Annotation Details for PHF12

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Basic Information Top

Gene Symbol:	PHF12 ( FLJ34122,KIAA1523,MGC131914,PF1 )
Gene Full Name:	PHD finger protein 12
Band:	17q11.2
Quick Links	Entrez ID:57649; OMIM: NA; Uniprot ID:PHF12_HUMAN; ENSEMBL ID: ENSG00000109118; HGNC ID: 20816
Relate to Another Database:	SFARIGene; denovo-db

Pathways, Diseases and Drugs

AlzGene, PDGene and SZGene

Gene Ontology

Cellular Component:4 results
Molecular Function:8 results
Biological Process:3 results

GO ID	Evidence	Qualifier	GO_term	References
GO:0005634	IDA	-	nucleus	11390640
GO:0005654	IDA	-	nucleoplasm	-
GO:0016580	IDA	-	Sin3 complex	22048773
GO:0017053	IDA	-	transcriptional repressor complex	11390640

GO ID	Evidence	Qualifier	GO_term	References
GO:0000977	IBA	-	RNA polymerase II regulatory region sequence-specific DNA binding	-
GO:0001106	IDA	-	RNA polymerase II transcription corepressor activity	22048773
GO:0001222	IEA	-	transcription corepressor binding	-
GO:0003682	IBA	-	chromatin binding	-
GO:0005515	IPI	-	protein binding	11390640
GO:0035091	IDA	-	phosphatidylinositol binding	16893883
GO:0042393	IBA	-	histone binding	-
GO:0046872	IEA	-	metal ion binding	-

GO ID	Evidence	Qualifier	GO_term	References
GO:0000122	IDA	-	negative regulation of transcription from RNA polymerase II promoter	22048773
GO:0006351	IEA	-	transcription, DNA-templated	-
GO:0045892	IDA	-	negative regulation of transcription, DNA-templated	11390640

Protein-Protein Interaction

BioGRID:8 results
BIND:0 results
HPRD:0 results

Gene Symbol	Interactant	Interaction ID	References	Description
PHF12	HDAC1	121686	11390640	Affinity Capture-Western
PHF12	HDAC1	109315	11390640	Affinity Capture-Western
PHF12	SAP30	121686	11390640	Affinity Capture-Western
PHF12	SAP30	114346	11390640	Affinity Capture-Western
PHF12	MORF4L1	121686	21440557	Reconstituted Complex
PHF12	MORF4L1	116134	21440557	Reconstituted Complex
PHF12	SIN3A	121686	11390640 21440557	Affinity Capture-Western; Co-crystal Structure; Reconstituted Complex; Two-hybrid
PHF12	SIN3A	117439	11390640 21440557	Affinity Capture-Western; Co-crystal Structure; Reconstituted Complex; Two-hybrid

AlzGene, PDGene and SZGene

Animal Model

Mouse:1 results
Fruit Fly:0 results

MGI ID: MGI:1924057
Data Attributes: MGI curated and HomoloGene calculated

Simple Query:

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

Studies: 1,036
Genes: 1,379
CNVs/SVs: 5,420
SNVs/Indels: 11,669
de novo Mutations: 5,669
Mosaics: 789
Linkage Regions: 172

Paper Collected: 6/30/2018

Last Update: 8/26/2018

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