Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
3720
Gene name Gene Name - the full gene name approved by the HGNC.
Jumonji and AT-rich interaction domain containing 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
JARID2
Synonyms (NCBI Gene) Gene synonyms aliases
DIDDF, JMJ
Chromosome Chromosome number
6
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
6p22.3
Summary Summary of gene provided in NCBI Entrez 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)
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT001075 hsa-miR-155-5p qRT-PCR, Luciferase 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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
601594 6196 ENSG00000008083
Protein
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Carcinoma Basal cell carcinoma N/A N/A GWAS
Cervical Cancer Cervical cancer N/A N/A GWAS
Dementia Dementia N/A N/A GWAS
Diabetes Type 2 diabetes N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Alport Syndrome Mental Retardation Midface Hypoplasia and Elliptocytosis Associate 23294540
Autistic Disorder Associate 35887345, 37762546
Cleft Palate Associate 31262291
Cognition Disorders Associate 23294540, 35887345, 37762546
Colorectal Neoplasms Associate 25542019
Congenital Abnormalities Associate 23294540, 37762546
Developmental Disabilities Associate 33077894, 35887345, 37762546
Endometriosis Associate 33800594
Gait Disorders Neurologic Associate 23294540
Glioma Associate 34251962