Annotation Details for DENND1B

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Basic Information Top

Gene Symbol:	DENND1B ( C1ORF18,C1orf218,DKFZp547O0715,FAM31B,FLJ20054,FLJ21179,FLJ33888,MGC103810,MGC27044 )
Gene Full Name:	DENN/MADD domain containing 1B
Band:	1q31.3
Quick Links	Entrez ID:163486; OMIM: 613292; Uniprot ID:DEN1B_HUMAN; ENSEMBL ID: ENSG00000213047; HGNC ID: 28404
Relate to Another Database:	SFARIGene; denovo-db

Pathways, Diseases and Drugs

AlzGene, PDGene and SZGene

Gene Ontology

Cellular Component:4 results
Molecular Function:3 results
Biological Process:7 results

GO ID	Evidence	Qualifier	GO_term	References
GO:0005829	IDA	-	cytosol	-
GO:0005829	TAS	-	cytosol	-
GO:0016607	IDA	-	nuclear speck	-
GO:0030136	IEA	-	clathrin-coated vesicle	-

GO ID	Evidence	Qualifier	GO_term	References
GO:0017112	IDA	-	Rab guanyl-nucleotide exchange factor activity	20937701
GO:0017112	TAS	-	Rab guanyl-nucleotide exchange factor activity	-
GO:0017137	IEA	-	Rab GTPase binding	-

GO ID	Evidence	Qualifier	GO_term	References
GO:0015031	IEA	-	protein transport	-
GO:0032456	ISS	-	endocytic recycling	-
GO:0035745	IMP	-	T-helper 2 cell cytokine production	26774822
GO:0043547	IEA	-	positive regulation of GTPase activity	-
GO:0050776	ISS	-	regulation of immune response	-
GO:0050852	IMP	-	T cell receptor signaling pathway	26774822
GO:0061024	TAS	-	membrane organization	-

Protein-Protein Interaction

AlzGene, PDGene and SZGene

Animal Model

Mouse:1 results
Fruit Fly:0 results

MGI ID: MGI:2447812
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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