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Homeobox D9

PDB rendering based on 1puf.
Available structures
Symbols HOXD9; HOX4; HOX4C; Hox-4.3; Hox-5.2
External IDs OMIM142982 MGI96210 HomoloGene8409 GeneCards: HOXD9 Gene
RNA expression pattern
PBB GE HOXD9 205604 at tn.png
More reference expression data
Species Human Mouse
Entrez 3235 15438
Ensembl ENSG00000128709 ENSMUSG00000043342
UniProt P28356 Q3UMQ3
RefSeq (mRNA) NM_014213 NM_013555
RefSeq (protein) NP_055028 NP_038583
Location (UCSC) Chr 2:
176.7 - 176.7 Mb
Chr 2:
74.5 - 74.5 Mb
PubMed search [1] [2]

Homeobox protein Hox-D9 is a protein that in humans is encoded by the HOXD9 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 exact role of this gene 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: HOXD9 homeobox D9".  

Further reading

  • Zappavigna V, Renucci A, Izpisúa-Belmonte JC, et al. (1992). "HOX4 genes encode transcription factors with potential auto- and cross-regulatory capacities.". EMBO J. 10 (13): 4177–87. PMID 1756725.  
  • 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.  
  • Acampora D, D'Esposito M, Faiella A, et al. (1990). "The human HOX gene family.". Nucleic Acids Res. 17 (24): 10385–402. doi:10.1093/nar/17.24.10385. PMID 2574852.  
  • Kanzler B, Viallet JP, Le Mouellic H, et al. (1995). "Differential expression of two different homeobox gene families during mouse tegument morphogenesis.". Int. J. Dev. Biol. 38 (4): 633–40. PMID 7779685.  
  • Zappavigna V, Sartori D, Mavilio F (1994). "Specificity of HOX protein function depends on DNA-protein and protein-protein interactions, both mediated by the homeo domain.". Genes Dev. 8 (6): 732–44. doi:10.1101/gad.8.6.732. PMID 7926763.  
  • Zappavigna V, Falciola L, Helmer-Citterich M, et al. (1996). "HMG1 interacts with HOX proteins and enhances their DNA binding and transcriptional activation.". EMBO J. 15 (18): 4981–91. PMID 8890171.  
  • Phelan ML, Featherstone MS (1997). "Distinct HOX N-terminal arm residues are responsible for specificity of DNA recognition by HOX monomers and HOX.PBX heterodimers.". J. Biol. Chem. 272 (13): 8635–43. doi:10.1074/jbc.272.13.8635. PMID 9079695.  
  • 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.  
  • de la Cruz CC, Der-Avakian A, Spyropoulos DD, et al. (2000). "Targeted disruption of Hoxd9 and Hoxd10 alters locomotor behavior, vertebral identity, and peripheral nervous system development.". Dev. Biol. 216 (2): 595–610. doi:10.1006/dbio.1999.9528. PMID 10642795.  
  • 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.  
  • 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.  
  • Nguyen NC, Hirose T, Nakazawa M, et al. (2002). "Expression of HOXD9 in fibroblast-like synoviocytes from rheumatoid arthritis patients.". Int. J. Mol. Med. 10 (1): 41–8. PMID 12060849.  
  • 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.  
  • Méchine-Neuville A, Lefebvre O, Bellocq JP, et al. (2003). "[Increased expression of HOXA9 gene in Hirschsprung disease]". Gastroenterol. Clin. Biol. 26 (12): 1110–7. PMID 12520199.  
  • Liu DB, Gu ZD, Cao XZ, et al. (2005). "Immunocytochemical detection of HoxD9 and Pbx1 homeodomain protein expression in Chinese esophageal squamous cell carcinomas.". World J. Gastroenterol. 11 (10): 1562–6. PMID 15770739.  
  • Zhao X, Sun M, Zhao J, et al. (2007). "Mutations in HOXD13 underlie syndactyly type V and a novel brachydactyly-syndactyly syndrome.". Am. J. Hum. Genet. 80 (2): 361–71. doi:10.1086/511387. PMID 17236141.  

External links

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



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