Annotation Details for CATSPER4

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Basic Information Top

Gene Symbol:	CATSPER4 ( MGC149223 )
Gene Full Name:	cation channel, sperm associated 4
Band:	1p36.11
Quick Links	Entrez ID:378807; OMIM: 609121; Uniprot ID:CTSR4_HUMAN; ENSEMBL ID: ENSG00000188782; HGNC ID: 23220
Relate to Another Database:	SFARIGene; denovo-db

Pathways, Diseases and Drugs

AlzGene, PDGene and SZGene

Gene Ontology

Cellular Component:5 results
Molecular Function:3 results
Biological Process:9 results

GO ID	Evidence	Qualifier	GO_term	References
GO:0001669	IEA	-	acrosomal vesicle	-
GO:0005886	IBA	-	plasma membrane	-
GO:0005886	TAS	-	plasma membrane	-
GO:0036128	ISS	-	CatSper complex	-
GO:0097228	IEA	-	sperm principal piece	-

GO ID	Evidence	Qualifier	GO_term	References
GO:0005227	IEA	-	calcium activated cation channel activity	-
GO:0005245	IEA	-	voltage-gated calcium channel activity	-
GO:0072345	IBA	-	NAADP-sensitive calcium-release channel activity	-

GO ID	Evidence	Qualifier	GO_term	References
GO:0006814	IEA	-	sodium ion transport	-
GO:0007275	IEA	-	multicellular organism development	-
GO:0030317	IEA	-	flagellated sperm motility	-
GO:0032570	TAS	-	response to progesterone	-
GO:0034765	IEA	-	regulation of ion transmembrane transport	-
GO:0035036	TAS	-	sperm-egg recognition	-
GO:0048240	IEA	-	sperm capacitation	-
GO:0051209	IEA	-	release of sequestered calcium ion into cytosol	-
GO:0086010	IBA	-	membrane depolarization during action potential	-

Protein-Protein Interaction

AlzGene, PDGene and SZGene

Animal Model

Mouse:1 results
Fruit Fly:0 results

MGI ID: MGI:3043288
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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