LOCUS       NM_001390846            4298 bp    mRNA    linear   PRI 07-APR-2024
DEFINITION  Homo sapiens von Willebrand factor A domain containing 5B2
            (VWA5B2), transcript variant 9, mRNA.
ACCESSION   NM_001390846
VERSION     NM_001390846.1
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 4298)
  AUTHORS   Ripke,S., Wray,N.R., Lewis,C.M., Hamilton,S.P., Weissman,M.M.,
            Breen,G., Byrne,E.M., Blackwood,D.H., Boomsma,D.I., Cichon,S.,
            Heath,A.C., Holsboer,F., Lucae,S., Madden,P.A., Martin,N.G.,
            McGuffin,P., Muglia,P., Noethen,M.M., Penninx,B.P., Pergadia,M.L.,
            Potash,J.B., Rietschel,M., Lin,D., Muller-Myhsok,B., Shi,J.,
            Steinberg,S., Grabe,H.J., Lichtenstein,P., Magnusson,P.,
            Perlis,R.H., Preisig,M., Smoller,J.W., Stefansson,K., Uher,R.,
            Kutalik,Z., Tansey,K.E., Teumer,A., Viktorin,A., Barnes,M.R.,
            Bettecken,T., Binder,E.B., Breuer,R., Castro,V.M., Churchill,S.E.,
            Coryell,W.H., Craddock,N., Craig,I.W., Czamara,D., De Geus,E.J.,
            Degenhardt,F., Farmer,A.E., Fava,M., Frank,J., Gainer,V.S.,
            Gallagher,P.J., Gordon,S.D., Goryachev,S., Gross,M., Guipponi,M.,
            Henders,A.K., Herms,S., Hickie,I.B., Hoefels,S., Hoogendijk,W.,
            Hottenga,J.J., Iosifescu,D.V., Ising,M., Jones,I., Jones,L.,
            Jung-Ying,T., Knowles,J.A., Kohane,I.S., Kohli,M.A., Korszun,A.,
            Landen,M., Lawson,W.B., Lewis,G., Macintyre,D., Maier,W.,
            Mattheisen,M., McGrath,P.J., McIntosh,A., McLean,A.,
            Middeldorp,C.M., Middleton,L., Montgomery,G.M., Murphy,S.N.,
            Nauck,M., Nolen,W.A., Nyholt,D.R., O'Donovan,M., Oskarsson,H.,
            Pedersen,N., Scheftner,W.A., Schulz,A., Schulze,T.G., Shyn,S.I.,
            Sigurdsson,E., Slager,S.L., Smit,J.H., Stefansson,H., Steffens,M.,
            Thorgeirsson,T., Tozzi,F., Treutlein,J., Uhr,M., van den Oord,E.J.,
            Van Grootheest,G., Volzke,H., Weilburg,J.B., Willemsen,G.,
            Zitman,F.G., Neale,B., Daly,M., Levinson,D.F. and Sullivan,P.F.
  CONSRTM   Major Depressive Disorder Working Group of the Psychiatric GWAS
            Consortium
  TITLE     A mega-analysis of genome-wide association studies for major
            depressive disorder
  JOURNAL   Mol Psychiatry 18 (4), 497-511 (2013)
   PUBMED   22472876
REFERENCE   2  (bases 1 to 4298)
  AUTHORS   Lehner,B. and Sanderson,C.M.
  TITLE     A protein interaction framework for human mRNA degradation
  JOURNAL   Genome Res 14 (7), 1315-1323 (2004)
   PUBMED   15231747
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC061705.16.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR11853565.21375.1,
                                           SRR14038193.3465649.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2154405, SAMEA2162841
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000691901.1/ ENSP00000509115.1
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-129               AC061705.16        30923-31051         c
            130-417             AC061705.16        29969-30256         c
            418-588             AC061705.16        29719-29889         c
            589-808             AC061705.16        27239-27458         c
            809-966             AC061705.16        26903-27060         c
            967-1098            AC061705.16        26239-26370         c
            1099-1223           AC061705.16        25881-26005         c
            1224-1379           AC061705.16        25328-25483         c
            1380-1490           AC061705.16        24374-24484         c
            1491-1699           AC061705.16        24085-24293         c
            1700-1811           AC061705.16        23887-23998         c
            1812-1997           AC061705.16        23225-23410         c
            1998-2169           AC061705.16        22162-22333         c
            2170-2480           AC061705.16        21763-22073         c
            2481-2670           AC061705.16        21053-21242         c
            2671-3018           AC061705.16        20600-20947         c
            3019-3156           AC061705.16        19708-19845         c
            3157-3240           AC061705.16        19529-19612         c
            3241-3458           AC061705.16        19232-19449         c
            3459-4298           AC061705.16        18307-19146         c
FEATURES             Location/Qualifiers
     source          1..4298
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q27.1"
     gene            1..4298
                     /gene="VWA5B2"
                     /note="von Willebrand factor A domain containing 5B2"
                     /db_xref="GeneID:90113"
                     /db_xref="HGNC:HGNC:25144"
     exon            1..129
                     /gene="VWA5B2"
                     /inference="alignment:Splign:2.1.0"
     exon            130..417
                     /gene="VWA5B2"
                     /inference="alignment:Splign:2.1.0"
     CDS             279..4007
                     /gene="VWA5B2"
                     /note="isoform 1 is encoded by transcript variant 9; von
                     Willebrand factor A domain-containing protein 5B2"
                     /codon_start=1
                     /product="von Willebrand factor A domain-containing
                     protein 5B2 isoform 1"
                     /protein_id="NP_001377775.1"
                     /db_xref="CCDS:CCDS54686.1"
                     /db_xref="GeneID:90113"
                     /db_xref="HGNC:HGNC:25144"
                     /translation="MPGLYCPSSWTPLPLTDSWVRACANGPCLSVRARLTYRNPQPQP
                     VDGVFVYPLAEAEVVSGFEAEAAGRRVSFQLQSRRRSQAACCRALGPGLGTPTPRRCA
                     QGHLVLDLAQARSTLVLPTGIIAAAGTMTVTLHSSRELPSRPDGVLHVALPTVLTPLA
                     PPGPPGPPRPPGLCDDSPTSCFGVGSLQEEGLAWEELAAPRDVFSGPARCPAPYTFSF
                     EMLVTGPCLLAGLESPSHALRADAPPHASSAATICVTLAEGHHCDRALEILLHPSEPH
                     QPHLMLEGGSLSSAEYEARVRARRDFQRLQRRDSDGDRQVWFLQRRFHKDILLNPVLA
                     LSFCPDLSSKPGHLGTATRELLFLLDSSSVAHKDAIVLAVKSLPPQTLINLAVFGTLV
                     QPLFPESRPCSDDAVQLICESIETLQVPSGPPDVLAALDWAVGQPQHRAYPRQLFLLT
                     AASPMAATTHRTLELMRWHRGTARCFSFGLGPTCHQLLQGLSALSRGQAYFLRPGQRL
                     QPMLVQALRKALEPALSDISVDWFVPDTVEALLTPREIPALYPGDQLLGYCSLFRVDG
                     FRSRPPGGQEPGWQSSGGSVFPSPEEAPSAASPGTEPTGTSEPLGTGTVSAELSSPWA
                     ARDSEQSTDALTDPVTDPGPNPSDTAIWRRIFQSSYIREQYVLTHCSASPEPGPGSTG
                     SSESPGSQGPGSPEGSAPLEPPSQQGCRSLAWGEPAGSRSCPLPAPTPAPFKVGALST
                     EVLGRQHRAALAGRSLSSPPGRANQVPGRPRKPSLGAILDGPSPEPGQQLGQGLDDSG
                     NLLSPAPMDWDMLMEPPFLFTAVPPSGELAPPAVPPQAPRCHVVIRGLCGEQPMCWEV
                     GVGLETLWGPGDGSQPPSPPVREAAWDQALHRLTAASVVRDNEQLALRGGAETTADRG
                     HARRCWLRALQTSKVSSAPSCFTCPVAVDATTREVLPGALQVCSSEPAEPPGTPPASH
                     SHLDAAPLPTVVYSKGLQRGSPAGAWDSDQNGNSKRALGDPATPTEGPRRPPPRPPCR
                     LSMGRRHKLCSPDPGQANNSEGSDHDYLPLVRLQEAPGSFRLDAPFCAAVRISQERLC
                     RASPFAVHRASLSPTSASLPWALLGPGVGQGDSATASCSPSPSSGSEGPGQVDSGRGS
                     DTEASEGAEGLGGTDLRGRTWATAVALAWLEHRCAAAFDEWELTAAKADCWLRAQHLP
                     DGLDLAALKAAARGLFLLLRHWDQNLQLHLLCYSPANV"
     exon            418..588
                     /gene="VWA5B2"
                     /inference="alignment:Splign:2.1.0"
     exon            589..808
                     /gene="VWA5B2"
                     /inference="alignment:Splign:2.1.0"
     exon            809..966
                     /gene="VWA5B2"
                     /inference="alignment:Splign:2.1.0"
     exon            967..1098
                     /gene="VWA5B2"
                     /inference="alignment:Splign:2.1.0"
     exon            1099..1223
                     /gene="VWA5B2"
                     /inference="alignment:Splign:2.1.0"
     exon            1224..1379
                     /gene="VWA5B2"
                     /inference="alignment:Splign:2.1.0"
     exon            1380..1490
                     /gene="VWA5B2"
                     /inference="alignment:Splign:2.1.0"
     exon            1491..1699
                     /gene="VWA5B2"
                     /inference="alignment:Splign:2.1.0"
     exon            1700..1811
                     /gene="VWA5B2"
                     /inference="alignment:Splign:2.1.0"
     exon            1812..1997
                     /gene="VWA5B2"
                     /inference="alignment:Splign:2.1.0"
     exon            1998..2169
                     /gene="VWA5B2"
                     /inference="alignment:Splign:2.1.0"
     exon            2170..2480
                     /gene="VWA5B2"
                     /inference="alignment:Splign:2.1.0"
     exon            2481..2670
                     /gene="VWA5B2"
                     /inference="alignment:Splign:2.1.0"
     exon            2671..3018
                     /gene="VWA5B2"
                     /inference="alignment:Splign:2.1.0"
     exon            3019..3156
                     /gene="VWA5B2"
                     /inference="alignment:Splign:2.1.0"
     exon            3157..3240
                     /gene="VWA5B2"
                     /inference="alignment:Splign:2.1.0"
     exon            3241..3458
                     /gene="VWA5B2"
                     /inference="alignment:Splign:2.1.0"
     exon            3459..4298
                     /gene="VWA5B2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4280..4285
                     /regulatory_class="polyA_signal_sequence"
                     /gene="VWA5B2"
                     /note="hexamer: AATAAA"
     polyA_site      4298
                     /gene="VWA5B2"
                     /note="major polyA site"
ORIGIN      
        1 agagccgctg cagccacagt cacgaactgg cggccggcag gtgccgggac cgagggccac
       61 ccggagcgca gaggcggcac cacccacacg gatcccgtgg gcacctagaa ctccgcggag
      121 ggcgcgacgg agctcccgct cggcctcgcg ccccggcagg ccccgtccgg gtgctggagt
      181 gagactctcg cgctggcctc tggagcgcgg ggtgggcgtc ccgtcaccct gcgcccagct
      241 tccccggccc gttcccgcag ggccggcctc ccggcgccat gcccggcctg tactgcccct
      301 ccagctggac gccgctgccg ctcacggact cctgggtccg ggcctgcgcc aacggcccct
      361 gcctcagcgt gcgggcccgg ctcacctacc gcaacccgca gccgcagccg gtggacggcg
      421 tgttcgtgta cccgctggcc gaggccgagg tggtgtccgg cttcgaggcc gaggccgccg
      481 gacggcgcgt ctccttccag ctgcagagcc ggcgccgctc gcaggccgcc tgctgccgcg
      541 ctctgggccc ggggctgggg accccgacgc cccgccgctg cgcgcagggt catcttgtct
      601 tggatctggc ccaggcccgg tccacgttgg tgctgcccac aggcattatc gccgcggctg
      661 gcaccatgac ggtgaccctg cacagcagcc gggagctgcc ctcaaggcct gacggggtgc
      721 tgcatgtggc cctgcccact gtgctcaccc cgctggcccc gccaggcccg ccggggcccc
      781 ccaggcctcc ggggctctgt gacgacagcc ccaccagctg cttcggggtg ggcagccttc
      841 aggaggaagg gctggcctgg gaggagctgg ctgcccctcg ggacgtgttc tcaggccctg
      901 cccgctgccc tgccccatat accttctcct tcgagatgct ggtgactggg ccatgcctgc
      961 ttgcaggcct ggagagcccc tctcatgctc tgcgggcaga tgccccccct catgccagct
     1021 ctgcagccac catctgtgtc acactggcag agggccacca ctgtgaccgg gccttggaga
     1081 tcctgctgca ccccagtgag ccccatcagc cacacctgat gctggagggc ggcagcctga
     1141 gctcagcaga atatgaggcc cgggtgaggg cccgccgaga ttttcagagg ctacagcgaa
     1201 gggacagtga tggggaccgg caggtgtggt tcctgcagcg acgcttccac aaggacatcc
     1261 tgctgaaccc cgtgctggcg ctgagcttct gcccagacct gagctccaag cccggacacc
     1321 tggggacagc tactcgggag ctactcttcc ttttggatag cagcagcgtg gcacacaagg
     1381 atgccattgt tttggctgtg aagtccctcc cgccccagac gcttatcaac ctggccgtgt
     1441 ttgggacgtt ggtgcagcca ctcttcccag agagccggcc ttgcagtgat gatgctgtgc
     1501 agctgatctg cgagagcatt gagaccctgc aggttccgag tgggccccca gacgtgctgg
     1561 ctgctctgga ctgggccgtg gggcagcccc agcacagggc ctaccctcgg cagctgttcc
     1621 tgctcactgc tgcctcaccc atggccgcca ctacccaccg aaccctggag ctcatgaggt
     1681 ggcacagggg gacagccaga tgcttctcct ttgggctggg gcccacctgc caccagctgc
     1741 tccagggttt atctgccctc agcagaggcc aggcctactt cctgaggcct gggcagaggc
     1801 tgcagcccat gctggtacag gctctgcgga aggcactgga gcctgctttg agtgacatct
     1861 ctgtggactg gtttgtgccc gacactgtgg aggcactgct gaccccccgg gagatcccag
     1921 cactctaccc tggggaccag ctgctcggtt actgctcact cttcagggtg gatggcttcc
     1981 ggtcccgccc accagggggc caagagcctg gctggcagag ctcgggtggg tccgtgtttc
     2041 catccccaga agaggccccg tctgctgcca gccctggcac tgagcccact ggcacctcag
     2101 agccactggg aacaggcact gtctcagcag aactgtccag cccatgggct gccagggact
     2161 cggagcagag tactgatgct ctgacagacc cagtcacgga tcctggaccc aacccctctg
     2221 acacagccat atggcgccgc atctttcagt cctcgtacat tcgggagcag tatgtgctca
     2281 cccactgctc tgccagcccc gagccaggcc caggctccac aggcagcagt gagtccccag
     2341 gctcacaggg ccctggctcc cccgaaggta gtgctccctt ggagccccct tctcagcagg
     2401 gctgccgcag tctggcctgg ggagaacctg caggctcccg ctcctgtccc ctgcctgcac
     2461 ccacaccagc tccattcaag gtgggggcct tgagtactga ggtgctgggc cgtcagcaca
     2521 gagcggctct ggctggccga agcctctcat cccctccagg ccgggcaaac caagtccccg
     2581 gccgaccccg gaaaccctct ttgggtgcaa tactagatgg cccaagtcct gagccaggcc
     2641 aacagttggg acaaggcctg gatgactcag gaaacctgct ctccccagcc cctatggact
     2701 gggacatgct gatggaacca cccttcttat tcacggctgt gcctcctagt ggggagttgg
     2761 cccctccagc agtgcctccc caggctccac gctgccatgt ggtgatccgg ggcctgtgtg
     2821 gggagcagcc catgtgctgg gaggtgggtg ttgggctgga gacactgtgg ggacctggag
     2881 atggctcaca gcctccctca cctcctgtaa gagaagctgc ttgggaccaa gcactccatc
     2941 ggctgacagc agcctctgtg gtccgggaca atgagcagct ggccctccga ggaggggcag
     3001 agaccacagc tgaccggggc catgcccgga ggtgctggct tcgagccctt cagacaagta
     3061 aggtcagctc tgccccctcc tgcttcactt gccctgtagc tgtggatgct actactaggg
     3121 aggtcctgcc tggggccctg caggtgtgca gctcagagcc cgctgagccc ccaggaaccc
     3181 ctcctgcctc tcacagccat ctagatgcag ctcctctgcc cactgttgtc tactctaaag
     3241 gacttcagag aggctctcca gcaggcgcct gggactcgga ccaaaatggc aactccaagc
     3301 gtgctttggg ggaccctgcc actcccacgg aaggtcctcg ccgcccacct ccccgtcctc
     3361 cctgtcggct cagcatgggc cgccgtcaca aactctgtag ccctgacccg ggccaggcca
     3421 acaacagtga aggcagcgac catgactacc tgcccttggt gcggctgcag gaggcaccag
     3481 gctccttccg cctggacgcg cccttctgcg ccgctgtgcg catctcgcag gagcgcctct
     3541 gccgtgcctc gccctttgcc gtgcaccgcg ccagcctcag ccccacctcg gcctcattgc
     3601 cctgggcact tctgggccct ggtgttggcc agggtgacag tgccacggcc tcctgcagcc
     3661 cgtcccccag ctcgggctct gaggggccag gccaggtgga cagtgggcgg ggctcagaca
     3721 ccgaggcctc cgagggggcg gaagggctgg gcggcaccga cctgcggggc cggacctggg
     3781 ccactgccgt agcactcgcc tggctggagc accgatgcgc cgctgccttc gacgagtggg
     3841 aactgacagc ggccaaggct gattgctggc tgcgggccca gcacttgcct gacggccttg
     3901 acctggccgc cctcaaggcc gcagcccgag ggctcttcct gctactgcgc cactgggacc
     3961 aaaacctgca gctacacctg ctgtgctaca gcccagcgaa cgtgtgaagg ctgccccctg
     4021 ctgcttgggc tggcgcccca cccaacacac tcaagtcact gccgcccagg gctggcctct
     4081 tggtgctggg aaagtgtagg ctggtgccag cctgtccccc actgcttctt actccctccc
     4141 tagagccctc ttgcccccac aaaaagtgcc tgcctgtgct ctctccctct cctcccaccc
     4201 cactcacact cccctccatc ctctgagctc cctgcaacac agtggaaggg tagagagcca
     4261 cagtccccaa atcctatgca ataaagtgcc tcttagga
//
