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
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 44,729,474 bp[2] End 44,921,643 bp[2]
RNA expression pattern 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 • GO:0001078, GO:0001214, GO:0001206 DNA-binding transcription repressor activity, RNA polymerase II-specific • transcription factor binding • GO:0001948 protein binding • GO:0001200, GO:0001133, GO:0001201 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: 44.73 – 44.92 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]

Model organisms[]

Model organisms have been used in the study of JARID2 function. A conditional knockout mouse line, called Jarid2^{tm1a(KOMP)Wtsi[22][23]} 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.^[24][25][26]

Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion.^[20][27] 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.^[20]

References[]

Further reading[]

External links[]

• JARID2+protein,+human at the US 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.