HOXD9

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Homeobox D9
PDB rendering based on 1puf.
Available structures: 1puf
Identifiers
Symbol(s) HOXD9; HOX4; HOX4C; Hox-4.3; Hox-5.2
External IDs OMIM: 142982 MGI: 96210 HomoloGene: 8409
RNA expression pattern

More reference expression data
Orthologs
Human Mouse
Entrez 3235 15438
Ensembl ENSG00000128709 ENSMUSG00000043342
Uniprot P28356 Q3UMQ3
Refseq NM_014213 (mRNA)
NP_055028 (protein)		 NM_013555 (mRNA)
NP_038583 (protein)
Location Chr 2: 176.7 - 176.7 Mb Chr 2: 74.5 - 74.5 Mb
Pubmed search [1] [2]

Homeobox D9, also known as HOXD9, is a human gene.[1]

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.[1]

Contents

[edit] See also

[edit] References

  1. ^ a b Entrez Gene: HOXD9 homeobox D9.

[edit] Further reading

  • Scott MP (1992). "Vertebrate homeobox gene nomenclature.". Cell 71 (4): 551–3. PMID 1358459. 
  • Zappavigna V, Renucci A, Izpisúa-Belmonte JC, et al. (1992). "HOX4 genes encode transcription factors with potential auto- and cross-regulatory capacities.". EMBO J. 10 (13): 4177–87. PMID 1756725. 
  • McAlpine PJ, Shows TB (1990). "Nomenclature for human homeobox genes.". Genomics 7 (3): 460. PMID 1973146. 
  • Oliver G, Sidell N, Fiske W, et al. (1989). "Complementary homeo protein gradients in developing limb buds.". Genes Dev. 3 (5): 641–50. PMID 2568311. 
  • Acampora D, D'Esposito M, Faiella A, et al. (1990). "The human HOX gene family.". Nucleic Acids Res. 17 (24): 10385–402. PMID 2574852. 
  • Kanzler B, Viallet JP, Le Mouellic H, et al. (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. PMID 7926763. 
  • Zappavigna V, Falciola L, Helmer-Citterich M, et al. (1996). "HMG1 interacts with HOX proteins and enhances their DNA binding and transcriptional activation.". EMBO J. 15 (18): 4981–91. 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. PMID 9079695. 
  • 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. PMID 10364522. 
  • de la Cruz CC, Der-Avakian A, Spyropoulos DD, et al. (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. PMID 11060466. 
  • 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. PMID 11778160. 
  • 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. 
  • Nguyen NC, Hirose T, Nakazawa M, et al. (2002). "Expression of HOXD9 in fibroblast-like synoviocytes from rheumatoid arthritis patients.". Int. J. Mol. Med. 10 (1): 41–8. PMID 12060849. 
  • 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. doi:10.1073/pnas.242603899. PMID 12477932. 
  • Méchine-Neuville A, Lefebvre O, Bellocq JP, et al. (2003). "[Increased expression of HOXA9 gene in Hirschsprung disease]". Gastroenterol. Clin. Biol. 26 (12): 1110–7. PMID 12520199. 
  • Liu DB, Gu ZD, Cao XZ, et al. (2005). "Immunocytochemical detection of HoxD9 and Pbx1 homeodomain protein expression in Chinese esophageal squamous cell carcinomas.". World J. Gastroenterol. 11 (10): 1562–6. PMID 15770739. 
  • Zhao X, Sun M, Zhao J, et al. (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. PMID 17236141. 

[edit] External links

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

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v • d • e
Transcription factors and intracellular receptors
(1) Basic domains
(1.1) Basic leucine zipper (bZIP)
Activating transcription factor (AATF, 1, 2, 3, 4, 5, 6, 7) • AP-1 (c-Fos, FOSB, FOSL1, FOSL2, c-Jun, JUNB, JUND) • BACH (1, 2) • BATF • BLZF1 • C/EBP (α, β, γ, δ, ε, ζ) • CREB (1, 3, L1) • CREM • DBP • DDIT3 • GABPA • HLF • MAF (B, F, G, K) • NFE (2, L1, L2) • NRL • NRF1 • XBP1
(1.2) Basic helix-loop-helix (bHLH)
ATOH1 • AhR • AHRR • ARNT • ASCL1 • BHLHB2 • BMAL (ARNTL, ARNTL2) • CLOCK • EPAS1 • HAND (1, 2) • HES (5, 6) • HEY (1, 2, L) • HES1 • HIF (1A, 3A) • ID (1, 2, 3, 4) • LYL1 • MXD4 • MYCL1 • MYCN • Myogenic regulatory factors (MyoD, Myogenin, MYF5, MYF6) • Neurogenins • NeuroD (1, 2) • NPAS (1, 2, 3) • OLIG (1, 2) • Scleraxis • TAL1 • Twist • USF1
(1.3) bHLH-ZIP
MAX • MITF • MNT • MLX • MXI1 • Myc • SREBP (1, 2)
(1.6) Basic helix-span-helix (bHSH)
(2) Zinc finger
DNA-binding domains
(2.1) Nuclear receptor (Cys4)
subfamily 1 (Thyroid hormone (α, β), CAR, FXR, LXR (α, β), PPAR (α, β/δ, γ), PXR, RAR (α, β, γ), ROR (α, β, γ), Rev-ErbA (α, β), VDR) • subfamily 2 (COUP-TF (I, II), Ear-2, HNF4 (α, γ), PNR, RXR (α, β, γ), Testicular receptor (2, 4), TLX) • subfamily 3 (Steroid hormone (Estrogen (α, β), Estrogen related (α, β, γ), Androgen, Glucocorticoid, Mineralocorticoid, Progesterone)) • subfamily 4 NUR (NGFIB, NOR1, NURR1) • subfamily 5 (LRH-1, SF1) • subfamily 6 (GCNF) • subfamily 0 (DAX1, SHP)
(2.2) Other Cys4
GATA (1, 2, 3, 4, 5, 6) • MTA (1, 2, 3)
(2.3) Cys2His2
ATBF1 • BCL(6, 11A, 11B) • CTCF • E4F1 • EGR (2, 3) • ERV3 • General transcription factors (TFIIA, TFIIB, TFIID, TFIIE, TFIIF: 1, 2, TFIIH: 1, 2, 4, 2I, 3A, 3C1, 3C2) • GFI1 • GLI-Krüppel family (1, 2, 3, YY1) • HIC (1, 2) • HIVEP (1, 2, 3) • IKZF (1, 2, 3) • ILF (2, 3) • KLF (2, 4, 5, 6, 9, 10, 11, 12, 13) • MTF1 • MYT1 • OSR1 • Sp1 • zinc finger ((3, 7, 9, 10, 19, 22, 24, 33B, 34, 35, 41, 43, 44, 51, 74, 143, 146, 148, 165, 202, 217, 219, 238, 239, 259, 267, 268, 281, 295, 318, 330, 346, 350, 365, 366, 384, 451, 452, 471, 593, 638, 649, 655) • Zbtb7 (7A) • ZBT (16, 17, 33)
(2.4) Cys6
(2.5) Alternating composition
AIRE • DIDO1 • GRLF1 • ING (1, 2, 4) • JARID (1A, 1B, 1C, 1D, 2) • JMJD1B
(3) Helix-turn-helix
domains
ARX • CDX (1, 2) • CRX • CUTL1 • DLX (3, 4, 5) • EMX2 • EN (1, 2) • FHL (1, 2, 3) • HESX1 • HHEX • HLX • Homeobox (A1, A3, A4, A5, A7, A9, A10, A11, A13, B1, B2, B3, B4, B5, B6, B7, B8, B9, B13, C4, C5, C6, C8, C9, C10, C11, C13, D1, D3, D4, D8, D9, D10, D11, D12, D13) • HOPX • MEIS (1, 2) • MEOX2 • MNX1 • MSX (1, 2) • NANOG • NKX (2-1, 2-5, 3-1) • PHF (3, 6, 10, 17) • POU domain (PIT-1, BRN-3: 1, 2, Octamer transcription factor: 1, 2, 3/4, 6, 7) • OTX (1, 2) • PDX1
(3.2) Paired box
PAX (1, 2, 3, 4, 5, 6, 7, 8, 9)
E2F (1, 2, 3, 4, 5) • FOX proteins (C1, C2, E1, G1, H1, K2, L2, M1, N3, O1A, , O3A, O4, P1, P2, P3)
HSF (1, 2, 4)
(3.5) Tryptophan clusters
ELF (4, 5) • EGF • ELK (1, 3, 4) • ERF • ERG • ETS (1, 2) • ETV (1, 4, 5, 6) • FLI1 • Interferon regulatory factors (1, 2, 3, 4, 5, 6, 7, 8) • MYB • MYBL2
(3.6) TEA domain
transcriptional enhancer factor 1, 2
(4) β-Scaffold factors with
minor groove contacts
(4.1) Rel homology region
NF-κB (NFKB1, NFKB2, REL, RELA, RELB) • NFAT (C1, C2, C3, C4, 5)
(4.2) STAT
STAT (1, 2, 3, 4, 5, 6)
(4.3) p53
(4.4) MADS box
Mef2 (A, B, C, D) • SRF
HNF (1A, 1B) • LEF1 • SOX (2, 3, 4, 5, 6, 8, 9, 10, 11, 13, 15, 18) • SRY • SSRP1
(4.10) Cold-shock domain
(4.11) Runt
(0) Other
transcription factors
(0.2) HMGI(Y)
HMGA (1, 2) • HBP1
Rb • RBL1 • RBL2
(0.5) AP-2/EREBP-related factors
Apetala 2 • EREBP • B3
(0.6) Miscellaneous
ARID (1A, 1B, 2, 3A, 3B, 4A) • CAP • IFI (16, 35) • MLL (2, 3, T1) • MNDA • NFI (A, B, C, X) • NFY (A, B, C) • Rho/Sigma • R-SMAD