Annotation Details for CHML

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Basic Information Top

Gene Symbol:	CHML ( FLJ10071,FLJ13361,REP2 )
Gene Full Name:	choroideremia-like (Rab escort protein 2)
Band:	1q43
Quick Links	Entrez ID:1122; OMIM: 118825; Uniprot ID:RAE2_HUMAN; ENSEMBL ID: ENSG00000203668; HGNC ID: 1941
Relate to Another Database:	SFARIGene; denovo-db

Pathways, Diseases and Drugs

AlzGene, PDGene and SZGene

Gene Ontology

Cellular Component:4 results
Molecular Function:5 results
Biological Process:8 results

GO ID	Evidence	Qualifier	GO_term	References
GO:0005654	IDA	-	nucleoplasm	-
GO:0005829	IDA	-	cytosol	-
GO:0005829	TAS	-	cytosol	-
GO:0005968	IMP	-	Rab-protein geranylgeranyltransferase complex	12356470

GO ID	Evidence	Qualifier	GO_term	References
GO:0005092	IEA	-	GDP-dissociation inhibitor activity	-
GO:0005096	IEA	-	GTPase activator activity	-
GO:0016491	IEA	-	oxidoreductase activity	-
GO:0017137	IDA	-	Rab GTPase binding	15186776
GO:0017137	IPI	-	Rab GTPase binding	15186776

GO ID	Evidence	Qualifier	GO_term	References
GO:0006886	IEA	-	intracellular protein transport	-
GO:0007264	IEA	-	small GTPase mediated signal transduction	-
GO:0018344	IDA	-	protein geranylgeranylation	15186776
GO:0018344	IMP	-	protein geranylgeranylation	12356470
GO:0043547	IEA	-	positive regulation of GTPase activity	-
GO:0043687	TAS	-	post-translational protein modification	-
GO:0055114	IEA	-	oxidation-reduction process	-
GO:0061024	TAS	-	membrane organization	-

Protein-Protein Interaction

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

Gene Symbol	Interactant	Interaction ID	References	Description
RAB1A	CHML	111799	8294464 9730828	Reconstituted Complex
RAB1A	CHML	107546	8294464 9730828	Reconstituted Complex
RAB3A	CHML	111802	8294464	Reconstituted Complex
RAB3A	CHML	107546	8294464	Reconstituted Complex
RAB5A	CHML	111806	8294464 9730828	Reconstituted Complex
RAB5A	CHML	107546	8294464 9730828	Reconstituted Complex
RAB6A	CHML	107546	8294464	Reconstituted Complex
RAB6A	CHML	111808	8294464	Reconstituted Complex

AlzGene, PDGene and SZGene

Animal Model

Mouse:1 results
Fruit Fly:0 results

MGI ID: MGI:101913
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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