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Homeobox D4
Symbols HOXD4; HOX4; HHO.C13; HOX-5.1; HOX4B; Hox-4.2
External IDs OMIM142981 MGI96208 HomoloGene7773 GeneCards: HOXD4 Gene
Species Human Mouse
Entrez 3233 15436
Ensembl ENSG00000170166 n/a
UniProt P09016 n/a
RefSeq (mRNA) NM_014621 NM_010469
RefSeq (protein) NP_055436 NP_034599
Location (UCSC) Chr 2:
176.72 - 176.73 Mb
PubMed search [1] [2]

Homeobox protein Hox-D4 is a protein that in humans is encoded by the HOXD4 gene.[1][2][3]

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.[3]


See also


  1. ^ McAlpine PJ, Shows TB (Aug 1990). "Nomenclature for human homeobox genes". Genomics 7 (3): 460. PMID 1973146.  
  2. ^ Scott MP (Dec 1992). "Vertebrate homeobox gene nomenclature". Cell 71 (4): 551–3. PMID 1358459.  
  3. ^ a b "Entrez Gene: HOXD4 homeobox D4".  

Further reading

  • Cianetti L, Di Cristofaro A, Zappavigna V, et al. (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. PMID 1975093.  
  • Boncinelli E, Acampora D, Pannese M, et al. (1990). "Organization of human class I homeobox genes.". Genome 31 (2): 745–56. PMID 2576652.  
  • Mavilio F, Simeone A, Giampaolo A, et al. (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.  
  • Guazzi S, Lonigro R, Pintonello L, et al. (1994). "The thyroid transcription factor-1 gene is a candidate target for regulation by Hox proteins.". Embo J. 13 (14): 3339–47. PMID 7913891.  
  • Kim YH, Choi CY, Lee SJ, et al. (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, et al. (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. PMID 10364522.  
  • Shanmugam K, Green NC, Rambaldi I, et al. (1999). "PBX and MEIS as non-DNA-binding partners in trimeric complexes with HOX proteins.". Mol. Cell. Biol. 19 (11): 7577–88. 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.  
  • 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. 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. PMID 11778160.  
  • Kosaki K, Kosaki R, Suzuki T, et al. (2002). "Complete mutation analysis panel of the 39 human HOX genes.". Teratology 65 (2): 50–62. doi:10.1002/tera.10009. PMID 11857506.  
  • Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932.  
  • Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMID 15489334.  
  • van Scherpenzeel Thim V, Remacle S, Picard J, et al. (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.  

External links

This article incorporates text from the United States National Library of Medicine, which is in the public domain.



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