Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	9767
Gene name	Jade family PHD finger 3
Gene symbol	JADE3
Synonyms (NCBI Gene)	JADE-3PHF16
Chromosome	X
Chromosome location	Xp11.3
Summary	This gene encodes a member of a family of large proteins containing PHD (plant homeo domain)-type zinc fingers. The encoded protein may be associated in a nuclear complex that functions in histone H4 acetylation. Alternative splicing results in multiple t

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miRTarBase ID	miRNA	Experiments	Reference
MIRT716881	hsa-miR-7110-3p	HITS-CLIP	19536157
MIRT716880	hsa-miR-6817-3p	HITS-CLIP	19536157
MIRT716879	hsa-miR-6873-3p	HITS-CLIP	19536157
MIRT716878	hsa-miR-4768-5p	HITS-CLIP	19536157
MIRT716877	hsa-miR-6833-3p	HITS-CLIP	19536157
MIRT716876	hsa-miR-6809-3p	HITS-CLIP	19536157
MIRT566440	hsa-miR-376c-3p	PAR-CLIP	20371350
MIRT409604	hsa-miR-5582-5p	PAR-CLIP	20371350
MIRT566439	hsa-miR-3622a-5p	PAR-CLIP	20371350
MIRT566438	hsa-miR-4699-5p	PAR-CLIP	20371350
MIRT566437	hsa-miR-4662a-5p	PAR-CLIP	20371350
MIRT409599	hsa-miR-4423-3p	PAR-CLIP	20371350
MIRT409603	hsa-miR-4709-3p	PAR-CLIP	20371350
MIRT566436	hsa-miR-493-5p	PAR-CLIP	20371350
MIRT176032	hsa-miR-30a-5p	HITS-CLIP	22473208
MIRT176035	hsa-miR-30b-5p	HITS-CLIP	22473208
MIRT176033	hsa-miR-30c-5p	HITS-CLIP	22473208
MIRT176034	hsa-miR-30d-5p	HITS-CLIP	22473208
MIRT176038	hsa-miR-30e-5p	HITS-CLIP	22473208
MIRT740476	hsa-miR-7110-3p	HITS-CLIP	19536157
MIRT740477	hsa-miR-6817-3p	HITS-CLIP	19536157
MIRT740478	hsa-miR-6873-3p	HITS-CLIP	19536157
MIRT740479	hsa-miR-4768-5p	HITS-CLIP	19536157
MIRT740480	hsa-miR-6833-3p	HITS-CLIP	19536157
MIRT740481	hsa-miR-6809-3p	HITS-CLIP	19536157
MIRT754024	hsa-miR-376c-3p	PAR-CLIP	20371350
MIRT409604	hsa-miR-5582-5p	PAR-CLIP	20371350
MIRT754025	hsa-miR-3622a-5p	PAR-CLIP	20371350
MIRT754026	hsa-miR-4699-5p	PAR-CLIP	20371350
MIRT754027	hsa-miR-4662a-5p	PAR-CLIP	20371350
MIRT409599	hsa-miR-4423-3p	PAR-CLIP	20371350
MIRT409603	hsa-miR-4709-3p	PAR-CLIP	20371350
MIRT754028	hsa-miR-493-5p	PAR-CLIP	20371350

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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	25416956, 32296183, 32814053
GO:0005654	Component	Nucleoplasm	IDA	16387653
GO:0006275	Process	Regulation of DNA replication	IDA	16387653
GO:0006275	Process	Regulation of DNA replication	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:0046872	Function	Metal ion binding	IEA
GO:0051726	Process	Regulation of cell cycle	IDA	16387653
GO:0051726	Process	Regulation of cell cycle	IEA
GO:2000278	Process	Regulation of DNA biosynthetic process	IDA	16387653
GO:2000278	Process	Regulation of DNA biosynthetic process	IEA

MIM	HGNC	e!Ensembl
300618	22982	ENSG00000102221

Q92613

Protein name

Protein Jade-3 (Jade family PHD finger protein 3) (PHD finger protein 16)

Protein function

Scaffold subunit of some HBO1 complexes, which have a histone H4 acetyltransferase activity.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF10513	EPL1	3 → 178	Enhancer of polycomb-like	Family
PF00628	PHD	202 → 249	PHD-finger	Domain
PF13832	zf-HC5HC2H_2	253 → 365		Domain

Tissue specificity

TISSUE SPECIFICITY: Ubiquitously expressed, with highest levels in placenta and uterus. {ECO:0000269|PubMed:10775800}.

Sequence

MKRHRPVSSSDSSDESPSTSFTSGSMYRIKSKIPNEHKKPAEVFRKDLISAMKLPDSHHI
NPDSYYLFADTWKEEWEKGVQVPASPDTVPQPSLRIIAEKVKDVLFIRPRKYIHCSSPDT
TEPGYINIMELAASVCRYDLDDMDIFWLQELNEDLAEMGCGPVDENLMEKTVEVLERHCH
ENMNHAIETEEGLGIEYDEDVICDVCRSPDSEEGNDMVFCDKCNVCVHQACYGILKVPEG
SWLCRSCVLGIYPQCVLCPKKGGALKTTKTGTKWAHVSCALWIPEVSIACPERMEPITKI
SHIPPSRWALVCNLCKLKTGACIQCSIKSCITAFHVTCAFEHGLEMKTILDEGDEVKFKS
YCLKHSQNRQKLGEAEYPHHRAKEQSQAKSEKTSLRAQKLRELEEEFYSLVRVEDVAAEL
GMPTLAVDFIYNYWKLKRKSNFNKPLFPPKEDEENGLVQPKEESIHTRMRMFMHLRQDLE
RVRNLCYMISRREKLKLSHNKIQEQIFGLQVQLLNQEIDAGLPLTNALENSLFYPPPRIT
LKLKMPKSTPEDHRNSSTETDQQPHSPDSSSSVHSIRNMQVPQESLEMRTKSYPRYPLES
KNNRLLASLSHSRSEAKESSPAWRTPSSECYHGQSLGKPLVLQAALHGQSSIGNGKSQPN
SKFAKSNGLEGSWSGNVTQKDSSSEMFCDQEPVFSPHLVSQGSFRKSTVEHFSRSFKETT
NRWVKNTEDLQCYVKPTKNMSPKEQFWGRQVLRRSAGRAPYQENDGYCPDLELSDSEAES
DGNKEKVRVRKDSSDRENPPHDSRRDCHGKSKTHPLSHSSMQR

Sequence length

823

Interactions

View interactions

	Reactome
			HATs acetylate histones

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)

Show/Hide Unknown Diseases (1)

Phenotype Name	Clinical Significance	Source	Evidence Score
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.
UTERINE FIBROID	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (5)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Colon Carcinoma	Colon Carcinoma	BEFREE	29660380		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	38042284	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	29660380		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	29660380		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	29660380		★★★★★ ★☆☆☆☆ Found in Text Mining only

JADE3 (jade family PHD finger 3)