JADE2 (jade family PHD finger 2)

Download as csv Download as pdf

Log in to bookmark this gene

Bookmark This Gene

Title Project / Tag (optional) Note (optional)

Cancel Save

On this page

Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases Related genes Diseases linked via similar genes

Gene

• Entrez ID: 23338
• Gene name: Jade family PHD finger 2
• Gene symbol: JADE2
• Synonyms (NCBI Gene): JADE-2, PHF15
• Chromosome: 5
• Chromosome location: 5q31.1

miRNA 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
MIRT487360	hsa-miR-6808-5p	PAR-CLIP	23592263
MIRT487359	hsa-miR-6893-5p	PAR-CLIP	23592263
MIRT487358	hsa-miR-940	PAR-CLIP	23592263
MIRT487357	hsa-miR-1286	PAR-CLIP	23592263
MIRT487356	hsa-miR-1207-5p	PAR-CLIP	23592263
MIRT487355	hsa-miR-4763-3p	PAR-CLIP	23592263
MIRT487354	hsa-miR-4736	PAR-CLIP	23592263
MIRT487353	hsa-miR-1908-5p	PAR-CLIP	23592263
MIRT487351	hsa-miR-663a	PAR-CLIP	23592263
MIRT487352	hsa-miR-6787-5p	PAR-CLIP	23592263
MIRT487350	hsa-miR-4525	PAR-CLIP	23592263
MIRT487349	hsa-miR-5010-5p	PAR-CLIP	23592263
MIRT487348	hsa-miR-6795-5p	PAR-CLIP	23592263
MIRT487347	hsa-miR-6887-5p	PAR-CLIP	23592263
MIRT487346	hsa-miR-7150	PAR-CLIP	23592263
MIRT487345	hsa-miR-4655-5p	PAR-CLIP	23592263
MIRT441674	hsa-miR-4761-3p	PAR-CLIP	22100165
MIRT441673	hsa-miR-663b	PAR-CLIP	22100165
MIRT441672	hsa-miR-4435	PAR-CLIP	22100165
MIRT441671	hsa-miR-7108-5p	PAR-CLIP	22100165
MIRT441674	hsa-miR-4761-3p	PAR-CLIP	22100165
MIRT441673	hsa-miR-663b	PAR-CLIP	22100165
MIRT441672	hsa-miR-4435	PAR-CLIP	22100165
MIRT441671	hsa-miR-7108-5p	PAR-CLIP	22100165
MIRT755003	hsa-miR-3714	PAR-CLIP	26701625
MIRT754827	hsa-miR-4761-3p	PAR-CLIP	23708386
MIRT754828	hsa-miR-663b	PAR-CLIP	23708386
MIRT754829	hsa-miR-4435	PAR-CLIP	23708386
MIRT754830	hsa-miR-7108-5p	PAR-CLIP	23708386
MIRT755003	hsa-miR-3714	PAR-CLIP	23592263
MIRT755004	hsa-miR-6808-5p	PAR-CLIP	23592263
MIRT755005	hsa-miR-6893-5p	PAR-CLIP	23592263
MIRT755006	hsa-miR-940	PAR-CLIP	23592263
MIRT755007	hsa-miR-1286	PAR-CLIP	23592263
MIRT755008	hsa-miR-1207-5p	PAR-CLIP	23592263
MIRT755009	hsa-miR-4763-3p	PAR-CLIP	23592263
MIRT755010	hsa-miR-4736	PAR-CLIP	23592263
MIRT755011	hsa-miR-1908-5p	PAR-CLIP	23592263
MIRT755012	hsa-miR-663a	PAR-CLIP	23592263
MIRT755013	hsa-miR-6787-5p	PAR-CLIP	23592263
MIRT755014	hsa-miR-4525	PAR-CLIP	23592263
MIRT755015	hsa-miR-5010-5p	PAR-CLIP	23592263
MIRT755016	hsa-miR-6795-5p	PAR-CLIP	23592263
MIRT755017	hsa-miR-6887-5p	PAR-CLIP	23592263
MIRT755018	hsa-miR-7150	PAR-CLIP	23592263
MIRT755019	hsa-miR-4655-5p	PAR-CLIP	23592263
MIRT754827	hsa-miR-4761-3p	PAR-CLIP	22100165
MIRT754828	hsa-miR-663b	PAR-CLIP	22100165
MIRT754829	hsa-miR-4435	PAR-CLIP	22100165
MIRT754830	hsa-miR-7108-5p	PAR-CLIP	22100165
MIRT754827	hsa-miR-4761-3p	PAR-CLIP	22100165
MIRT754828	hsa-miR-663b	PAR-CLIP	22100165
MIRT754829	hsa-miR-4435	PAR-CLIP	22100165
MIRT754830	hsa-miR-7108-5p	PAR-CLIP	22100165

Gene ontology (GO) 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
GO:0005654	Component	Nucleoplasm	IDA	16387653
GO:0006275	Process	Regulation of DNA replication	IDA	16387653
GO:0006275	Process	Regulation of DNA replication	IEA
GO:0006338	Process	Chromatin remodeling	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	ISS
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0008270	Function	Zinc ion binding	IEA
GO:0016567	Process	Protein ubiquitination	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0036408	Function	Histone H3K14 acetyltransferase activity	IDA	16387653
GO:0043995	Function	Histone H4K5 acetyltransferase activity	IDA	16387653
GO:0043996	Function	Histone H4K8 acetyltransferase activity	IDA	16387653
GO:0043997	Function	Histone H4K12 acetyltransferase activity	IDA	16387653
GO:0046872	Function	Metal ion binding	IEA
GO:0046972	Function	Histone H4K16 acetyltransferase activity	IDA	16387653
GO:0051726	Process	Regulation of cell cycle	IDA	16387653
GO:0051726	Process	Regulation of cell cycle	IEA
GO:0061630	Function	Ubiquitin protein ligase activity	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867
GO:2000278	Process	Regulation of DNA biosynthetic process	IDA	16387653
GO:2000278	Process	Regulation of DNA biosynthetic process	IEA

Other IDs

• MIM: 610515
• HGNC: 22984
• e!Ensembl: ENSG00000043143

Protein

• UniProt ID: 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

Pathways

Reactome Pathway:

HATs acetylate histones

Associated diseases

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)

Unknown / Other Associations Show/Hide Unknown Diseases (18)
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	34446935	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	GWAS catalog	31043756, 32606422	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CENTRAL NERVOUS SYSTEM CANCER	—	GWAS catalog	36810956	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, NON-INSULIN-DEPENDENT	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, TYPE 2	—	CTD	28869590	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIOSIS	—	GWAS catalog	36914876	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOBLASTOMA MULTIFORME	—	GWAS catalog	36810956	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOMA	—	GWAS catalog	36810956	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	GWAS catalog	38965376	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
JADE2-associated Neurodevelopmental Disorder	Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG ADENOCARCINOMA	—	GWAS catalog	39366959	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG CANCER	—	GWAS catalog	39366959	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG CARCINOMA	—	GWAS catalog	39366959	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE SCLEROSIS	—	GWAS catalog	31604244	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATIC NEOPLASMS	—	CTD	29610475	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL CARCINOMA	—	GWAS catalog	39366959	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SUBSTANCE ABUSE	—	GWAS catalog	34446935	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	28869590, 30297969, 32499647, 32541925, 35551307, 38374256, 38685053, 39379762	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining Show/Hide Text Mining Associations (8)
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Bipolar Disorder	Bipolar Disorder	GWASCAT_DG	31043756		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brain Neoplasms	Brain neoplasms	Pubtator	34008756	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	CTD_human_DG	28869590		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	GWASCAT_DG	28869590		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	34673934	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Promyelocytic Acute	Promyelocytic leukemia	Pubtator	34673934	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	CTD_human_DG	29610475		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	CTD_human_DG	29610475		★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Related Genes

Sort by: Blended Diseases Pathways Evidence source

EPC2 2 shared evidence sourcesDisgenet (Diabetes mellitus type 2), CTD (Diabetes mellitus type 2) Related via 2 shared evidence sources. KCNK16 2 shared evidence sourcesDisgenet (Diabetes mellitus type 2), CTD (Diabetes mellitus type 2) Related via 2 shared evidence sources. MAEA 2 shared evidence sourcesDisgenet (Diabetes mellitus type 2), CTD (Diabetes mellitus type 2) Related via 2 shared evidence sources. PSMD6 2 shared evidence sourcesDisgenet (Diabetes mellitus type 2), CTD (Diabetes mellitus type 2) Related via 2 shared evidence sources. SCTR 2 shared evidence sourcesDisgenet (Diabetes mellitus type 2), CTD (Diabetes mellitus type 2) Related via 2 shared evidence sources.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
EPC2	0	[]	0	[]	2	["Disgenet (Diabetes mellitus type 2)","CTD (Diabetes mellitus type 2)"]
KCNK16	0	[]	0	[]	2	["Disgenet (Diabetes mellitus type 2)","CTD (Diabetes mellitus type 2)"]
MAEA	0	[]	0	[]	2	["Disgenet (Diabetes mellitus type 2)","CTD (Diabetes mellitus type 2)"]
PSMD6	0	[]	0	[]	2	["Disgenet (Diabetes mellitus type 2)","CTD (Diabetes mellitus type 2)"]
SCTR	0	[]	0	[]	2	["Disgenet (Diabetes mellitus type 2)","CTD (Diabetes mellitus type 2)"]

Diseases Linked via Similar Genes

Alzheimer disease Linked via 1 of 5 related genesEPC2 Schizophrenia Linked via 1 of 5 related genesEPC2 Obesity Linked via 1 of 5 related genesMAEA Metabolic syndrome Linked via 1 of 5 related genesPSMD6

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Alzheimer disease	1	["EPC2"]
Schizophrenia	1	["EPC2"]
Obesity	1	["MAEA"]
Metabolic syndrome	1	["PSMD6"]