LOCUS       NM_016940               3065 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens RWD domain containing 2B (RWDD2B), transcript variant
            1, mRNA.
ACCESSION   NM_016940
VERSION     NM_016940.3
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 3065)
  AUTHORS   Parker,E., Hofer,I.M.J., Rice,S.J., Earl,L., Anjum,S.A.,
            Deehan,D.J. and Loughlin,J.
  TITLE     Multi-Tissue Epigenetic and Gene Expression Analysis Combined With
            Epigenome Modulation Identifies RWDD2B as a Target of
            Osteoarthritis Susceptibility
  JOURNAL   Arthritis Rheumatol 73 (1), 100-109 (2021)
   PUBMED   32755071
  REMARK    GeneRIF: Multi-Tissue Epigenetic and Gene Expression Analysis
            Combined With Epigenome Modulation Identifies RWDD2B as a Target of
            Osteoarthritis Susceptibility.
REFERENCE   2  (bases 1 to 3065)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (bases 1 to 3065)
  AUTHORS   Fragoza,R., Das,J., Wierbowski,S.D., Liang,J., Tran,T.N., Liang,S.,
            Beltran,J.F., Rivera-Erick,C.A., Ye,K., Wang,T.Y., Yao,L., Mort,M.,
            Stenson,P.D., Cooper,D.N., Wei,X., Keinan,A., Schimenti,J.C.,
            Clark,A.G. and Yu,H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3065)
  AUTHORS   Yu,H., Tardivo,L., Tam,S., Weiner,E., Gebreab,F., Fan,C.,
            Svrzikapa,N., Hirozane-Kishikawa,T., Rietman,E., Yang,X.,
            Sahalie,J., Salehi-Ashtiani,K., Hao,T., Cusick,M.E., Hill,D.E.,
            Roth,F.P., Braun,P. and Vidal,M.
  TITLE     Next-generation sequencing to generate interactome datasets
  JOURNAL   Nat Methods 8 (6), 478-480 (2011)
   PUBMED   21516116
REFERENCE   5  (bases 1 to 3065)
  AUTHORS   Orti,R., Rachidi,M., Vialard,F., Toyama,K., Lopes,C., Taudien,S.,
            Rosenthal,A., Yaspo,M.L., Sinet,P.M. and Delabar,J.M.
  TITLE     Characterization of a novel gene, C21orf6, mapping to a critical
            region of chromosome 21q22.1 involved in the monosomy 21 phenotype
            and of its murine ortholog, orf5
  JOURNAL   Genomics 64 (2), 203-210 (2000)
   PUBMED   10729227
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL355727.1, BC017912.1, BC012546.1 and AF129075.3.
            
            On Nov 23, 2018 this sequence version replaced NM_016940.2.
            
            Transcript Variant: This variant (1) encodes the longer isoform
            (1).
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660807.102720.1,
                                           SRR1803612.63148.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000493196.2/ ENSP00000418693.1
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-20                AL355727.1         17-36
            21-1245             BC017912.1         22-1246
            1246-1690           BC012546.1         1229-1673
            1691-3065           AF129075.3         20051-21425         c
FEATURES             Location/Qualifiers
     source          1..3065
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="21"
                     /map="21q21.3"
     gene            1..3065
                     /gene="RWDD2B"
                     /gene_synonym="C21orf6; GL011"
                     /note="RWD domain containing 2B"
                     /db_xref="GeneID:10069"
                     /db_xref="HGNC:HGNC:1302"
                     /db_xref="MIM:617843"
     exon            1..139
                     /gene="RWDD2B"
                     /gene_synonym="C21orf6; GL011"
                     /inference="alignment:Splign:2.1.0"
     CDS             73..1032
                     /gene="RWDD2B"
                     /gene_synonym="C21orf6; GL011"
                     /note="isoform 1 is encoded by transcript variant 1; RWD
                     domain-containing protein 2B"
                     /codon_start=1
                     /product="RWD domain-containing protein 2B isoform 1"
                     /protein_id="NP_058636.1"
                     /db_xref="CCDS:CCDS13582.1"
                     /db_xref="GeneID:10069"
                     /db_xref="HGNC:HGNC:1302"
                     /db_xref="MIM:617843"
                     /translation="MKIELSMQPWNPGYSSEGATAQETYTCPKMIEMEQAEAQLAELD
                     LLASMFPGENELIVNDQLAVAELKDCIEKKTMEGRSSKVYFTINMNLDVSDEKMAMFS
                     LACILPFKYPAVLPEITVRSVLLSRSQQTQLNTDLTAFLQKHCHGDVCILNATEWVRE
                     HASGYVSRDTSSSPTTGSTVQSVDLIFTRLWIYSHHIYNKCKRKNILEWAKELSLSGF
                     SMPGKPGVVCVEGPQSACEEFWSRLRKLNWKRILIRHREDIPFDGTNDETERQRKFSI
                     FEEKVFSVNGARGNHMDFGQLYQFLNTKGCGDVFQMFFGVEGQ"
     exon            140..366
                     /gene="RWDD2B"
                     /gene_synonym="C21orf6; GL011"
                     /inference="alignment:Splign:2.1.0"
     exon            367..434
                     /gene="RWDD2B"
                     /gene_synonym="C21orf6; GL011"
                     /inference="alignment:Splign:2.1.0"
     exon            435..797
                     /gene="RWDD2B"
                     /gene_synonym="C21orf6; GL011"
                     /inference="alignment:Splign:2.1.0"
     exon            798..3065
                     /gene="RWDD2B"
                     /gene_synonym="C21orf6; GL011"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1670..1675
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RWDD2B"
                     /gene_synonym="C21orf6; GL011"
                     /note="hexamer: AATAAA"
     polyA_site      1690
                     /gene="RWDD2B"
                     /gene_synonym="C21orf6; GL011"
                     /note="major polyA site"
     regulatory      2339..2344
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RWDD2B"
                     /gene_synonym="C21orf6; GL011"
                     /note="hexamer: AATAAA"
     polyA_site      2376
                     /gene="RWDD2B"
                     /gene_synonym="C21orf6; GL011"
     regulatory      2613..2618
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RWDD2B"
                     /gene_synonym="C21orf6; GL011"
                     /note="hexamer: AATAAA"
     polyA_site      2632
                     /gene="RWDD2B"
                     /gene_synonym="C21orf6; GL011"
     regulatory      2650..2655
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RWDD2B"
                     /gene_synonym="C21orf6; GL011"
                     /note="hexamer: TATAAA"
     polyA_site      2671
                     /gene="RWDD2B"
                     /gene_synonym="C21orf6; GL011"
     regulatory      3046..3051
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RWDD2B"
                     /gene_synonym="C21orf6; GL011"
                     /note="hexamer: CATAAA"
     polyA_site      3065
                     /gene="RWDD2B"
                     /gene_synonym="C21orf6; GL011"
ORIGIN      
        1 cggtaggtcg ccagctgagg cggtttgtaa gttttgggtc gcagtatgct agaattttga
       61 ggctcccttc tgatgaaaat tgagctgtcc atgcagccat ggaacccggg ttacagcagt
      121 gagggggcca cggctcaaga aacttacaca tgtccaaaaa tgattgagat ggagcaggcg
      181 gaggcccagc ttgctgagtt agacctgcta gccagtatgt tccctggtga gaatgagctc
      241 atagtgaatg accagctggc tgtagcagaa ctgaaagatt gtattgaaaa gaagacaatg
      301 gaggggcgat cttcaaaagt ctactttact atcaatatga acctggatgt atctgacgaa
      361 aaaatggcga tgttttctct ggcctgtatt cttcccttta aatacccggc agttctgcct
      421 gaaattactg tcagatcagt attattgagt agatcccagc agactcagct gaacacagat
      481 ctgactgcat tcctgcaaaa acattgtcat ggagatgttt gtatactgaa tgccacagag
      541 tgggttagag aacacgcctc tggctatgtc agcagagata cttcatcttc acccaccaca
      601 ggaagcacag tccagtcagt tgacctcatc ttcacgagac tctggatcta cagccatcat
      661 atctataaca aatgcaaaag aaagaatatt ctagagtggg caaaggagct ttccctgtct
      721 gggtttagca tgcctggaaa acctggtgtt gtttgtgtgg aaggcccaca aagtgcctgt
      781 gaagaattct ggtcaagact cagaaaatta aactggaaga gaattttaat tcgccatcga
      841 gaagacattc cttttgatgg tacaaatgat gaaacggaaa gacaaaggaa attttccatt
      901 tttgaagaaa aagtgttcag tgttaatgga gccaggggaa accacatgga ctttggtcag
      961 ctctatcagt tcttaaacac caaaggatgt ggggatgttt tccagatgtt ctttggtgta
     1021 gaaggacaat gacatcaaga gtagttgaaa gtatcttgcc actgttggcc ttttgatttt
     1081 tttttcccac tttttcttga aagattaagt aattttattt tagttccatt ctagaatgtt
     1141 ggggagtggg gcacaagaaa aaatagtata gctgaaatgc atctgttaaa aatgtcatga
     1201 ttgaaagcag aactgagttt caaattacaa ccttaaaatt gttgttagat atttcttcac
     1261 atatcagctg cccattttga aaaagaaatt atccataaag gtaatgttgg tgctccaatt
     1321 tgccagccat tcccaacccc cttctccctt acctgccttc actaaagaac ccagaaaagc
     1381 taattgctcc cctttcagcc tctgttgcaa ctaacaactc tcagtggcct caggacacag
     1441 ctttggcctt gggaattctg ggaaaacttt tacttcctga ttaaagatac atatgcagct
     1501 aggccacctc ctccccccct tactgccata aacaccaaag tgatgactgg agctggagga
     1561 gttatttgaa ccacgacgaa gggccaagag aaccacgaag atgccagttg ccacattgtt
     1621 gagctgctga cccaacacca gccattgcct gtctctaaac atcttatgaa ataaaaccag
     1681 ttttgtttaa tttctaggct ttttttttaa atagacggag tcttgctctg tcgcccgggc
     1741 tagagtgcaa tggtgcaacc tccgctcact gcaacctccg cctcccaagt tcaagcgatt
     1801 ctcctgcctc agcctcccaa gtagctgaga ttacaggcgc ccgccaccat gcctggctaa
     1861 tttttgtgtt ttttagtaga gacagggtgt caccattttg gccaggctgg tcttgaactc
     1921 ctgacctcag gtgatcctcc cacctcggct tcccaatgtg cttggattac aggcataagc
     1981 caccgtgcct ggccaatatc taggcttttt actagcagtt gaaagctagt ttgtcaaata
     2041 gagtttttca gagctttagt tttgcattta ccccagcctt ttgatacaca aataggtgaa
     2101 gtttttctga agtggagttt gcagttcccc actttttgta tactcacgct ctgcccctgc
     2161 tcctgggctt gcctcagaca aggctgaggc attagtaggg cttaaacttt tttaacaagc
     2221 ctcaacaatt catcaaatta gtaatttaga aaatttgttt ggcaaattgt attctgacat
     2281 tttttgttct ggaaatggct ttctgtacat ttatttttgc caaattgacc tagcattaaa
     2341 taaacacacc acccagtttt tgaggacctc cataaaccag ttagttccaa aagcatttat
     2401 tatttgctaa tttgctagca tgcaggttga tgcaggttga taccaggtgt tggatatttc
     2461 ttgaccagtc agacttggtt aaggaatgga gttggggtga gagacaatgc attaagttag
     2521 taaaaggttg taggcaaact atgcttatca caaaatgaat cagttagtaa aagacagcat
     2581 atattatgta atacaatgta gaaatctgaa ggaataaaat ggaagaaggc aatgtggata
     2641 gatcttaaat ataaaggtgg ttaaacataa atgagaatca gaatggtatt taaagcacag
     2701 tgcttgtatt ggacctaaat cttatgtacg tccccagatt tcctccctgc tgccctgtcc
     2761 tatcgccccg tcagttgccc tggaaatccc agttcctctg ctgccaccag acagccaggt
     2821 ggaccagttg tgtgtctagt ttctgattcc tccagcgact aacagatttg tatgaaatac
     2881 cctacagaga atggaatctg acatccctac caccaaaggg ggcagatgat gcatatatta
     2941 ctttaagcag ctaaagtggc agctaaactg ctaaaacttt ttcagtctct ctacattata
     3001 ttaaaaacca gattgctatg tataatatgc agatctcaaa tgtcacataa acacatagaa
     3061 tgcaa
//
