• Gene id: 3720

Gene Summary

• Gene Symbol: JARID2   Gene   UCSC   Ensembl
• Aliases: JMJ
• Gene name: jumonji and AT-rich interaction domain containing 2
• Alternate names: protein Jumonji, jumonji homolog, jumonji, AT rich interactive domain 2, jumonji-like protein, jumonji/ARID domain-containing protein 2,
• Gene location: 6p22.3 (15245974: 15522041)     Exons: 23     NC_000006.12
• Gene summary(Entrez): This gene encodes a Jumonji- and AT-rich interaction domain (ARID)-domain-containing protein. The encoded protein is a DNA-binding protein that functions as a transcriptional repressor. This protein interacts with the Polycomb repressive complex 2 (PRC2)
• OMIM: 601594

Protein Summary

• Protein general information: Q92833  
  • Name: Protein Jumonji (Jumonji/ARID domain containing protein 2)
  • Length: 1246  
  • Mass: 138734
  • Tissue specificity: During embryogenesis, predominantly expressed in neurons and particularly in dorsal root ganglion cells.
• Sequence:

  MSKERPKRNIIQKKYDDSDGIPWSEERVVRKVLYLSLKEFKNSQKRQHAEGIAGSLKTVNGLLGNDQSKGLGPAS
  EQSENEKDDASQVSSTSNDVSSSDFEEGPSRKRPRLQAQRKFAQSQPNSPSTTPVKIVEPLLPPPATQISDLSKR
  KPKTEDFLTFLCLRGSPALPNSMVYFGSSQDEEEVEEEDDETEDVKTATNNASSSCQSTPRKGKTHKHVHNGHVF
  NGSSRSTREKEPVQKHKSKEATPAKEKHSDHRADSRREQASANHPAAAPSTGSSAKGLAATHHHPPLHRSAQDLR
  KQVSKVNGVTRMSSLGAGVTSAKKMREVRPSPSKTVKYTATVTKGAVTYTKAKRELVKDTKPNHHKPSSAVNHTI
  SGKTESSNAKTRKQVLSLGGASKSTGPAVNGLKVSGRLNPKSCTKEVGGRQLREGLQLREGLRNSKRRLEEAHQA
  EKPQSPPKKMKGAAGPAEGPGKKAPAERGLLNGHVKKEVPERSLERNRPKRATAGKSTPGRQAHGKADSASCENR
  STSQPESVHKPQDSGKAEKGGGKAGWAAMDEIPVLRPSAKEFHDPLIYIESVRAQVEKFGMCRVIPPPDWRPECK
  LNDEMRFVTQIQHIHKLGRRWGPNVQRLACIKKHLKSQGITMDELPLIGGCELDLACFFRLINEMGGMQQVTDLK
  KWNKLADMLRIPRTAQDRLAKLQEAYCQYLLSYDSLSPEEHRRLEKEVLMEKEILEKRKGPLEGHTENDHHKFHP
  LPRFEPKNGLIHGVAPRNGFRSKLKEVGQAQLKTGRRRLFAQEKEVVKEEEEDKGVLNDFHKCIYKGRSVSLTTF
  YRTARNIMSMCFSKEPAPAEIEQEYWRLVEEKDCHVAVHCGKVDTNTHGSGFPVGKSEPFSRHGWNLTVLPNNTG
  SILRHLGAVPGVTIPWLNIGMVFSTSCWSRDQNHLPYIDYLHTGADCIWYCIPAEEENKLEDVVHTLLQANGTPG
  LQMLESNVMISPEVLCKEGIKVHRTVQQSGQFVVCFPGSFVSKVCCGYSVSETVHFATTQWTSMGFETAKEMKRR
  HIAKPFSMEKLLYQIAQAEAKKENGPTLSTISALLDELRDTELRQRRQLFEAGLHSSARYGSHDGSSTVADGKKK
  PRKWLQLETSERRCQICQHLCYLSMVVQENENVVFCLECALRHVEKQKSCRGLKLMYRYDEEQIISLVNQICGKV
  SGKNGSIENCLSKPTPKRGPRKRATVDVPPSRLSASSSSKSASSSS

• Structural information:
  • Protein Domains: (557..59-)
    (/note="JmjN-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00537-)
    (621..71-)
    (/note="ARID-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00355-)
    (884..104-)
    (/note="JmjC-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00538"-)
  • Interpro: IPR001606  IPR036431  IPR003347  IPR003349  IPR004198  
  • Prosite: PS51011 PS51184 PS51183
  • PDB: 5HYN 5LS6 6C23 6C24
  • PDBsum: 5HYN 5LS6 6C23 6C24
  • DIP: 45494
  • STRING: ENSP00000341280
• Other Databases: GeneCards:  JARID2  Malacards:  JARID2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0035097	histone methyltransferase complex	IBA	cellular component
GO:0034647	histone demethylase activity (H3-trimethyl-K4 specific)	IBA	NOT|molecular function
GO:0032452	histone demethylase activity	IBA	molecular function
GO:0006338	chromatin remodeling	IBA	biological process
GO:0005634	nucleus	IBA	cellular component
GO:0035098	ESC/E(Z) complex	IDA	colocalizes with
GO:0005634	nucleus	IDA	cellular component
GO:0048863	stem cell differentiation	ISS	biological process
GO:0045892	negative regulation of transcription, DNA-templated	ISS	biological process
GO:0035097	histone methyltransferase complex	ISS	cellular component
GO:0031061	negative regulation of histone methylation	ISS	biological process
GO:0003682	chromatin binding	ISS	molecular function
GO:0051574	positive regulation of histone H3-K9 methylation	ISS	biological process
GO:0032452	histone demethylase activity	ISS	NOT|molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0030154	cell differentiation	IEA	biological process
GO:0006325	chromatin organization	IEA	biological process
GO:0007275	multicellular organism development	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0007417	central nervous system development	TAS	biological process
GO:0045814	negative regulation of gene expression, epigenetic	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0060044	negative regulation of cardiac muscle cell proliferation	IEA	biological process
GO:0003682	chromatin binding	IEA	molecular function
GO:0008285	negative regulation of cell population proliferation	IEA	biological process
GO:0031061	negative regulation of histone methylation	IEA	biological process
GO:0035097	histone methyltransferase complex	IEA	cellular component
GO:0035098	ESC/E(Z) complex	IEA	cellular component
GO:0042127	regulation of cell population proliferation	IEA	biological process
GO:0045892	negative regulation of transcription, DNA-templated	IEA	biological process
GO:0048538	thymus development	IEA	biological process
GO:0048863	stem cell differentiation	IEA	biological process
GO:0010614	negative regulation of cardiac muscle hypertrophy	IEA	biological process
GO:0000122	negative regulation of transcription by RNA polymerase II	IEA	biological process
GO:0000977	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IEA	molecular function
GO:0001227	DNA-binding transcription repressor activity, RNA polymerase II-specific	IEA	molecular function
GO:0001889	liver development	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0008134	transcription factor binding	IEA	molecular function
GO:0048536	spleen development	IEA	biological process
GO:0051574	positive regulation of histone H3-K9 methylation	IEA	biological process
GO:1990830	cellular response to leukemia inhibitory factor	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0034721	histone H3-K4 demethylation, trimethyl-H3-K4-specific	IEA	biological process
GO:0016577	histone demethylation	IEA	biological process
GO:0016577	histone demethylation	IEA	biological process

KEGG pathways

Pathway id	Pathway name
hsa04550	Signaling pathways regulating pluripotency of stem cells

Diseases

Associated diseases	References
autistic disorder	PMID:22681640
Aortic valve stenosis	PMID:18805276
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray