JARID2

Protein-coding gene in the species Homo sapiens
JARID2
Available structures
PDBOrtholog search: PDBe RCSB
List of PDB id codes

5HYN

Identifiers
AliasesJARID2, JMJ, jumonji and AT-rich interaction domain containing 2
External IDsOMIM: 601594 MGI: 104813 HomoloGene: 31279 GeneCards: JARID2
Gene location (Human)
Chromosome 6 (human)
Chr.Chromosome 6 (human)[1]
Chromosome 6 (human)
Genomic location for JARID2
Genomic location for JARID2
Band6p22.3Start15,246,069 bp[1]
End15,522,042 bp[1]
Gene location (Mouse)
Chromosome 13 (mouse)
Chr.Chromosome 13 (mouse)[2]
Chromosome 13 (mouse)
Genomic location for JARID2
Genomic location for JARID2
Band13 A5|13 21.66 cMStart44,882,950 bp[2]
End45,075,119 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • secondary oocyte

  • sperm

  • trabecular bone

  • nipple

  • amniotic fluid

  • Brodmann area 23

  • inferior olivary nucleus

  • bone marrow

  • middle temporal gyrus

  • thymus
Top expressed in
  • internal carotid artery

  • external carotid artery

  • renal corpuscle

  • secondary oocyte

  • medullary collecting duct

  • hair follicle

  • blood

  • conjunctival fornix

  • corneal stroma

  • trigeminal ganglion
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
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

  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. 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. 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

  • 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

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

  • v
  • t
  • e
(1) Basic domains
(1.1) Basic leucine zipper (bZIP)
(1.2) Basic helix-loop-helix (bHLH)
Group A
Group B
Group C
bHLH-PAS
Group D
Group E
Group F
bHLH-COE
(1.3) bHLH-ZIP
(1.4) NF-1
(1.5) RF-X
(1.6) Basic helix-span-helix (bHSH)
(2) Zinc finger DNA-binding domains
(2.1) Nuclear receptor (Cys4)
subfamily 1
subfamily 2
subfamily 3
subfamily 4
subfamily 5
subfamily 6
subfamily 0
(2.2) Other Cys4
(2.3) Cys2His2
(2.4) Cys6
(2.5) Alternating composition
(2.6) WRKY
(3) Helix-turn-helix domains
(3.1) Homeodomain
Antennapedia
ANTP class
protoHOX
Hox-like
metaHOX
NK-like
other
(3.2) Paired box
(3.3) Fork head / winged helix
(3.4) Heat shock factors
(3.5) Tryptophan clusters
(3.6) TEA domain
  • transcriptional enhancer factor
(4) β-Scaffold factors with minor groove contacts
(4.1) Rel homology region
(4.2) STAT
(4.3) p53-like
(4.4) MADS box
(4.6) TATA-binding proteins
(4.7) High-mobility group
(4.9) Grainyhead
(4.10) Cold-shock domain
(4.11) Runt
(0) Other transcription factors
(0.2) HMGI(Y)
(0.3) Pocket domain
(0.5) AP-2/EREBP-related factors
(0.6) Miscellaneous
see also transcription factor/coregulator deficiencies
  • v
  • t
  • e
1.14.11: 2-oxoglutarate
1.14.13: NADH or NADPH
1.14.14: reduced flavin or flavoprotein
1.14.15: reduced iron–sulfur protein
1.14.16: reduced pteridine (BH4 dependent)
1.14.17: reduced ascorbate
1.14.18-19: other
1.14.99 - miscellaneous
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