gcgggagttt gcacctctcc ctgcccgggt gctcgagctg
      481 ccgttgcaaa gccaactttg gaaaaagttt tttgggggag acttgggcct tgaggtgccc
      541 agctccgcgc tttccgattt tgggggcctt tccagaaaat gttgcaaaaa agctaagccg
      601 gcgggcagag gaaaacgcct gtagccggcg agtgaagacg aaccatcgac tgccgtgttc
      661 cttttcctct tggaggttgg agtcccctgg gcgcccccac acggctagac gcctcggctg
      721 gttcgcgacg cagccccccg gccgtggatg ctcactcggg ctcgggatcc gcccaggtag
      781 cggcctcgga cccaggtcct gcgcccaggt cctcccctgc cccccagcga cggagccggg
      841 gccgggggcg gcggcgcccg ggggccatgc gggtgagccg cggctgcaga ggcctgagcg
      901 cctgatcgcc gcggacccga gccgagccca cccccctccc cagcccccca ccctggccgc
      961 gggggcggcg cgctcgatct acgcgtccgg ggccccgcgg ggccgggccc ggagtcggca
     1021 tgaatcgctg ctgggcgctc ttcctgtctc tctgctgcta cctgcgtctg gtcagcgccg
     1081 agggggaccc cattcccgag gagctttatg agatgctgag tgaccactcg atccgctcct
     1141 ttgatgatct ccaacgcctg ctgcacggag accccggaga ggaagatggg gccgagttgg
     1201 acctgaacat gacccgctcc cactctggag gcgagctgga gagcttggct cgtggaagaa
     1261 ggagcctggg ttccctgacc attgctgagc cggccatgat cgccgagtgc aagacgcgca
     1321 ccgaggtgtt cgagatctcc cggcgcctca tagaccgcac caacgccaac ttcctggtgt
     1381 ggccgccctg tgtggaggtg cagcgctgct ccggctgctg caacaaccgc aacgtgcagt
     1441 gccgccccac ccaggtgcag ctgcgacctg tccaggtgag aaagatcgag attgtgcgga
     1501 agaagccaat ctttaagaag gccacggtga cgctggaaga ccacctggca tgcaagtgtg
     1561 agacagtggc agctgcacgg cctgtgaccc gaagcccggg gggttcccag gagcagcgag
     1621 ccaaaacgcc ccaaactcgg gtgaccattc ggacggtgcg agtccgccgg ccccccaagg
     1681 gcaagcaccg gaaattcaag cacacgcatg acaagacggc actgaaggag acccttggag
     1741 cctaggggca tcggcaggag agtgtgtggg cagggttatt taatatggta tttgctgtat
     1801 tgcccccatg gggtccttgg agtgataata ttgtttccct cgtccgtctg tctcgatgcc
     1861 tgattcggac ggccaatggt gcttccccca cccctccacg tgtccgtcca cccttccatc
     1921 agcgggtctc ctcccagcgg cctccggcgt cttgcccagc agctcaagaa gaaaaagaag
     1981 gactgaactc catcgccatc ttcttccctt aactccaaga acttgggata agagtgtgag
     2041 agagactgat ggggtcgctc tttgggggaa acgggctcct tcccctgcac ctggcctggg
     2101 ccacacctga gcgctgtgga ctgtcctgag gagccctgag gacctctcag catagcctgc
     2161 ctgatccctg aacccctggc cagctctgag gggaggcacc tccaggcagg ccaggctgcc
     2221 tcggactcca tggctaagac cacagacggg cacacagact ggagaaaacc cctcccacgg
     2281 tgcccaaaca ccagtcacct cgtctccctg gtgcctctgt gcacagtggc ttcttttcgt
     2341 tttcgttttg aagacgtgga ctcctcttgg tgggtgtggc cagcacacca agtggctggg
     2401 tgccctctca ggtgggttag agatggagtt tgctgttgag gtggctgtag atggtgacct
     2461 gggtatcccc tgcctcctgc caccccttcc tccccacact ccactctgat tcacctcttc
     2521 ctctggttcc tttcatctct ctacctccac cctgcatttt cctcttgtcc tggcccttca
     2581 gtctgctcca ccaaggggct cttgaacccc ttattaaggc cccagatgat cccagtcact
     2641 cctctctagg gcagaagact agaggccagg gcagcaaggg acctgctcat catattccaa
     2701 cccagccacg actgccatgt aaggttgtgc agggtgtgta ctgcacaagg acattgtatg
     2761 cagggagcac tgttcacatc atagataaag ctgatttgta tatttattat gacaatttct
     2821 ggcagatgta ggtaaagagg aaaaggatcc ttttcctaat tcacacaaag actccttgtg
     2881 gactggctgt gcccctgatg cagcctgtgg cttggagtgg ccaaatagga gggagactgt
     2941 ggtaggggca gggaggcaac actgctgtcc acatgacctc catttcccaa agtcctctgc
     3001 tccagcaact gcccttccag gtgggtgtgg gacacctggg agaaggtctc caagggaggg
     3061 tgcagccctc ttgcccgcac ccctccctgc ttgcacactt ccccatcttt gatccttctg
     3121 agctccacct ctggtggctc ctcctaggaa accagctcgt gggctgggaa tgggggagag
     3181 aagggaaaag atccccaaga ccccctgggg tgggatctga gctcccacct cccttcccac
     3241 ctactgcact ttcccccttc ccgccttcca aaacctgctt ccttcagttt gtaaagtcgg
     3301 tgattatatt tttgggggct ttccttttat tttttaaatg taaaatttat ttatattccg
     3361 tatttaaagt tgtaaaaaaa aataaccaca aaacaaaacc aaatgaatcc gccggaggtc
     3421 tgtctgttgg catcgtgcgt gacaattaac ctttctgcct tggcaggatg tgccgacagc
     3481 ttgcggcgtg ttcctctcac tctgggagcc tcaggcgtga tctcacacac tggcgtgcac
     3541 atacacacac acacacatac atgctcacac atgcgtgcac atacacgcag gcctgcaact
     3601 tgggggaggc ctctgtctgg cgggaagaag agacacacag gctactctgt tggtcttggt
     3661 cctggcacag ctcctgacac gtggacttgt gcgtgtctct ggcagtgacg agagatgggt
     3721 ttctgcag
//
