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Aliases for JARID2 Gene

Aliases for JARID2 Gene

  • Jumonji And AT-Rich Interaction Domain Containing 2 2 3 5
  • Jumonji/ARID Domain-Containing Protein 2 3 4
  • Jumonji, AT Rich Interactive Domain 2 2 3
  • JMJ 3 4
  • Jumonji (Mouse) Homolog 2
  • Jumonji-Like Protein 3
  • Jumonji Homolog 3
  • Protein Jumonji 3

External Ids for JARID2 Gene

Previous HGNC Symbols for JARID2 Gene

  • JMJ

Previous GeneCards Identifiers for JARID2 Gene

  • GC06P015354

Summaries for JARID2 Gene

Entrez Gene Summary for JARID2 Gene

  • 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) which plays an essential role in regulating gene expression during embryonic development. This protein facilitates the recruitment of the PRC2 complex to target genes. Alternate splicing results in multiple transcript variants. Mutations in this gene are associated with chronic myeloid malignancies. [provided by RefSeq, May 2012]

GeneCards Summary for JARID2 Gene

JARID2 (Jumonji And AT-Rich Interaction Domain Containing 2) is a Protein Coding gene. Diseases associated with JARID2 include Reticuloendotheliosis and Spina Bifida Occulta. Among its related pathways are Mesodermal Commitment Pathway and Gene Expression. GO annotations related to this gene include chromatin binding and histone demethylase activity. An important paralog of this gene is KDM5B.

UniProtKB/Swiss-Prot for JARID2 Gene

  • Regulator of histone methyltransferase complexes that plays an essential role in embryonic development, including heart and liver development, neural tube fusion process and hematopoiesis. Acts by modulating histone methyltransferase activity and promoting the recruitment of histone methyltransferase complexes to their target genes. Binds DNA and mediates the recruitment of the PRC2 complex to target genes in embryonic stem cells. Does not have histone demethylase activity but regulates activity of various histone methyltransferase complexes. In embryonic stem cells, it associates with the PRC2 complex and inhibits trimethylation of Lys-27 of histone H3 (H3K27me3) by the PRC2 complex, thereby playing a key role in differentiation of embryonic stem cells and normal development. In cardiac cells, it is required to repress expression of cyclin-D1 (CCND1) by activating methylation of Lys-9 of histone H3 (H3K9me) by the GLP1/EHMT1 and G9a/EHMT2 histone methyltransferases. Also acts as a transcriptional repressor of ANF via its interaction with GATA4 and NKX2-5. Participates in the negative regulation of cell proliferation signaling.

Gene Wiki entry for JARID2 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for JARID2 Gene

Genomics for JARID2 Gene

Regulatory Elements for JARID2 Gene

Enhancers for JARID2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH06G015621 1.7 FANTOM5 Ensembl ENCODE 19.4 +376.0 375980 1.8 HDGF PKNOX1 ATF1 ARNT TCF12 ZNF766 ELK1 GATA2 CBX5 ZNF143 JARID2 JARID2-AS1 DTNBP1 LOC105374947
GH06G015263 2.6 Ensembl ENCODE dbSUPER 11.8 +21.1 21074 6.4 HDGF FOXA2 PKNOX1 CREB3L1 ARNT WRNIP1 ARID4B FEZF1 ZNF766 ZNF263 RNU6-645P JARID2 RNU6-522P ENSG00000271888 DTNBP1 GC06P015264 PIR40137
GH06G015016 1.5 FANTOM5 Ensembl ENCODE 19.7 -228.5 -228451 1.1 HDAC1 ATF1 CBX3 CREB3L1 ARNT NFRKB E2F7 CHAMP1 ZNF766 EGR1 JARID2 JARID2-AS1 LOC105374945 GC06M015081
GH06G015426 1.6 Ensembl ENCODE dbSUPER 16.4 +185.5 185479 9.0 FOXA2 PKNOX1 ARID4B FEZF1 ZNF2 ZNF143 FOS ZNF263 TBX21 MEF2D JARID2 RNU6-522P RNU6-645P JARID2-AS1 DTNBP1 ENSG00000277411 GC06M015325
GH06G014856 1.5 FANTOM5 Ensembl ENCODE dbSUPER 16.6 -388.4 -388403 1.5 ZFHX2 IKZF1 ZBTB33 TBX21 CREM SPI1 EGR2 JARID2 GC06P014854 LOC105374944
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around JARID2 on UCSC Golden Path with GeneCards custom track

Promoters for JARID2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000193739 825 4801 CREB3L1 DMAP1 FEZF1 YY1 ZNF143 ZNF263 SP3 NFYC SSRP1 ZNF610

Genomic Location for JARID2 Gene

Chromosome:
6
Start:
15,245,975 bp from pter
End:
15,522,042 bp from pter
Size:
276,068 bases
Orientation:
Plus strand

Genomic View for JARID2 Gene

Genes around JARID2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
JARID2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for JARID2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for JARID2 Gene

Proteins for JARID2 Gene

  • Protein details for JARID2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q92833-JARD2_HUMAN
    Recommended name:
    Protein Jumonji
    Protein Accession:
    Q92833
    Secondary Accessions:
    • A8K9Z6
    • B7Z5S5
    • B7Z8L0
    • Q5U5L5
    • Q86X63

    Protein attributes for JARID2 Gene

    Size:
    1246 amino acids
    Molecular mass:
    138734 Da
    Quaternary structure:
    • Associates with a histone methyltransferase complex containing GLP1/EHMT1 and G9a/EHMT2. Interacts with SUZ12; the interaction is direct. Interacts with GATA4 (via the N-terminal region). Interacts with NKX2-5 (via the C-terminal region). Interacts with RB1. Interacts with ZNF496 (By similarity). Associates with the PRC2 complex, which includes EED, EZH1, EZH2, SUZ12, RBBP4 and AEBP2; JARID2 is probably not a core component of the PRC2 complex and associates to PRC2 via its interaction with SUZ12.
    SequenceCaution:
    • Sequence=AAC50822.1; Type=Frameshift; Positions=1233; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for JARID2 Gene

    Alternative splice isoforms for JARID2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for JARID2 Gene

Post-translational modifications for JARID2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for JARID2 Gene

Domains & Families for JARID2 Gene

Gene Families for JARID2 Gene

Graphical View of Domain Structure for InterPro Entry

Q92833

UniProtKB/Swiss-Prot:

JARD2_HUMAN :
  • The ARID domain is required to target the PRC2 complex to its target genes.
Domain:
  • The ARID domain is required to target the PRC2 complex to its target genes.
  • The GSGFP motif is required for the interaction with SUZ12.
genes like me logo Genes that share domains with JARID2: view

Function for JARID2 Gene

Molecular function for JARID2 Gene

UniProtKB/Swiss-Prot Function:
Regulator of histone methyltransferase complexes that plays an essential role in embryonic development, including heart and liver development, neural tube fusion process and hematopoiesis. Acts by modulating histone methyltransferase activity and promoting the recruitment of histone methyltransferase complexes to their target genes. Binds DNA and mediates the recruitment of the PRC2 complex to target genes in embryonic stem cells. Does not have histone demethylase activity but regulates activity of various histone methyltransferase complexes. In embryonic stem cells, it associates with the PRC2 complex and inhibits trimethylation of Lys-27 of histone H3 (H3K27me3) by the PRC2 complex, thereby playing a key role in differentiation of embryonic stem cells and normal development. In cardiac cells, it is required to repress expression of cyclin-D1 (CCND1) by activating methylation of Lys-9 of histone H3 (H3K9me) by the GLP1/EHMT1 and G9a/EHMT2 histone methyltransferases. Also acts as a transcriptional repressor of ANF via its interaction with GATA4 and NKX2-5. Participates in the negative regulation of cell proliferation signaling.

Gene Ontology (GO) - Molecular Function for JARID2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding IEA --
GO:0001227 transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding IEA --
GO:0003677 DNA binding IEA --
GO:0003682 chromatin binding ISS --
GO:0008134 transcription factor binding IEA --
genes like me logo Genes that share ontologies with JARID2: view
genes like me logo Genes that share phenotypes with JARID2: view

Animal Models for JARID2 Gene

MGI Knock Outs for JARID2:

Animal Model Products

CRISPR Products

miRNA for JARID2 Gene

miRTarBase miRNAs that target JARID2

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for JARID2 Gene

Localization for JARID2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for JARID2 Gene

Nucleus. Note=Colocalizes with the PRC2 complex on chromatin.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for JARID2 gene
Compartment Confidence
nucleus 5
mitochondrion 4
cytosol 1

Gene Ontology (GO) - Cellular Components for JARID2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IDA 20075857
GO:0005654 nucleoplasm TAS --
GO:0005739 mitochondrion IDA --
GO:0035097 histone methyltransferase complex ISS --
GO:0035098 colocalizes_with ESC/E(Z) complex IDA 20075857
genes like me logo Genes that share ontologies with JARID2: view

Pathways & Interactions for JARID2 Gene

genes like me logo Genes that share pathways with JARID2: view

Pathways by source for JARID2 Gene

Gene Ontology (GO) - Biological Process for JARID2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter IEA --
GO:0001889 liver development IEA --
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0007275 multicellular organism development IEA --
genes like me logo Genes that share ontologies with JARID2: view

No data available for SIGNOR curated interactions for JARID2 Gene

Drugs & Compounds for JARID2 Gene

No Compound Related Data Available

Transcripts for JARID2 Gene

Unigene Clusters for JARID2 Gene

Jumonji, AT rich interactive domain 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for JARID2 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b · 14c ^ 15 ^ 16 ^ 17a · 17b ^ 18 ^ 19
SP1: - - - - -
SP2:
SP3: -
SP4:

Relevant External Links for JARID2 Gene

GeneLoc Exon Structure for
JARID2
ECgene alternative splicing isoforms for
JARID2

Expression for JARID2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for JARID2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for JARID2 Gene

This gene is overexpressed in Colon muscle (63.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for JARID2 Gene



NURSA nuclear receptor signaling pathways regulating expression of JARID2 Gene:

JARID2

SOURCE GeneReport for Unigene cluster for JARID2 Gene:

Hs.269059

mRNA Expression by UniProt/SwissProt for JARID2 Gene:

Q92833-JARD2_HUMAN
Tissue specificity: During embryogenesis, predominantly expressed in neurons and particularly in dorsal root ganglion cells.

Evidence on tissue expression from TISSUES for JARID2 Gene

  • Nervous system(2.7)
genes like me logo Genes that share expression patterns with JARID2: view

Primer Products

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for JARID2 Gene

Orthologs for JARID2 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for JARID2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia JARID2 34 35
  • 99.46 (n)
dog
(Canis familiaris)
Mammalia JARID2 34 35
  • 92.67 (n)
cow
(Bos Taurus)
Mammalia JARID2 34 35
  • 91 (n)
mouse
(Mus musculus)
Mammalia Jarid2 34 16 35
  • 90.36 (n)
rat
(Rattus norvegicus)
Mammalia Jarid2 34
  • 90.11 (n)
oppossum
(Monodelphis domestica)
Mammalia JARID2 35
  • 89 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia JARID2 35
  • 75 (a)
OneToOne
chicken
(Gallus gallus)
Aves JARID2 34 35
  • 82.96 (n)
lizard
(Anolis carolinensis)
Reptilia JARID2 35
  • 83 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia jarid2 34
  • 76.21 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.7923 34
zebrafish
(Danio rerio)
Actinopterygii jarid2b 34 35
  • 67.6 (n)
jarid2a 35
  • 56 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Jarid2 35
  • 17 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea rbr-2 35
  • 10 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes JHD2 35
  • 17 (a)
OneToMany
Species where no ortholog for JARID2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for JARID2 Gene

ENSEMBL:
Gene Tree for JARID2 (if available)
TreeFam:
Gene Tree for JARID2 (if available)

Paralogs for JARID2 Gene

Paralogs for JARID2 Gene

(2) SIMAP similar genes for JARID2 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with JARID2: view

Variants for JARID2 Gene

Sequence variations from dbSNP and Humsavar for JARID2 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
rs1000020201 -- 15,487,745(+) TTTGC(A/C/G)TTCAT intron-variant
rs1000033023 -- 15,510,310(+) AGCCA(C/T)CCCTG intron-variant
rs1000035038 -- 15,366,613(+) CTTCC(C/T)GCCTG intron-variant
rs1000063639 -- 15,348,721(+) GCCCA(C/G)AGTCA intron-variant
rs1000063878 -- 15,372,248(+) ATAAA(C/G)CAGTA intron-variant, upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for JARID2 Gene

Variant ID Type Subtype PubMed ID
esv2034818 CNV deletion 18987734
esv2672598 CNV deletion 23128226
esv2677006 CNV deletion 23128226
esv2731614 CNV deletion 23290073
esv27933 CNV loss 19812545
esv3402665 CNV duplication 20981092
esv3430547 CNV duplication 20981092
esv3608169 CNV loss 21293372
esv3608170 CNV loss 21293372
esv3608171 CNV loss 21293372
esv3608172 CNV loss 21293372
esv3608173 CNV gain 21293372
esv3608174 CNV loss 21293372
nsv1144133 CNV deletion 24896259
nsv472668 CNV novel sequence insertion 20440878
nsv478082 CNV novel sequence insertion 20440878
nsv509120 CNV insertion 20534489
nsv522265 CNV loss 19592680
nsv601006 CNV loss 21841781
nsv830594 CNV loss 17160897
nsv950773 CNV deletion 24416366

Variation tolerance for JARID2 Gene

Residual Variation Intolerance Score: 1.18% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.49; 55.20% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for JARID2 Gene

Human Gene Mutation Database (HGMD)
JARID2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
JARID2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for JARID2 Gene

Disorders for JARID2 Gene

MalaCards: The human disease database

(3) MalaCards diseases for JARID2 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
reticuloendotheliosis
  • reticuloendotheliosis, x-linked
spina bifida occulta
  • closed spina bifida
tetralogy of fallot
  • tetrology of fallot
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for JARID2

Genetic Association Database (GAD)
JARID2
Human Genome Epidemiology (HuGE) Navigator
JARID2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
JARID2
genes like me logo Genes that share disorders with JARID2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for JARID2 Gene

Publications for JARID2 Gene

  1. Characterization of the human jumonji gene. (PMID: 8894700) Berge-Lefranc J.-L. … Fontes M. (Hum. Mol. Genet. 1996) 2 3 4 64
  2. JARID2 regulates binding of the Polycomb repressive complex 2 to target genes in ES cells. (PMID: 20075857) Pasini D. … Helin K. (Nature 2010) 3 4 64
  3. A jumonji (Jarid2) protein complex represses cyclin D1 expression by methylation of histone H3-K9. (PMID: 19010785) Shirato H. … Takeuchi T. (J. Biol. Chem. 2009) 3 22 64
  4. Genome-wide association analysis of susceptibility and clinical phenotype in multiple sclerosis. (PMID: 19010793) Baranzini S.E. … Oksenberg J.R. (Hum. Mol. Genet. 2009) 3 46 64
  5. Whole genome association study in a homogenous population in Shandong peninsula of China reveals JARID2 as a susceptibility gene for schizophrenia. (PMID: 19884986) Liu Y. … Owen M.J. (J. Biomed. Biotechnol. 2009) 3 46 64

Products for JARID2 Gene

Sources for JARID2 Gene

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