• Gene id: 378807

Gene Summary

• Gene Symbol: CATSPER4   Gene   UCSC   Ensembl
• Gene name: cation channel sperm associated 4
• Alternate names: cation channel sperm-associated protein 4, ion channel CatSper4,
• Gene location: 1p36.11 (26189961: 26202541)     Exons: 11     NC_000001.11
• OMIM: 609121

Protein Summary

• Protein general information: Q7RTX7  
  • Name: Cation channel sperm associated protein 4 (CatSper4)
  • Length: 472  
  • Mass: 54,092
• Sequence:

  MRDNEKAWWQQWTSHTGLEGWGGTQEDRMGFGGAVAALRGRPSPLQSTIHESYGRPEEQVLINRQEITNKADAWD
  MQEFITHMYIKQLLRHPAFQLLLALLLVINAITIALRTNSYLDQKHYELFSTIDDIVLTILLCEVLLGWLNGFWI
  FWKDGWNILNFIIVFILLLRFFINEINIPSINYTLRALRLVHVCMAVEPLARIIRVILQSVPDMANIMVLILFFM
  LVFSVFGVTLFGAFVPKHFQNIQVALYTLFICITQDGWVDIYSDFQTEKREYAMEIGGAIYFTIFITIGAFIGIN
  LFVIVVTTNLEQMMKAGEQGQQQRITFSETGAEEEEENDQLPLVHCVVARSEKSGLLQEPLAGGPLSNLSENTCD
  NFCLVLEAIQENLRQYKEIRDELNMIVEEVRAIRFNQEQESEVLNRRSSTSGSLETTSSKDIRQMSQQQDLLSAL
  VSMEKVHDSSSQILLKKHKSSH

• Structural information:
  • Interpro: IPR028744  IPR005821  IPR027359  
  • STRING: ENSP00000390423
• Other Databases: GeneCards:  CATSPER4  Malacards:  CATSPER4

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001669	acrosomal vesicle	IEA	cellular component
GO:0005227	calcium activated cation channel activity	IEA	molecular function
GO:0005245	voltage-gated calcium channel activity	IEA	molecular function
GO:0005248	voltage-gated sodium channel activity	IBA	molecular function
GO:0005886	plasma membrane	IBA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0007275	multicellular organism development	IEA	biological process
GO:0019228	neuronal action potential	IBA	biological process
GO:0030317	flagellated sperm motility	IEA	biological process
GO:0032570	response to progesterone	TAS	biological process
GO:0034765	regulation of ion transmembrane transport	IEA	biological process
GO:0035036	sperm-egg recognition	TAS	biological process
GO:0035725	sodium ion transmembrane transport	IEA	biological process
GO:0036128	CatSper complex	ISS	cellular component
GO:0048240	sperm capacitation	IEA	biological process
GO:0060078	regulation of postsynaptic membrane potential	IEA	biological process
GO:0070588	calcium ion transmembrane transport	IEA	biological process
GO:0086010	membrane depolarization during action potential	IBA	biological process
GO:0097228	sperm principal piece	IEA	cellular component
GO:0001669	acrosomal vesicle	IEA	cellular component
GO:0005216	ion channel activity	IEA	molecular function
GO:0005227	calcium activated cation channel activity	IEA	molecular function
GO:0005244	voltage-gated ion channel activity	IEA	molecular function
GO:0005245	voltage-gated calcium channel activity	IEA	molecular function
GO:0005248	voltage-gated sodium channel activity	IBA	molecular function
GO:0005262	calcium channel activity	IEA	molecular function
GO:0005886	plasma membrane	IBA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005929	cilium	IEA	cellular component
GO:0006810	transport	IEA	biological process
GO:0006811	ion transport	IEA	biological process
GO:0006811	ion transport	IEA	biological process
GO:0006814	sodium ion transport	IEA	biological process
GO:0006816	calcium ion transport	IEA	biological process
GO:0007275	multicellular organism development	IEA	biological process
GO:0007283	spermatogenesis	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0019228	neuronal action potential	IBA	biological process
GO:0030154	cell differentiation	IEA	biological process
GO:0030317	flagellated sperm motility	IEA	biological process
GO:0030317	flagellated sperm motility	IEA	biological process
GO:0031514	motile cilium	IEA	cellular component
GO:0032570	response to progesterone	TAS	biological process
GO:0034765	regulation of ion transmembrane transport	IEA	biological process
GO:0035036	sperm-egg recognition	TAS	biological process
GO:0035725	sodium ion transmembrane transport	IEA	biological process
GO:0036128	CatSper complex	IEA	cellular component
GO:0036128	CatSper complex	IEA	cellular component
GO:0036128	CatSper complex	ISS	cellular component
GO:0042995	cell projection	IEA	cellular component
GO:0048240	sperm capacitation	IEA	biological process
GO:0055085	transmembrane transport	IEA	biological process
GO:0060078	regulation of postsynaptic membrane potential	IEA	biological process
GO:0070588	calcium ion transmembrane transport	IEA	biological process
GO:0086010	membrane depolarization during action potential	IBA	biological process
GO:0097228	sperm principal piece	IEA	cellular component
GO:0005248	voltage-gated sodium channel activity	IBA	molecular function
GO:0005886	plasma membrane	IBA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0019228	neuronal action potential	IBA	biological process
GO:0032570	response to progesterone	TAS	biological process
GO:0035036	sperm-egg recognition	TAS	biological process
GO:0036128	CatSper complex	ISS	cellular component
GO:0086010	membrane depolarization during action potential	IBA	biological process

Diseases

Associated diseases	References
Male factor infertility	MIK: 21255775
Asthenozoospermia	MIK: 21255775
Chronic renal failure	GAD: 21085059
Asthenozoospermia	MIK: 21255775
Required for hyperactivated sperm motility during capacitation and for male fertility	MIK: 17344468

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21255775	Asthenozoospermia	AKAP4 (c.887G>A -> p.Gly296Asn), CATSPER4 (c.247A>G -> p.Met83Val; c.157T>C -> p.Tyr53His; c.992G>A -> p.Gly331Asn), CATSPER1 (c.148G>A -> p.Val50Met), CATSPER3 (c.193T>C -> p.Phe65Leu), CATSPER2 (c.1289C>G -> p.Thr430Arg), PLA2G6 (c.187A>G -> p.Arg63Gly		30 men with isolated asthenozoospermia	Male infertility	ADCY10 AKAP4 CATSPER1 CATSPER2 CATSPER3 CATSPER4  GAPDHS PLA2G6 and SLC9A10
17344468	Required for hyperactivated sperm motility during capacitation and for male fertility				Male infertility