Annotation Details for TFAP2D

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Basic Information Top

Gene Symbol:	TFAP2D ( TFAP2BL1 )
Gene Full Name:	transcription factor AP-2 delta (activating enhancer binding protein 2 delta)
Band:	6p12.3
Quick Links	Entrez ID:83741; OMIM: 610161; Uniprot ID:AP2D_HUMAN; ENSEMBL ID: ENSG00000008197; HGNC ID: 15581
Relate to Another Database:	SFARIGene; denovo-db

Pathways, Diseases and Drugs

AlzGene, PDGene and SZGene

Gene Ontology

Cellular Component:2 results
Molecular Function:2 results
Biological Process:6 results

GO ID	Evidence	Qualifier	GO_term	References
GO:0005634	IBA	-	nucleus	-
GO:0005667	IEA	-	transcription factor complex	-

GO ID	Evidence	Qualifier	GO_term	References
GO:0000977	IBA	-	RNA polymerase II regulatory region sequence-specific DNA binding	-
GO:0000981	IBA	-	RNA polymerase II transcription factor activity, sequence-specific DNA binding	-

GO ID	Evidence	Qualifier	GO_term	References
GO:0006351	IEA	-	transcription, DNA-templated	-
GO:0042127	IBA	-	regulation of cell proliferation	-
GO:0043524	IEA	-	negative regulation of neuron apoptotic process	-
GO:0045944	IEA	-	positive regulation of transcription from RNA polymerase II promoter	-
GO:0048856	IBA	-	anatomical structure development	-
GO:0061379	IEA	-	inferior colliculus development	-

Protein-Protein Interaction

AlzGene, PDGene and SZGene

Animal Model

Mouse:1 results
Fruit Fly:0 results

MGI ID: MGI:2153466
Data Attributes: 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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