HOXD12

Homeobox protein Hox-D12 is a protein that in humans is encoded by the HOXD12 gene.

HOXD12
Identifiers
Aliases	HOXD12, HOX4H, homeobox D12
External IDs	OMIM: 142988; MGI: 96204; HomoloGene: 7369; GeneCards: HOXD12; OMA:HOXD12 - orthologs
Gene location (Human) Chr. Chromosome 2 (human) Band 2q31.1 Start 176,099,795 bp End 176,102,489 bp
Gene location (Mouse) Chr. Chromosome 2 (mouse) Band 2 C3|2 44.13 cM Start 74,505,357 bp End 74,508,049 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in vagina muscle layer of sigmoid colon rectum ectocervix prostate canal of the cervix urinary bladder wall of uterus myometrium kidney Top expressed in genital tubercle urethra tail of embryo female urethra male urethra muscle layer of urethra hand epithelium of male urethra footplate sclerotome 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
Wikidata
View/Edit Human View/Edit Mouse

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.

See also

• Homeobox

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.