HOXD12

HOXD12
Identifiers
Aliases	HOXD12 , HOX4H, homeobox D12
External IDs	OMIM: 142988 MGI: 96204 HomoloGene: 7369 GeneCards: HOXD12
Gene location (Human) Chr. Chromosome 2 (human) [1] Band 2q31.1 Start 176,099,795 bp [1] End 176,102,489 bp [1]
Gene location (Mouse) Chr. Chromosome 2 (mouse) [2] Band 2 C3|2 44.13 cM Start 74,505,357 bp [2] End 74,508,049 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in vagina rectum prostate canal of the cervix urinary bladder myometrium kidney renal cortex ovary Top expressed in urethra female urethra male urethra hand footplate sclerotome foot hand joint rectum pharynx More reference expression data BioGPS More reference expression data
Gene ontology Molecular function sequence-specific DNA binding DNA binding protein binding DNA-binding transcription factor activity, RNA polymerase II-specific Cellular component nucleus transcription regulator complex Biological process pattern specification process multicellular organism development skeletal system development embryonic digit morphogenesis regulation of transcription, DNA-templated transcription, DNA-templated regulation of transcription by RNA polymerase II Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 3238 15432 Ensembl ENSG00000170178 ENSMUSG00000001823 UniProt P35452 P23812 RefSeq (mRNA) NM_021193 NM_008274 RefSeq (protein) NP_067016 NP_032300 Location (UCSC) Chr 2: 176.1 – 176.1 Mb Chr 2: 74.51 – 74.51 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Homeobox protein Hox-D12 is a protein that in humans is encoded by the HOXD12 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 Hoxd12 gene plays a role in axial skeleton development and forelimb morphogenesis. ^[8]

See also

• Homeobox

References

1. GRCh38: Ensembl release 89: ENSG00000170178 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000001823 - 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. D'Esposito M, Morelli F, Acampora D, Migliaccio E, Simeone A, Boncinelli E (July 1991). "EVX2, a human homeobox gene homologous to the even-skipped segmentation gene, is localized at the 5' end of HOX4 locus on chromosome 2". Genomics. 10 (1): 43–50. doi:10.1016/0888-7543(91)90482-T. PMID   1675198.
6. 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.
7. "Entrez Gene: HOXD12 homeobox D12".
8. 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.
• Scott MP (1992). "Vertebrate homeobox gene nomenclature". Cell. 71 (4): 551–3. doi:10.1016/0092-8674(92)90588-4. PMID   1358459. S2CID   13370372.
• 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.
• 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.
• Kataoka K, Yoshitomo-Nakagawa K, Shioda S, Nishizawa M (2001). "A set of Hox proteins interact with the Maf oncoprotein to inhibit its DNA binding, transactivation, and transforming activities". J. Biol. Chem. 276 (1): 819–26. doi: 10.1074/jbc.M007643200 . PMID   11036080.
• 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. S2CID   35579702.
• 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.
• 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.
• 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

• HOXD12+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.