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{{Short description|Protein-coding gene in the species Homo sapiens}}
{{Infobox_gene}}
{{Infobox_gene}}


'''Protein Jumonji''' is a [[protein]] that in humans is encoded by the ''JARID2'' [[gene]].<ref name="pmid8894700">{{cite journal |vauthors=Berge-Lefranc JL, Jay P, Massacrier A, Cau P, Mattei MG, Bauer S, Marsollier C, Berta P, Fontes M | title = Characterization of the human jumonji gene | journal = Hum Mol Genet | volume = 5 | issue = 10 | pages = 1637–41 |date=Feb 1997 | pmid = 8894700 | pmc = | doi =10.1093/hmg/5.10.1637 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: JARID2 jumonji, AT rich interactive domain 2| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=3720| accessdate = }}</ref> JARID2 is a member of the [[alpha-ketoglutarate-dependent hydroxylase]] superfamily.
'''Protein Jumonji''' is a [[protein]] that in humans is encoded by the ''JARID2'' [[gene]].<ref name="pmid8894700">{{cite journal |vauthors=Berge-Lefranc JL, Jay P, Massacrier A, Cau P, Mattei MG, Bauer S, Marsollier C, Berta P, Fontes M | title = Characterization of the human jumonji gene | journal = Hum Mol Genet | volume = 5 | issue = 10 | pages = 1637–41 |date=Feb 1997 | pmid = 8894700 | doi =10.1093/hmg/5.10.1637 | doi-access = free }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: JARID2 jumonji, AT rich interactive domain 2| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=3720}}</ref> JARID2 is a member of the [[alpha-ketoglutarate-dependent hydroxylase]] superfamily.


Jarid2 (jumonji, AT rich interactive domain 2) is a protein coding gene that functions as a putative transcription factor. Distinguished as a nuclear protein necessary for mouse embryogenesis, Jarid2 is a member of the jumonji family that contains a DNA binding domain known as the AT-rich interaction domain (ARID).<ref name="Kim">{{cite journal |vauthors=Kim TG, Kraus JC, Chen J, Lee Y |title=Jumonji, a critical factor for cardiac development, functions as a transcriptional repressor |journal=J. Biol. Chem. |volume=278 |issue= 43 |pages= 42247–55 |year= 2004 |pmid= 12890668 |doi= 10.1074/jbc.M307386200 }}</ref><ref name="Mysliwiec2">{{cite journal |vauthors=Mysliwiec MR, Kim TG, Lee Y |title=Characterization of zinc finger protein 496 that interacts with jumonji/jarid2. |journal=FEBS Letters |volume=581 |issue= 14 |pages= 2633–40 |year= 2007 |doi=10.1016/j.febslet.2007.05.006|pmid=17521633 |pmc=2002548 }}</ref><ref name="Takahashi">{{cite journal |vauthors=Takahashi M, Kojima M, Nakajima K, Suzuki-Migishima R, Motegi Y, Yokoyama M, Takeuchi, T|title=Cardiac abnormalities cause early lethality of jumonji mutant mice |journal=Biochemical and Biophysical Research Communications |volume=324 |issue= 4 |pages= 1319–23 |year= 2004 |doi=10.1016/j.bbrc.2004.09.203|pmid=15504358 }}</ref><ref name="Toyota">{{cite journal |vauthors=Toyoda M, Kojima M, Takeuchi T |title=Jumonji is a nuclear protein that participates in the negative regulation of cell growth|journal=Biochemical and Biophysical Research Communications |volume=274 |issue= 2 |pages= 332–6 |year= 2000 |doi=10.1006/bbrc.2000.3138|pmid=10913339}}</ref> In vitro studies of Jarid2 reveal that ARID along with other functional domains are involved in DNA binding, nuclear localization, transcriptional repression,<ref name="Klassen">{{cite journal |vauthors=Klassen SS, Rabkin SW |title=Nitric oxide induces gene expression of jumonji and retinoblastoma 2 protein while reducing expression of atrial natriuretic peptide precursor type B in cardiomyocytes |journal=Folia Biologica |volume=54 |issue=2 |pages=65–70 |year=2008 |pmid=18498724 }}</ref> and recruitment of Polycomb-repressive complex 2 (PRC2).<ref name="Pasini">{{cite journal |vauthors=Pasini D, Cloos PA, Walfridsson J, Olsson L, Bukowski JP, Johansen JV, Helin K|title=JARID2 regulates binding of the polycomb repressive complex 2 to target genes in ES cells. |journal=Nature |volume=464 |issue= 7286 |pages= 306–10 |year= 2010 |doi=10.1038/nature08788|pmid=20075857 }}</ref><ref name="Son">{{cite journal |vauthors=Son J, Shen SS, Margueron R, Reinberg D |title=Nucleosome-binding activities within JARID2 and EZH1 regulate the function of PRC2 on chromatin |journal=Genes & Development |volume=27 |issue= 24 |pages= 2663–77 |year= 2013 |doi=10.1101/gad.225888.113|pmid=24352422 |pmc=3877756 }}</ref> Intracellular mechanisms underlying these interactions remain largely unknown.
Jarid2 (jumonji, AT rich interactive domain 2) is a protein coding gene that functions as a putative [[transcription factor]]. Distinguished as a [[nuclear protein]] necessary for mouse [[embryogenesis]], Jarid2 is a member of the jumonji family that contains a DNA binding domain known as the [[ARID domain|AT-rich interaction domain]] (ARID).<ref name="Kim">{{cite journal |vauthors=Kim TG, Kraus JC, Chen J, Lee Y |title=Jumonji, a critical factor for cardiac development, functions as a transcriptional repressor |journal=J. Biol. Chem. |volume=278 |issue= 43 |pages= 42247–55 |year= 2004 |pmid= 12890668 |doi= 10.1074/jbc.M307386200 |doi-access= free }}</ref><ref name="Mysliwiec2">{{cite journal |vauthors=Mysliwiec MR, Kim TG, Lee Y |title=Characterization of zinc finger protein 496 that interacts with jumonji/jarid2. |journal=FEBS Letters |volume=581 |issue= 14 |pages= 2633–40 |year= 2007 |doi=10.1016/j.febslet.2007.05.006|pmid=17521633 |pmc=2002548 |bibcode=2007FEBSL.581.2633M }}</ref><ref name="Takahashi">{{cite journal |vauthors=Takahashi M, Kojima M, Nakajima K, Suzuki-Migishima R, Motegi Y, Yokoyama M, Takeuchi, T|title=Cardiac abnormalities cause early lethality of jumonji mutant mice |journal=Biochemical and Biophysical Research Communications |volume=324 |issue= 4 |pages= 1319–23 |year= 2004 |doi=10.1016/j.bbrc.2004.09.203|pmid=15504358 }}</ref><ref name="Toyota">{{cite journal |vauthors=Toyoda M, Kojima M, Takeuchi T |title=Jumonji is a nuclear protein that participates in the negative regulation of cell growth|journal=Biochemical and Biophysical Research Communications |volume=274 |issue= 2 |pages= 332–6 |year= 2000 |doi=10.1006/bbrc.2000.3138|pmid=10913339}}</ref> ''In vitro'' studies of Jarid2 reveal that ARID along with other functional domains are involved in DNA binding, nuclear localization, [[gene transcription|transcription]]al repression,<ref name="Klassen">{{cite journal |vauthors=Klassen SS, Rabkin SW |title=Nitric oxide induces gene expression of jumonji and retinoblastoma 2 protein while reducing expression of atrial natriuretic peptide precursor type B in cardiomyocytes |journal=Folia Biologica |volume=54 |issue=2 |pages=65–70 |year=2008 |doi=10.14712/fb2008054020065 |pmid=18498724 }}</ref> and recruitment of Polycomb-repressive complex 2 (PRC2).<ref name="Pasini">{{cite journal |vauthors=Pasini D, Cloos PA, Walfridsson J, Olsson L, Bukowski JP, Johansen JV, Helin K|title=JARID2 regulates binding of the polycomb repressive complex 2 to target genes in ES cells. |journal=Nature |volume=464 |issue= 7286 |pages= 306–10 |year= 2010 |doi=10.1038/nature08788|pmid=20075857 |bibcode=2010Natur.464..306P |s2cid=205219740 }}</ref><ref name="Son">{{cite journal |vauthors=Son J, Shen SS, Margueron R, Reinberg D |title=Nucleosome-binding activities within JARID2 and EZH1 regulate the function of PRC2 on chromatin |journal=Genes & Development |volume=27 |issue= 24 |pages= 2663–77 |year= 2013 |doi=10.1101/gad.225888.113|pmid=24352422 |pmc=3877756 }}</ref> Intracellular mechanisms underlying these interactions remain largely unknown.


In search of developmentally important genes, Jarid2 has previously been identified by gene trap technology as an important factor necessary for organ development.<ref name="Kim"/><ref name="Klassen"/><ref name="Jung">{{cite journal |vauthors=Jung J, Mysliwiec MR, Lee Y |title=Roles of Jumonji in mouse embryonic development |journal=Developmental Dynamics |volume=232 |issue=1 |pages=21–32 |year= 2005 |doi=10.1002/dvdy.20204|pmid=15580614 }}</ref> During mouse organogenesis, Jarid2 is involved in the formation of the neural tube and development of the liver, spleen, thymus and cardiovascular system.<ref name="Motoyama">{{cite journal |vauthors=Motoyama J, Kitajima K, Kojima M, Kondo S, Takeuchi T|title=Organogenesis of the liver, thymus and spleen is affected in jumonji mutant mice. |journal=Mechanisms of Development |volume=66 |issue= 1–2 |pages= 27–37 |year= 1997 |doi=10.1016/s0925-4773(97)00082-8|pmid=9376320 }}</ref><ref name="Takeuchi">{{cite journal |vauthors=Takeuchi T, Yamazaki Y, Katoh-Fukui Y, Tsuchiya R, Kondo S, Motoyama J, Higashinakagawa T |title=Gene trap capture of a novel mouse gene, jumonji, required for neural tube formation|journal=Genes & Development |volume=9 |issue= 10 |pages= 1211–22 |year= 1995 |doi=10.1101/gad.9.10.1211|pmid=7758946}}</ref> Continuous Jarid2 expression in the tissues of the heart, highlight its presiding role in the development of both the embryonic and the adult heart.<ref name="Kim"/> Mutant models of Jarid2 embryos show severe heart malformations, ventricular septal defects, noncompaction of the ventricular wall, and dilated atria.<ref name="Kim"/> Homozygous mutants of Jarid2 are found to die soon after birth.<ref name="Kim"/> Overexpression of the mouse Jarid2 gene has been reported to repress cardiomyocyte proliferation through it close interaction with retinoblastoma protein (Rb), a master cell cycle regulator.<ref name="Klassen" /><ref name="Jung" /><ref name="Mysliwiec">{{cite journal |vauthors=Mysliwiec MR, Chen J, Powers PA, Bartley CR, Schneider MD, Lee Y|title=Generation of a conditional null allele of jumonji. |journal=Genesis |volume=44 |issue= 9 |pages= 407–11 |year= 2000 |doi=10.1002/dvg.20221|pmid=16900512 |pmc=2002517 }}</ref> Retinoblastoma-binding protein-2 and the human SMCX protein share regions of homology between mice and humans.<ref name="pmid8894700" />
In search of developmentally important genes, Jarid2 has previously been identified by [[gene trap]] technology as an important factor necessary for [[organogenesis|organ development]].<ref name="Kim"/><ref name="Klassen"/><ref name="Jung">{{cite journal |vauthors=Jung J, Mysliwiec MR, Lee Y |title=Roles of Jumonji in mouse embryonic development |journal=Developmental Dynamics |volume=232 |issue=1 |pages=21–32 |year= 2005 |doi=10.1002/dvdy.20204|pmid=15580614 |s2cid=31338749 |doi-access=free }}</ref> During mouse organogenesis, Jarid2 is involved in the formation of the [[neural tube]] and development of the liver, spleen, thymus and cardiovascular system.<ref name="Motoyama">{{cite journal |vauthors=Motoyama J, Kitajima K, Kojima M, Kondo S, Takeuchi T|title=Organogenesis of the liver, thymus and spleen is affected in jumonji mutant mice. |journal=Mechanisms of Development |volume=66 |issue= 1–2 |pages= 27–37 |year= 1997 |doi=10.1016/s0925-4773(97)00082-8|pmid=9376320 |s2cid=6531281 |doi-access= }}</ref><ref name="Takeuchi">{{cite journal |vauthors=Takeuchi T, Yamazaki Y, Katoh-Fukui Y, Tsuchiya R, Kondo S, Motoyama J, Higashinakagawa T |title=Gene trap capture of a novel mouse gene, jumonji, required for neural tube formation|journal=Genes & Development |volume=9 |issue= 10 |pages= 1211–22 |year= 1995 |doi=10.1101/gad.9.10.1211|pmid=7758946|doi-access=free }}</ref> Continuous Jarid2 expression in the tissues of the heart, highlight its presiding role in the development of both the embryonic and the adult heart.<ref name="Kim"/> Mutant models of Jarid2 embryos show severe heart malformations, ventricular septal defects, [[Noncompaction cardiomyopathy|noncompaction of the ventricular wall]], and [[atrial enlargement]].<ref name="Kim"/> Homozygous mutants of Jarid2 are found to die soon after birth.<ref name="Kim"/> Overexpression of the mouse Jarid2 gene has been reported to repress [[cardiomyocyte proliferation]] through it close interaction with retinoblastoma protein (Rb), a master cell cycle regulator.<ref name="Klassen" /><ref name="Jung" /><ref name="Mysliwiec">{{cite journal |vauthors=Mysliwiec MR, Chen J, Powers PA, Bartley CR, Schneider MD, Lee Y|title=Generation of a conditional null allele of jumonji. |journal=Genesis |volume=44 |issue= 9 |pages= 407–11 |year= 2000 |doi=10.1002/dvg.20221|pmid=16900512 |pmc=2002517 }}</ref> Retinoblastoma-binding protein-2 and the human SMCX protein share regions of homology between mice and humans.<ref name="pmid8894700" />

==Model organisms==
{| class="wikitable sortable" border="1" cellpadding="2" style="float: right;" |
|+ ''Jarid2'' knockout mouse phenotype
|-
! Characteristic!! Phenotype
|-
| [[Homozygote]] viability || bgcolor="#C40000"|Abnormal
|-
| [[Recessive]] lethal study || bgcolor="#C40000"|Abnormal
|-
| Fertility || bgcolor="#488ED3"|Normal
|-
| Body weight || bgcolor="#488ED3"|Normal
|-
| [[Open Field (animal test)|Anxiety]] || bgcolor="#488ED3"|Normal
|-
| Neurological assessment || bgcolor="#488ED3"|Normal
|-
| Grip strength || bgcolor="#488ED3"|Normal
|-
| [[Hot plate test|Hot plate]] || bgcolor="#488ED3"|Normal
|-
| [[Dysmorphology]] || bgcolor="#488ED3"|Normal
|-
| [[Indirect calorimetry]] || bgcolor="#488ED3"|Normal
|-
| [[Glucose tolerance test]] || bgcolor="#488ED3"|Normal
|-
| [[Auditory brainstem response]] || bgcolor="#488ED3"|Normal
|-
| [[Dual-energy X-ray absorptiometry|DEXA]] || bgcolor="#488ED3"|Normal
|-
| [[Radiography]] || bgcolor="#488ED3"|Normal
|-
| Body temperature || bgcolor="#488ED3"|Normal
|-
| Eye morphology || bgcolor="#488ED3"|Normal
|-
| [[Clinical chemistry]] || bgcolor="#488ED3"|Normal
|-
| [[Blood plasma|Plasma]] [[immunoglobulin]]s || bgcolor="#488ED3"|Normal
|-
| [[Haematology]] || bgcolor="#488ED3"|Normal
|-
| [[Peripheral blood lymphocyte]]s || bgcolor="#488ED3"|Normal
|-
| [[Micronucleus test]] || bgcolor="#488ED3"|Normal
|-
| Heart weight || bgcolor="#488ED3"|Normal
|-
| Skin Histopathology || bgcolor="#488ED3"|Normal
|-
| Brain histopathology || bgcolor="#488ED3"|Normal
|-
| ''[[Salmonella]]'' infection || bgcolor="#488ED3"|Normal<ref name="''Salmonella'' infection">{{cite web |url=http://www.sanger.ac.uk/mouseportal/phenotyping/MAEF/salmonella-challenge/ |title=''Salmonella'' infection data for Jarid2 |publisher=Wellcome Trust Sanger Institute}}</ref>
|-
| ''[[Citrobacter]]'' infection || bgcolor="#488ED3"|Normal<ref name="''Citrobacter'' infection">{{cite web |url=http://www.sanger.ac.uk/mouseportal/phenotyping/MAEF/citrobacter-challenge/ |title=''Citrobacter'' infection data for Jarid2 |publisher=Wellcome Trust Sanger Institute}}</ref>
|-
| colspan=2; style="text-align: center;" | All tests and analysis from<ref name="mgp_reference">{{cite journal| doi = 10.1111/j.1755-3768.2010.4142.x| title = The Sanger Mouse Genetics Programme: High throughput characterisation of knockout mice| year = 2010| author = Gerdin AK| journal = Acta Ophthalmologica| volume = 88| issue = S248 }}</ref><ref>[http://www.sanger.ac.uk/mouseportal/ Mouse Resources Portal], Wellcome Trust Sanger Institute.</ref>
|}

[[Model organism]]s have been used in the study of JARID2 function. A conditional [[knockout mouse]] line, called ''Jarid2<sup>tm1a(KOMP)Wtsi</sup>''<ref name="allele_ref">{{cite web |url=http://www.knockoutmouse.org/martsearch/search?query=Jarid2 |title=International Knockout Mouse Consortium}}</ref><ref name="mgi_allele_ref">{{cite web |url=http://www.informatics.jax.org/searchtool/Search.do?query=MGI:4362782 |title=Mouse Genome Informatics}}</ref> was generated as part of the [[International Knockout Mouse Consortium]] program — a high-throughput mutagenesis project to generate and distribute animal models of disease to interested scientists — at the [[Wellcome Trust Sanger Institute]].<ref name="pmid21677750">{{Cite journal
| last1 = Skarnes |first1 =W. C.
| doi = 10.1038/nature10163
| last2 = Rosen | first2 = B.
| last3 = West | first3 = A. P.
| last4 = Koutsourakis | first4 = M.
| last5 = Bushell | first5 = W.
| last6 = Iyer | first6 = V.
| last7 = Mujica | first7 = A. O.
| last8 = Thomas | first8 = M.
| last9 = Harrow | first9 = J.
| last10 = Cox | first10 = T.
| last11 = Jackson | first11 = D.
| last12 = Severin | first12 = J.
| last13 = Biggs | first13 = P.
| last14 = Fu | first14 = J.
| last15 = Nefedov | first15 = M.
| last16 = De Jong | first16 = P. J.
| last17 = Stewart | first17 = A. F.
| last18 = Bradley | first18 = A.
| title = A conditional knockout resource for the genome-wide study of mouse gene function
| journal = Nature
| volume = 474
| issue = 7351
| pages = 337–342
| year = 2011
| pmid = 21677750
| pmc =3572410
}}</ref><ref name="mouse_library">{{cite journal |author=Dolgin E |title=Mouse library set to be knockout |journal=Nature |volume=474 |issue=7351 |pages=262–3 |date=June 2011 |pmid=21677718 |doi=10.1038/474262a }}</ref><ref name="mouse_for_all_reasons">{{cite journal |vauthors=Collins FS, Rossant J, Wurst W |title=A mouse for all reasons |journal=Cell |volume=128 |issue=1 |pages=9–13 |date=January 2007 |pmid=17218247 |doi=10.1016/j.cell.2006.12.018 }}</ref>

Male and female animals underwent a standardized [[phenotypic screen]] to determine the effects of deletion.<ref name="mgp_reference" /><ref name="pmid21722353">{{cite journal|vauthors=van der Weyden L, White JK, Adams DJ, Logan DW | title=The mouse genetics toolkit: revealing function and mechanism. | journal=Genome Biol | year= 2011 | volume= 12 | issue= 6 | pages= 224 | pmid=21722353 | doi=10.1186/gb-2011-12-6-224 | pmc=3218837}}</ref> Twenty six tests were carried out and two [[phenotypes]] were reported. [[Homozygous]] [[mutant]] embryos were identified during gestation but almost half showed signs of [[oedema]], and in a separate study, only 1% survived until [[weaning]] (significantly less than the [[Mendelian ratio]]). The remaining tests were carried out on [[heterozygous]] mutant adult mice; no significant abnormalities were observed in these animals.<ref name="mgp_reference" />


==References==
==References==
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{{refbegin | 2}}


*{{cite journal |vauthors=Lee Y, Song AJ, Baker R, etal |title=Jumonji, a nuclear protein that is necessary for normal heart development. |journal=Circ. Res. |volume=86 |issue= 9 |pages= 932–8 |year= 2000 |pmid= 10807864 |doi= 10.1161/01.res.86.9.932}}
*{{cite journal |vauthors=Lee Y, Song AJ, Baker R, etal |title=Jumonji, a nuclear protein that is necessary for normal heart development. |journal=Circ. Res. |volume=86 |issue= 9 |pages= 932–8 |year= 2000 |pmid= 10807864 |doi= 10.1161/01.res.86.9.932|doi-access=free }}
*{{cite journal |vauthors=Toyoda M, Kojima M, Takeuchi T |title=Jumonji is a nuclear protein that participates in the negative regulation of cell growth. |journal=Biochem. Biophys. Res. Commun. |volume=274 |issue= 2 |pages= 332–6 |year= 2000 |pmid= 10913339 |doi= 10.1006/bbrc.2000.3138 }}
*{{cite journal |vauthors=Toyoda M, Kojima M, Takeuchi T |title=Jumonji is a nuclear protein that participates in the negative regulation of cell growth. |journal=Biochem. Biophys. Res. Commun. |volume=274 |issue= 2 |pages= 332–6 |year= 2000 |pmid= 10913339 |doi= 10.1006/bbrc.2000.3138 }}
*{{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 |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 |bibcode=2002PNAS...9916899M |doi-access=free }}
*{{cite journal |vauthors=Mungall AJ, Palmer SA, Sims SK, etal |title=The DNA sequence and analysis of human chromosome 6. |journal=Nature |volume=425 |issue= 6960 |pages= 805–11 |year= 2003 |pmid= 14574404 |doi= 10.1038/nature02055 }}
*{{cite journal |vauthors=Mungall AJ, Palmer SA, Sims SK, etal |title=The DNA sequence and analysis of human chromosome 6. |journal=Nature |volume=425 |issue= 6960 |pages= 805–11 |year= 2003 |pmid= 14574404 |doi= 10.1038/nature02055 |bibcode=2003Natur.425..805M |doi-access= free }}
*{{cite journal |vauthors=Volcik KA, Zhu H, Finnell RH, etal |title=Evaluation of the jumonji gene and risk for spina bifida and congenital heart defects. |journal=Am. J. Med. Genet. A |volume=126 |issue= 2 |pages= 215–7 |year= 2004 |pmid= 15057990 |doi= 10.1002/ajmg.a.20574 }}
*{{cite journal |vauthors=Volcik KA, Zhu H, Finnell RH, etal |title=Evaluation of the jumonji gene and risk for spina bifida and congenital heart defects. |journal=Am. J. Med. Genet. A |volume=126 |issue= 2 |pages= 215–7 |year= 2004 |pmid= 15057990 |doi= 10.1002/ajmg.a.20574 |s2cid=221248186 }}
*{{cite journal |vauthors=Gerhard DS, Wagner L, Feingold EA, etal |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 | pmc=528928 }}
*{{cite journal |vauthors=Gerhard DS, Wagner L, Feingold EA, etal |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 | pmc=528928 }}
*{{cite journal |vauthors=Kim TG, Chen J, Sadoshima J, Lee Y |title=Jumonji represses atrial natriuretic factor gene expression by inhibiting transcriptional activities of cardiac transcription factors. |journal=Mol. Cell. Biol. |volume=24 |issue= 23 |pages= 10151–60 |year= 2005 |pmid= 15542826 |doi= 10.1128/MCB.24.23.10151-10160.2004 | pmc=529025 }}
*{{cite journal |vauthors=Kim TG, Chen J, Sadoshima J, Lee Y |title=Jumonji represses atrial natriuretic factor gene expression by inhibiting transcriptional activities of cardiac transcription factors. |journal=Mol. Cell. Biol. |volume=24 |issue= 23 |pages= 10151–60 |year= 2005 |pmid= 15542826 |doi= 10.1128/MCB.24.23.10151-10160.2004 | pmc=529025 }}
*{{cite journal |vauthors=Pedrosa E, Ye K, Nolan KA, etal |title=Positive association of schizophrenia to JARID2 gene. |journal=Am. J. Med. Genet. B Neuropsychiatr. Genet. |volume=144 |issue= 1 |pages= 45–51 |year= 2007 |pmid= 16967465 |doi= 10.1002/ajmg.b.30386 }}
*{{cite journal |vauthors=Pedrosa E, Ye K, Nolan KA, etal |title=Positive association of schizophrenia to JARID2 gene. |journal=Am. J. Med. Genet. B Neuropsychiatr. Genet. |volume=144 |issue= 1 |pages= 45–51 |year= 2007 |pmid= 16967465 |doi= 10.1002/ajmg.b.30386 |s2cid=25560999 }}
{{refend}}
{{refend}}


Latest revision as of 12:39, 23 December 2024

JARID2
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesJARID2, JMJ, jumonji and AT-rich interaction domain containing 2
External IDsOMIM: 601594; MGI: 104813; HomoloGene: 31279; GeneCards: JARID2; OMA:JARID2 - orthologs
Orthologs
SpeciesHumanMouse
Entrez

3720

16468

Ensembl

ENSG00000008083

ENSMUSG00000038518

UniProt

Q92833

Q62315

RefSeq (mRNA)

NM_001267040
NM_004973

NM_001205043
NM_001205044
NM_021878
NM_001360281

RefSeq (protein)

NP_001253969
NP_004964

NP_001191972
NP_001191973
NP_068678
NP_001347210

Location (UCSC)Chr 6: 15.25 – 15.52 MbChr 13: 44.88 – 45.08 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Protein Jumonji is a protein that in humans is encoded by the JARID2 gene.[5][6] JARID2 is a member of the alpha-ketoglutarate-dependent hydroxylase superfamily.

Jarid2 (jumonji, AT rich interactive domain 2) is a protein coding gene that functions as a putative transcription factor. Distinguished as a nuclear protein necessary for mouse embryogenesis, Jarid2 is a member of the jumonji family that contains a DNA binding domain known as the AT-rich interaction domain (ARID).[7][8][9][10] In vitro studies of Jarid2 reveal that ARID along with other functional domains are involved in DNA binding, nuclear localization, transcriptional repression,[11] and recruitment of Polycomb-repressive complex 2 (PRC2).[12][13] Intracellular mechanisms underlying these interactions remain largely unknown.

In search of developmentally important genes, Jarid2 has previously been identified by gene trap technology as an important factor necessary for organ development.[7][11][14] During mouse organogenesis, Jarid2 is involved in the formation of the neural tube and development of the liver, spleen, thymus and cardiovascular system.[15][16] Continuous Jarid2 expression in the tissues of the heart, highlight its presiding role in the development of both the embryonic and the adult heart.[7] Mutant models of Jarid2 embryos show severe heart malformations, ventricular septal defects, noncompaction of the ventricular wall, and atrial enlargement.[7] Homozygous mutants of Jarid2 are found to die soon after birth.[7] Overexpression of the mouse Jarid2 gene has been reported to repress cardiomyocyte proliferation through it close interaction with retinoblastoma protein (Rb), a master cell cycle regulator.[11][14][17] Retinoblastoma-binding protein-2 and the human SMCX protein share regions of homology between mice and humans.[5]

References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000008083 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000038518 – 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. ^ a b Berge-Lefranc JL, Jay P, Massacrier A, Cau P, Mattei MG, Bauer S, Marsollier C, Berta P, Fontes M (Feb 1997). "Characterization of the human jumonji gene". Hum Mol Genet. 5 (10): 1637–41. doi:10.1093/hmg/5.10.1637. PMID 8894700.
  6. ^ "Entrez Gene: JARID2 jumonji, AT rich interactive domain 2".
  7. ^ a b c d e Kim TG, Kraus JC, Chen J, Lee Y (2004). "Jumonji, a critical factor for cardiac development, functions as a transcriptional repressor". J. Biol. Chem. 278 (43): 42247–55. doi:10.1074/jbc.M307386200. PMID 12890668.
  8. ^ Mysliwiec MR, Kim TG, Lee Y (2007). "Characterization of zinc finger protein 496 that interacts with jumonji/jarid2". FEBS Letters. 581 (14): 2633–40. Bibcode:2007FEBSL.581.2633M. doi:10.1016/j.febslet.2007.05.006. PMC 2002548. PMID 17521633.
  9. ^ Takahashi M, Kojima M, Nakajima K, Suzuki-Migishima R, Motegi Y, Yokoyama M, Takeuchi, T (2004). "Cardiac abnormalities cause early lethality of jumonji mutant mice". Biochemical and Biophysical Research Communications. 324 (4): 1319–23. doi:10.1016/j.bbrc.2004.09.203. PMID 15504358.
  10. ^ Toyoda M, Kojima M, Takeuchi T (2000). "Jumonji is a nuclear protein that participates in the negative regulation of cell growth". Biochemical and Biophysical Research Communications. 274 (2): 332–6. doi:10.1006/bbrc.2000.3138. PMID 10913339.
  11. ^ a b c Klassen SS, Rabkin SW (2008). "Nitric oxide induces gene expression of jumonji and retinoblastoma 2 protein while reducing expression of atrial natriuretic peptide precursor type B in cardiomyocytes". Folia Biologica. 54 (2): 65–70. doi:10.14712/fb2008054020065. PMID 18498724.
  12. ^ Pasini D, Cloos PA, Walfridsson J, Olsson L, Bukowski JP, Johansen JV, Helin K (2010). "JARID2 regulates binding of the polycomb repressive complex 2 to target genes in ES cells". Nature. 464 (7286): 306–10. Bibcode:2010Natur.464..306P. doi:10.1038/nature08788. PMID 20075857. S2CID 205219740.
  13. ^ Son J, Shen SS, Margueron R, Reinberg D (2013). "Nucleosome-binding activities within JARID2 and EZH1 regulate the function of PRC2 on chromatin". Genes & Development. 27 (24): 2663–77. doi:10.1101/gad.225888.113. PMC 3877756. PMID 24352422.
  14. ^ a b Jung J, Mysliwiec MR, Lee Y (2005). "Roles of Jumonji in mouse embryonic development". Developmental Dynamics. 232 (1): 21–32. doi:10.1002/dvdy.20204. PMID 15580614. S2CID 31338749.
  15. ^ Motoyama J, Kitajima K, Kojima M, Kondo S, Takeuchi T (1997). "Organogenesis of the liver, thymus and spleen is affected in jumonji mutant mice". Mechanisms of Development. 66 (1–2): 27–37. doi:10.1016/s0925-4773(97)00082-8. PMID 9376320. S2CID 6531281.
  16. ^ Takeuchi T, Yamazaki Y, Katoh-Fukui Y, Tsuchiya R, Kondo S, Motoyama J, Higashinakagawa T (1995). "Gene trap capture of a novel mouse gene, jumonji, required for neural tube formation". Genes & Development. 9 (10): 1211–22. doi:10.1101/gad.9.10.1211. PMID 7758946.
  17. ^ Mysliwiec MR, Chen J, Powers PA, Bartley CR, Schneider MD, Lee Y (2000). "Generation of a conditional null allele of jumonji". Genesis. 44 (9): 407–11. doi:10.1002/dvg.20221. PMC 2002517. PMID 16900512.

Further reading

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

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