HOXD13: Difference between revisions

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{{Infobox_gene}}
{{PBB_Controls
'''Homeobox protein Hox-D13''' is a [[protein]] that in humans is encoded by the ''HOXD13'' [[gene]].<ref name="pmid2574852">{{cite journal | vauthors = Acampora D, D'Esposito M, Faiella A, Pannese M, Migliaccio E, Morelli F, Stornaiuolo A, Nigro V, Simeone A, Boncinelli E | title = The human HOX gene family | journal = Nucleic Acids Research | volume = 17 | issue = 24 | pages = 10385–402 | date = Dec 1989 | pmid = 2574852 | pmc = 335308 | doi = 10.1093/nar/17.24.10385 }}</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 = Jul 1990 | pmid = 1973146 | pmc = | doi = 10.1016/0888-7543(90)90186-X }}</ref><ref name="entrez"/>
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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. -->
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. Mutations in this particular gene cause [[synpolydactyly]] and [[Brachydactyly]].<ref name="entrez">{{cite web | title = Entrez Gene: HOXD13 homeobox D13| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=3239| accessdate = }}</ref>  The product of the mouse Hoxd13 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 = Apr 1996 | pmid = 8620844 | url = http://dev.biologists.org/cgi/pmidlookup?view=long&pmid=8620844 }}</ref>
{{GNF_Protein_box
| image = 
| image_source = 
| PDB =
| Name = Homeobox D13
| HGNCid = 5136
| Symbol = HOXD13
| AltSymbols =; BDE; BDSD; HOX4I; SPD
| OMIM = 142989
| ECnumber = 
| Homologene = 20147
| MGIid = 96205
| GeneAtlas_image1 = PBB_GE_HOXD13_207397_s_at_tn.png
| GeneAtlas_image2 = PBB_GE_HOXD13_207398_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: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:0006366 |text = transcription from RNA polymerase II promoter}} {{GNF_GO|id=GO:0007389 |text = pattern specification process}} {{GNF_GO|id=GO:0030326 |text = embryonic limb morphogenesis}} {{GNF_GO|id=GO:0042127 |text = regulation of cell proliferation}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 3239
    | Hs_Ensembl = ENSG00000128714
    | Hs_RefseqProtein = NP_000514
    | Hs_RefseqmRNA = NM_000523
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = 2
    | Hs_GenLoc_start = 176665778
    | Hs_GenLoc_end = 176668046
    | Hs_Uniprot = P35453
    | Mm_EntrezGene = 15433
    | Mm_Ensembl = ENSMUSG00000001819
    | Mm_RefseqmRNA = NM_008275
    | Mm_RefseqProtein = NP_032301
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr = 2
    | Mm_GenLoc_start = 74469149
    | Mm_GenLoc_end = 74470975
    | Mm_Uniprot = P70217
  }}
}}
'''Homeobox D13''', also known as '''HOXD13''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: HOXD13 homeobox D13| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=3239| accessdate = }}</ref>


<!-- The PBB_Summary template is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
== See also ==
{{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. Mutations in this particular gene cause synpolydactyly.<ref name="entrez">{{cite web | title = Entrez Gene: HOXD13 homeobox D13| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=3239| accessdate = }}</ref>
}}  The product of the mouse Hoxd13 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==
* [[Homeobox]]
* [[Homeobox]]


==References==
== References ==
{{reflist|2}}
{{Reflist}}
 
{{clear}}
==Further reading==
== Further reading ==
{{refbegin | 2}}
{{Refbegin|33em}}
{{PBB_Further_reading
* {{cite journal | vauthors = Johnson RL, Tabin CJ | title = Molecular models for vertebrate limb development | journal = Cell | volume = 90 | issue = 6 | pages = 979–90 | date = Sep 1997 | pmid = 9323126 | doi = 10.1016/S0092-8674(00)80364-5 }}
| citations =
* {{cite journal | vauthors = Goodman FR | title = Limb malformations and the human HOX genes | journal = American Journal of Medical Genetics | volume = 112 | issue = 3 | pages = 256–65 | date = Oct 2002 | pmid = 12357469 | doi = 10.1002/ajmg.10776 }}
*{{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 = Scott MP | title = Vertebrate homeobox gene nomenclature | journal = Cell | volume = 71 | issue = 4 | pages = 551–3 | date = Nov 1992 | pmid = 1358459 | doi = 10.1016/0092-8674(92)90588-4 }}
*{{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 | 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 = May 1991 | pmid = 1675198 | doi = 10.1016/0888-7543(91)90482-T }}
*{{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 | vauthors = Sarfarazi M, Akarsu AN, Sayli BS | title = Localization of the syndactyly type II (synpolydactyly) locus to 2q31 region and identification of tight linkage to HOXD8 intragenic marker | journal = Human Molecular Genetics | volume = 4 | issue = 8 | pages = 1453–8 | date = Aug 1995 | pmid = 7581388 | doi = 10.1093/hmg/4.8.1453 }}
*{{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 = Muragaki Y, Mundlos S, Upton J, Olsen BR | title = Altered growth and branching patterns in synpolydactyly caused by mutations in HOXD13 | journal = Science | volume = 272 | issue = 5261 | pages = 548–51 | date = Apr 1996 | pmid = 8614804 | doi = 10.1126/science.272.5261.548 }}
*{{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 = Akarsu AN, Stoilov I, Yilmaz E, Sayli BS, Sarfarazi M | title = Genomic structure of HOXD13 gene: a nine polyalanine duplication causes synpolydactyly in two unrelated families | journal = Human Molecular Genetics | volume = 5 | issue = 7 | pages = 945–52 | date = Jul 1996 | pmid = 8817328 | doi = 10.1093/hmg/5.7.945 }}
*{{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 = Warren ST | title = Polyalanine expansion in synpolydactyly might result from unequal crossing-over of HOXD13 | journal = Science | volume = 275 | issue = 5298 | pages = 408–9 | date = Jan 1997 | pmid = 9005557 | doi = 10.1126/science.275.5298.408 }}
*{{cite journal | author=Sarfarazi M, Akarsu AN, Sayli BS |title=Localization of the syndactyly type II (synpolydactyly) locus to 2q31 region and identification of tight linkage to HOXD8 intragenic marker. |journal=Hum. Mol. Genet. |volume=4 |issue= 8 |pages= 1453-8 |year= 1995 |pmid= 7581388 |doi= }}
* {{cite journal | vauthors = Goodman FR, Mundlos S, Muragaki Y, Donnai D, Giovannucci-Uzielli ML, Lapi E, Majewski F, McGaughran J, McKeown C, Reardon W, Upton J, Winter RM, Olsen BR, Scambler PJ | title = Synpolydactyly phenotypes correlate with size of expansions in HOXD13 polyalanine tract | journal = Proceedings of the National Academy of Sciences of the United States of America | volume = 94 | issue = 14 | pages = 7458–63 | date = Jul 1997 | pmid = 9207113 | pmc = 23843 | doi = 10.1073/pnas.94.14.7458 }}
*{{cite journal | author=Muragaki Y, Mundlos S, Upton J, Olsen BR |title=Altered growth and branching patterns in synpolydactyly caused by mutations in HOXD13. |journal=Science |volume=272 |issue= 5261 |pages= 548-51 |year= 1996 |pmid= 8614804 |doi= }}
* {{cite journal | vauthors = Goodman F, Giovannucci-Uzielli ML, Hall C, Reardon W, Winter R, Scambler P | title = Deletions in HOXD13 segregate with an identical, novel foot malformation in two unrelated families | journal = American Journal of Human Genetics | volume = 63 | issue = 4 | pages = 992–1000 | date = Oct 1998 | pmid = 9758628 | pmc = 1377502 | doi = 10.1086/302070 }}
*{{cite journal | author=Akarsu AN, Stoilov I, Yilmaz E, ''et al.'' |title=Genomic structure of HOXD13 gene: a nine polyalanine duplication causes synpolydactyly in two unrelated families. |journal=Hum. Mol. Genet. |volume=5 |issue= 7 |pages= 945-52 |year= 1997 |pmid= 8817328 |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 = Cytogenetics and Cell Genetics | volume = 90 | issue = 1-2 | pages = 151–3 | year = 2000 | pmid = 11060466 | doi = 10.1159/000015651 }}
*{{cite journal | author=Warren ST |title=Polyalanine expansion in synpolydactyly might result from unequal crossing-over of HOXD13. |journal=Science |volume=275 |issue= 5298 |pages= 408-9 |year= 1997 |pmid= 9005557 |doi= }}
* {{cite journal | vauthors = Harrington JJ, Sherf B, Rundlett S, Jackson PD, Perry R, Cain S, Leventhal C, Thornton M, Ramachandran R, Whittington J, Lerner L, Costanzo D, McElligott K, Boozer S, Mays R, Smith E, Veloso N, Klika A, Hess J, Cothren K, Lo K, Offenbacher J, Danzig J, Ducar M | title = Creation of genome-wide protein expression libraries using random activation of gene expression | journal = Nature Biotechnology | volume = 19 | issue = 5 | pages = 440–5 | date = May 2001 | pmid = 11329013 | doi = 10.1038/88107 }}
*{{cite journal | author=Goodman FR, Mundlos S, Muragaki Y, ''et al.'' |title=Synpolydactyly phenotypes correlate with size of expansions in HOXD13 polyalanine tract. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=94 |issue= 14 |pages= 7458-63 |year= 1997 |pmid= 9207113 |doi= }}
* {{cite journal | vauthors = Goodman FR, Majewski F, Collins AL, Scambler PJ | title = A 117-kb microdeletion removing HOXD9-HOXD13 and EVX2 causes synpolydactyly | journal = American Journal of Human Genetics | volume = 70 | issue = 2 | pages = 547–55 | date = Feb 2002 | pmid = 11778160 | pmc = 384929 | doi = 10.1086/338921 }}
*{{cite journal | author=Goodman F, Giovannucci-Uzielli ML, Hall C, ''et al.'' |title=Deletions in HOXD13 segregate with an identical, novel foot malformation in two unrelated families. |journal=Am. J. Hum. Genet. |volume=63 |issue= 4 |pages= 992-1000 |year= 1998 |pmid= 9758628 |doi= }}
* {{cite journal | vauthors = Kosaki K, Kosaki R, Suzuki T, Yoshihashi H, Takahashi T, Sasaki K, Tomita M, McGinnis W, Matsuo N | title = Complete mutation analysis panel of the 39 human HOX genes | journal = Teratology | volume = 65 | issue = 2 | pages = 50–62 | date = Feb 2002 | pmid = 11857506 | doi = 10.1002/tera.10009 }}
*{{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 = Debeer P, Bacchelli C, Scambler PJ, De Smet L, Fryns JP, Goodman FR | title = Severe digital abnormalities in a patient heterozygous for both a novel missense mutation in HOXD13 and a polyalanine tract expansion in HOXA13 | journal = Journal of Medical Genetics | volume = 39 | issue = 11 | pages = 852–6 | date = Nov 2002 | pmid = 12414828 | pmc = 1735011 | doi = 10.1136/jmg.39.11.852 }}
*{{cite journal | author=Harrington JJ, Sherf B, Rundlett S, ''et al.'' |title=Creation of genome-wide protein expression libraries using random activation of gene expression. |journal=Nat. Biotechnol. |volume=19 |issue= 5 |pages= 440-5 |year= 2001 |pmid= 11329013 |doi= 10.1038/88107 }}
* {{cite journal | vauthors = Caronia G, Goodman FR, McKeown CM, Scambler PJ, Zappavigna V | title = An I47L substitution in the HOXD13 homeodomain causes a novel human limb malformation by producing a selective loss of function | journal = Development | volume = 130 | issue = 8 | pages = 1701–12 | date = Apr 2003 | pmid = 12620993 | doi = 10.1242/dev.00396 }}
*{{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= }}
{{Refend}}
*{{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 | author=Debeer P, Bacchelli C, Scambler PJ, ''et al.'' |title=Severe digital abnormalities in a patient heterozygous for both a novel missense mutation in HOXD13 and a polyalanine tract expansion in HOXA13. |journal=J. Med. Genet. |volume=39 |issue= 11 |pages= 852-6 |year= 2002 |pmid= 12414828 |doi= }}
*{{cite journal | author=Caronia G, Goodman FR, McKeown CM, ''et al.'' |title=An I47L substitution in the HOXD13 homeodomain causes a novel human limb malformation by producing a selective loss of function. |journal=Development |volume=130 |issue= 8 |pages= 1701-12 |year= 2003 |pmid= 12620993 |doi= }}
}}
{{refend}}


== External links ==
== External links ==
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{{NLM content}}
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{{Transcription factors}}
{{Transcription factors|g3}}
 
{{DEFAULTSORT:Hoxd13}}
[[Category:Transcription factors]]
[[Category:Transcription factors]]
{{WikiDoc Sources}}
 
 
{{gene-2-stub}}

Latest revision as of 14:02, 31 August 2017

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Identifiers
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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
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Wikidata
View/Edit Human

Homeobox protein Hox-D13 is a protein that in humans is encoded by the HOXD13 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. Mutations in this particular gene cause synpolydactyly and Brachydactyly.[3] The product of the mouse Hoxd13 gene plays a role in axial skeleton development and forelimb morphogenesis.[4]

See also

References

  1. ↑ Acampora D, D'Esposito M, Faiella A, Pannese M, Migliaccio E, Morelli F, Stornaiuolo A, Nigro V, Simeone A, Boncinelli E (Dec 1989). "The human HOX gene family". Nucleic Acids Research. 17 (24): 10385–402. doi:10.1093/nar/17.24.10385. PMC 335308. PMID 2574852.
  2. ↑ McAlpine PJ, Shows TB (Jul 1990). "Nomenclature for human homeobox genes". Genomics. 7 (3): 460. doi:10.1016/0888-7543(90)90186-X. PMID 1973146.
  3. ↑ 3.0 3.1 "Entrez Gene: HOXD13 homeobox D13".
  4. ↑ Davis AP, Capecchi MR (Apr 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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