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Homeobox D8
Symbols HOXD8; HOX4; HOX4E; HOX5.4
External IDs OMIM142985 MGI96209 HomoloGene10473 GeneCards: HOXD8 Gene
RNA expression pattern
PBB GE HOXD8 gnf1h00326 at tn.png
More reference expression data
Species Human Mouse
Entrez 3234 15437
Ensembl ENSG00000175879 ENSMUSG00000027102
UniProt P13378 Q9CUH8
RefSeq (mRNA) XM_001132822 XM_355338
RefSeq (protein) XP_001132822 XP_355338
Location (UCSC) Chr 2:
176.7 - 176.7 Mb
Chr 2:
74.51 - 74.51 Mb
PubMed search [1] [2]

Homeobox protein Hox-D8 is a protein that in humans is encoded by the HOXD8 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 in a cluster on chromosome 2. Deletions that remove the entire HOXD gene cluster or the 5' end of this cluster have been associated with severe limb and genital abnormalities. In addition to effects during embryogenesis, this particular gene may also play a role in adult urogenital tract function.[3]


  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: HOXD8 homeobox D8".  

Further reading

  • Goodman FR (2003). "Limb malformations and the human HOX genes.". Am. J. Med. Genet. 112 (3): 256–65. doi:10.1002/ajmg.10776. PMID 12357469.  
  • Redline RW, Williams AJ, Patterson P, Collins T (1992). "Human HOX4E: a gene strongly expressed in the adult male and female urogenital tracts.". Genomics 13 (2): 425–30. doi:10.1016/0888-7543(92)90263-R. PMID 1351871.  
  • Oliver G, Sidell N, Fiske W, et al. (1989). "Complementary homeo protein gradients in developing limb buds.". Genes Dev. 3 (5): 641–50. doi:10.1101/gad.3.5.641. PMID 2568311.  
  • Manohar CF, Salwen HR, Furtado MR, Cohn SL (1996). "Up-regulation of HOXC6, HOXD1, and HOXD8 homeobox gene expression in human neuroblastoma cells following chemical induction of differentiation.". Tumour Biol. 17 (1): 34–47. doi:10.1159/000217965. PMID 7501971.  
  • 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.  
  • Rosen DR, Brown RH (1993). "Dinucleotide repeat polymorphism in the HOX4E locus.". Hum. Mol. Genet. 2 (5): 617. doi:10.1093/hmg/2.5.617. PMID 8100165.  
  • 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.  
  • 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.  
  • 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.  

External links

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



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