HOXD8

HOXD8
Identifiers
Aliases	HOXD8 , HOX4, HOX4E, HOX5.4, homeobox D8
External IDs	OMIM: 142985 MGI: 96209 HomoloGene: 10473 GeneCards: HOXD8
Gene location (Human) Chr. Chromosome 2 (human) [1] Band 2q31.1 Start 176,129,694 bp [1] End 176,132,695 bp [1]
Gene location (Mouse) Chr. Chromosome 2 (mouse) [2] Band 2 C3|2 44.13 cM Start 74,534,959 bp [2] End 74,538,277 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in germinal epithelium Achilles tendon kidney corpus epididymis renal medulla deltoid muscle secondary oocyte caput epididymis smooth muscle tissue sperm Top expressed in medullary collecting duct triceps brachii muscle seminal vesicula gastrocnemius muscle kidney epididymis seminiferous tubule dermis spermatid anterior horn of spinal cord More reference expression data BioGPS More reference expression data
Gene ontology Molecular function DNA-binding transcription factor activity RNA polymerase II transcription regulatory region sequence-specific DNA binding DNA binding 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 Biological process anterior/posterior pattern specification multicellular organism development anterior/posterior axis specification, embryo regulation of transcription, DNA-templated negative regulation of transcription by RNA polymerase II positive regulation of transcription by RNA polymerase II skeletal system morphogenesis transcription, DNA-templated transcription by RNA polymerase II Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 3234 15437 Ensembl ENSG00000175879 ENSMUSG00000027102 UniProt P13378 P23463 RefSeq (mRNA) NM_019558 NM_001199746 NM_001199747 NM_001290730 NM_001290731 NM_008276 RefSeq (protein) NP_001186675 NP_001186676 NP_062458 NP_001277659 NP_001277660 NP_032302 Location (UCSC) Chr 2: 176.13 – 176.13 Mb Chr 2: 74.53 – 74.54 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Homeobox protein Hox-D8 is a protein that in humans is encoded by the HOXD8 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. In addition to effects during embryogenesis, this particular gene may also play a role in adult urogenital tract function. ^[7]

References

1. GRCh38: Ensembl release 89: ENSG00000175879 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000027102 - 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. S2CID   13370372.
7. "Entrez Gene: HOXD8 homeobox D8".

Further reading

• 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.
• Redline RW, Williams AJ, Patterson P, Collins T (1992). "Human HOX4E: a gene strongly expressed in the adult male and female urogenital tracts". Genomics. 13 (2): 425–30. doi:10.1016/0888-7543(92)90263-R. PMID   1351871.
• Oliver G, Sidell N, Fiske W, et al. (1989). "Complementary homeo protein gradients in developing limb buds". Genes Dev. 3 (5): 641–50. doi: 10.1101/gad.3.5.641 . PMID   2568311.
• Manohar CF, Salwen HR, Furtado MR, Cohn SL (1996). "Up-regulation of HOXC6, HOXD1, and HOXD8 homeobox gene expression in human neuroblastoma cells following chemical induction of differentiation". Tumour Biol. 17 (1): 34–47. doi:10.1159/000217965. PMID   7501971.
• Guazzi S, Lonigro R, Pintonello L, et al. (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.
• Rosen DR, Brown RH (1993). "Dinucleotide repeat polymorphism in the HOX4E locus". Hum. Mol. Genet. 2 (5): 617. doi:10.1093/hmg/2.5.617. PMID   8100165.
• 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.
• 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.
• 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.

External links

• HOXD8+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.