This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, located on different chromosomes, consisting of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXD genes located at 2q31-2q37 chromosome regions. Deletions that removed the entire HOXD gene cluster or 5' end of this cluster have been associated with severe limb and genital abnormalities. The protein encoded by this gene may play a role in determining positional values in developing limb buds. Alternatively spliced variants have been described but their full length nature has not been determined.[7]
Cianetti L, Di Cristofaro A, Zappavigna V, Bottero L, Boccoli G, Testa U, Russo G, Boncinelli E, Peschle C (1990). "Molecular mechanisms underlying the expression of the human HOX-5.1 gene". Nucleic Acids Res. 18 (15): 4361–8. doi:10.1093/nar/18.15.4361. PMC331252. PMID 1975093.
Boncinelli E, Acampora D, Pannese M, D'Esposito M, Somma R, Gaudino G, Stornaiuolo A, Cafiero M, Faiella A, Simeone A (1990). "Organization of human class I homeobox genes". Genome. 31 (2): 745–56. doi:10.1139/g89-133. PMID 2576652.
Mavilio F, Simeone A, Giampaolo A, Faiella A, Zappavigna V, Acampora D, Poiana G, Russo G, Peschle C, Boncinelli E (1987). "Differential and stage-related expression in embryonic tissues of a new human homoeobox gene". Nature. 324 (6098): 664–8. doi:10.1038/324664a0. PMID 2879245. S2CID 4368394.
Guazzi S, Lonigro R, Pintonello L, Boncinelli E, Di Lauro R, Mavilio F (1994). "The thyroid transcription factor-1 gene is a candidate target for regulation by Hox proteins". EMBO J. 13 (14): 3339–47. doi:10.1002/j.1460-2075.1994.tb06636.x. PMC395231. PMID 7913891.
Kim YH, Choi CY, Lee SJ, Conti MA, Kim Y (1998). "Homeodomain-interacting protein kinases, a novel family of co-repressors for homeodomain transcription factors". J. Biol. Chem. 273 (40): 25875–9. doi:10.1074/jbc.273.40.25875. PMID 9748262.
Del Campo M, Jones MC, Veraksa AN, Curry CJ, Jones KL, Mascarello JT, Ali-Kahn-Catts Z, Drumheller T, McGinnis W (1999). "Monodactylous limbs and abnormal genitalia are associated with hemizygosity for the human 2q31 region that includes the HOXD cluster". Am. J. Hum. Genet. 65 (1): 104–10. doi:10.1086/302467. PMC1378080. PMID 10364522.
Shanmugam K, Green NC, Rambaldi I, Saragovi HU, Featherstone MS (1999). "PBX and MEIS as Non-DNA-Binding Partners in Trimeric Complexes with HOX Proteins". Mol. Cell. Biol. 19 (11): 7577–88. doi:10.1128/mcb.19.11.7577. PMC84774. PMID 10523646.
Limongi MZ, Pelliccia F, Gaddini L, Rocchi A (2000). "Clustering of two fragile sites and seven homeobox genes in human chromosome region 2q31→q32.1". Cytogenet. Cell Genet. 90 (1–2): 151–3. doi:10.1159/000015651. PMID 11060466. S2CID 35579702.
Shen WF, Krishnan K, Lawrence HJ, Largman C (2001). "The HOX Homeodomain Proteins Block CBP Histone Acetyltransferase Activity". Mol. Cell. Biol. 21 (21): 7509–22. doi:10.1128/MCB.21.21.7509-7522.2001. PMC99922. PMID 11585930.
Goodman FR, Majewski F, Collins AL, Scambler PJ (2002). "A 117-kb Microdeletion Removing HOXD9–HOXD13 and EVX2 Causes Synpolydactyly". Am. J. Hum. Genet. 70 (2): 547–55. doi:10.1086/338921. PMC384929. PMID 11778160.
Kosaki K, Kosaki R, Suzuki T, Yoshihashi H, Takahashi T, Sasaki K, Tomita M, McGinnis W, Matsuo N (2002). "Complete mutation analysis panel of the 39 human HOX genes". Teratology. 65 (2): 50–62. doi:10.1002/tera.10009. PMID 11857506.
van Scherpenzeel Thim V, Remacle S, Picard J, Cornu G, Gofflot F, Rezsohazy R, Verellen-Dumoulin C (2006). "Mutation analysis of the HOX paralogous 4-13 genes in children with acute lymphoid malignancies: identification of a novel germline mutation of HOXD4 leading to a partial loss-of-function". Hum. Mutat. 25 (4): 384–95. doi:10.1002/humu.20155. PMID 15776434. S2CID 1549455.
hoxd4, homeobox, protein, protein, that, humans, encoded, gene, identifiersaliases, hox4, hox4b, homeobox, d4external, idsomim, 142981, 96208, homologene, 7773, genecards, gene, location, human, chromosome, human, band2q31, 1start176, end176, gene, location, m. Homeobox protein Hox D4 is a protein that in humans is encoded by the HOXD4 gene 5 6 7 HOXD4IdentifiersAliasesHOXD4 HHO C13 HOX 5 1 HOX4 HOX4B Hox 4 2 homeobox D4External IDsOMIM 142981 MGI 96208 HomoloGene 7773 GeneCards HOXD4Gene location Human Chr Chromosome 2 human 1 Band2q31 1Start176 151 550 bp 1 End176 153 226 bp 1 Gene location Mouse Chr Chromosome 2 mouse 2 Band2 C3 2 44 13 cMStart74 542 273 bp 2 End74 559 504 bp 2 RNA expression patternBgeeHumanMouse ortholog Top expressed inright uterine tubecorpus epididymisleft uterine tubekidneycaput epididymistransverse colonsmooth muscle tissuecanal of the cervixstromal cell of endometriummyometriumTop expressed inenteric nervous systemuterusseminal vesiculathyroid glandadrenal glandkidneypharynxabdominal wallrenal cortexgenitourinary systemMore reference expression dataBioGPSn aGene ontologyMolecular functionDNA binding transcription factor activity sequence specific DNA binding DNA binding RNA polymerase II transcription regulatory region sequence specific DNA binding DNA binding transcription activator activity RNA polymerase II specific DNA binding transcription factor activity RNA polymerase II specificCellular componentnucleus nucleoplasm cell junctionBiological processtranscription DNA templated regulation of transcription DNA templated multicellular organism development transcription by RNA polymerase II positive regulation of transcription by RNA polymerase II skeletal system development anterior posterior pattern specification embryonic skeletal system morphogenesisSources Amigo QuickGOOrthologsSpeciesHumanMouseEntrez323315436EnsemblENSG00000170166ENSMUSG00000101174UniProtP09016P10628RefSeq mRNA NM 014621NM 010469RefSeq protein NP 055436NP 034599Location UCSC Chr 2 176 15 176 15 MbChr 2 74 54 74 56 MbPubMed search 3 4 WikidataView Edit HumanView Edit Mouse Contents 1 Function 2 See also 3 References 4 Further reading 5 External linksFunction editThis gene belongs to the homeobox family of genes The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms Mammals possess four similar homeobox gene clusters HOXA HOXB HOXC and HOXD located on different chromosomes consisting of 9 to 11 genes arranged in tandem This gene is one of several homeobox HOXD genes located at 2q31 2q37 chromosome regions Deletions that removed the entire HOXD gene cluster or 5 end of this cluster have been associated with severe limb and genital abnormalities The protein encoded by this gene may play a role in determining positional values in developing limb buds Alternatively spliced variants have been described but their full length nature has not been determined 7 See also editHomeoboxReferences edit a b c GRCh38 Ensembl release 89 ENSG00000170166 Ensembl May 2017 a b c GRCm38 Ensembl release 89 ENSMUSG00000101174 Ensembl May 2017 Human PubMed Reference National Center for Biotechnology Information U S National Library of Medicine Mouse PubMed Reference National Center for Biotechnology Information U S National Library of Medicine McAlpine PJ Shows TB Aug 1990 Nomenclature for human homeobox genes Genomics 7 3 460 doi 10 1016 0888 7543 90 90186 X PMID 1973146 Scott MP Dec 1992 Vertebrate homeobox gene nomenclature Cell 71 4 551 3 doi 10 1016 0092 8674 92 90588 4 PMID 1358459 S2CID 13370372 a b Entrez Gene HOXD4 homeobox D4 Further reading editCianetti L Di Cristofaro A Zappavigna V Bottero L Boccoli G Testa U Russo G Boncinelli E Peschle C 1990 Molecular mechanisms underlying the expression of the human HOX 5 1 gene Nucleic Acids Res 18 15 4361 8 doi 10 1093 nar 18 15 4361 PMC 331252 PMID 1975093 Boncinelli E Acampora D Pannese M D Esposito M Somma R Gaudino G Stornaiuolo A Cafiero M Faiella A Simeone A 1990 Organization of human class I homeobox genes Genome 31 2 745 56 doi 10 1139 g89 133 PMID 2576652 Mavilio F Simeone A Giampaolo A Faiella A Zappavigna V Acampora D Poiana G Russo G Peschle C Boncinelli E 1987 Differential and stage related expression in embryonic tissues of a new human homoeobox gene Nature 324 6098 664 8 doi 10 1038 324664a0 PMID 2879245 S2CID 4368394 Guazzi S Lonigro R Pintonello L Boncinelli E Di Lauro R Mavilio F 1994 The thyroid transcription factor 1 gene is a candidate target for regulation by Hox proteins EMBO J 13 14 3339 47 doi 10 1002 j 1460 2075 1994 tb06636 x PMC 395231 PMID 7913891 Kim YH Choi CY Lee SJ Conti MA Kim Y 1998 Homeodomain interacting protein kinases a novel family of co repressors for homeodomain transcription factors J Biol Chem 273 40 25875 9 doi 10 1074 jbc 273 40 25875 PMID 9748262 Del Campo M Jones MC Veraksa AN Curry CJ Jones KL Mascarello JT Ali Kahn Catts Z Drumheller T McGinnis W 1999 Monodactylous limbs and abnormal genitalia are associated with hemizygosity for the human 2q31 region that includes the HOXD cluster Am J Hum Genet 65 1 104 10 doi 10 1086 302467 PMC 1378080 PMID 10364522 Shanmugam K Green NC Rambaldi I Saragovi HU Featherstone MS 1999 PBX and MEIS as Non DNA Binding Partners in Trimeric Complexes with HOX Proteins Mol Cell Biol 19 11 7577 88 doi 10 1128 mcb 19 11 7577 PMC 84774 PMID 10523646 Limongi MZ Pelliccia F Gaddini L Rocchi A 2000 Clustering of two fragile sites and seven homeobox genes in human chromosome region 2q31 q32 1 Cytogenet Cell Genet 90 1 2 151 3 doi 10 1159 000015651 PMID 11060466 S2CID 35579702 Shen WF Krishnan K Lawrence HJ Largman C 2001 The HOX Homeodomain Proteins Block CBP Histone Acetyltransferase Activity Mol Cell Biol 21 21 7509 22 doi 10 1128 MCB 21 21 7509 7522 2001 PMC 99922 PMID 11585930 Goodman FR Majewski F Collins AL Scambler PJ 2002 A 117 kb Microdeletion Removing HOXD9 HOXD13 and EVX2 Causes Synpolydactyly Am J Hum Genet 70 2 547 55 doi 10 1086 338921 PMC 384929 PMID 11778160 Kosaki K Kosaki R Suzuki T Yoshihashi H Takahashi T Sasaki K Tomita M McGinnis W Matsuo N 2002 Complete mutation analysis panel of the 39 human HOX genes Teratology 65 2 50 62 doi 10 1002 tera 10009 PMID 11857506 van Scherpenzeel Thim V Remacle S Picard J Cornu G Gofflot F Rezsohazy R Verellen Dumoulin C 2006 Mutation analysis of the HOX paralogous 4 13 genes in children with acute lymphoid malignancies identification of a novel germline mutation of HOXD4 leading to a partial loss of function Hum Mutat 25 4 384 95 doi 10 1002 humu 20155 PMID 15776434 S2CID 1549455 External links editHOXD4 protein human at the U S National Library of Medicine Medical Subject Headings MeSH This article incorporates text from the United States National Library of Medicine which is in the public domain nbsp This article on a gene on human chromosome 2 is a stub You can help Wikipedia by expanding it vte Retrieved from https en wikipedia org w index php title HOXD4 amp oldid 1110343705, wikipedia, wiki, book, books, library,
