HOXD10

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) [1] Band 2q31.1 Start 176,108,790 bp [1] End 176,119,937 bp [1]
Gene location (Mouse) Chr. Chromosome 2 (mouse) [2] Band 2 C3|2 44.13 cM Start 74,522,268 bp [2] End 74,525,449 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) 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 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 PubMed search [3] [4]
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

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. ^{[5] [ citation needed ]}

Regulation

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

See also

• Homeobox

References

1. GRCh38: Ensembl release 89: ENSG00000128710 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000050368 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. "Entrez Gene: HOXD10 homeobox D10".
6. 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.
7. 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.
8. 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

• 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.

External links

• HOXD10+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)

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