2025-05-09 19:20:43, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_024016 1834 bp mRNA linear PRI 16-JUN-2013 DEFINITION Homo sapiens homeobox B8 (HOXB8), mRNA. ACCESSION NM_024016 VERSION NM_024016.3 GI:85543349 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 1834) AUTHORS Stavnes,H.T., Holth,A., Don,T., Kaern,J., Vaksman,O., Reich,R., Trope',C.G. and Davidson,B. TITLE HOXB8 expression in ovarian serous carcinoma effusions is associated with shorter survival JOURNAL Gynecol. Oncol. 129 (2), 358-363 (2013) PUBMED 23438671 REMARK GeneRIF: HOXB5 and HOXB8 are frequently expressed in ovarian serous carcinoma, with anatomic site-related differences for cytoplasmic staining. HOXB8 expression is associated with shorter survival in metastatic serous carcinoma. REFERENCE 2 (bases 1 to 1834) AUTHORS Kosaki,K., Kosaki,R., Suzuki,T., Yoshihashi,H., Takahashi,T., Sasaki,K., Tomita,M., McGinnis,W. and Matsuo,N. TITLE Complete mutation analysis panel of the 39 human HOX genes JOURNAL Teratology 65 (2), 50-62 (2002) PUBMED 11857506 REFERENCE 3 (bases 1 to 1834) AUTHORS Greer,J.M. and Capecchi,M.R. TITLE Hoxb8 is required for normal grooming behavior in mice JOURNAL Neuron 33 (1), 23-34 (2002) PUBMED 11779477 REFERENCE 4 (bases 1 to 1834) AUTHORS Knoepfler,P.S., Sykes,D.B., Pasillas,M. and Kamps,M.P. TITLE HoxB8 requires its Pbx-interaction motif to block differentiation of primary myeloid progenitors and of most cell line models of myeloid differentiation JOURNAL Oncogene 20 (39), 5440-5448 (2001) PUBMED 11571641 REFERENCE 5 (bases 1 to 1834) AUTHORS Fujino,T., Yamazaki,Y., Largaespada,D.A., Jenkins,N.A., Copeland,N.G., Hirokawa,K. and Nakamura,T. TITLE Inhibition of myeloid differentiation by Hoxa9, Hoxb8, and Meis homeobox genes JOURNAL Exp. Hematol. 29 (7), 856-863 (2001) PUBMED 11438208 REFERENCE 6 (bases 1 to 1834) AUTHORS Apiou,F., Flagiello,D., Cillo,C., Malfoy,B., Poupon,M.F. and Dutrillaux,B. TITLE Fine mapping of human HOX gene clusters JOURNAL Cytogenet. Cell Genet. 73 (1-2), 114-115 (1996) PUBMED 8646877 REFERENCE 7 (bases 1 to 1834) 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 8 (bases 1 to 1834) 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 9 (bases 1 to 1834) 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 10 (bases 1 to 1834) 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 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AK096222.1, BF761142.1, AI672407.1, AW612644.1 and AI277015.1. On Jan 20, 2006 this sequence version replaced gi:25121964. 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 colorectal cancer. Mice that have had the murine ortholog of this gene knocked out exhibit an excessive pathologic grooming behavior. This behavior is similar to the behavior of humans suffering from the obsessive-compulsive spectrum disorder trichotillomania. [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 :: AK096222.1 [ECO:0000332] RNAseq introns :: single sample supports all introns ERS025084, ERS025090 [ECO:0000348] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end. PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-482 AK096222.1 1-482 483-484 BF761142.1 66-67 485-866 AK096222.1 485-866 867-868 AI672407.1 90-91 c 869-1583 AK096222.1 869-1583 1584-1585 AW612644.1 255-256 1586-1815 AK096222.1 1586-1815 1816-1834 AI277015.1 1-19 c FEATURES Location/Qualifiers source 1..1834 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="17" /map="17q21.3" gene 1..1834 /gene="HOXB8" /gene_synonym="Hox-2.4; HOX2; HOX2D" /note="homeobox B8" /db_xref="GeneID:3218" /db_xref="HGNC:5119" /db_xref="HPRD:00851" /db_xref="MIM:142963" exon 1..659 /gene="HOXB8" /gene_synonym="Hox-2.4; HOX2; HOX2D" /inference="alignment:Splign:1.39.8" variation complement(70) /gene="HOXB8" /gene_synonym="Hox-2.4; HOX2; HOX2D" /replace="c" /replace="t" /db_xref="dbSNP:138537883" STS 98..1489 /gene="HOXB8" /gene_synonym="Hox-2.4; HOX2; HOX2D" /db_xref="UniSTS:494539" STS 105..1546 /gene="HOXB8" /gene_synonym="Hox-2.4; HOX2; HOX2D" /db_xref="UniSTS:489938" misc_feature 113..115 /gene="HOXB8" /gene_synonym="Hox-2.4; HOX2; HOX2D" /note="upstream in-frame stop codon" STS 145..1158 /gene="HOXB8" /gene_synonym="Hox-2.4; HOX2; HOX2D" /db_xref="UniSTS:480723" variation complement(152) /gene="HOXB8" /gene_synonym="Hox-2.4; HOX2; HOX2D" /replace="c" /replace="g" /db_xref="dbSNP:372183832" STS 184..1059 /gene="HOXB8" /gene_synonym="Hox-2.4; HOX2; HOX2D" /db_xref="UniSTS:482549" CDS 236..967 /gene="HOXB8" /gene_synonym="Hox-2.4; HOX2; HOX2D" /note="homeo box B8; homeo box 2D; homeobox protein Hox-2D; homeobox protein Hox-2.4" /codon_start=1 /product="homeobox protein Hox-B8" /protein_id="NP_076921.1" /db_xref="GI:13273317" /db_xref="CCDS:CCDS11533.1" /db_xref="GeneID:3218" /db_xref="HGNC:5119" /db_xref="HPRD:00851" /db_xref="MIM:142963" /translation="
MSSYFVNSLFSKYKTGESLRPNYYDCGFAQDLGGRPTVVYGPSSGGSFQHPSQIQEFYHGPSSLSTAPYQQNPCAVACHGDPGNFYGYDPLQRQSLFGAQDPDLVQYADCKLAAASGLGEEAEGSEQSPSPTQLFPWMRPQAAAGRRRGRQTYSRYQTLELEKEFLFNPYLTRKRRIEVSHALGLTERQVKIWFQNRRMKWKKENNKDKFPSSKCEQEELEKQKLERAPEAADEGDAQKGDKK
" misc_feature 635..652 /gene="HOXB8" /gene_synonym="Hox-2.4; HOX2; HOX2D" /experiment="experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (P17481.2); Region: Antp-type hexapeptide" misc_feature 686..850 /gene="HOXB8" /gene_synonym="Hox-2.4; HOX2; HOX2D" /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:238039" misc_feature order(686..688,692..694,743..745,761..763,800..802, 806..811,818..823,827..835,839..844) /gene="HOXB8" /gene_synonym="Hox-2.4; HOX2; HOX2D" /note="DNA binding site [nucleotide binding]" /db_xref="CDD:238039" misc_feature order(689..691,809..811,818..823,830..832) /gene="HOXB8" /gene_synonym="Hox-2.4; HOX2; HOX2D" /note="specific DNA base contacts [nucleotide binding]; other site" /db_xref="CDD:238039" STS 254..394 /gene="HOXB8" /gene_synonym="Hox-2.4; HOX2; HOX2D" /standard_name="Hoxb8" /db_xref="UniSTS:536655" variation complement(280) /gene="HOXB8" /gene_synonym="Hox-2.4; HOX2; HOX2D" /replace="c" /replace="t" /db_xref="dbSNP:370314418" variation complement(312) /gene="HOXB8" /gene_synonym="Hox-2.4; HOX2; HOX2D" /replace="a" /replace="g" /db_xref="dbSNP:202069371" variation complement(328) /gene="HOXB8" /gene_synonym="Hox-2.4; HOX2; HOX2D" /replace="c" /replace="t" /db_xref="dbSNP:199877083" variation complement(427) /gene="HOXB8" /gene_synonym="Hox-2.4; HOX2; HOX2D" /replace="a" /replace="g" /db_xref="dbSNP:374945607" variation complement(433) /gene="HOXB8" /gene_synonym="Hox-2.4; HOX2; HOX2D" /replace="a" /replace="g" /db_xref="dbSNP:201120876" variation complement(482) /gene="HOXB8" /gene_synonym="Hox-2.4; HOX2; HOX2D" /replace="a" /replace="g" /db_xref="dbSNP:150150478" variation complement(493) /gene="HOXB8" /gene_synonym="Hox-2.4; HOX2; HOX2D" /replace="c" /replace="t" /db_xref="dbSNP:2303484" variation complement(504) /gene="HOXB8" /gene_synonym="Hox-2.4; HOX2; HOX2D" /replace="a" /replace="c" /db_xref="dbSNP:140795156" variation complement(538) /gene="HOXB8" /gene_synonym="Hox-2.4; HOX2; HOX2D" /replace="c" /replace="t" /db_xref="dbSNP:112978726" variation complement(577) /gene="HOXB8" /gene_synonym="Hox-2.4; HOX2; HOX2D" /replace="c" /replace="t" /db_xref="dbSNP:202042736" variation complement(584) /gene="HOXB8" /gene_synonym="Hox-2.4; HOX2; HOX2D" /replace="a" /replace="g" /db_xref="dbSNP:61737568" variation complement(590) /gene="HOXB8" /gene_synonym="Hox-2.4; HOX2; HOX2D" /replace="a" /replace="g" /db_xref="dbSNP:199840850" variation complement(607) /gene="HOXB8" /gene_synonym="Hox-2.4; HOX2; HOX2D" /replace="a" /replace="c" /db_xref="dbSNP:200695320" exon 660..1823 /gene="HOXB8" /gene_synonym="Hox-2.4; HOX2; HOX2D" /inference="alignment:Splign:1.39.8" variation complement(709) /gene="HOXB8" /gene_synonym="Hox-2.4; HOX2; HOX2D" /replace="a" /replace="c" /db_xref="dbSNP:150977043" variation complement(724) /gene="HOXB8" /gene_synonym="Hox-2.4; HOX2; HOX2D" /replace="a" /replace="g" /db_xref="dbSNP:370269047" variation complement(754) /gene="HOXB8" /gene_synonym="Hox-2.4; HOX2; HOX2D" /replace="c" /replace="t" /db_xref="dbSNP:45441492" variation complement(766) /gene="HOXB8" /gene_synonym="Hox-2.4; HOX2; HOX2D" /replace="a" /replace="c" /db_xref="dbSNP:139515389" variation complement(775) /gene="HOXB8" /gene_synonym="Hox-2.4; HOX2; HOX2D" /replace="c" /replace="g" /db_xref="dbSNP:376895204" variation complement(784) /gene="HOXB8" /gene_synonym="Hox-2.4; HOX2; HOX2D" /replace="a" /replace="g" /db_xref="dbSNP:374013661" variation complement(829) /gene="HOXB8" /gene_synonym="Hox-2.4; HOX2; HOX2D" /replace="a" /replace="g" /db_xref="dbSNP:147771525" variation complement(844) /gene="HOXB8" /gene_synonym="Hox-2.4; HOX2; HOX2D" /replace="a" /replace="g" /db_xref="dbSNP:200705227" variation complement(871) /gene="HOXB8" /gene_synonym="Hox-2.4; HOX2; HOX2D" /replace="c" /replace="t" /db_xref="dbSNP:199714142" variation complement(885) /gene="HOXB8" /gene_synonym="Hox-2.4; HOX2; HOX2D" /replace="a" /replace="g" /db_xref="dbSNP:369933784" variation complement(901) /gene="HOXB8" /gene_synonym="Hox-2.4; HOX2; HOX2D" /replace="a" /replace="g" /db_xref="dbSNP:376484541" variation complement(908) /gene="HOXB8" /gene_synonym="Hox-2.4; HOX2; HOX2D" /replace="c" /replace="g" /db_xref="dbSNP:112046402" variation complement(914) /gene="HOXB8" /gene_synonym="Hox-2.4; HOX2; HOX2D" /replace="a" /replace="c" /db_xref="dbSNP:373819933" variation complement(1020) /gene="HOXB8" /gene_synonym="Hox-2.4; HOX2; HOX2D" /replace="" /replace="g" /db_xref="dbSNP:368268515" variation complement(1073) /gene="HOXB8" /gene_synonym="Hox-2.4; HOX2; HOX2D" /replace="g" /replace="t" /db_xref="dbSNP:56052247" variation complement(1209) /gene="HOXB8" /gene_synonym="Hox-2.4; HOX2; HOX2D" /replace="a" /replace="g" /db_xref="dbSNP:45572038" variation complement(1293) /gene="HOXB8" /gene_synonym="Hox-2.4; HOX2; HOX2D" /replace="" /replace="a" /db_xref="dbSNP:34679352" variation complement(1334) /gene="HOXB8" /gene_synonym="Hox-2.4; HOX2; HOX2D" /replace="a" /replace="g" /db_xref="dbSNP:201858397" variation complement(1382) /gene="HOXB8" /gene_synonym="Hox-2.4; HOX2; HOX2D" /replace="a" /replace="g" /db_xref="dbSNP:148900317" variation complement(1405) /gene="HOXB8" /gene_synonym="Hox-2.4; HOX2; HOX2D" /replace="a" /replace="g" /db_xref="dbSNP:147839497" variation complement(1442..1443) /gene="HOXB8" /gene_synonym="Hox-2.4; HOX2; HOX2D" /replace="" /replace="tc" /db_xref="dbSNP:371683237" variation complement(1443..1444) /gene="HOXB8" /gene_synonym="Hox-2.4; HOX2; HOX2D" /replace="" /replace="cg" /replace="tc" /db_xref="dbSNP:140231017" variation complement(1444..1445) /gene="HOXB8" /gene_synonym="Hox-2.4; HOX2; HOX2D" /replace="" /replace="gc" /db_xref="dbSNP:201227589" variation complement(1444) /gene="HOXB8" /gene_synonym="Hox-2.4; HOX2; HOX2D" /replace="g" /replace="t" /db_xref="dbSNP:72829888" variation complement(1449..1452) /gene="HOXB8" /gene_synonym="Hox-2.4; HOX2; HOX2D" /replace="" /replace="ctcg" /db_xref="dbSNP:68041649" variation complement(1452..1455) /gene="HOXB8" /gene_synonym="Hox-2.4; HOX2; HOX2D" /replace="" /replace="gctc" /db_xref="dbSNP:71356525" variation complement(1579) /gene="HOXB8" /gene_synonym="Hox-2.4; HOX2; HOX2D" /replace="g" /replace="t" /db_xref="dbSNP:185485263" variation complement(1716) /gene="HOXB8" /gene_synonym="Hox-2.4; HOX2; HOX2D" /replace="g" /replace="t" /db_xref="dbSNP:370594191" variation complement(1739) /gene="HOXB8" /gene_synonym="Hox-2.4; HOX2; HOX2D" /replace="a" /replace="t" /db_xref="dbSNP:9380" variation complement(1778) /gene="HOXB8" /gene_synonym="Hox-2.4; HOX2; HOX2D" /replace="g" /replace="t" /db_xref="dbSNP:114859649" polyA_signal 1798..1803 /gene="HOXB8" /gene_synonym="Hox-2.4; HOX2; HOX2D" polyA_site 1823 /gene="HOXB8" /gene_synonym="Hox-2.4; HOX2; HOX2D" ORIGIN
ccttttctattcctggaaaccacaaaaagtgtgtcggcttcgagatcttcttcgccttttctttcttttctttttttccctcctctctttccctctcctttcctggcgagggtgactaggagccggcgaatccgcgtttttttctctctctccctccctttccccctccccaccccctccccaacagcccccaactatagcctccgccgccgccgccgcctcaaaattcaataaaatgagctcttatttcgtcaactcactgttctccaaatacaaaaccggggagtccctgcgccccaattattatgactgcggcttcgcccaggacctgggcggccgacccaccgtggtgtacggtcccagcagcggcggcagcttccagcacccgtcgcaaatccaggagttctaccacgggccgtcgtcgctgtccacggctccctaccagcagaacccgtgcgccgtggcgtgccacggggaccccggcaatttctacggctacgacccgctgcaacgccagagcctattcggtgcgcaggatccagacctggtgcagtacgcagactgcaagcttgccgccgccagcggcctgggcgaggaggccgagggctccgagcagagcccgtcgcccacacagctcttcccctggatgcgcccgcaagcagccgccggacgcaggcgaggccgacagacctacagccgctaccagaccctggagctggagaaggagttcctatttaatccctatctgactcgtaagcggcgaatcgaggtatcgcacgccctgggactgacagagagacaggtcaaaatctggttccagaaccggaggatgaagtggaaaaaagagaacaacaaagacaagttccccagcagcaaatgcgagcaggaggagctggagaaacagaagctggagcgggccccagaggcggcggacgagggcgacgcgcagaagggcgacaagaagtaggcttcagctgggactgccagggccgcggccgcccgcacgtccgcgggtcccggccgcgccgccgccgcgcgcccctgcccgagagagctctggccccgctagcggggccaggagccgggcctcccaccgcagcgtcccccgccgcgccagtccccgctagtggtagtatctcgtaatagcttctgtgtgtgagctaccgtggatctccttcccttctcttgggggccggggggaaagaaaaggatttaagcaaaggctccctcgccctgtgagggcgagcggcaaaggcccggctgagccccccatgcccctcccctccccgtgtaaaaagcctccttgtgcaattgtcttttttttcctttgaacgtgcttctttgtaatgaccaaggtaccgatttctgctaagttctcccaacaacatgaaactgcctattcacgccgtaattctttctgtctcccttctctctctctctctcgctcgctcgctctcgctctcgctctctctcgctgcgtcctcatttcccctcccaatcctctctcccctctgcaaccccccagctcgctggctttctctctggcttctctcttttcctcctccacccaccccctttggtttgacaattttgtcttaagtgtttctcaaaagaggttactttagttagcatgcgcgctgtgggcaattgttacaagtgttcttaggtttactgtgaagagaatgtattctgtatccgtgaattgctttatgggggggagggagggctaattatatattttgttgttcctctatactttgttctgttgtctgcgcctgaaaagggcggaagagttacaataaagtttacaagcgagaacccgaaaaaaaaaaaa
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ANNOTATIONS from NCBI Entrez Gene (20130726): GeneID:3218 -> Molecular function: GO:0000976 [transcription regulatory region sequence-specific DNA binding] evidence: IEA GeneID:3218 -> Molecular function: GO:0003700 [sequence-specific DNA binding transcription factor activity] evidence: NAS GeneID:3218 -> Biological process: GO:0006351 [transcription, DNA-dependent] evidence: IEA GeneID:3218 -> Biological process: GO:0006355 [regulation of transcription, DNA-dependent] evidence: NAS GeneID:3218 -> Biological process: GO:0007275 [multicellular organismal development] evidence: NAS GeneID:3218 -> Biological process: GO:0007625 [grooming behavior] evidence: IEA GeneID:3218 -> Biological process: GO:0008344 [adult locomotory behavior] evidence: IEA GeneID:3218 -> Biological process: GO:0009952 [anterior/posterior pattern specification] evidence: IEA GeneID:3218 -> Biological process: GO:0019233 [sensory perception of pain] evidence: IEA GeneID:3218 -> Biological process: GO:0021516 [dorsal spinal cord development] evidence: IEA GeneID:3218 -> Biological process: GO:0045638 [negative regulation of myeloid cell differentiation] evidence: ISS GeneID:3218 -> Biological process: GO:0048704 [embryonic skeletal system morphogenesis] evidence: IEA GeneID:3218 -> Cellular component: GO:0005634 [nucleus] evidence: NAS
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