Annotation Details for ABCB8

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Basic Information Top

Gene Symbol:	ABCB8 ( EST328128,M-ABC1,MABC1 )
Gene Full Name:	ATP-binding cassette, sub-family B (MDR/TAP), member 8
Band:	7q36.1
Quick Links	Entrez ID:11194; OMIM: 605464; Uniprot ID:ABCB8_HUMAN; ENSEMBL ID: ENSG00000197150; HGNC ID: 49
Relate to Another Database:	SFARIGene; denovo-db

Pathways, Diseases and Drugs

AlzGene, PDGene and SZGene

Gene Ontology

Cellular Component:7 results
Molecular Function:3 results
Biological Process:2 results

GO ID	Evidence	Qualifier	GO_term	References
GO:0005634	IDA	-	nucleus	-
GO:0005730	IDA	-	nucleolus	-
GO:0005739	IDA	-	mitochondrion	-
GO:0005740	TAS	-	mitochondrial envelope	9878413
GO:0005743	IEA	-	mitochondrial inner membrane	-
GO:0016020	TAS	-	membrane	9878413
GO:0043190	TAS	-	ATP-binding cassette (ABC) transporter complex	9878413

GO ID	Evidence	Qualifier	GO_term	References
GO:0005215	TAS	-	transporter activity	9878413
GO:0005524	IEA	-	ATP binding	-
GO:0042626	IEA	-	ATPase activity, coupled to transmembrane movement of substances	-

Protein-Protein Interaction

BioGRID:2 results
BIND:0 results
HPRD:0 results

Gene Symbol	Interactant	Interaction ID	References	Description
ABCB8	SAT1	116364	16169070	Two-hybrid
ABCB8	SAT1	112210	16169070	Two-hybrid

AlzGene, PDGene and SZGene

Animal Model

Mouse:1 results
Fruit Fly:0 results

MGI ID: MGI:1351667
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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