CATSPER2 (cation channel sperm associated 2)

Gene

• 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

miRNA

miRTarBase ID	miRNA	Experiments	Reference
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

Gene ontology (GO)

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

Other IDs

• MIM: 607249
• HGNC: 18810
• e!Ensembl: ENSG00000166762

Protein

• UniProt ID: 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

Pathways

Reactome:

Sperm Motility And Taxes

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
CATSPER2-related condition	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, SENSORINEURAL, AND MALE INFERTILITY	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS-INFERTILITY SYNDROME	—	ClinVar, HPO, Orphanet ClinVar, HPO, Orphanet ClinVar, HPO, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Infertility disorder	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG ADENOCARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Male infertility	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rare genetic deafness	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPERMATOGENIC FAILURE 7	—	CTD, ClinVar, Disgenet, HPO CTD, ClinVar, Disgenet, HPO CTD, ClinVar, Disgenet, HPO CTD, ClinVar, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UPPER AERODIGESTIVE TRACT NEOPLASM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Asthenozoospermia	Asthenozoospermia	BEFREE	12825070		★☆☆☆☆ Found in Text Mining only
Asthenozoospermia	Asthenozoospermia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Azoospermia	Azoospermia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	33247676	Associate	★☆☆☆☆ Found in Text Mining only
Deafness	Deafness	Pubtator	17098888	Associate	★☆☆☆☆ Found in Text Mining only
Deafness Sensorineural And Male Infertility	Deafness, sensorineural, and male infertility	Pubtator	17098888, 32203226, 35022556	Associate	★☆☆☆☆ Found in Text Mining only
Deafness, Sensorineural, And Male Infertility	Deafness	ORPHANET_DG	17098888		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Deafness, Sensorineural, And Male Infertility	Deafness	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Deafness-infertility syndrome	Deafness-Infertility Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hearing Loss	Hearing loss	Pubtator	35022556, 37996878	Associate	★☆☆☆☆ Found in Text Mining only
Hearing Loss Sensorineural	Hearing loss	Pubtator	17098888	Associate	★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	Pubtator	33574797	Associate	★☆☆☆☆ Found in Text Mining only
Infertility	Infertility	Pubtator	33574797	Associate	★☆☆☆☆ Found in Text Mining only
Infertility Male	Male infertility	Pubtator	17098888, 31218851, 33574797, 35022556	Associate	★☆☆☆☆ Found in Text Mining only
Oligospermia	Oligospermia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sensorineural hearing loss, bilateral	Sensorineural hearing loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Spermatogenic Failure 7	Spermatogenic Failure	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations