HOXD10

HOXD10
Identifiers
Aliases	HOXD10,HOX4, HOX4D, HOX4E, Hox-4.4, homeobox D10
External IDs	OMIM:142984;MGI:96202;HomoloGene:1619;GeneCards:HOXD10;OMA:HOXD10 - orthologs
Gene location (Human) Chr. Chromosome 2 (human) Band 2q31.1 Start 176,108,790bp End 176,119,937bp
Gene location (Mouse) Chr. Chromosome 2 (mouse) Band 2 C3|2 44.13 cM Start 74,522,268bp End 74,525,449bp
RNA expressionpattern Bgee Human Mouse(ortholog) Top expressed in renal medulla decidua body of uterus urethra stromal cell of endometrium Achilles tendon vagina myometrium buccal mucosa cell muscle layer of sigmoid colon Top expressed in uterus tail of embryo metanephros neural tube right kidney male urethra free upper limb female urethra genital tubercle stroma of kidney More reference expression data BioGPS More reference expression data
Gene ontology Molecular function sequence-specific DNA binding DNA binding DNA-binding transcription factor activity chromatin 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-specific Cellular component nucleus nucleoplasm cytosol cytoplasmic ribonucleoprotein granule Biological process embryonic skeletal system morphogenesis forelimb morphogenesis peripheral nervous system neuron development skeletal system development proximal/distal pattern formation regulation of transcription, DNA-templated spinal cord motor neuron cell fate specification adult locomotory behavior hindlimb morphogenesis transcription, DNA-templated single fertilization multicellular organism development neuromuscular process embryonic limb morphogenesis regulation of gene expression skeletal muscle tissue development anterior/posterior pattern specification positive regulation of transcription by RNA polymerase II transcription by RNA polymerase II Sources:Amigo/QuickGO
Orthologs Species Human Mouse Entrez 3236 15430 Ensembl ENSG00000128710 ENSMUSG00000050368 UniProt P28358 P28359 RefSeq (mRNA) NM_002148 NM_013554 RefSeq (protein) NP_002139 NP_038582 Location (UCSC) Chr 2: 176.11 – 176.12 Mb Chr 2: 74.52 – 74.53 Mb PubMedsearch
Wikidata
View/Edit Human View/Edit Mouse

Homeobox D10,also known asHOXD10,is aproteinwhich in humans is encoded by theHOXD10gene.

Function

This gene is a member of the Abd-Bhomeoboxfamily and encodes a protein with a homeoboxDNA-binding domain.It is included in a cluster of homeobox D genes located on chromosome 2. The encoded nuclear protein functions as a sequence-specifictranscription factorthat is expressed in the developing limb buds and is involved in differentiation and limb development.

Clinical significance

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

Regulation

TheHOXD10gene isrepressedby themicroRNAsmiR-10aandmiR-10b.

See also

• Homeobox

Further reading

• Ma L, Teruya-Feldstein J, Weinberg RA (Oct 2007). "Tumour invasion and metastasis initiated by microRNA-10b in breast cancer".Nature.449(7163): 682–8.Bibcode:2007Natur.449..682M.doi:10.1038/nature06174.PMID17898713.S2CID4421050.
• Tabin CJ (Oct 1992). "Why we have (only) five fingers per hand: hox genes and the evolution of paired limbs".Development.116(2): 289–96.doi:10.1242/dev.116.2.289.PMID1363084.
• Goodman FR (Oct 2002). "Limb malformations and the human HOX genes".American Journal of Medical Genetics.112(3): 256–65.doi:10.1002/ajmg.10776.PMID12357469.
• Redline RW, Williams AJ, Patterson P, Collins T (Jun 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.PMID1351871.
• Scott MP (Nov 1992). "Vertebrate homeobox gene nomenclature".Cell.71(4): 551–3.doi:10.1016/0092-8674(92)90588-4.PMID1358459.S2CID13370372.
• Zappavigna V, Renucci A, Izpisúa-Belmonte JC, Urier G, Peschle C, Duboule D (Dec 1991)."HOX4 genes encode transcription factors with potential auto- and cross-regulatory capacities".The EMBO Journal.10(13): 4177–87.doi:10.1002/j.1460-2075.1991.tb04996.x.PMC453170.PMID1756725.
• McAlpine PJ, Shows TB (Jul 1990). "Nomenclature for human homeobox genes".Genomics.7(3): 460.doi:10.1016/0888-7543(90)90186-X.PMID1973146.
• Peverali FA, D'Esposito M, Acampora D, Bunone G, Negri M, Faiella A, Stornaiuolo A, Pannese M, Migliaccio E, Simeone A (Oct 1990). "Expression of HOX homeogenes in human neuroblastoma cell culture lines".Differentiation; Research in Biological Diversity.45(1): 61–9.doi:10.1111/j.1432-0436.1990.tb00458.x.PMID1981366.
• Acampora D, D'Esposito M, Faiella A, Pannese M, Migliaccio E, Morelli F, Stornaiuolo A, Nigro V, Simeone A, Boncinelli E (Dec 1989)."The human HOX gene family".Nucleic Acids Research.17(24): 10385–402.doi:10.1093/nar/17.24.10385.PMC335308.PMID2574852.
• 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.PMID2576652.
• Guazzi S, Lonigro R, Pintonello L, Boncinelli E, Di Lauro R, Mavilio F (Jul 1994)."The thyroid transcription factor-1 gene is a candidate target for regulation by Hox proteins".The EMBO Journal.13(14): 3339–47.doi:10.1002/j.1460-2075.1994.tb06636.x.PMC395231.PMID7913891.
• Redline RW, Hudock P, MacFee M, Patterson P (Nov 1994). "Expression of AbdB-type homeobox genes in human tumors".Laboratory Investigation; A Journal of Technical Methods and Pathology.71(5): 663–70.PMID7967520.
• Wulfsberg EA, Mirkinson LJ, Meister SJ (Jun 1993). "Autosomal dominant tetramelic postaxial oligodactyly".American Journal of Medical Genetics.46(5): 579–83.doi:10.1002/ajmg.1320460524.PMID8100684.
• Osborne J, Hu C, Hawley C, Underwood LJ, O'Brien TJ, Baker VV (1998). "Expression of HOXD10 gene in normal endometrium and endometrial adenocarcinoma".Journal of the Society for Gynecologic Investigation.5(5): 277–80.doi:10.1016/S1071-5576(98)00020-3.PMID9773404.
• Del Campo M, Jones MC, Veraksa AN, Curry CJ, Jones KL, Mascarello JT, Ali-Kahn-Catts Z, Drumheller T, McGinnis W (Jul 1999)."Monodactylous limbs and abnormal genitalia are associated with hemizygosity for the human 2q31 region that includes the HOXD cluster".American Journal of Human Genetics.65(1): 104–10.doi:10.1086/302467.PMC1378080.PMID10364522.
• Shanmugam K, Green NC, Rambaldi I, Saragovi HU, Featherstone MS (Nov 1999)."PBX and MEIS as non-DNA-binding partners in trimeric complexes with HOX proteins".Molecular and Cellular Biology.19(11): 7577–88.doi:10.1128/mcb.19.11.7577.PMC84774.PMID10523646.
• 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".Cytogenetics and Cell Genetics.90(1–2): 151–3.doi:10.1159/000015651(inactive 2024-08-22).PMID11060466.S2CID35579702.{{cite journal}}:CS1 maint: DOI inactive as of August 2024 (link)
• Shen WF, Krishnan K, Lawrence HJ, Largman C (Nov 2001)."The HOX homeodomain proteins block CBP histone acetyltransferase activity".Molecular and Cellular Biology.21(21): 7509–22.doi:10.1128/MCB.21.21.7509-7522.2001.PMC99922.PMID11585930.
• Goodman FR, Majewski F, Collins AL, Scambler PJ (Feb 2002)."A 117-kb microdeletion removing HOXD9-HOXD13 and EVX2 causes synpolydactyly".American Journal of Human Genetics.70(2): 547–55.doi:10.1086/338921.PMC384929.PMID11778160.
• Kosaki K, Kosaki R, Suzuki T, Yoshihashi H, Takahashi T, Sasaki K, Tomita M, McGinnis W, Matsuo N (Feb 2002). "Complete mutation analysis panel of the 39 human HOX genes".Teratology.65(2): 50–62.doi:10.1002/tera.10009.PMID11857506.

External links

• HOXD10+protein,+humanat the U.S. National Library of MedicineMedical Subject Headings(MeSH)

This article incorporates text from theUnited States National Library of Medicine,which is in thepublic domain.