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2024-03-28 18:38:05, GGRNA : RefSeq release 60 (20130726)

LOCUS       NM_002145               1614 bp    mRNA    linear   PRI 17-APR-2013
DEFINITION  Homo sapiens homeobox B2 (HOXB2), mRNA.
ACCESSION   NM_002145
VERSION     NM_002145.3  GI:84570138
KEYWORDS    RefSeq.
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 1614)
  AUTHORS   Boimel,P.J., Cruz,C. and Segall,J.E.
  TITLE     A functional in vivo screen for regulators of tumor progression
            identifies HOXB2 as a regulator of tumor growth in breast cancer
  JOURNAL   Genomics 98 (3), 164-172 (2011)
   PUBMED   21672623
  REMARK    GeneRIF: HOXB2 acts as a negative tumor growth regulator,
            decreasing proliferation in mammary adenocarcinoma tumors.
REFERENCE   2  (bases 1 to 1614)
  AUTHORS   Doi,T., Puri,P., Bannigan,J. and Thompson,J.
  TITLE     HoxB2, HoxB4 and Alx4 genes are downregulated in the
            cadmium-induced omphalocele in the chick model
  JOURNAL   Pediatr. Surg. Int. 26 (10), 1017-1023 (2010)
   PUBMED   20625746
  REMARK    GeneRIF: Downregulation of HoxB2, HoxB4 and Alx4 expression during
            the narrow window of early embryogenesis may cause omphalocele in
            the Cd chick model by interfering with molecular signaling required
            for proper VBW formation.
REFERENCE   3  (bases 1 to 1614)
  AUTHORS   Johnatty,S.E., Beesley,J., Chen,X., Macgregor,S., Duffy,D.L.,
            Spurdle,A.B., deFazio,A., Gava,N., Webb,P.M., Rossing,M.A.,
            Doherty,J.A., Goodman,M.T., Lurie,G., Thompson,P.J., Wilkens,L.R.,
            Ness,R.B., Moysich,K.B., Chang-Claude,J., Wang-Gohrke,S.,
            Cramer,D.W., Terry,K.L., Hankinson,S.E., Tworoger,S.S.,
            Garcia-Closas,M., Yang,H., Lissowska,J., Chanock,S.J.,
            Pharoah,P.D., Song,H., Whitemore,A.S., Pearce,C.L., Stram,D.O.,
            Wu,A.H., Pike,M.C., Gayther,S.A., Ramus,S.J., Menon,U.,
            Gentry-Maharaj,A., Anton-Culver,H., Ziogas,A., Hogdall,E.,
            Kjaer,S.K., Hogdall,C., Berchuck,A., Schildkraut,J.M.,
            Iversen,E.S., Moorman,P.G., Phelan,C.M., Sellers,T.A.,
            Cunningham,J.M., Vierkant,R.A., Rider,D.N., Goode,E.L., Haviv,I.
            and Chenevix-Trench,G.
  CONSRTM   Ovarian Cancer Association Consortium; Australian Ovarian Cancer
            Study Group; Australian Cancer Study (Ovarian Cancer)
  TITLE     Evaluation of candidate stromal epithelial cross-talk genes
            identifies association between risk of serous ovarian cancer and
            TERT, a cancer susceptibility 'hot-spot'
  JOURNAL   PLoS Genet. 6 (7), E1001016 (2010)
   PUBMED   20628624
  REMARK    GeneRIF: Meta-analysis of gene-disease association. (HuGE
            Navigator)
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1614)
  AUTHORS   Pillas,D., Hoggart,C.J., Evans,D.M., O'Reilly,P.F., Sipila,K.,
            Lahdesmaki,R., Millwood,I.Y., Kaakinen,M., Netuveli,G., Blane,D.,
            Charoen,P., Sovio,U., Pouta,A., Freimer,N., Hartikainen,A.L.,
            Laitinen,J., Vaara,S., Glaser,B., Crawford,P., Timpson,N.J.,
            Ring,S.M., Deng,G., Zhang,W., McCarthy,M.I., Deloukas,P.,
            Peltonen,L., Elliott,P., Coin,L.J., Smith,G.D. and Jarvelin,M.R.
  TITLE     Genome-wide association study reveals multiple loci associated with
            primary tooth development during infancy
  JOURNAL   PLoS Genet. 6 (2), E1000856 (2010)
   PUBMED   20195514
  REMARK    GeneRIF: Observational study and genome-wide association study of
            gene-disease association. (HuGE Navigator)
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1614)
  AUTHORS   DU,C.Q., Huang,M.X. and Liu,W.J.
  TITLE     [Effect of ATRA on the expression of genes Hoxb2 and Hoxb4 in cord
            blood erythroid progenitors]
  JOURNAL   Zhongguo Shi Yan Xue Ye Xue Za Zhi 17 (6), 1516-1521 (2009)
   PUBMED   20030938
  REMARK    GeneRIF: hoxb2 and hoxb4 expression is related to erythroid
            hematopoiesis, and hoxb4 has greater relevance to erythroid
            hematopoiesis as compared with hoxb2.
REFERENCE   6  (bases 1 to 1614)
  AUTHORS   Lavelle,D., Ducksworth,J., Eves,E., Gomes,G., Keller,M., Heller,P.
            and DeSimone,J.
  TITLE     A homeodomain protein binds to gamma-globin gene regulatory
            sequences
  JOURNAL   Proc. Natl. Acad. Sci. U.S.A. 88 (16), 7318-7322 (1991)
   PUBMED   1871139
REFERENCE   7  (bases 1 to 1614)
  AUTHORS   Acampora,D., D'Esposito,M., Faiella,A., Pannese,M., Migliaccio,E.,
            Morelli,F., Stornaiuolo,A., Nigro,V., Simeone,A. and Boncinelli,E.
  TITLE     The human HOX gene family
  JOURNAL   Nucleic Acids Res. 17 (24), 10385-10402 (1989)
   PUBMED   2574852
REFERENCE   8  (bases 1 to 1614)
  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
REFERENCE   9  (bases 1 to 1614)
  AUTHORS   Boncinelli,E., Acampora,D., Pannese,M., D'Esposito,M., Somma,R.,
            Gaudino,G., Stornaiuolo,A., Cafiero,M., Faiella,A. and Simeone,A.
  TITLE     Organization of human class I homeobox genes
  JOURNAL   Genome 31 (2), 745-756 (1989)
   PUBMED   2576652
REFERENCE   10 (bases 1 to 1614)
  AUTHORS   Kongsuwan,K., Webb,E., Housiaux,P. and Adams,J.M.
  TITLE     Expression of multiple homeobox genes within diverse mammalian
            haemopoietic lineages
  JOURNAL   EMBO J. 7 (7), 2131-2138 (1988)
   PUBMED   2901346
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC103702.3, X16665.1 and
            BC038968.1.
            On Jan 6, 2006 this sequence version replaced gi:24497527.
            
            Summary: This gene is a member of the Antp homeobox family and
            encodes a nuclear 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. Increased expression of
            this gene is associated with pancreatic 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 :: BC038968.1, X16665.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           ERS025083, ERS025086 [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-52                AC103702.3         144468-144519
            53-1332             X16665.1           11-1290
            1333-1614           BC038968.1         1028-1309
FEATURES             Location/Qualifiers
     source          1..1614
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q21.32"
     gene            1..1614
                     /gene="HOXB2"
                     /gene_synonym="Hox-2.8; HOX2; HOX2H; K8"
                     /note="homeobox B2"
                     /db_xref="GeneID:3212"
                     /db_xref="HGNC:5113"
                     /db_xref="HPRD:00854"
                     /db_xref="MIM:142967"
     exon            1..511
                     /gene="HOXB2"
                     /gene_synonym="Hox-2.8; HOX2; HOX2H; K8"
                     /inference="alignment:Splign:1.39.8"
     STS             20..1349
                     /gene="HOXB2"
                     /gene_synonym="Hox-2.8; HOX2; HOX2H; K8"
                     /db_xref="UniSTS:481571"
     STS             62..1245
                     /gene="HOXB2"
                     /gene_synonym="Hox-2.8; HOX2; HOX2H; K8"
                     /db_xref="UniSTS:486129"
     misc_feature    79..81
                     /gene="HOXB2"
                     /gene_synonym="Hox-2.8; HOX2; HOX2H; K8"
                     /note="upstream in-frame stop codon"
     STS             101..1210
                     /gene="HOXB2"
                     /gene_synonym="Hox-2.8; HOX2; HOX2H; K8"
                     /db_xref="UniSTS:482023"
     CDS             121..1191
                     /gene="HOXB2"
                     /gene_synonym="Hox-2.8; HOX2; HOX2H; K8"
                     /note="homeo box B2; K8 home protein; homeo box 2H;
                     homeobox protein Hox-2H; homeobox protein Hox-2.8"
                     /codon_start=1
                     /product="homeobox protein Hox-B2"
                     /protein_id="NP_002136.1"
                     /db_xref="GI:4504465"
                     /db_xref="CCDS:CCDS11527.1"
                     /db_xref="GeneID:3212"
                     /db_xref="HGNC:5113"
                     /db_xref="HPRD:00854"
                     /db_xref="MIM:142967"
                     /translation="
MNFEFEREIGFINSQPSLAECLTSFPAVLETFQTSSIKESTLIPPPPPFEQTFPSLQPGASTLQRPRSQKRAEDGPALPPPPPPPLPAAPPAPEFPWMKEKKSAKKPSQSATSPSPAASAVPASGVGSPADGLGLPEAGGGGARRLRTAYTNTQLLELEKEFHFNKYLCRPRRVEIAALLDLTERQVKVWFQNRRMKHKRQTQHREPPDGEPACPGALEDICDPAEEPAASPGGPSASRAAWEACCHPPEVVPGALSADPRPLAVRLEGAGASSPGCALRGAGGLEPGPLPEDVFSGRQDSPFLPDLNFFAADSCLQLSGGLSPSLQGSLDSPVPFSEEELDFFTSTLCAIDLQFP
"
     misc_feature    400..417
                     /gene="HOXB2"
                     /gene_synonym="Hox-2.8; HOX2; HOX2H; K8"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (P14652.1);
                     Region: Antp-type hexapeptide"
     misc_feature    562..723
                     /gene="HOXB2"
                     /gene_synonym="Hox-2.8; HOX2; HOX2H; K8"
                     /note="Homeodomain;  DNA binding domains involved in the
                     transcriptional regulation of key eukaryotic developmental
                     processes; may bind to DNA as monomers or as homo- and/or
                     heterodimers, in a sequence-specific manner; Region:
                     homeodomain; cd00086"
                     /db_xref="CDD:28970"
     misc_feature    order(562..564,568..570,619..621,637..639,676..678,
                     682..687,694..699,703..711,715..720)
                     /gene="HOXB2"
                     /gene_synonym="Hox-2.8; HOX2; HOX2H; K8"
                     /note="DNA binding site [nucleotide binding]"
                     /db_xref="CDD:28970"
     misc_feature    order(565..567,685..687,694..699,706..708)
                     /gene="HOXB2"
                     /gene_synonym="Hox-2.8; HOX2; HOX2H; K8"
                     /note="specific DNA base contacts [nucleotide binding];
                     other site"
                     /db_xref="CDD:28970"
     STS             171..245
                     /gene="HOXB2"
                     /gene_synonym="Hox-2.8; HOX2; HOX2H; K8"
                     /standard_name="Hoxb2"
                     /db_xref="UniSTS:536649"
     variation       278
                     /gene="HOXB2"
                     /gene_synonym="Hox-2.8; HOX2; HOX2H; K8"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:80244742"
     exon            512..1604
                     /gene="HOXB2"
                     /gene_synonym="Hox-2.8; HOX2; HOX2H; K8"
                     /inference="alignment:Splign:1.39.8"
     variation       933
                     /gene="HOXB2"
                     /gene_synonym="Hox-2.8; HOX2; HOX2H; K8"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:34801978"
     variation       1002
                     /gene="HOXB2"
                     /gene_synonym="Hox-2.8; HOX2; HOX2H; K8"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:35384218"
     variation       1219
                     /gene="HOXB2"
                     /gene_synonym="Hox-2.8; HOX2; HOX2H; K8"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:2229302"
     STS             1239..1377
                     /gene="HOXB2"
                     /gene_synonym="Hox-2.8; HOX2; HOX2H; K8"
                     /standard_name="STS-X16665"
                     /db_xref="UniSTS:35819"
     variation       1333
                     /gene="HOXB2"
                     /gene_synonym="Hox-2.8; HOX2; HOX2H; K8"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:1042815"
     variation       1510
                     /gene="HOXB2"
                     /gene_synonym="Hox-2.8; HOX2; HOX2H; K8"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:1042818"
     variation       1526
                     /gene="HOXB2"
                     /gene_synonym="Hox-2.8; HOX2; HOX2H; K8"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:1042822"
     polyA_signal    1576..1581
                     /gene="HOXB2"
                     /gene_synonym="Hox-2.8; HOX2; HOX2H; K8"
     polyA_signal    1580..1585
                     /gene="HOXB2"
                     /gene_synonym="Hox-2.8; HOX2; HOX2H; K8"
     polyA_site      1604
                     /gene="HOXB2"
                     /gene_synonym="Hox-2.8; HOX2; HOX2H; K8"
ORIGIN      
aatctccccctcccaaaatcgctccattacataaatcggggggggtgcaggaggggggtcccttccgatcctccctcctgacgccccccccagcagccccctcccccaccattgaaagccatgaattttgaatttgagagggagattgggtttataaacagccagccgtcgctcgccgagtgtctgacttccttccccgctgtcttggagacatttcaaacttcatcaatcaaggagtcgacattaattcctcctcctcctcctttcgagcaaaccttccccagcctccagcccggcgcctccacccttcagagacccaggagccaaaagcgagccgaagatgggcctgctctgccgccgccaccgccgccgccactccccgctgcccccccggcccccgagttcccttggatgaaagagaagaaatccgccaagaaacccagccaatccgccacgtctccttctccggccgcctccgccgttccggcctccggggtcggatcgcctgcagatggcctgggactgccggaggctggtggcggcggggcgcgcaggctgcgcacggcttacaccaacacgcagctgctggaactggagaaggaattccactttaataagtacctgtgccggccacgccgcgtcgagatcgcggccttgctggacctcaccgaaaggcaggtcaaagtctggtttcagaaccggcgcatgaagcacaagcggcagacgcagcaccgagagccgccggatggggagcctgcctgcccgggagccctggaggacatctgcgaccctgccgaggaacccgcggccagcccgggcggcccctccgcctcgcgggcggcgtgggaagcctgctgtcacccgccggaggtggtgccgggggccttaagcgcggacccccggcctttagccgttcgcttagagggcgcaggcgcgtcgagtcccggctgcgcgctgcgcggggccggcgggctggagcccgggccattgccagaagacgtcttctcggggcgccaggattcacctttccttcccgacctcaacttcttcgcggccgactcctgtctccagctatccggaggcctctcccctagcctacagggttctctcgacagcccggtccctttttccgaggaagagctggattttttcaccagtacgctctgtgccatcgacctgcagtttccctaacctgtttcctcctcccggtcctttcgacccccgcgctccttggccgtctactggaaaaatcgagcctctcccaccctcagtcgcatagacttatgtgttttgctaaaattcaggtattactgaattagcgtttaatccactccctttcttcttcttctaaaatattgggcactcggttatcttttaaaattcacacagaaaaattccgtttggtagactccttccaatgaaatctcaggaataattaaactctagggggactttcttaaaaataactagagggacctattttcctcttttttatgttttagactgtagattatttattaaaattctttaataataggaaaaggggaaagtatttattgtacattattttcatagattaaataaatgtctttataataccaaaaaaaaaaaaaa
//

Annotations:

ANNOTATIONS from NCBI Entrez Gene (20130726):
            GeneID:3212 -> Molecular function: GO:0003700 [sequence-specific DNA binding transcription factor activity] evidence: IEA
            GeneID:3212 -> Molecular function: GO:0043565 [sequence-specific DNA binding] evidence: IEA
            GeneID:3212 -> Biological process: GO:0002011 [morphogenesis of an epithelial sheet] evidence: IEA
            GeneID:3212 -> Biological process: GO:0006351 [transcription, DNA-dependent] evidence: IEA
            GeneID:3212 -> Biological process: GO:0007275 [multicellular organismal development] evidence: TAS
            GeneID:3212 -> Biological process: GO:0008015 [blood circulation] evidence: TAS
            GeneID:3212 -> Biological process: GO:0009952 [anterior/posterior pattern specification] evidence: IEA
            GeneID:3212 -> Biological process: GO:0009953 [dorsal/ventral pattern formation] evidence: IEA
            GeneID:3212 -> Biological process: GO:0021569 [rhombomere 3 development] evidence: IEA
            GeneID:3212 -> Biological process: GO:0021570 [rhombomere 4 development] evidence: IEA
            GeneID:3212 -> Biological process: GO:0021612 [facial nerve structural organization] evidence: IEA
            GeneID:3212 -> Biological process: GO:0048704 [embryonic skeletal system morphogenesis] evidence: IEA
            GeneID:3212 -> Biological process: GO:0048857 [neural nucleus development] evidence: IEA
            GeneID:3212 -> Cellular component: GO:0005634 [nucleus] evidence: IEA

by @meso_cacase at DBCLS
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