Annotation Details for KCNV1

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Basic Information Top

Gene Symbol:	KCNV1 ( HNKA,KCNB3,KV2.3,KV8.1 )
Gene Full Name:	potassium channel, subfamily V, member 1
Band:	8q23.2
Quick Links	Entrez ID:27012; OMIM: 608164; Uniprot ID:KCNV1_HUMAN; ENSEMBL ID: ENSG00000164794; HGNC ID: 18861
Relate to Another Database:	SFARIGene; denovo-db

Pathways, Diseases and Drugs

AlzGene, PDGene and SZGene

Gene Ontology

Cellular Component:3 results
Molecular Function:3 results
Biological Process:5 results

GO ID	Evidence	Qualifier	GO_term	References
GO:0005886	TAS	-	plasma membrane	-
GO:0005887	TAS	-	integral component of plasma membrane	8670833
GO:0008076	IEA	-	voltage-gated potassium channel complex	-

GO ID	Evidence	Qualifier	GO_term	References
GO:0005249	IBA	-	voltage-gated potassium channel activity	-
GO:0008200	TAS	-	ion channel inhibitor activity	8670833
GO:0015459	TAS	-	potassium channel regulator activity	8670833

GO ID	Evidence	Qualifier	GO_term	References
GO:0006813	TAS	-	potassium ion transport	8670833
GO:0034765	IEA	-	regulation of ion transmembrane transport	-
GO:0051260	IEA	-	protein homooligomerization	-
GO:0065009	IEA	-	regulation of molecular function	-
GO:0071805	IBA	-	potassium ion transmembrane transport	-

Protein-Protein Interaction

AlzGene, PDGene and SZGene

Animal Model

Mouse:1 results
Fruit Fly:0 results

MGI ID: MGI:1914748
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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