LOCUS       NM_130897                628 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens dynein light chain roadblock-type 2 (DYNLRB2),
            transcript variant 1, mRNA.
ACCESSION   NM_130897
VERSION     NM_130897.3
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 628)
  AUTHORS   Kamboh,M.I., Wang,X., Kao,A.H., Barmada,M.M., Clarke,A.,
            Ramsey-Goldman,R., Manzi,S. and Demirci,F.Y.
  TITLE     Genome-wide association study of antiphospholipid antibodies
  JOURNAL   Autoimmune Dis 2013, 761046 (2013)
   PUBMED   23509613
REFERENCE   2  (bases 1 to 628)
  AUTHORS   Chambers,J.C., Zhang,W., Sehmi,J., Li,X., Wass,M.N., Van der
            Harst,P., Holm,H., Sanna,S., Kavousi,M., Baumeister,S.E.,
            Coin,L.J., Deng,G., Gieger,C., Heard-Costa,N.L., Hottenga,J.J.,
            Kuhnel,B., Kumar,V., Lagou,V., Liang,L., Luan,J., Vidal,P.M., Mateo
            Leach,I., O'Reilly,P.F., Peden,J.F., Rahmioglu,N., Soininen,P.,
            Speliotes,E.K., Yuan,X., Thorleifsson,G., Alizadeh,B.Z.,
            Atwood,L.D., Borecki,I.B., Brown,M.J., Charoen,P., Cucca,F.,
            Das,D., de Geus,E.J., Dixon,A.L., Doring,A., Ehret,G.,
            Eyjolfsson,G.I., Farrall,M., Forouhi,N.G., Friedrich,N.,
            Goessling,W., Gudbjartsson,D.F., Harris,T.B., Hartikainen,A.L.,
            Heath,S., Hirschfield,G.M., Hofman,A., Homuth,G., Hypponen,E.,
            Janssen,H.L., Johnson,T., Kangas,A.J., Kema,I.P., Kuhn,J.P.,
            Lai,S., Lathrop,M., Lerch,M.M., Li,Y., Liang,T.J., Lin,J.P.,
            Loos,R.J., Martin,N.G., Moffatt,M.F., Montgomery,G.W., Munroe,P.B.,
            Musunuru,K., Nakamura,Y., O'Donnell,C.J., Olafsson,I.,
            Penninx,B.W., Pouta,A., Prins,B.P., Prokopenko,I., Puls,R.,
            Ruokonen,A., Savolainen,M.J., Schlessinger,D., Schouten,J.N.,
            Seedorf,U., Sen-Chowdhry,S., Siminovitch,K.A., Smit,J.H.,
            Spector,T.D., Tan,W., Teslovich,T.M., Tukiainen,T.,
            Uitterlinden,A.G., Van der Klauw,M.M., Vasan,R.S., Wallace,C.,
            Wallaschofski,H., Wichmann,H.E., Willemsen,G., Wurtz,P., Xu,C.,
            Yerges-Armstrong,L.M., Abecasis,G.R., Ahmadi,K.R., Boomsma,D.I.,
            Caulfield,M., Cookson,W.O., van Duijn,C.M., Froguel,P., Matsuda,K.,
            McCarthy,M.I., Meisinger,C., Mooser,V., Pietilainen,K.H.,
            Schumann,G., Snieder,H., Sternberg,M.J., Stolk,R.P., Thomas,H.C.,
            Thorsteinsdottir,U., Uda,M., Waeber,G., Wareham,N.J.,
            Waterworth,D.M., Watkins,H., Whitfield,J.B., Witteman,J.C.,
            Wolffenbuttel,B.H., Fox,C.S., Ala-Korpela,M., Stefansson,K.,
            Vollenweider,P., Volzke,H., Schadt,E.E., Scott,J., Jarvelin,M.R.,
            Elliott,P. and Kooner,J.S.
  CONSRTM   Alcohol Genome-wide Association (AlcGen) Consortium; Diabetes
            Genetics Replication and Meta-analyses (DIAGRAM+) Study; Genetic
            Investigation of Anthropometric Traits (GIANT) Consortium; Global
            Lipids Genetics Consortium; Genetics of Liver Disease (GOLD)
            Consortium; International Consortium for Blood Pressure
            (ICBP-GWAS); Meta-analyses of Glucose and Insulin-Related Traits
            Consortium (MAGIC)
  TITLE     Genome-wide association study identifies loci influencing
            concentrations of liver enzymes in plasma
  JOURNAL   Nat Genet 43 (11), 1131-1138 (2011)
   PUBMED   22001757
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 628)
  AUTHORS   Dastani,Z., Pajukanta,P., Marcil,M., Rudzicz,N., Ruel,I.,
            Bailey,S.D., Lee,J.C., Lemire,M., Faith,J., Platko,J., Rioux,J.,
            Hudson,T.J., Gaudet,D., Engert,J.C. and Genest,J.
  TITLE     Fine mapping and association studies of a high-density lipoprotein
            cholesterol linkage region on chromosome 16 in French-Canadian
            subjects
  JOURNAL   Eur J Hum Genet 18 (3), 342-347 (2010)
   PUBMED   19844255
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   4  (bases 1 to 628)
  AUTHORS   Jin,Q., Gao,G. and Mulder,K.M.
  TITLE     Requirement of a dynein light chain in TGFbeta/Smad3 signaling
  JOURNAL   J Cell Physiol 221 (3), 707-715 (2009)
   PUBMED   19711352
  REMARK    GeneRIF: Findings indicate that km23-2 (DYNLRB2) is required for
            Smad3-dependent TGFbeta signaling. Km23-2 has functions in TGFbeta
            signaling that are distinct from those for km23-1 (DYNLRB1).
REFERENCE   5  (bases 1 to 628)
  AUTHORS   Pfister,K.K., Fisher,E.M., Gibbons,I.R., Hays,T.S., Holzbaur,E.L.,
            McIntosh,J.R., Porter,M.E., Schroer,T.A., Vaughan,K.T.,
            Witman,G.B., King,S.M. and Vallee,R.B.
  TITLE     Cytoplasmic dynein nomenclature
  JOURNAL   J Cell Biol 171 (3), 411-413 (2005)
   PUBMED   16260502
REFERENCE   6  (bases 1 to 628)
  AUTHORS   Gevaert,K., Goethals,M., Martens,L., Van Damme,J., Staes,A.,
            Thomas,G.R. and Vandekerckhove,J.
  TITLE     Exploring proteomes and analyzing protein processing by mass
            spectrometric identification of sorted N-terminal peptides
  JOURNAL   Nat Biotechnol 21 (5), 566-569 (2003)
   PUBMED   12665801
REFERENCE   7  (bases 1 to 628)
  AUTHORS   Susalka,S.J., Nikulina,K., Salata,M.W., Vaughan,P.S., King,S.M.,
            Vaughan,K.T. and Pfister,K.K.
  TITLE     The roadblock light chain binds a novel region of the cytoplasmic
            Dynein intermediate chain
  JOURNAL   J Biol Chem 277 (36), 32939-32946 (2002)
   PUBMED   12077152
REFERENCE   8  (bases 1 to 628)
  AUTHORS   Wistow,G., Bernstein,S.L., Wyatt,M.K., Behal,A., Touchman,J.W.,
            Bouffard,G., Smith,D. and Peterson,K.
  TITLE     Expressed sequence tag analysis of adult human lens for the NEIBank
            Project: over 2000 non-redundant transcripts, novel genes and
            splice variants
  JOURNAL   Mol Vis 8, 171-184 (2002)
   PUBMED   12107413
  REMARK    Publication Status: Online-Only
REFERENCE   9  (bases 1 to 628)
  AUTHORS   Jiang,J., Yu,L., Huang,X., Chen,X., Li,D., Zhang,Y., Tang,L. and
            Zhao,S.
  TITLE     Identification of two novel human dynein light chain genes, DNLC2A
            and DNLC2B, and their expression changes in hepatocellular
            carcinoma tissues from 68 Chinese patients
  JOURNAL   Gene 281 (1-2), 103-113 (2001)
   PUBMED   11750132
  REMARK    GeneRIF: Among the total 68 liver cancer samples tested, DNLC2B was
            down-regulated in 28 cases.
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DB458006.1, HY201608.1 and AC108097.3.
            
            On Nov 22, 2018 this sequence version replaced NM_130897.2.
            
            Transcript Variant: This variant (1) encodes the shorter isoform
            (1).
            
            ##Evidence-Data-START##
            Transcript exon combination :: ERR279848.8574.1, HY201608.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA1970526
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000305904.11/ ENSP00000302936.6
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-458               DB458006.1         4-461
            459-626             HY201608.1         1-168               c
            627-628             AC108097.3         67266-67267         c
FEATURES             Location/Qualifiers
     source          1..628
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16q23.2"
     gene            1..628
                     /gene="DYNLRB2"
                     /gene_synonym="DNCL2B; DNLC2B; ROBLD2"
                     /note="dynein light chain roadblock-type 2"
                     /db_xref="GeneID:83657"
                     /db_xref="HGNC:HGNC:15467"
                     /db_xref="MIM:607168"
     exon            1..87
                     /gene="DYNLRB2"
                     /gene_synonym="DNCL2B; DNLC2B; ROBLD2"
                     /inference="alignment:Splign:2.1.0"
     CDS             85..375
                     /gene="DYNLRB2"
                     /gene_synonym="DNCL2B; DNLC2B; ROBLD2"
                     /note="isoform 1 is encoded by transcript variant 1;
                     dynein, cytoplasmic, light polypeptide 2B;
                     bithoraxoid-like protein; dynein light chain 2B,
                     cytoplasmic; roadblock domain-containing protein 2;
                     testicular tissue protein Li 53"
                     /codon_start=1
                     /product="dynein light chain roadblock-type 2 isoform 1"
                     /protein_id="NP_570967.1"
                     /db_xref="CCDS:CCDS10929.1"
                     /db_xref="GeneID:83657"
                     /db_xref="HGNC:HGNC:15467"
                     /db_xref="MIM:607168"
                     /translation="MAEVEETLKRIQSHKGVIGTMVVNAEGIPIRTTLDNSTTVQYAG
                     LLHHLTMKAKSTVRDIDPQNDLTFLRIRSKKHEIMVAPDKEYLLIVIQNPCE"
     exon            88..163
                     /gene="DYNLRB2"
                     /gene_synonym="DNCL2B; DNLC2B; ROBLD2"
                     /inference="alignment:Splign:2.1.0"
     exon            164..331
                     /gene="DYNLRB2"
                     /gene_synonym="DNCL2B; DNLC2B; ROBLD2"
                     /inference="alignment:Splign:2.1.0"
     exon            332..628
                     /gene="DYNLRB2"
                     /gene_synonym="DNCL2B; DNLC2B; ROBLD2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      439..444
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DYNLRB2"
                     /gene_synonym="DNCL2B; DNLC2B; ROBLD2"
                     /note="hexamer: ATTAAA"
     polyA_site      461
                     /gene="DYNLRB2"
                     /gene_synonym="DNCL2B; DNLC2B; ROBLD2"
                     /note="major polyA site"
     regulatory      563..568
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DYNLRB2"
                     /gene_synonym="DNCL2B; DNLC2B; ROBLD2"
                     /note="hexamer: AATAAG"
     polyA_site      580
                     /gene="DYNLRB2"
                     /gene_synonym="DNCL2B; DNLC2B; ROBLD2"
     regulatory      602..607
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DYNLRB2"
                     /gene_synonym="DNCL2B; DNLC2B; ROBLD2"
                     /note="hexamer: AATACA"
     polyA_site      628
                     /gene="DYNLRB2"
                     /gene_synonym="DNCL2B; DNLC2B; ROBLD2"
ORIGIN      
        1 gtctcctagc aacggcgggt agcgttgttg acatcccggg aggctgtgcc gccggcctga
       61 gcccagagtt tcgcggcctc cgcgatggca gaggtggagg aaaccttaaa gaggatccag
      121 agtcataaag gggttattgg aactatggtt gtaaatgcag aaggtattcc catccgaaca
      181 accttggaca actcaacaac tgttcaatat gcaggccttc ttcatcacct gacaatgaaa
      241 gccaaaagca cagttcgtga tattgatcct cagaacgacc tgacttttct taggatcaga
      301 tcaaagaaac atgaaatcat ggtagctcca gataaggaat atcttctgat cgtcattcag
      361 aatccatgtg aatagacctg cgatggccaa ggctgtttaa gcgacactgg gttggaaaca
      421 cttggctctc tcatgagtat taaaattcta tttcaatcta actgaccctt caaacattct
      481 tttctatttc tatatctaaa ctgttctgca tgtctcattt agtccctttt gattatattg
      541 tgaagttgta ctttagtgat acaataagtg aattctggta tatacgtctc tattgtctta
      601 taatacacaa aaccaaggat tctactaa
//
