JARID2

JARID2
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 5HYN
Identifiers
Aliases	JARID2, JMJ, jumonji and AT-rich interaction domain containing 2
External IDs	OMIM: 601594; MGI: 104813; HomoloGene: 31279; GeneCards: JARID2; OMA:JARID2 - orthologs
Gene location (Human) Chr. Chromosome 6 (human)[1] Band 6p22.3 Start 15,246,069 bp[1] End 15,522,042 bp[1]
Gene location (Mouse) Chr. Chromosome 13 (mouse)[2] Band 13 A5|13 21.66 cM Start 44,882,950 bp[2] End 45,075,119 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in secondary oocyte buccal mucosa cell sperm gingival epithelium trabecular bone nipple amniotic fluid dorsal motor nucleus of vagus nerve tendon of biceps brachii Brodmann area 23 Top expressed in Rostral migratory stream internal carotid artery external carotid artery tail of embryo renal corpuscle secondary oocyte zygote medullary collecting duct gastrula hair follicle More reference expression data BioGPS More reference expression data
Gene ontology Molecular function DNA binding RNA polymerase II transcription regulatory region sequence-specific DNA binding chromatin binding histone demethylase activity DNA-binding transcription repressor activity, RNA polymerase II-specific transcription factor binding protein binding DNA-binding transcription factor activity, RNA polymerase II-specific methylated histone binding histone H3-tri/di/monomethyl-lysine-4 demethylase activity Cellular component ESC/E(Z) complex nucleoplasm nucleus histone methyltransferase complex mitochondrion Biological process cell differentiation negative regulation of histone methylation regulation of transcription, DNA-templated thymus development negative regulation of transcription by RNA polymerase II spleen development transcription, DNA-templated stem cell differentiation multicellular organism development central nervous system development negative regulation of gene expression, epigenetic regulation of cell population proliferation liver development negative regulation of transcription, DNA-templated negative regulation of cell population proliferation positive regulation of histone H3-K9 methylation negative regulation of cardiac muscle hypertrophy cellular response to leukemia inhibitory factor negative regulation of cardiac muscle cell proliferation chromatin organization histone demethylation chromatin remodeling histone H3-K4 demethylation, trimethyl-H3-K4-specific Sources:Amigo / QuickGO
Orthologs Species Human Mouse 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 Mb Chr 13: 44.88 – 45.08 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/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

1. GRCh38: Ensembl release 89: ENSG00000008083 – Ensembl, May 2017
2. 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. 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. 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. 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. 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

• Lee Y, Song AJ, Baker R, et al. (2000). "Jumonji, a nuclear protein that is necessary for normal heart development". Circ. Res. 86 (9): 932–8. doi:10.1161/01.res.86.9.932. PMID 10807864.
• Toyoda M, Kojima M, Takeuchi T (2000). "Jumonji is a nuclear protein that participates in the negative regulation of cell growth". Biochem. Biophys. Res. Commun. 274 (2): 332–6. doi:10.1006/bbrc.2000.3138. PMID 10913339.
• 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. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
• Mungall AJ, Palmer SA, Sims SK, et al. (2003). "The DNA sequence and analysis of human chromosome 6". Nature. 425 (6960): 805–11. Bibcode:2003Natur.425..805M. doi:10.1038/nature02055. PMID 14574404.
• Volcik KA, Zhu H, Finnell RH, et al. (2004). "Evaluation of the jumonji gene and risk for spina bifida and congenital heart defects". Am. J. Med. Genet. A. 126 (2): 215–7. doi:10.1002/ajmg.a.20574. PMID 15057990. S2CID 221248186.
• Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
• Kim TG, Chen J, Sadoshima J, Lee Y (2005). "Jumonji represses atrial natriuretic factor gene expression by inhibiting transcriptional activities of cardiac transcription factors". Mol. Cell. Biol. 24 (23): 10151–60. doi:10.1128/MCB.24.23.10151-10160.2004. PMC 529025. PMID 15542826.
• Pedrosa E, Ye K, Nolan KA, et al. (2007). "Positive association of schizophrenia to JARID2 gene". Am. J. Med. Genet. B Neuropsychiatr. Genet. 144 (1): 45–51. doi:10.1002/ajmg.b.30386. PMID 16967465. S2CID 25560999.

External links

• JARID2+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)

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