HOXD12: Difference between revisions

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<!-- The PBB_Controls template provides controls for Protein Box Bot, please see Template:PBB_Controls for details. -->
{{Infobox gene}}
{{PBB_Controls
'''Homeobox protein Hox-D12''' is a [[protein]] that in humans is encoded by the ''HOXD12'' [[gene]].<ref name="pmid1675198">{{cite journal |vauthors=D'Esposito M, Morelli F, Acampora D, Migliaccio E, Simeone A, Boncinelli E | title = EVX2, a human homeobox gene homologous to the even-skipped segmentation gene, is localized at the 5' end of HOX4 locus on chromosome 2 | journal = Genomics | volume = 10 | issue = 1 | pages = 43–50 |date=July 1991| pmid = 1675198 | pmc =  | doi =10.1016/0888-7543(91)90482-T }}</ref><ref name="pmid1973146">{{cite journal |vauthors=McAlpine PJ, Shows TB | title = Nomenclature for human homeobox genes | journal = Genomics | volume = 7 | issue = 3 | pages = 460 |date=August 1990| pmid = 1973146 | pmc =  | doi =10.1016/0888-7543(90)90186-X }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: HOXD12 homeobox D12| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=3238| accessdate = }}</ref>
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| update_protein_box = yes
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<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
{{GNF_Protein_box
| image =
| image_source =
| PDB =
| Name = Homeobox D12
| HGNCid = 5135
| Symbol = HOXD12
| AltSymbols =; HOX4H
| OMIM = 142988
| ECnumber =
| Homologene = 7369
| MGIid = 96204
  | GeneAtlas_image1 = PBB_GE_HOXD12_221411_at_tn.png
| Function = {{GNF_GO|id=GO:0003700 |text = transcription factor activity}} {{GNF_GO|id=GO:0043565 |text = sequence-specific DNA binding}}
  | Component = {{GNF_GO|id=GO:0000228 |text = nuclear chromosome}} {{GNF_GO|id=GO:0005634 |text = nucleus}}
| Process = {{GNF_GO|id=GO:0001501 |text = skeletal development}} {{GNF_GO|id=GO:0006355 |text = regulation of transcription, DNA-dependent}} {{GNF_GO|id=GO:0007275 |text = multicellular organismal development}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 3238
    | Hs_Ensembl = ENSG00000170178
    | Hs_RefseqProtein = NP_067016
    | Hs_RefseqmRNA = NM_021193
    | Hs_GenLoc_db =   
    | Hs_GenLoc_chr = 2
    | Hs_GenLoc_start = 176672776
    | Hs_GenLoc_end = 176673734
    | Hs_Uniprot = P35452
    | Mm_EntrezGene = 15432
    | Mm_Ensembl = ENSMUSG00000001823
    | Mm_RefseqmRNA = NM_008274
    | Mm_RefseqProtein = NP_032300
    | Mm_GenLoc_db =   
    | Mm_GenLoc_chr = 2
    | Mm_GenLoc_start = 74475926
    | Mm_GenLoc_end = 74478544
    | Mm_Uniprot = Q8BSN0
  }}
}}
'''Homeobox D12''', also known as '''HOXD12''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: HOXD12 homeobox D12| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=3238| accessdate = }}</ref>


<!-- The PBB_Summary template is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
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. The product of the mouse Hoxd12 gene plays a role in axial skeleton development and forelimb morphogenesis.<ref name="pmid8620844">{{cite journal |vauthors=Davis AP, Capecchi MR | title = A mutational analysis of the 5' HoxD genes: dissection of genetic interactions during limb development in the mouse | journal = Development | volume = 122 | issue = 4 | pages = 1175–85 | date=1 April 1996| pmid = 8620844 | url = http://dev.biologists.org/cgi/pmidlookup?view=long&pmid=8620844 }}</ref>
{{PBB_Summary
| section_title =
| summary_text = 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. The product of the mouse Hoxd12 gene plays a role in axial skeleton development and forelimb morphogenesis.<ref>Davis AP, Capecchi MR.'''A mutational analysis of the 5' HoxD genes: dissection of genetic interactions during limb development in the mouse.''' ''Development.'' 1996 Apr;122(4):1175-85.  [http://www.ncbi.nlm.nih.gov/pubmed/8620844 PMID:8620844]</ref>
}}


==See also==
==See also==
Line 58: Line 8:


==References==
==References==
{{reflist|2}}
{{Reflist}}


==Further reading==
==Further reading==
{{refbegin | 2}}
{{Refbegin | 2}}
{{PBB_Further_reading  
{{PBB_Further_reading  
| citations =  
| citations =  
*{{cite journal  | author=Johnson RL, Tabin CJ |title=Molecular models for vertebrate limb development. |journal=Cell |volume=90 |issue= 6 |pages= 979-90 |year= 1997 |pmid= 9323126 |doi=  }}
*{{cite journal  |vauthors=Johnson RL, Tabin CJ |title=Molecular models for vertebrate limb development. |journal=Cell |volume=90 |issue= 6 |pages= 979–90 |year= 1997 |pmid= 9323126 |doi=10.1016/S0092-8674(00)80364-5 }}
*{{cite journal  | author=Goodman FR |title=Limb malformations and the human HOX genes. |journal=Am. J. Med. Genet. |volume=112 |issue= 3 |pages= 256-65 |year= 2003 |pmid= 12357469 |doi= 10.1002/ajmg.10776 }}
*{{cite journal  | author=Goodman FR |title=Limb malformations and the human HOX genes. |journal=Am. J. Med. Genet. |volume=112 |issue= 3 |pages= 256–65 |year= 2003 |pmid= 12357469 |doi= 10.1002/ajmg.10776 }}
*{{cite journal  | author=Scott MP |title=Vertebrate homeobox gene nomenclature. |journal=Cell |volume=71 |issue= 4 |pages= 551-3 |year= 1992 |pmid= 1358459 |doi= }}
*{{cite journal  | author=Scott MP |title=Vertebrate homeobox gene nomenclature. |journal=Cell |volume=71 |issue= 4 |pages= 551–3 |year= 1992 |pmid= 1358459 |doi=10.1016/0092-8674(92)90588-4 }}
*{{cite journal  | author=D'Esposito M, Morelli F, Acampora D, ''et al.'' |title=EVX2, a human homeobox gene homologous to the even-skipped segmentation gene, is localized at the 5' end of HOX4 locus on chromosome 2. |journal=Genomics |volume=10 |issue= 1 |pages= 43-50 |year= 1991 |pmid= 1675198 |doi=  }}
*{{cite journal   |vauthors=Acampora D, D'Esposito M, Faiella A, etal |title=The human HOX gene family |journal=Nucleic Acids Res. |volume=17 |issue= 24 |pages= 10385–402 |year= 1990 |pmid= 2574852 |doi=10.1093/nar/17.24.10385  | pmc=335308 }}
*{{cite journal  | author=McAlpine PJ, Shows TB |title=Nomenclature for human homeobox genes. |journal=Genomics |volume=7 |issue= 3 |pages= 460 |year= 1990 |pmid= 1973146 |doi= }}
*{{cite journal   |vauthors=Shen WF, Montgomery JC, Rozenfeld S, etal |title=AbdB-like Hox proteins stabilize DNA binding by the Meis1 homeodomain proteins |journal=Mol. Cell. Biol. |volume=17 |issue= 11 |pages= 6448–58 |year= 1997 |pmid= 9343407 |doi= | pmc=232497 }}
*{{cite journal | author=Acampora D, D'Esposito M, Faiella A, ''et al.'' |title=The human HOX gene family. |journal=Nucleic Acids Res. |volume=17 |issue= 24 |pages= 10385-402 |year= 1990 |pmid= 2574852 |doi=  }}
*{{cite journal   |vauthors=Del Campo M, Jones MC, Veraksa AN, etal |title=Monodactylous limbs and abnormal genitalia are associated with hemizygosity for the human 2q31 region that includes the HOXD cluster |journal=Am. J. Hum. Genet. |volume=65 |issue= 1 |pages= 104–10 |year= 1999 |pmid= 10364522 |doi=10.1086/302467  | pmc=1378080 }}
*{{cite journal | author=Shen WF, Montgomery JC, Rozenfeld S, ''et al.'' |title=AbdB-like Hox proteins stabilize DNA binding by the Meis1 homeodomain proteins. |journal=Mol. Cell. Biol. |volume=17 |issue= 11 |pages= 6448-58 |year= 1997 |pmid= 9343407 |doi=  }}
*{{cite journal  |vauthors=Kataoka K, Yoshitomo-Nakagawa K, Shioda S, Nishizawa M |title=A set of Hox proteins interact with the Maf oncoprotein to inhibit its DNA binding, transactivation, and transforming activities |journal=J. Biol. Chem. |volume=276 |issue= 1 |pages= 819–26 |year= 2001 |pmid= 11036080 |doi= 10.1074/jbc.M007643200 }}
*{{cite journal | author=Del Campo M, Jones MC, Veraksa AN, ''et al.'' |title=Monodactylous limbs and abnormal genitalia are associated with hemizygosity for the human 2q31 region that includes the HOXD cluster. |journal=Am. J. Hum. Genet. |volume=65 |issue= 1 |pages= 104-10 |year= 1999 |pmid= 10364522 |doi=  }}
*{{cite journal  |vauthors=Limongi MZ, Pelliccia F, Gaddini L, Rocchi A |title=Clustering of two fragile sites and seven homeobox genes in human chromosome region 2q31→q32.1 |journal=Cytogenet. Cell Genet. |volume=90 |issue= 1–2 |pages= 151–3 |year= 2000 |pmid= 11060466 |doi=10.1159/000015651 }}
*{{cite journal  | author=Kataoka K, Yoshitomo-Nakagawa K, Shioda S, Nishizawa M |title=A set of Hox proteins interact with the Maf oncoprotein to inhibit its DNA binding, transactivation, and transforming activities. |journal=J. Biol. Chem. |volume=276 |issue= 1 |pages= 819-26 |year= 2001 |pmid= 11036080 |doi= 10.1074/jbc.M007643200 }}
*{{cite journal  |vauthors=Goodman FR, Majewski F, Collins AL, Scambler PJ |title=A 117-kb Microdeletion Removing HOXD9–HOXD13 and EVX2 Causes Synpolydactyly |journal=Am. J. Hum. Genet. |volume=70 |issue= 2 |pages= 547–55 |year= 2002 |pmid= 11778160 |doi=10.1086/338921  | pmc=384929 }}
*{{cite journal  | author=Limongi MZ, Pelliccia F, Gaddini L, Rocchi A |title=Clustering of two fragile sites and seven homeobox genes in human chromosome region 2q31-->q32.1. |journal=Cytogenet. Cell Genet. |volume=90 |issue= 1-2 |pages= 151-3 |year= 2000 |pmid= 11060466 |doi=  }}
*{{cite journal   |vauthors=Kosaki K, Kosaki R, Suzuki T, etal |title=Complete mutation analysis panel of the 39 human HOX genes |journal=Teratology |volume=65 |issue= 2 |pages= 50–62 |year= 2002 |pmid= 11857506 |doi= 10.1002/tera.10009 }}
*{{cite journal  | author=Goodman FR, Majewski F, Collins AL, Scambler PJ |title=A 117-kb microdeletion removing HOXD9-HOXD13 and EVX2 causes synpolydactyly. |journal=Am. J. Hum. Genet. |volume=70 |issue= 2 |pages= 547-55 |year= 2002 |pmid= 11778160 |doi=  }}
*{{cite journal   |vauthors=Strausberg RL, Feingold EA, Grouse LH, etal |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 | pmc=139241 }}
*{{cite journal | author=Kosaki K, Kosaki R, Suzuki T, ''et al.'' |title=Complete mutation analysis panel of the 39 human HOX genes. |journal=Teratology |volume=65 |issue= 2 |pages= 50-62 |year= 2002 |pmid= 11857506 |doi= 10.1002/tera.10009 }}
*{{cite journal   |vauthors=Zhao X, Sun M, Zhao J, etal |title=Mutations in HOXD13 Underlie Syndactyly Type V and a Novel Brachydactyly-Syndactyly Syndrome |journal=Am. J. Hum. Genet. |volume=80 |issue= 2 |pages= 361–71 |year= 2007 |pmid= 17236141 |doi= 10.1086/511387 | pmc=1785357 }}
*{{cite journal | author=Strausberg RL, Feingold EA, Grouse LH, ''et al.'' |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899-903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 }}
*{{cite journal | author=Zhao X, Sun M, Zhao J, ''et al.'' |title=Mutations in HOXD13 underlie syndactyly type V and a novel brachydactyly-syndactyly syndrome. |journal=Am. J. Hum. Genet. |volume=80 |issue= 2 |pages= 361-71 |year= 2007 |pmid= 17236141 |doi= 10.1086/511387 }}
}}
}}
{{refend}}
{{Refend}}


== External links ==
== External links ==
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{{NLM content}}
{{NLM content}}
{{protein-stub}}
 
{{Transcription factors}}
{{Transcription factors|g3}}
 
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{{Use dmy dates|date=April 2017}}
 
{{DEFAULTSORT:Hoxd12}}
[[Category:Transcription factors]]
[[Category:Transcription factors]]
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{{gene-2-stub}}

Latest revision as of 14:01, 31 August 2017

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

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Ensembl

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UniProt

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RefSeq (mRNA)

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RefSeq (protein)

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Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

Homeobox protein Hox-D12 is a protein that in humans is encoded by the HOXD12 gene.[1][2][3]

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. The product of the mouse Hoxd12 gene plays a role in axial skeleton development and forelimb morphogenesis.[4]

See also

References

  1. ↑ D'Esposito M, Morelli F, Acampora D, Migliaccio E, Simeone A, Boncinelli E (July 1991). "EVX2, a human homeobox gene homologous to the even-skipped segmentation gene, is localized at the 5' end of HOX4 locus on chromosome 2". Genomics. 10 (1): 43–50. doi:10.1016/0888-7543(91)90482-T. PMID 1675198.
  2. ↑ McAlpine PJ, Shows TB (August 1990). "Nomenclature for human homeobox genes". Genomics. 7 (3): 460. doi:10.1016/0888-7543(90)90186-X. PMID 1973146.
  3. ↑ "Entrez Gene: HOXD12 homeobox D12".
  4. ↑ Davis AP, Capecchi MR (1 April 1996). "A mutational analysis of the 5' HoxD genes: dissection of genetic interactions during limb development in the mouse". Development. 122 (4): 1175–85. PMID 8620844.

Further reading

External links

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




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