HOXD11

HOXD11
Identifiers
Aliases	HOXD11 , HOX4, HOX4F, homeobox D11
External IDs	OMIM: 142986; MGI: 96203; HomoloGene: 7368; GeneCards: HOXD11; OMA:HOXD11 - orthologs
Gene location (Human) Chr. Chromosome 2 (human) [1] Band 2q31.1 Start 176,104,216 bp [1] End 176,109,754 bp [1]
Gene location (Mouse) Chr. Chromosome 2 (mouse) [2] Band 2 C3|2 44.13 cM Start 74,509,901 bp [2] End 74,517,360 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in body of uterus stromal cell of endometrium Achilles tendon urethra myometrium muscle layer of sigmoid colon gonad vagina ectocervix decidua Top expressed in tail of embryo uterus basal cell layer of epidermis genital tubercle granular layer of epidermis urethra male urethra stroma of kidney free upper limb sclerotome More reference expression data BioGPS More reference expression data
Gene ontology Molecular function sequence-specific DNA binding DNA binding DNA-binding transcription factor activity, RNA polymerase II-specific Cellular component nucleus nucleoplasm Biological process multicellular organism development branching involved in ureteric bud morphogenesis regulation of transcription, DNA-templated dorsal/ventral pattern formation transcription, DNA-templated regulation of transcription by RNA polymerase II Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 3237 15431 Ensembl ENSG00000128713 ENSMUSG00000042499 UniProt P31277 P23813 RefSeq (mRNA) NM_021192 NM_008273 RefSeq (protein) NP_067015 NP_032299 Location (UCSC) Chr 2: 176.1 – 176.11 Mb Chr 2: 74.51 – 74.52 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Homeobox protein Hox-D11 is a protein that in humans is encoded by the HOXD11 gene. ^{[5] [6] [7]}

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 in a cluster on chromosome 2. Deletions that remove the entire HOXD gene cluster or the 5' end of this cluster have been associated with severe limb and genital abnormalities. The product of the mouse Hoxd11 gene plays a role in axial skeleton development and forelimb morphogenesis. ^{[7] [8] [9] [10]}

See also

• Homeobox

References

1. GRCh38: Ensembl release 89: ENSG00000128713 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000042499 – 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. McAlpine PJ, Shows TB (August 1990). "Nomenclature for human homeobox genes". Genomics. 7 (3): 460. doi:10.1016/0888-7543(90)90186-X. PMID   1973146.
6. Scott MP (December 1992). "Vertebrate homeobox gene nomenclature". Cell. 71 (4): 551–3. doi:10.1016/0092-8674(92)90588-4. PMID   1358459. S2CID   13370372.
7. "HOXD11 homeobox D11".
8. Davis AP, Capecchi MR (1 August 1994). "Axial homeosis and appendicular skeleton defects in mice with a targeted disruption of hoxd-11". Development. 120 (8): 2187–98. doi:10.1242/dev.120.8.2187. PMID   7925020.
9. Davis AP, Witte DP, Hsieh-Li HM, Potter SS, Capecchi MR (June 1995). "Absence of radius and ulna in mice lacking hoxa-11 and hoxd-11". Nature. 375 (6534): 791–5. Bibcode:1995Natur.375..791D. doi:10.1038/375791a0. PMID   7596412. S2CID   4256901.
10. Davis AP, Capecchi MR (1 April 1996). "A mutational analysis of the 5' HoxD genes: dissection of genetic interactions during limb development in the mouse". Development. 122 (4): 1175–85. doi:10.1242/dev.122.4.1175. PMID   8620844.

Further reading

• Johnson RL, Tabin CJ (1997). "Molecular models for vertebrate limb development". Cell. 90 (6): 979–90. doi: 10.1016/S0092-8674(00)80364-5 . PMID   9323126. S2CID   16213729.
• 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.
• 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.
• Shen WF, Montgomery JC, Rozenfeld S, et al. (1997). "AbdB-like Hox proteins stabilize DNA binding by the Meis1 homeodomain proteins". Mol. Cell. Biol. 17 (11): 6448–58. doi:10.1128/MCB.17.11.6448. PMC   232497 . PMID   9343407.
• Hérault Y, Beckers J, Gérard M, Duboule D (1999). "Hox gene expression in limbs: colinearity by opposite regulatory controls". Dev. Biol. 208 (1): 157–65. doi: 10.1006/dbio.1998.9179 . PMID   10075849.
• 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.
• 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 (inactive 2024-08-22). PMID   11060466. S2CID   35579702.
• Patterson LT, Pembaur M, Potter SS (2001). "Hoxa11 and Hoxd11 regulate branching morphogenesis of the ureteric bud in the developing kidney". Development. 128 (11): 2153–61. doi: 10.1242/dev.128.11.2153 . PMID   11493536.
• 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.
• Taketani T, Taki T, Shibuya N, et al. (2002). "The HOXD11 gene is fused to the NUP98 gene in acute myeloid leukemia with t(2;11)(q31;p15)". Cancer Res. 62 (1): 33–7. PMID   11782354.
• 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.
• Boulet AM, Capecchi MR (2002). "Duplication of the Hoxd11 gene causes alterations in the axial and appendicular skeleton of the mouse". Dev. Biol. 249 (1): 96–107. doi: 10.1006/dbio.2002.0755 . PMID   12217321.
• 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. Bibcode:2002PNAS...9916899M. doi: 10.1073/pnas.242603899 . PMC   139241 . PMID   12477932.
• 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. PMC   1785357 . PMID   17236141.

External links

• HOXD11+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.