HOXD13

Homeobox D13
Identifiers
Symbols	HOXD13 ; BDE; BDSD; HOX4I; SPD
External IDs	OMIM: 142989 MGI: 96205 HomoloGene: 20147 GeneCards: HOXD13 Gene
Gene ontology Molecular function • RNA polymerase II core promoter proximal region sequence-specific DNA binding • transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding • DNA binding • chromatin binding Cellular component • nucleus Biological process • skeletal system development • regulation of transcription, DNA-templated • transcription from RNA polymerase II promoter • multicellular organismal development • anterior/posterior pattern specification • male genitalia development • regulation of cell proliferation • embryonic digit morphogenesis • positive regulation of transcription from RNA polymerase II promoter • embryonic hindgut morphogenesis • prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis • morphogenesis of an epithelial fold • branch elongation of an epithelium • regulation of branching involved in prostate gland morphogenesis Sources: Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	3239	15433
Ensembl	ENSG00000128714	ENSMUSG00000001819
UniProt	P35453	P70217
RefSeq (mRNA)	NM_000523	NM_008275
RefSeq (protein)	NP_000514	NP_032301
Location (UCSC)	Chr 2: 176.09 – 176.1 Mb	Chr 2: 74.67 – 74.67 Mb
PubMed search

Homeobox protein Hox-D13 is a protein that in humans is encoded by the HOXD13 gene.^[1][2][3]

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. Mutations in this particular gene cause synpolydactyly and Brachydactyly.^[3] The product of the mouse Hoxd13 gene plays a role in axial skeleton development and forelimb morphogenesis.^[4]

See also

• Homeobox

References

1. 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.
2. 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.
3. "Entrez Gene: HOXD13 homeobox D13".
4. Davis AP, Capecchi MR (Apr 1996). "A mutational analysis of the 5' HoxD genes: dissection of genetic interactions during limb development in the mouse". Development 122 (4): 1175–85. PMID 8620844.

Further reading

• Johnson RL, Tabin CJ (Sep 1997). "Molecular models for vertebrate limb development". Cell 90 (6): 979–90. doi:10.1016/S0092-8674(00)80364-5. PMID 9323126.
• 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.
• Scott MP (Nov 1992). "Vertebrate homeobox gene nomenclature". Cell 71 (4): 551–3. doi:10.1016/0092-8674(92)90588-4. PMID 1358459.
• D'Esposito M, Morelli F, Acampora D, Migliaccio E, Simeone A, Boncinelli E (May 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.
• Sarfarazi M, Akarsu AN, Sayli BS (Aug 1995). "Localization of the syndactyly type II (synpolydactyly) locus to 2q31 region and identification of tight linkage to HOXD8 intragenic marker". Human Molecular Genetics 4 (8): 1453–8. doi:10.1093/hmg/4.8.1453. PMID 7581388.
• Muragaki Y, Mundlos S, Upton J, Olsen BR (Apr 1996). "Altered growth and branching patterns in synpolydactyly caused by mutations in HOXD13". Science 272 (5261): 548–51. doi:10.1126/science.272.5261.548. PMID 8614804.
• Akarsu AN, Stoilov I, Yilmaz E, Sayli BS, Sarfarazi M (Jul 1996). "Genomic structure of HOXD13 gene: a nine polyalanine duplication causes synpolydactyly in two unrelated families". Human Molecular Genetics 5 (7): 945–52. doi:10.1093/hmg/5.7.945. PMID 8817328.
• Warren ST (Jan 1997). "Polyalanine expansion in synpolydactyly might result from unequal crossing-over of HOXD13". Science 275 (5298): 408–9. doi:10.1126/science.275.5298.408. PMID 9005557.
• Goodman FR, Mundlos S, Muragaki Y, Donnai D, Giovannucci-Uzielli ML, Lapi E, Majewski F, McGaughran J, McKeown C, Reardon W, Upton J, Winter RM, Olsen BR, Scambler PJ (Jul 1997). "Synpolydactyly phenotypes correlate with size of expansions in HOXD13 polyalanine tract". Proceedings of the National Academy of Sciences of the United States of America 94 (14): 7458–63. doi:10.1073/pnas.94.14.7458. PMC 23843. PMID 9207113.
• Goodman F, Giovannucci-Uzielli ML, Hall C, Reardon W, Winter R, Scambler P (Oct 1998). "Deletions in HOXD13 segregate with an identical, novel foot malformation in two unrelated families". American Journal of Human Genetics 63 (4): 992–1000. doi:10.1086/302070. PMC 1377502. PMID 9758628.
• 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.
• Harrington JJ, Sherf B, Rundlett S, Jackson PD, Perry R, Cain S, Leventhal C, Thornton M, Ramachandran R, Whittington J, Lerner L, Costanzo D, McElligott K, Boozer S, Mays R, Smith E, Veloso N, Klika A, Hess J, Cothren K, Lo K, Offenbacher J, Danzig J, Ducar M (May 2001). "Creation of genome-wide protein expression libraries using random activation of gene expression". Nature Biotechnology 19 (5): 440–5. doi:10.1038/88107. PMID 11329013.
• 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.
• Debeer P, Bacchelli C, Scambler PJ, De Smet L, Fryns JP, Goodman FR (Nov 2002). "Severe digital abnormalities in a patient heterozygous for both a novel missense mutation in HOXD13 and a polyalanine tract expansion in HOXA13". Journal of Medical Genetics 39 (11): 852–6. doi:10.1136/jmg.39.11.852. PMC 1735011. PMID 12414828.
• Caronia G, Goodman FR, McKeown CM, Scambler PJ, Zappavigna V (Apr 2003). "An I47L substitution in the HOXD13 homeodomain causes a novel human limb malformation by producing a selective loss of function". Development 130 (8): 1701–12. doi:10.1242/dev.00396. PMID 12620993.

External links

• HOXD13 protein, human at the US 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.