• Gene id: 117155

Gene Summary

• Gene Symbol: CATSPER2   Gene   UCSC   Ensembl
• Gene name: cation channel sperm associated 2
• Alternate names: cation channel sperm-associated protein 2, sperm ion channel,
• Gene location: 15q15.3 (43648883: 43630561)     Exons: 14     NC_000015.10
• Gene summary(Entrez): This gene encodes a member of a family of cation channel proteins that localize to the flagellum of spermatozoa. Defects at this locus causes male infertility. Alternatively spliced transcript variants have been observed at this locus. Readthrough transcr
• OMIM: 607249

Protein Summary

• Protein general information: Q96P56  
  • Name: Cation channel sperm associated protein 2 (CatSper2)
  • Length: 530  
  • Mass: 62,041
• Sequence:

  MAAYQQEEQMQLPRADAIRSRLIDTFSLIEHLQGLSQAVPRHTIRELLDPSRQKKLVLGDQHQLVRFSIKPQRIE
  QISHAQRLLSRLHVRCSQRPPLSLWAGWVLECPLFKNFIIFLVFLNTIILMVEIELLESTNTKLWPLKLTLEVAA
  WFILLIFILEILLKWLSNFSVFWKSAWNVFDFVVTMLSLLPEVVVLVGVTGQSVWLQLLRICRVLRSLKLLAQFR
  QIQIIILVLVRALKSMTFLLMLLLIFFYIFAVTGVYVFSEYTRSPRQDLEYHVFFSDLPNSLVTVFILFTLDHWY
  ALLQDVWKVPEVSRIFSSIYFILWLLLGSIIFRSIIVAMMVTNFQNIRKELNEEMARREVQLKADMFKRQIIQRR
  KNMSHEALTSSHSKIEDSSRGASQQRESLDLSEVSEVESNYGATEEDLITSASKTEETLSKKREYQSSSCVSSTS
  SSYSSSSESRFSESIGRLDWETLVHENLPGLMEMDQDDRVWPRDSLFRYFELLEKLQYNLEERKKLQEFAVQALM
  NLEDK

• Structural information:
  • Interpro: IPR028747  IPR005821  IPR027359  
  • STRING: ENSP00000299989
• Other Databases: GeneCards:  CATSPER2  Malacards:  CATSPER2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005227	calcium activated cation channel activity	IEA	molecular function
GO:0005245	voltage-gated calcium channel activity	IBA	molecular function
GO:0005515	protein binding	IPI	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:0007283	spermatogenesis	IEA	biological process
GO:0030154	cell differentiation	IEA	biological process
GO:0030317	flagellated sperm motility	IBA	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:0036128	CatSper complex	ISS	cellular component
GO:0070588	calcium ion transmembrane transport	IEA	biological process
GO:0086010	membrane depolarization during action potential	IBA	biological process
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	IBA	molecular function
GO:0005262	calcium channel activity	IEA	molecular function
GO:0005515	protein binding	IPI	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: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:0030154	cell differentiation	IEA	biological process
GO:0030317	flagellated sperm motility	IEA	biological process
GO:0030317	flagellated sperm motility	IBA	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:0036128	CatSper complex	IEA	cellular component
GO:0036128	CatSper complex	ISS	cellular component
GO:0042995	cell projection	IEA	cellular component
GO:0055085	transmembrane transport	IEA	biological process
GO:0070588	calcium ion transmembrane transport	IEA	biological process
GO:0086010	membrane depolarization during action potential	IBA	biological process
GO:0005245	voltage-gated calcium channel activity	IBA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005886	plasma membrane	IBA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0030317	flagellated sperm motility	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
Deafness	INFBASE: 17098888
Congenital dyserythropoietic anemia type I (CDAI)	INFBASE: 12825070
Oligoasthenozoospermia	MIK: 23519396
Male factor infertility	MIK: 17347248
Asthenoteratozoospermia	MIK: 17098888
Asthenozoospermia	MIK: 21255775
Associated with sperm hyperactivation	MIK: 22002435
Asthenoteratozoospermia	MIK: 12825070
Asthenozoospermia	MIK: 21255775
Male Infertility	MIK: 14657366
Oligoasthenozoospermia	MIK: 23519396

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17347248	Infertility			17 normal males	Male infertility	CatSper 3
17098888	Asthenoteratozoospermia	Deletion of contiguous genes at 15q15.3	Iran	3 families	Male infertility	KIAA0377 CKMT1B STRC
12825070	Asthenoteratozoospermia	CDA1 mutation and approximately 70 kb deletion of the proximal copy of a 106 kb tandem repeat on chromosome 15q15	French	3 members of a family	Male infertility	stereocilin
22002435	Associated with sperm hyperactivation				Male infertility
21686705	Infertility	Deletion of CATSPER2, STRC, CKMT1		3	Male infertility	KIAA0377  CKMT1B STRC
16036917	Infertility				Male infertility
14657366	Infertility				Male infertility
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
23519396	Oligoasthenozoospermic				Male infertility	CatSper 2 Tektin 2