JARID2

Jumonji, AT rich interactive domain 2
Identifiers
Symbols	JARID2; JMJ
External IDs	OMIM: 601594 MGI: 104813 HomoloGene: 31279 GeneCards: JARID2 Gene
Gene Ontology Molecular function • DNA binding • chromatin binding • histone demethylase activity Cellular component • intracellular • nucleus • histone methyltransferase complex • ESC/E(Z) complex Biological process • negative regulation of transcription from RNA polymerase II promoter • liver development • multicellular organismal development • central nervous system development • negative regulation of cell proliferation • chromatin modification • negative regulation of histone methylation • negative regulation of transcription, DNA-dependent • spleen development • thymus development • stem cell differentiation • positive regulation of histone H3-K9 methylation Sources: Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	3720	16468
Ensembl	ENSG00000008083	ENSMUSG00000038518
UniProt	Q92833	Q62315
RefSeq (mRNA)	NM_004973.2	NM_001205043.1
RefSeq (protein)	NP_004964.2	NP_001191972.1
Location (UCSC)	Chr 6: 15.25 – 15.52 Mb	Chr 13: 44.82 – 45.02 Mb
PubMed search	[1]	[2]

Protein Jumonji is a protein that in humans is encoded by the JARID2 gene.

This gene is an ortholog of the mouse Jarid2 gene, which encodes a nuclear protein essential for mouse embryogenesis, including neural tube formation. Overexpression of the mouse gene negatively regulates cell proliferation. The jumonji proteins contain a DNA-binding domain, called an AT-rich interaction domain (ARID), and share regions of similarity with human retinoblastoma-binding protein-2 and the human SMCX protein.

Model organisms

Jarid2 knockout mouse phenotype

Characteristic	Phenotype
Homozygote viability	Abnormal
Recessive lethal study	Abnormal
Fertility	Normal
Body weight	Normal
Anxiety	Normal
Neurological assessment	Normal
Grip strength	Normal
Hot plate	Normal
Dysmorphology	Normal
Indirect calorimetry	Normal
Glucose tolerance test	Normal
Auditory brainstem response	Normal
DEXA	Normal
Radiography	Normal
Body temperature	Normal
Eye morphology	Normal
Clinical chemistry	Normal
Plasma immunoglobulins	Normal
Haematology	Normal
Peripheral blood lymphocytes	Normal
Micronucleus test	Normal
Heart weight	Normal
Skin Histopathology	Normal
Brain histopathology	Normal
Salmonella infection	Normal
Citrobacter infection	Normal
All tests and analysis from

Model organisms have been used in the study of JARID2 function. A conditional knockout mouse line, called Jarid2^{tm1a(KOMP)Wtsi} 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.

Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion. 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.

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. 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. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=139241. 
• 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. 
• Mungall AJ, Palmer SA, Sims SK, et al. (2003). "The DNA sequence and analysis of human chromosome 6.". Nature 425 (6960): 805–11. 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. 
• 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. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=528928. 
• 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. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=529025. 
• 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. 

External links

• MeSH JARID2+protein,+human

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