Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	117155
Gene name	Cation channel sperm associated 2
Gene symbol	CATSPER2
Synonyms (NCBI Gene)	-
Chromosome	15
Chromosome location	15q15.3
Summary	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

Show/Hide all (57)

miRTarBase ID	miRNA	Experiments
MIRT1956220	hsa-miR-106a	CLIP-seq
MIRT1956221	hsa-miR-106b	CLIP-seq
MIRT1956222	hsa-miR-17	CLIP-seq
MIRT1956223	hsa-miR-20a	CLIP-seq
MIRT1956224	hsa-miR-20b	CLIP-seq
MIRT1956225	hsa-miR-302a	CLIP-seq
MIRT1956226	hsa-miR-302b	CLIP-seq
MIRT1956227	hsa-miR-302c	CLIP-seq
MIRT1956228	hsa-miR-302d	CLIP-seq
MIRT1956229	hsa-miR-302e	CLIP-seq
MIRT1956230	hsa-miR-372	CLIP-seq
MIRT1956231	hsa-miR-373	CLIP-seq
MIRT1956232	hsa-miR-4438	CLIP-seq
MIRT1956233	hsa-miR-4638-5p	CLIP-seq
MIRT1956234	hsa-miR-4731-5p	CLIP-seq
MIRT1956235	hsa-miR-4797-3p	CLIP-seq
MIRT1956236	hsa-miR-5095	CLIP-seq
MIRT1956237	hsa-miR-512-3p	CLIP-seq
MIRT1956238	hsa-miR-519a	CLIP-seq
MIRT1956239	hsa-miR-519b-3p	CLIP-seq
MIRT1956240	hsa-miR-519c-3p	CLIP-seq
MIRT1956241	hsa-miR-519d	CLIP-seq
MIRT1956242	hsa-miR-520a-3p	CLIP-seq
MIRT1956243	hsa-miR-520b	CLIP-seq
MIRT1956244	hsa-miR-520c-3p	CLIP-seq
MIRT1956245	hsa-miR-520d-3p	CLIP-seq
MIRT1956246	hsa-miR-520e	CLIP-seq
MIRT1956247	hsa-miR-520g	CLIP-seq
MIRT1956248	hsa-miR-520h	CLIP-seq
MIRT1956249	hsa-miR-93	CLIP-seq
MIRT1956220	hsa-miR-106a	CLIP-seq
MIRT1956221	hsa-miR-106b	CLIP-seq
MIRT1956222	hsa-miR-17	CLIP-seq
MIRT1956223	hsa-miR-20a	CLIP-seq
MIRT1956224	hsa-miR-20b	CLIP-seq
MIRT1956225	hsa-miR-302a	CLIP-seq
MIRT1956226	hsa-miR-302b	CLIP-seq
MIRT1956227	hsa-miR-302c	CLIP-seq
MIRT1956228	hsa-miR-302d	CLIP-seq
MIRT1956229	hsa-miR-302e	CLIP-seq
MIRT1956230	hsa-miR-372	CLIP-seq
MIRT1956231	hsa-miR-373	CLIP-seq
MIRT1956232	hsa-miR-4438	CLIP-seq
MIRT1956233	hsa-miR-4638-5p	CLIP-seq
MIRT1956234	hsa-miR-4731-5p	CLIP-seq
MIRT1956236	hsa-miR-5095	CLIP-seq
MIRT1956237	hsa-miR-512-3p	CLIP-seq
MIRT1956241	hsa-miR-519d	CLIP-seq
MIRT1956242	hsa-miR-520a-3p	CLIP-seq
MIRT1956243	hsa-miR-520b	CLIP-seq
MIRT1956244	hsa-miR-520c-3p	CLIP-seq
MIRT1956245	hsa-miR-520d-3p	CLIP-seq
MIRT1956246	hsa-miR-520e	CLIP-seq
MIRT1956247	hsa-miR-520g	CLIP-seq
MIRT1956248	hsa-miR-520h	CLIP-seq
MIRT1956249	hsa-miR-93	CLIP-seq
MIRT2446243	hsa-miR-1976	CLIP-seq

Show/Hide all (28)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005216	Function	Monoatomic ion channel activity	IEA
GO:0005227	Function	Calcium-activated cation channel activity	IEA
GO:0005245	Function	Voltage-gated calcium channel activity	IDA	21412338
GO:0005245	Function	Voltage-gated calcium channel activity	IEA
GO:0005262	Function	Calcium channel activity	IEA
GO:0005515	Function	Protein binding	IPI	16740636
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0005929	Component	Cilium	IEA
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006816	Process	Calcium ion transport	IDA	21412338
GO:0006816	Process	Calcium ion transport	IEA
GO:0007283	Process	Spermatogenesis	IEA
GO:0009566	Process	Fertilization	IBA
GO:0016020	Component	Membrane	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0030317	Process	Flagellated sperm motility	IBA
GO:0030317	Process	Flagellated sperm motility	IEA
GO:0031514	Component	Motile cilium	IEA
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0034702	Component	Monoatomic ion channel complex	IEA
GO:0036128	Component	CatSper complex	IBA
GO:0036128	Component	CatSper complex	IEA
GO:0036128	Component	CatSper complex	ISS
GO:0042995	Component	Cell projection	IEA
GO:0048240	Process	Sperm capacitation	IBA
GO:0055085	Process	Transmembrane transport	IEA
GO:0070588	Process	Calcium ion transmembrane transport	IEA

MIM	HGNC	e!Ensembl
607249	18810	ENSG00000166762

Q96P56

Protein name

Cation channel sperm-associated protein 2 (CatSper2)

Protein function

Pore-forming subunit of the CatSper complex, a sperm-specific voltage-gated calcium channel, that plays a central role in calcium-dependent physiological responses essential for successful fertilization, such as sperm hyperactivation, acrosome r

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00520	Ion_trans	107 → 352	Ion transport protein	Family

Tissue specificity

TISSUE SPECIFICITY: Testis-specific. {ECO:0000269|PubMed:11675491, ECO:0000269|PubMed:17347248}.

Sequence

MAAYQQEEQMQLPRADAIRSRLIDTFSLIEHLQGLSQAVPRHTIRELLDPSRQKKLVLGD
QHQLVRFSIKPQRIEQISHAQRLLSRLHVRCSQRPPLSLWAGWVLECPLFKNFIIFLVFL
NTIILMVEIELLESTNTKLWPLKLTLEVAAWFILLIFILEILLKWLSNFSVFWKSAWNVF
DFVVTMLSLLPEVVVLVGVTGQSVWLQLLRICRVLRSLKLLAQFRQIQIIILVLVRALKS
MTFLLMLLLIFFYIFAVTGVYVFSEYTRSPRQDLEYHVFFSDLPNSLVTVFILFTLDHWY
ALLQDVWKVPEVSRIFSSIYFILWLLLGSIIFRSIIVAMMVTNFQNIRKELNEEMARREV
QLKADMFKRQIIQRRKNMSHEALTSSHSKIEDSSRGASQQRESLDLSEVSEVESNYGATE
EDLITSASKTEETLSKKREYQSSSCVSSTSSSYSSSSESRFSESIGRLDWETLVHENLPG
LMEMDQDDRVWPRDSLFRYFELLEKLQYNLEERKKLQEFAVQALMNLEDK

Sequence length

530

Interactions

View interactions

	Reactome
			Sperm Motility And Taxes

Show/Hide Unknown Diseases (14)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
CATSPER2-related condition	Uncertain significance	rs377026307	RCV005357828
Cervical cancer	Likely benign	rs11638719	RCV005929352
Cholangiocarcinoma	Benign	rs56226333	RCV005918760
Gastric cancer	Likely benign	rs11638719	RCV005929353
Infertility disorder	Conflicting classifications of pathogenicity	rs146701338	RCV001327948
Male infertility	Uncertain significance	rs199516208	RCV001283746
Malignant lymphoma, large B-cell, diffuse	Benign	rs56226333	RCV005918758
Malignant tumor of urinary bladder	Likely benign	rs11638719	RCV005929350
Melanoma	Likely benign	rs11638719	RCV005929355
Nonpapillary renal cell carcinoma	Likely benign	rs11638719	RCV005929351
Ovarian serous cystadenocarcinoma	Likely benign	rs11638719	RCV005929354
Rare genetic deafness	Benign	rs7169097, rs199882327	RCV000986171 RCV000986172
Uterine carcinosarcoma	Benign	rs56226333	RCV005918759
Uveal melanoma	Benign	rs56226333	RCV005918757

Show/Hide Text Mining Associations (11)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Carcinogenesis	Associate	33247676
Deafness	Associate	17098888
Deafness Sensorineural And Male Infertility	Associate	17098888, 32203226, 35022556
Esophageal Motility Disorders	Associate	17098888
Genetic Diseases Inborn	Associate	26453676
Hearing Loss	Associate	35022556, 37996878
Hearing Loss Sensorineural	Associate	17098888
Hypogonadism	Associate	33574797
Infertility	Associate	33574797
Infertility Male	Associate	17098888, 31218851, 33574797, 35022556
Male Infertility with Large Headed Multiflagellar Polyploid Spermatozoa	Associate	33574797

CATSPER2 (cation channel sperm associated 2)