LOCUS       NM_018952               1676 bp    mRNA    linear   PRI 09-OCT-2024
DEFINITION  Homo sapiens homeobox B6 (HOXB6), transcript variant 1, mRNA.
ACCESSION   NM_018952
VERSION     NM_018952.5
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 1676)
  AUTHORS   Roubroeks,J.A.Y., Smith,A.R., Smith,R.G., Pishva,E., Ibrahim,Z.,
            Sattlecker,M., Hannon,E.J., Kloszewska,I., Mecocci,P., Soininen,H.,
            Tsolaki,M., Vellas,B., Wahlund,L.O., Aarsland,D., Proitsi,P.,
            Hodges,A., Lovestone,S., Newhouse,S.J., Dobson,R.J.B., Mill,J., van
            den Hove,D.L.A. and Lunnon,K.
  TITLE     An epigenome-wide association study of Alzheimer's disease blood
            highlights robust DNA hypermethylation in the HOXB6 gene
  JOURNAL   Neurobiol Aging 95, 26-45 (2020)
   PUBMED   32745807
  REMARK    GeneRIF: An epigenome-wide association study of Alzheimer's disease
            blood highlights robust DNA hypermethylation in the HOXB6 gene.
REFERENCE   2  (bases 1 to 1676)
  AUTHORS   Li,Y. and Jiang,A.
  TITLE     ST8SIA6-AS1 promotes hepatocellular carcinoma by absorbing
            miR-5195-3p to regulate HOXB6
  JOURNAL   Cancer Biol Ther 21 (7), 647-655 (2020)
   PUBMED   32420798
  REMARK    GeneRIF: ST8SIA6-AS1 promotes hepatocellular carcinoma by absorbing
            miR-5195-3p to regulate HOXB6.
REFERENCE   3  (bases 1 to 1676)
  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   4  (bases 1 to 1676)
  AUTHORS   Mo,J.S., Park,Y.R. and Chae,S.C.
  TITLE     MicroRNA 196B Regulates HOXA5, HOXB6 and GLTP Expression Levels in
            Colorectal Cancer Cells
  JOURNAL   Pathol Oncol Res 25 (3), 953-959 (2019)
   PUBMED   29532406
  REMARK    GeneRIF: HOXA5, HOXB6, and GLTP were direct target genes of MIR196B
            in CRC cells.
REFERENCE   5  (bases 1 to 1676)
  AUTHORS   Yin,Y., Morgunova,E., Jolma,A., Kaasinen,E., Sahu,B.,
            Khund-Sayeed,S., Das,P.K., Kivioja,T., Dave,K., Zhong,F.,
            Nitta,K.R., Taipale,M., Popov,A., Ginno,P.A., Domcke,S., Yan,J.,
            Schubeler,D., Vinson,C. and Taipale,J.
  TITLE     Impact of cytosine methylation on DNA binding specificities of
            human transcription factors
  JOURNAL   Science 356 (6337) (2017)
   PUBMED   28473536
REFERENCE   6  (bases 1 to 1676)
  AUTHORS   Kaur,S., Singh,G., Stock,J.L., Schreiner,C.M., Kier,A.B.,
            Yager,K.L., Mucenski,M.L., Scott,W.J. Jr. and Potter,S.S.
  TITLE     Dominant mutation of the murine Hox-2.2 gene results in
            developmental abnormalities
  JOURNAL   J Exp Zool 264 (3), 323-336 (1992)
   PUBMED   1358998
REFERENCE   7  (bases 1 to 1676)
  AUTHORS   Shen,W.F., Detmer,K., Simonitch-Eason,T.A., Lawrence,H.J. and
            Largman,C.
  TITLE     Alternative splicing of the HOX 2.2 homeobox gene in human
            hematopoietic cells and murine embryonic and adult tissues
  JOURNAL   Nucleic Acids Res 19 (3), 539-545 (1991)
   PUBMED   1672751
REFERENCE   8  (bases 1 to 1676)
  AUTHORS   Peverali,F.A., D'Esposito,M., Acampora,D., Bunone,G., Negri,M.,
            Faiella,A., Stornaiuolo,A., Pannese,M., Migliaccio,E., Simeone,A.
            et al.
  TITLE     Expression of HOX homeogenes in human neuroblastoma cell culture
            lines
  JOURNAL   Differentiation 45 (1), 61-69 (1990)
   PUBMED   1981366
REFERENCE   9  (bases 1 to 1676)
  AUTHORS   Shen,W.F., Largman,C., Lowney,P., Corral,J.C., Detmer,K.,
            Hauser,C.A., Simonitch,T.A., Hack,F.M. and Lawrence,H.J.
  TITLE     Lineage-restricted expression of homeobox-containing genes in human
            hematopoietic cell lines
  JOURNAL   Proc Natl Acad Sci U S A 86 (21), 8536-8540 (1989)
   PUBMED   2573064
REFERENCE   10 (bases 1 to 1676)
  AUTHORS   Giampaolo,A., Acampora,D., Zappavigna,V., Pannese,M.,
            D'Esposito,M., Care,A., Faiella,A., Stornaiuolo,A., Russo,G.,
            Simeone,A. et al.
  TITLE     Differential expression of human HOX-2 genes along the
            anterior-posterior axis in embryonic central nervous system
  JOURNAL   Differentiation 40 (3), 191-197 (1989)
   PUBMED   2570724
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC103702.3, BC014651.1,
            AJ270993.1 and AI352188.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_018952.4.
            
            Summary: This gene is a member of the Antp homeobox family and
            encodes a protein with a homeobox DNA-binding domain. It is
            included in a cluster of homeobox B genes located on chromosome 17.
            The encoded protein functions as a sequence-specific transcription
            factor that is involved in development, including that of lung and
            skin, and has been localized to both the nucleus and cytoplasm.
            Altered expression of this gene or a change in the subcellular
            localization of its protein is associated with some cases of acute
            myeloid leukemia and colorectal cancer. [provided by RefSeq, Jul
            2008].
            
            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 :: BC014651.1, BG332853.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA2144335
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000225648.4/ ENSP00000225648.3
            RefSeq Select criteria :: based on conservation
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-14                AC103702.3         84513-84526
            15-1064             BC014651.1         1-1050
            1065-1147           AJ270993.1         2768-2850
            1148-1622           BC014651.1         1134-1608
            1623-1674           BC014651.1         1612-1663
            1675-1676           AI352188.1         185-186
FEATURES             Location/Qualifiers
     source          1..1676
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q21.32"
     gene            1..1676
                     /gene="HOXB6"
                     /gene_synonym="Hox-2.2; HOX2; HOX2B; HU-2"
                     /note="homeobox B6"
                     /db_xref="GeneID:3216"
                     /db_xref="HGNC:HGNC:5117"
                     /db_xref="MIM:142961"
     exon            1..125
                     /gene="HOXB6"
                     /gene_synonym="Hox-2.2; HOX2; HOX2B; HU-2"
                     /inference="alignment:Splign:2.1.0"
     exon            126..261
                     /gene="HOXB6"
                     /gene_synonym="Hox-2.2; HOX2; HOX2B; HU-2"
                     /inference="alignment:Splign:2.1.0"
     exon            262..754
                     /gene="HOXB6"
                     /gene_synonym="Hox-2.2; HOX2; HOX2B; HU-2"
                     /inference="alignment:Splign:2.1.0"
     CDS             340..1014
                     /gene="HOXB6"
                     /gene_synonym="Hox-2.2; HOX2; HOX2B; HU-2"
                     /note="homeo box B6; homeo box 2B; homeobox protein Hu-2;
                     homeobox protein Hox-2B; homeobox protein Hox-2.2"
                     /codon_start=1
                     /product="homeobox protein Hox-B6"
                     /protein_id="NP_061825.2"
                     /db_xref="CCDS:CCDS11531.1"
                     /db_xref="GeneID:3216"
                     /db_xref="HGNC:HGNC:5117"
                     /db_xref="MIM:142961"
                     /translation="MSSYFVNSTFPVTLASGQESFLGQLPLYSSGYADPLRHYPAPYG
                     PGPGQDKGFATSSYYPPAGGGYGRAAPCDYGPAPAFYREKESACALSGADEQPPFHPE
                     PRKSDCAQDKSVFGETEEQKCSTPVYPWMQRMNSCNSSSFGPSGRRGRQTYTRYQTLE
                     LEKEFHYNRYLTRRRRIEIAHALCLTERQIKIWFQNRRMKWKKESKLLSASQLSAEEE
                     EEKQAE"
     exon            755..1676
                     /gene="HOXB6"
                     /gene_synonym="Hox-2.2; HOX2; HOX2B; HU-2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1656..1661
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HOXB6"
                     /gene_synonym="Hox-2.2; HOX2; HOX2B; HU-2"
                     /note="hexamer: AATAAA"
     polyA_site      1676
                     /gene="HOXB6"
                     /gene_synonym="Hox-2.2; HOX2; HOX2B; HU-2"
                     /note="major polyA site"
ORIGIN      
        1 agcattcttt tggacaccac acctaggtcg gagcactgtc gtccttcagg gctccagcct
       61 cttgatattt ttgtacttca gtatcagctc gatagagcaa aagagagaga ggacgagaga
      121 gggggtcaga gaaggggaag caacggctct cacgttggga caatattatc tggaagctga
      181 agaagaaact gaatactcct tccttcctcc ccacccattc ctttaaatcc ggagggggaa
      241 aaaatcccaa ggtctgcaaa ggcgcggcgc tcggactata aaacacaaca aatcataaac
      301 ccggcggagc agcagcggcc gcgcgcgcct cccctcccaa tgagttccta tttcgtgaac
      361 tccaccttcc ccgtcactct ggccagcggg caggagtcct tcctgggcca gctaccgctc
      421 tattcgtcgg gctatgcgga cccgctgaga cattaccccg cgccctacgg gccagggccg
      481 ggccaggaca agggctttgc cacttcctcc tattacccgc cggcgggcgg tggctacggc
      541 cgagcggcgc cctgcgacta cgggccggcg ccggccttct accgcgagaa agagtcggcc
      601 tgcgcactct ccggcgccga cgagcagccc ccgttccacc ccgagccgcg gaagtcggac
      661 tgcgcgcagg acaagagcgt gttcggcgag acagaagagc agaagtgctc cactccggtc
      721 tacccgtgga tgcagcggat gaattcgtgc aacagttcct cctttgggcc cagcggccgg
      781 cgaggccgcc agacatacac acgttaccag acgctggagc tggagaagga gtttcactac
      841 aatcgctacc tgacgcggcg gcggcgcatc gagatcgcgc acgccctgtg cctgacggag
      901 aggcagatca agatatggtt ccagaaccga cgcatgaagt ggaaaaagga gagcaaactg
      961 ctcagcgcgt ctcagctcag tgccgaggag gaggaagaaa aacaggccga gtgaaggtgc
     1021 tggaaaggga gggaggacgc gaggggaaag gcctgtgggg agccgagggc gtcagagaga
     1081 cccgggaagg aaggctctcg ggtgggggag ccaggagacc tgctctccgg cgcagacagg
     1141 cggggcccag cgctctcctg gacgcccccg cccgcacagc tcccggcggg tgctctgagg
     1201 cctcactact cgagcccacc cagcatcccg cgcgcccttc cttcccgagg aactcgcctc
     1261 agcctgatca ggcttcctgg tgagaactga ggagcggact cacttgatgt ttcctggaag
     1321 cagagcaaaa tgctcttgtc cctgtcgcgt ctcattttgt ccatgtcccc cgtgcacggt
     1381 tcaatggtag attcgctgtc ccctcagcgg gggccttgaa gactccctga tcccagacct
     1441 gtcgtctctc ccaccccctc cccaaagcca ctggaaggag cacatactac ctagaagtaa
     1501 gaagaggagc ctcagaagaa aacaaagttc tattttatta attttctatg tgttgtgttt
     1561 gtagtcttgt cttagctctg gacgtgaaat acttcgatga tgatgatgat gatgatgatg
     1621 ataataataa taataataac aacaacaaca acaataataa agatgtgaaa actcga
//
