HOXD4

Protein-coding gene
HOXD4
Identifiers
AliasesHOXD4, HHO.C13, HOX-5.1, HOX4, HOX4B, Hox-4.2, homeobox D4
External IDsOMIM: 142981; MGI: 96208; HomoloGene: 7773; GeneCards: HOXD4; OMA:HOXD4 - orthologs
Gene location (Human)
Chromosome 2 (human)
Chr.Chromosome 2 (human)[1]
Chromosome 2 (human)
Genomic location for HOXD4
Genomic location for HOXD4
Band2q31.1Start176,151,550 bp[1]
End176,153,226 bp[1]
Gene location (Mouse)
Chromosome 2 (mouse)
Chr.Chromosome 2 (mouse)[2]
Chromosome 2 (mouse)
Genomic location for HOXD4
Genomic location for HOXD4
Band2 C3|2 44.13 cMStart74,542,273 bp[2]
End74,559,504 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • right uterine tube

  • corpus epididymis

  • left uterine tube

  • kidney

  • caput epididymis

  • transverse colon

  • smooth muscle tissue

  • canal of the cervix

  • stromal cell of endometrium

  • myometrium
Top expressed in
  • enteric nervous system

  • uterus

  • seminal vesicula

  • thyroid gland

  • adrenal gland

  • kidney

  • pharynx

  • abdominal wall

  • renal cortex

  • genitourinary system
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
SpeciesHumanMouse
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 MbChr 2: 74.54 – 74.56 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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

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

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000170166 – Ensembl, May 2017
  2. ^ a b c 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. S2CID 13370372.
  7. ^ a b "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. 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

  • v
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  • e
(1) Basic domains
(1.1) Basic leucine zipper (bZIP)
(1.2) Basic helix-loop-helix (bHLH)
Group A
Group B
Group C
bHLH-PAS
Group D
Group E
Group F
bHLH-COE
(1.3) bHLH-ZIP
(1.4) NF-1
(1.5) RF-X
(1.6) Basic helix-span-helix (bHSH)
(2) Zinc finger DNA-binding domains
(2.1) Nuclear receptor (Cys4)
subfamily 1
subfamily 2
subfamily 3
subfamily 4
subfamily 5
subfamily 6
subfamily 0
(2.2) Other Cys4
(2.3) Cys2His2
(2.4) Cys6
(2.5) Alternating composition
(2.6) WRKY
(3) Helix-turn-helix domains
(3.1) Homeodomain
Antennapedia
ANTP class
protoHOX
Hox-like
metaHOX
NK-like
other
(3.2) Paired box
(3.3) Fork head / winged helix
(3.4) Heat shock factors
(3.5) Tryptophan clusters
(3.6) TEA domain
  • transcriptional enhancer factor
(4) β-Scaffold factors with minor groove contacts
(4.1) Rel homology region
(4.2) STAT
(4.3) p53-like
(4.4) MADS box
(4.6) TATA-binding proteins
(4.7) High-mobility group
(4.9) Grainyhead
(4.10) Cold-shock domain
(4.11) Runt
(0) Other transcription factors
(0.2) HMGI(Y)
(0.3) Pocket domain
(0.5) AP-2/EREBP-related factors
(0.6) Miscellaneous
see also transcription factor/coregulator deficiencies

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


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