HOXD9

Homeobox protein Hox-D9 is a protein that in humans is encoded by the HOXD9 gene.

HOXD9
Identifiers
Aliases	HOXD9, HOX4, HOX4C, Hox-4.3, Hox-5.2, homeobox D9
External IDs	OMIM: 142982; MGI: 96210; HomoloGene: 8409; GeneCards: HOXD9; OMA:HOXD9 - orthologs
Gene location (Human) Chr. Chromosome 2 (human) Band 2q31.1 Start 176,122,719 bp End 176,124,937 bp
Gene location (Mouse) Chr. Chromosome 2 (mouse) Band 2 C3|2 44.13 cM Start 74,528,071 bp End 74,530,552 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in body of uterus tendon of biceps brachii canal of the cervix vagina ectocervix myometrium muscle layer of sigmoid colon buccal mucosa cell testicle stromal cell of endometrium Top expressed in Gonadal ridge gastrula decidua medullary collecting duct endothelial cell of lymphatic vessel seminal vesicula medial head of gastrocnemius muscle cumulus cell tail of embryo urothelium More reference expression data BioGPS More reference expression data
Gene ontology Molecular function DNA binding sequence-specific DNA binding RNA polymerase II transcription regulatory region sequence-specific DNA binding DNA-binding transcription factor activity DNA-binding transcription repressor activity, RNA polymerase II-specific DNA-binding transcription factor activity, RNA polymerase II-specific Cellular component nucleus nucleolus Biological process embryonic skeletal system morphogenesis forelimb morphogenesis peripheral nervous system neuron development proximal/distal pattern formation regulation of transcription, DNA-templated adult locomotory behavior negative regulation of transcription by RNA polymerase II hindlimb morphogenesis transcription, DNA-templated single fertilization embryonic skeletal system development mammary gland development multicellular organism development regulation of gene expression skeletal muscle tissue development embryonic forelimb morphogenesis anterior/posterior pattern specification positive regulation of transcription by RNA polymerase II Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 3235 15438 Ensembl ENSG00000128709 ENSMUSG00000043342 UniProt P28356 P28357 RefSeq (mRNA) NM_014213 NM_013555 RefSeq (protein) NP_055028 NP_038583 Location (UCSC) Chr 2: 176.12 – 176.12 Mb Chr 2: 74.53 – 74.53 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 exact role of this gene has not been determined.

See also

• Homeobox

Further reading

• Zappavigna V, Renucci A, Izpisúa-Belmonte JC, Urier G, Peschle C, Duboule D (1992). "HOX4 genes encode transcription factors with potential auto- and cross-regulatory capacities". EMBO J. 10 (13): 4177–87. doi:10.1002/j.1460-2075.1991.tb04996.x. PMC 453170. PMID 1756725.
• Oliver G, Sidell N, Fiske W, Heinzmann C, Mohandas T, Sparkes RS, De Robertis EM (1989). "Complementary homeo protein gradients in developing limb buds". Genes Dev. 3 (5): 641–50. doi:10.1101/gad.3.5.641. PMID 2568311.
• Acampora D, D'Esposito M, Faiella A, Pannese M, Migliaccio E, Morelli F, Stornaiuolo A, Nigro V, Simeone A, Boncinelli E (1990). "The human HOX gene family". Nucleic Acids Res. 17 (24): 10385–402. doi:10.1093/nar/17.24.10385. PMC 335308. PMID 2574852.
• Kanzler B, Viallet JP, Le Mouellic H, Boncinelli E, Duboule D, Dhouailly D (1995). "Differential expression of two different homeobox gene families during mouse tegument morphogenesis". Int. J. Dev. Biol. 38 (4): 633–40. PMID 7779685.
• Zappavigna V, Sartori D, Mavilio F (1994). "Specificity of HOX protein function depends on DNA-protein and protein-protein interactions, both mediated by the homeo domain". Genes Dev. 8 (6): 732–44. doi:10.1101/gad.8.6.732. PMID 7926763.
• Zappavigna V, Falciola L, Helmer-Citterich M, Mavilio F, Bianchi ME (1996). "HMG1 interacts with HOX proteins and enhances their DNA binding and transcriptional activation". EMBO J. 15 (18): 4981–91. doi:10.1002/j.1460-2075.1996.tb00878.x. PMC 452236. PMID 8890171.
• Phelan ML, Featherstone MS (1997). "Distinct HOX N-terminal arm residues are responsible for specificity of DNA recognition by HOX monomers and HOX.PBX heterodimers". J. Biol. Chem. 272 (13): 8635–43. doi:10.1074/jbc.272.13.8635. PMID 9079695.
• 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.
• de la Cruz CC, Der-Avakian A, Spyropoulos DD, Tieu DD, Carpenter EM (2000). "Targeted disruption of Hoxd9 and Hoxd10 alters locomotor behavior, vertebral identity, and peripheral nervous system development". Dev. Biol. 216 (2): 595–610. doi:10.1006/dbio.1999.9528. PMID 10642795.
• 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, 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.
• Nguyen NC, Hirose T, Nakazawa M, Kobata T, Nakamura H, Nishioka K, Nakajima T (2002). "Expression of HOXD9 in fibroblast-like synoviocytes from rheumatoid arthritis patients". Int. J. Mol. Med. 10 (1): 41–8. doi:10.3892/ijmm.10.1.41. PMID 12060849.
• Méchine-Neuville A, Lefebvre O, Bellocq JP, Kedinger M, Simon-Assmann P (2003). "[Increased expression of HOXA9 gene in Hirschsprung disease]". Gastroenterol. Clin. Biol. 26 (12): 1110–7. PMID 12520199.
• Liu DB, Gu ZD, Cao XZ, Liu H, Li JY (2005). "Immunocytochemical detection of HoxD9 and Pbx1 homeodomain protein expression in Chinese esophageal squamous cell carcinomas". World J. Gastroenterol. 11 (10): 1562–6. doi:10.3748/wjg.v11.i10.1562. PMC 4305705. PMID 15770739.
• Zhao X, Sun M, Zhao J, Leyva JA, Zhu H, Yang W, Zeng X, Ao Y, Liu Q, Liu G, Lo WH, Jabs EW, Amzel LM, Shan X, Zhang X (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

• HOXD9+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.