HOXD10

Homeobox D10
Identifiers
Symbols	HOXD10; HOX4; HOX4D; HOX4E; Hox-4.4
External IDs	OMIM: 142984 MGI: 96202 HomoloGene: 1619 GeneCards: HOXD10 Gene
Gene Ontology Molecular function • chromatin binding • sequence-specific DNA binding transcription factor activity • sequence-specific DNA binding Cellular component • nucleus Biological process • skeletal system development • multicellular organismal development • skeletal muscle tissue development • adult locomotory behavior • anterior/posterior pattern formation • proximal/distal pattern formation • spinal cord motor neuron cell fate specification • embryonic limb morphogenesis • forelimb morphogenesis • hindlimb morphogenesis • positive regulation of transcription from RNA polymerase II promoter • embryonic skeletal system morphogenesis • peripheral nervous system neuron development • neuromuscular process Sources: Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	3236	15430
Ensembl	ENSG00000128710	ENSMUSG00000050368
UniProt	P28358	P28359
RefSeq (mRNA)	NM_002148	NM_013554.4
RefSeq (protein)	NP_002139	NP_038582.2
Location (UCSC)	Chr 2: 176.97 – 176.98 Mb	Chr 2: 74.53 – 74.53 Mb
PubMed search	[1]	[2]

Homeobox D10, also known as HOXD10, is a protein which in humans is encoded by the HOXD10 gene.

Function

This gene is a member of the Abd-B homeobox family and encodes a protein with a homeobox DNA-binding domain. It is included in a cluster of homeobox D genes located on chromosome 2. The encoded nuclear protein functions as a sequence-specific transcription factor that is expressed in the developing limb buds and is involved in differentiation and limb development.

Clinical significance

Mutations in this gene have been associated with Wilms' tumor and congenital vertical talus (also known as "rocker-bottom foot" deformity or congenital convex pes valgus) and/or a foot deformity resembling that seen in Charcot-Marie-Tooth disease. (citation needed)

Regulation

The HOXD10 gene is repressed by the microRNAs miR-10a and miR-10b.

See also

• Homeobox

Further reading

• Ma L, Teruya-Feldstein J, Weinberg RA (October 2007). "Tumour invasion and metastasis initiated by microRNA-10b in breast cancer". Nature 449 (7163): 682–8. doi:10.1038/nature06174. PMID 17898713. 
• Tabin CJ (1993). "Why we have (only) five fingers per hand: hox genes and the evolution of paired limbs.". Development 116 (2): 289–96. PMID 1363084. 
• 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. 
• Scott MP (1992). "Vertebrate homeobox gene nomenclature.". Cell 71 (4): 551–3. doi:10.1016/0092-8674(92)90588-4. PMID 1358459. 
• 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. PMC 453170. PMID 1756725. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=453170. 
• McAlpine PJ, Shows TB (1990). "Nomenclature for human homeobox genes.". Genomics 7 (3): 460. doi:10.1016/0888-7543(90)90186-X. PMID 1973146. 
• Peverali FA, D'Esposito M, Acampora D, et al. (1991). "Expression of HOX homeogenes in human neuroblastoma cell culture lines.". Differentiation 45 (1): 61–9. doi:10.1111/j.1432-0436.1990.tb00458.x. PMID 1981366. 
• 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. PMC 335308. PMID 2574852. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=335308. 
• Boncinelli E, Acampora D, Pannese M, et al. (1990). "Organization of human class I homeobox genes.". Genome 31 (2): 745–56. PMID 2576652. 
• 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. PMC 395231. PMID 7913891. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=395231. 
• Redline RW, Hudock P, MacFee M, Patterson P (1994). "Expression of AbdB-type homeobox genes in human tumors.". Lab. Invest. 71 (5): 663–70. PMID 7967520. 
• Wulfsberg EA, Mirkinson LJ, Meister SJ (1993). "Autosomal dominant tetramelic postaxial oligodactyly.". Am. J. Med. Genet. 46 (5): 579–83. doi:10.1002/ajmg.1320460524. PMID 8100684. 
• Osborne J, Hu C, Hawley C, et al. (1998). "Expression of HOXD10 gene in normal endometrium and endometrial adenocarcinoma.". J. Soc. Gynecol. Investig. 5 (5): 277–80. doi:10.1016/S1071-5576(98)00020-3. PMID 9773404. 
• 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. PMC 1378080. PMID 10364522. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1378080. 
• 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. PMC 84774. PMID 10523646. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=84774. 
• 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. PMC 99922. PMID 11585930. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=99922. 
• 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. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=384929. 
• 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. 

External links

• MeSH HOXD10+protein,+human

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