HOXD10 Knowpia

HOXD10
Identifiers
Aliases	HOXD10, HOX4, HOX4D, HOX4E, Hox-4.4, homeobox D10
External IDs	OMIM: 142984 MGI: 96202 HomoloGene: 1619 GeneCards: HOXD10
Gene location (Human)
Chr.	Chromosome 2 (human)
End	176,119,937 bp
Gene location (Mouse)
Chr.	Chromosome 2 (mouse)
End	74,525,449 bp
RNA expression pattern
	Top expressed in
	renal medulla; ; urethra; ; stromal cell of endometrium; ; Achilles tendon; ; vagina; ; myometrium; ; prostate; ; canal of the cervix; ; germinal epithelium; ; kidney;
	Top expressed in
	uterus; ; metanephros; ; neural tube; ; male urethra; ; free upper limb; ; female urethra; ; kidney; ; spinal cord; ; ureter; ; wall of urinary bladder;
	More reference expression data
	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
	3236
	15430
	ENSG00000128710
	ENSMUSG00000050368
	P28358
	P28359
	NM_002148
	NM_013554
	NP_002139
	NP_038582
	Wikidata
View/Edit Human	View/Edit Mouse

Homeobox D10, also known as HOXD10, is a protein which in humans is encoded by the HOXD10 gene.^[5]

Function edit

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 edit

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.^[5]^{[citation needed]}

Regulation edit

The HOXD10 gene is repressed by the microRNAs miR-10a and miR-10b.^[6]^[7]^[8]

References edit

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000128710 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000050368 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ ^a ^b "Entrez Gene: HOXD10 homeobox D10".
^ Lund AH (Feb 2010). "miR-10 in development and cancer". Cell Death and Differentiation. 17 (2): 209–14. doi:10.1038/cdd.2009.58. PMID 19461655.
^ 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. PMID 17898713. S2CID 4421050.
^ Han L, Witmer PD, Casey E, Valle D, Sukumar S (Aug 2007). "DNA methylation regulates MicroRNA expression". Cancer Biology & Therapy. 6 (8): 1284–8. doi:10.4161/cbt.6.8.4486. PMID 17660710.

Further reading edit

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. PMID 17898713. S2CID 4421050.
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. PMID 1363084.
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. PMID 12357469.
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. PMID 1351871.
Scott MP (Nov 1992). "Vertebrate homeobox gene nomenclature". Cell. 71 (4): 551–3. doi:10.1016/0092-8674(92)90588-4. PMID 1358459. S2CID 13370372.
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. PMC 453170. PMID 1756725.
McAlpine PJ, Shows TB (Jul 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, 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. PMID 1981366.
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. PMC 335308. PMID 2574852.
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. PMID 2576652.
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. PMC 395231. PMID 7913891.
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. PMID 7967520.
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. PMID 8100684.
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. PMID 9773404.
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. PMC 1378080. PMID 10364522.
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. PMC 84774. 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". Cytogenetics and Cell Genetics. 90 (1–2): 151–3. doi:10.1159/000015651. PMID 11060466. S2CID 35579702.
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. PMC 99922. PMID 11585930.
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. PMC 384929. PMID 11778160.
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. PMID 11857506.