Gene Gene information from NCBI Gene database.
Entrez ID 3720
Gene name Jumonji and AT-rich interaction domain containing 2
Gene symbol JARID2
Synonyms (NCBI Gene)
DIDDFJMJ
Chromosome 6
Chromosome location 6p22.3
Summary 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)
miRNA miRNA information provided by mirtarbase database.
767
miRTarBase ID miRNA Experiments Reference
MIRT001075 hsa-miR-155-5p qRT-PCRLuciferase reporter assay 19759154
MIRT001075 hsa-miR-155-5p Luciferase reporter assay 19759154
MIRT005834 hsa-miR-204-5p Microarray 21282569
MIRT001075 hsa-miR-155-5p Luciferase reporter assay 23185331
MIRT001075 hsa-miR-155-5p Luciferase reporter assay 23185331
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
42
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IEA
GO:0000785 Component Chromatin IBA
GO:0001889 Process Liver development IEA
GO:0003677 Function DNA binding IEA
GO:0003682 Function Chromatin binding IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
601594 6196 ENSG00000008083
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q92833
Protein name Protein Jumonji (Jumonji/ARID domain-containing protein 2)
Protein 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 (PubMed:20075857). Acts as an accessory subunit for the c
PDB 4X3E , 5HYN , 5LS6 , 5WAI , 6C23 , 6C24 , 6NQ3 , 6WKR , 7KSO , 8TB9 , 8VMI , 8VML , 8VNV , 8VNZ , 9C8U , 9DCH
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02375 JmjN 558 591 jmjN domain Family
PF01388 ARID 604 709 ARID/BRIGHT DNA binding domain Domain
PF02373 JmjC 916 1031 JmjC domain, hydroxylase Domain
PF02928 zf-C5HC2 1139 1192 C5HC2 zinc finger Domain
Tissue specificity TISSUE SPECIFICITY: During embryogenesis, predominantly expressed in neurons and particularly in dorsal root ganglion cells.
Sequence
MSKERPKRNIIQKKYDDSDGIPWSEERVVRKVLYLSLKEFKNSQKRQHAEGIAGSLKTVN
GLLGNDQSKGLGPASEQSENEKDDASQVSSTSNDVSSSDFEEGPSRKRPRLQAQRKFAQS
QPNSPSTTPVKIVEPLLPPPATQISDLSKRKPKTEDFLTFLCLRGSPALPNSMVYFGSSQ
DEEEVEEEDDETEDVKTATNNASSSCQSTPRKGKTHKHVHNGHVFNGSSRSTREKEPVQK
HKSKEATPAKEKHSDHRADSRREQASANHPAAAPSTGSSAKGLAATHHHPPLHRSAQDLR
KQVSKVNGVTRMSSLGAGVTSAKKMREVRPSPSKTVKYTATVTKGAVTYTKAKRELVKDT
KPNHHKPSSAVNHTISGKTESSNAKTRKQVLSLGGASKSTGPAVNGLKVSGRLNPKSCTK
EVGGRQLREGLQLREGLRNSKRRLEEAHQAEKPQSPPKKMKGAAGPAEGPGKKAPAERGL
LNGHVKKEVPERSLERNRPKRATAGKSTPGRQAHGKADSASCENRSTSQPESVHKPQDSG
KAEKGGGKAGWAAMDEIPVLRPSAKEFHDPLIYIESVRAQVEKFGMCRVIPPPDWRPECK
LNDEMRFVTQIQHIHKLGRRWGPNVQRLACIKKHLKSQGITMDELPLIGGCELDLACFFR
LINEMGGMQQVTDLKKWNKLADMLRIPRTAQDRLAKLQEAYCQYLLSYD
SLSPEEHRRLE
KEVLMEKEILEKRKGPLEGHTENDHHKFHPLPRFEPKNGLIHGVAPRNGFRSKLKEVGQA
QLKTGRRRLFAQEKEVVKEEEEDKGVLNDFHKCIYKGRSVSLTTFYRTARNIMSMCFSKE
PAPAEIEQEYWRLVEEKDCHVAVHCGKVDTNTHGSGFPVGKSEPFSRHGWNLTVLPNNTG
SILRHLGAVPGVTIPWLNIGMVFSTSCWSRDQNHLPYIDYLHTGADCIWYCIPAEEENKL
EDVVHTLLQANGTPGLQMLESNVMISPEVLCKEGIKVHRTVQQSGQFVVCFPGSFVSKVC
CGYSVSETVHF
ATTQWTSMGFETAKEMKRRHIAKPFSMEKLLYQIAQAEAKKENGPTLST
ISALLDELRDTELRQRRQLFEAGLHSSARYGSHDGSSTVADGKKKPRKWLQLETSERRCQ
ICQHLCYLSMVVQENENVVFCLECALRHVEKQKSCRGLKLMYRYDEEQIISL
VNQICGKV
SGKNGSIENCLSKPTPKRGPRKRATVDVPPSRLSASSSSKSASSSS
Sequence length 1246
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Polycomb repressive complex
Signaling pathways regulating pluripotency of stem cells
  PRC2 methylates histones and DNA
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
34
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Autism Likely pathogenic rs2482160222 RCV002468722
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autosomal dominant non-syndromic intellectual disability Likely pathogenic rs2127277880 RCV001825157
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Developmental delay with variable intellectual disability and dysmorphic facies Likely pathogenic; Pathogenic rs2127756207, rs2533091746, rs2533243061 RCV002300589
RCV003152917
RCV004566660
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability Likely pathogenic rs2482160222 RCV002468722
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
APRAXIA OF PHONATION Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISTIC DISORDER Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Alport Syndrome Mental Retardation Midface Hypoplasia and Elliptocytosis Associate 23294540
★☆☆☆☆
Found in Text Mining only
Autistic Disorder Associate 35887345, 37762546
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cleft Palate Associate 31262291
★☆☆☆☆
Found in Text Mining only
Cognition Disorders Associate 23294540, 35887345, 37762546
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Associate 25542019
★☆☆☆☆
Found in Text Mining only
Congenital Abnormalities Associate 23294540, 37762546
★☆☆☆☆
Found in Text Mining only
Developmental Disabilities Associate 33077894, 35887345, 37762546
★☆☆☆☆
Found in Text Mining only
Endometriosis Associate 33800594
★☆☆☆☆
Found in Text Mining only
Gait Disorders Neurologic Associate 23294540
★☆☆☆☆
Found in Text Mining only
Glioma Associate 34251962
★★☆☆☆
Found in Text Mining + Unknown/Other Associations