JADE2 (jade family PHD finger 2)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 23338
Gene name Jade family PHD finger 2
Gene symbol JADE2
Synonyms (NCBI Gene)
JADE-2PHF15
Chromosome 5
Chromosome location 5q31.1
miRNA miRNA information provided by mirtarbase database.
59
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (59)
miRTarBase ID miRNA Experiments Reference
MIRT441674 hsa-miR-4761-3p PAR-CLIP 23708386
MIRT441673 hsa-miR-663b PAR-CLIP 23708386
MIRT441672 hsa-miR-4435 PAR-CLIP 23708386
MIRT441671 hsa-miR-7108-5p PAR-CLIP 23708386
MIRT487361 hsa-miR-3714 PAR-CLIP 23592263
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
26
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (26)
GO ID Ontology Definition Evidence Reference
GO:0000123 Component Histone acetyltransferase complex IBA
GO:0000123 Component Histone acetyltransferase complex IDA 16387653
GO:0000123 Component Histone acetyltransferase complex IEA
GO:0001558 Process Regulation of cell growth ISS
GO:0005515 Function Protein binding IPI 20211142, 24981860, 25416956, 32814053, 33961781
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
610515 22984 ENSG00000043143
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9NQC1
Protein name E3 ubiquitin-protein ligase Jade-2 (EC 2.3.2.27) (Jade family PHD finger protein 2) (PHD finger protein 15)
Protein function Scaffold subunit of some HBO1 complexes, which have a histone H4 acetyltransferase activity (PubMed:16387653). Acts as an E3 ubiquitin-protein ligase mediating the ubiquitination and subsequent proteasomal degradation of target protein histone d
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF10513 EPL1 1 → 176 Enhancer of polycomb-like Family
PF13831 PHD_2 213 → 247 Family
PF13832 zf-HC5HC2H_2 252 → 364 Domain
Sequence 
MEEKRRKYSISSDNSDTTDSHATSTSASRCSKLPSSTKSGWPRQNEKKPSEVFRTDLITA
MKIPDSYQLSPDDYYILADPWRQEWEKGVQVPAGAEAIPEPVVRILPPLEGPPAQASPSS
TMLGEGSQPDWPGGSRYDLDEIDAYWLELINSELKEMERPELDELTLERVLEELETLCHQ
NMARAIETQEGLGIEYDEDVVCDVCRSPEGEDGNEMVFCDKCNVCVHQACYGILKVPTGS
WLCRTCALGVQPKCLLCPKRGGALKPTRSGTKWVHVSCALWIPEVSIGCPEKMEPITKIS
HIPASRWALSCSLCKECTGTCIQCSMPSCVTAFHVTCAFDHGLEMRTILADNDEVKFKSF
CQEHSDGGPRNEPTSEPTEPSQAGEDLEKVTLRKQRLQQLEEDFYELVEPAEVAERLDLA
EALVDFIYQYWKLKRKANANQPLLTPKTDEVDNLAQQEQDVLYRRLKLFTHLRQDLERVR
NLCYMVTRRERTKHAICKLQEQIFHLQMKLIEQDLCRGLSTSFPIDGTFFNSWLAQSVQI
TAENMAMSEWPLNNGHREDPAPGLLSEELLQDEETLLSFMRDPSLRPGDPARKARGRTRL
PAKKKPPPPPPQDGPGSRTTPDKAPKKTWGQDAGSGKGGQGPPTRKPPRRTSSHLPSSPA
AGDCPILATPESPPPLAPETPDEAASVAADSDVQVPGPAASPKPLGRLRPPRESKVTRRL
PGARPDAGMGPPSAVAERPKVSLHFDTETDGYFSDGEMSDSDVEAEDGGVQRGPREAGAE
EVVRMGVLAS
Sequence length 790
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    HATs acetylate histones
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
1
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (1)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
JADE2-associated Neurodevelopmental Disorder Uncertain significance rs2150026051 RCV002266723
Show/Hide Text Mining Associations (4)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Brain Neoplasms Associate 34008756
Leukemia Myeloid Acute Associate 34673934
Leukemia Promyelocytic Acute Associate 34673934
Neoplasms Associate 34008756