HOXD4

Homeobox protein Hox-D4 is a protein that in humans is encoded by the HOXD4 gene.

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; OMA:HOXD4 - orthologs
Gene location (Human) Chr. Chromosome 2 (human) Band 2q31.1 Start 176,151,550 bp End 176,153,226 bp
Gene location (Mouse) Chr. Chromosome 2 (mouse) Band 2 C3|2 44.13 cM Start 74,542,273 bp End 74,559,504 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in body of uterus right uterine tube corpus epididymis testicle right ovary left ovary left uterine tube tail of epididymis human kidney left adrenal cortex Top expressed in cervical vertebral column thoracic vertebral column tail of embryo lumbar subsegment of spinal cord enteric nervous system lactiferous gland genital tubercle embryo transitional epithelium of urinary bladder uterus More reference expression data BioGPS n/a
Gene ontology Molecular function DNA-binding transcription factor activity sequence-specific DNA binding DNA binding RNA polymerase II transcription regulatory region sequence-specific DNA binding DNA-binding transcription activator activity, RNA polymerase II-specific DNA-binding transcription factor activity, RNA polymerase II-specific Cellular component nucleus nucleoplasm cell junction Biological process transcription, DNA-templated regulation of transcription, DNA-templated multicellular organism development transcription by RNA polymerase II positive regulation of transcription by RNA polymerase II 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: 74.54 – 74.56 Mb PubMed search
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.

See also

• Homeobox

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. S2CID 4368394.
• 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. doi:10.1128/mcb.19.11.7577. 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. S2CID 35579702.
• 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. S2CID 1549455.

External links

• HOXD4+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.