Annotation Details for PLEKHA4

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Basic Information Top

Gene Symbol:	PLEKHA4 ( PEPP1 )
Gene Full Name:	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4
Band:	19q13.33
Quick Links	Entrez ID:57664; OMIM: 607769; Uniprot ID:PKHA4_HUMAN; ENSEMBL ID: ENSG00000105559; HGNC ID: 14339
Relate to Another Database:	SFARIGene; denovo-db

Pathways, Diseases and Drugs

AlzGene, PDGene and SZGene

Gene Ontology

Cellular Component:3 results
Molecular Function:1 results
Biological Process:2 results

GO ID	Evidence	Qualifier	GO_term	References
GO:0005575	ND	-	cellular_component	-
GO:0005737	IEA	-	cytoplasm	-
GO:0005886	TAS	-	plasma membrane	-

Protein-Protein Interaction

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

Gene Symbol	Interactant	Interaction ID	References	Description
PLEKHA4	EEF1G	121697	16169070	Two-hybrid
PLEKHA4	EEF1G	108257	16169070	Two-hybrid
PLEKHA4	SETDB1	121697	16169070	Two-hybrid
PLEKHA4	SETDB1	115202	16169070	Two-hybrid
PLEKHA4	KAT5	121697	16169070	Two-hybrid
PLEKHA4	KAT5	115779	16169070	Two-hybrid
PLEKHA4	C1orf103	121697	16169070	Two-hybrid
PLEKHA4	C1orf103	120905	16169070	Two-hybrid

AlzGene, PDGene and SZGene

Animal Model

Mouse:1 results
Fruit Fly:0 results

MGI ID: MGI:1916467
Data Attributes: MGI curated

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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