2025-05-09 18:55:51, 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
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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
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