Annotation Details for GLIS2

View Evidences	View Variants	View Annotations

Basic Information Top

Gene Symbol:	GLIS2 ( FLJ38247,NKL,NPHP7 )
Gene Full Name:	GLIS family zinc finger 2
Band:	16p13.3
Quick Links	Entrez ID:84662; OMIM: 608539; Uniprot ID:GLIS2_HUMAN; ENSEMBL ID: ENSG00000126603; HGNC ID: 29450
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:11 results

GO ID	Evidence	Qualifier	GO_term	References
GO:0005634	ISS	-	nucleus	-
GO:0005737	IEA	-	cytoplasm	-
GO:0016607	ISS	-	nuclear speck	-
GO:0097730	IEA	-	non-motile cilium	-

GO ID	Evidence	Qualifier	GO_term	References
GO:0000977	IEA	-	RNA polymerase II regulatory region sequence-specific DNA binding	-
GO:0001077	ISS	-	transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding	-
GO:0005515	IPI	-	protein binding	17289029
GO:0044212	ISS	-	transcription regulatory region DNA binding	-
GO:0046872	IEA	-	metal ion binding	-

GO ID	Evidence	Qualifier	GO_term	References
GO:0000122	ISS	-	negative regulation of transcription from RNA polymerase II promoter	-
GO:0006366	IEA	-	transcription from RNA polymerase II promoter	-
GO:0007399	IEA	-	nervous system development	-
GO:0043433	ISS	-	negative regulation of sequence-specific DNA binding transcription factor activity	-
GO:0045879	ISS	-	negative regulation of smoothened signaling pathway	-
GO:0045892	ISS	-	negative regulation of transcription, DNA-templated	-
GO:0045893	ISS	-	positive regulation of transcription, DNA-templated	-
GO:0045944	ISS	-	positive regulation of transcription from RNA polymerase II promoter	-
GO:0060994	IEA	-	regulation of transcription from RNA polymerase II promoter involved in kidney development	-
GO:0061005	IEA	-	cell differentiation involved in kidney development	-
GO:1900182	IEA	-	positive regulation of protein localization to nucleus	-

Protein-Protein Interaction

AlzGene, PDGene and SZGene

Animal Model

Mouse:1 results
Fruit Fly:0 results

MGI ID: MGI:1932535
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

Copyright © 2017, Center for Bioinformatics , Peking University | All Rights Reserved