HOXD4

Homeobox protein Hox-D4 is a protein that in humans is encoded by the HOXD4 gene.[5][6][7]

HOXD4
Identifiers
Aliases	HOXD4, HHO.C13, HOX-5.1, HOX4, HOX4B, Hox-4.2, homeobox D4
External IDs	OMIM: 142981 MGI: 96208 HomoloGene: 7773 GeneCards: HOXD4
Gene location (Human) Chr. Chromosome 2 (human)[1] Band 2q31.1 Start 176,151,550 bp[1] End 176,153,226 bp[1]
Gene location (Mouse) Chr. Chromosome 2 (mouse)[2] Band 2 C3|2 44.13 cM Start 74,711,929 bp[2] End 74,729,160 bp[2]
Gene ontology Molecular function • GO:0001131, GO:0001151, GO:0001130, GO:0001204 DNA-binding transcription factor activity • sequence-specific DNA binding • DNA binding • RNA polymerase II regulatory region sequence-specific DNA binding • GO:0001077, GO:0001212, GO:0001213, GO:0001211, GO:0001205 DNA-binding transcription activator activity, RNA polymerase II-specific • GO:0001200, GO:0001133, GO:0001201 DNA-binding transcription factor activity, RNA polymerase II-specific • activating transcription factor binding Cellular component • cell nucleus • nucleoplasm • cell junction Biological process • transcription, DNA-templated • regulation of transcription, DNA-templated • multicellular organism development • transcription from RNA polymerase II promoter • positive regulation of transcription from RNA polymerase II promoter • skeletal system development • anterior/posterior pattern specification • embryonic skeletal system morphogenesis Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	3233	15436
Ensembl	ENSG00000170166	ENSMUSG00000101174
UniProt	P09016	P10628
RefSeq (mRNA)	NM_014621	NM_010469
RefSeq (protein)	NP_055436	NP_034599
Location (UCSC)	Chr 2: 176.15 – 176.15 Mb	Chr 2: 74.71 – 74.73 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

Function

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 at 2q31-2q37 chromosome regions. Deletions that removed the entire HOXD gene cluster or 5' end of this cluster have been associated with severe limb and genital abnormalities. The protein encoded by this gene may play a role in determining positional values in developing limb buds. Alternatively spliced variants have been described but their full length nature has not been determined.[7]

See also

• Homeobox

References

1. GRCh38: Ensembl release 89: ENSG00000170166 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000101174 - 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 (Aug 1990). "Nomenclature for human homeobox genes". Genomics. 7 (3): 460. doi:10.1016/0888-7543(90)90186-X. PMID 1973146.
6. Scott MP (Dec 1992). "Vertebrate homeobox gene nomenclature". Cell. 71 (4): 551–3. doi:10.1016/0092-8674(92)90588-4. PMID 1358459.
7. "Entrez Gene: HOXD4 homeobox D4".

Further reading

• Cianetti L, Di Cristofaro A, Zappavigna V, Bottero L, Boccoli G, Testa U, Russo G, Boncinelli E, Peschle C (1990). "Molecular mechanisms underlying the expression of the human HOX-5.1 gene". Nucleic Acids Res. 18 (15): 4361–8. doi:10.1093/nar/18.15.4361. PMC 331252. PMID 1975093.
• Boncinelli E, Acampora D, Pannese M, D'Esposito M, Somma R, Gaudino G, Stornaiuolo A, Cafiero M, Faiella A, Simeone A (1990). "Organization of human class I homeobox genes". Genome. 31 (2): 745–56. doi:10.1139/g89-133. PMID 2576652.
• Mavilio F, Simeone A, Giampaolo A, Faiella A, Zappavigna V, Acampora D, Poiana G, Russo G, Peschle C, Boncinelli E (1987). "Differential and stage-related expression in embryonic tissues of a new human homoeobox gene". Nature. 324 (6098): 664–8. doi:10.1038/324664a0. PMID 2879245.
• Guazzi S, Lonigro R, Pintonello L, Boncinelli E, Di Lauro R, Mavilio F (1994). "The thyroid transcription factor-1 gene is a candidate target for regulation by Hox proteins". EMBO J. 13 (14): 3339–47. doi:10.1002/j.1460-2075.1994.tb06636.x. PMC 395231. PMID 7913891.
• Kim YH, Choi CY, Lee SJ, Conti MA, Kim Y (1998). "Homeodomain-interacting protein kinases, a novel family of co-repressors for homeodomain transcription factors". J. Biol. Chem. 273 (40): 25875–9. doi:10.1074/jbc.273.40.25875. PMID 9748262.
• Del Campo M, Jones MC, Veraksa AN, Curry CJ, Jones KL, Mascarello JT, Ali-Kahn-Catts Z, Drumheller T, McGinnis W (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.
• Shanmugam K, Green NC, Rambaldi I, Saragovi HU, Featherstone MS (1999). "PBX and MEIS as Non-DNA-Binding Partners in Trimeric Complexes with HOX Proteins". Mol. Cell. Biol. 19 (11): 7577–88. PMC 84774. PMID 10523646.
• 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.
• Shen WF, Krishnan K, Lawrence HJ, Largman C (2001). "The HOX Homeodomain Proteins Block CBP Histone Acetyltransferase Activity". Mol. Cell. Biol. 21 (21): 7509–22. doi:10.1128/MCB.21.21.7509-7522.2001. PMC 99922. PMID 11585930.
• 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, Yoshihashi H, Takahashi T, Sasaki K, Tomita M, McGinnis W, Matsuo N (2002). "Complete mutation analysis panel of the 39 human HOX genes". Teratology. 65 (2): 50–62. doi:10.1002/tera.10009. PMID 11857506.
• van Scherpenzeel Thim V, Remacle S, Picard J, Cornu G, Gofflot F, Rezsohazy R, Verellen-Dumoulin C (2006). "Mutation analysis of the HOX paralogous 4-13 genes in children with acute lymphoid malignancies: identification of a novel germline mutation of HOXD4 leading to a partial loss-of-function". Hum. Mutat. 25 (4): 384–95. doi:10.1002/humu.20155. PMID 15776434.

External links

• HOXD4+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.