HOXD12
| HOXD12 | |||
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Gene ontology | |||
| Molecular function | |||
| Cellular component | |||
| Biological process | |||
| Sources:Amigo / QuickGO | |||
Ensembl | |||||||||
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| UniProt | |||||||||
| RefSeq (mRNA) | |||||||||
| RefSeq (protein) | |||||||||
| Location (UCSC) | Chr 2: 176.1 – 176.1 Mb | Chr 2: 74.51 – 74.51 Mb | |||||||
| PubMed search | [3] | [4] | |||||||
| 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
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000170178 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000001823 – 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.
- PMID 1675198.
- PMID 1973146.
- ^ "Entrez Gene: HOXD12 homeobox D12".
- PMID 8620844.
Further reading
- Johnson RL, Tabin CJ (1997). "Molecular models for vertebrate limb development". Cell. 90 (6): 979–90. S2CID 16213729.
- Goodman FR (2003). "Limb malformations and the human HOX genes". Am. J. Med. Genet. 112 (3): 256–65. PMID 12357469.
- Scott MP (1992). "Vertebrate homeobox gene nomenclature". Cell. 71 (4): 551–3. S2CID 13370372.
- Acampora D, D'Esposito M, Faiella A, et al. (1990). "The human HOX gene family". Nucleic Acids Res. 17 (24): 10385–402. 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. 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. 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. 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. 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. 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. 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. 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. PMID 17236141.
External links
- HOXD12+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)
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