Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
117155
Gene name Gene Name - the full gene name approved by the HGNC.
Cation channel sperm associated 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CATSPER2
Synonyms (NCBI Gene) Gene synonyms aliases
-
Chromosome Chromosome number
15
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
15q15.3
Summary Summary of gene provided in NCBI Entrez Gene.
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 miRNA information provided by mirtarbase database.
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
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005227 Function Calcium activated cation channel activity IEA
GO:0005244 Function Voltage-gated ion channel activity IEA
GO:0005262 Function Calcium channel activity IEA
GO:0005515 Function Protein binding IPI 16740636
GO:0005886 Component Plasma membrane TAS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
607249 18810 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
ALLQDVWKVPEVSRIFSSIYFILWLLLGSIIFRSIIVAMMVTNFQNIRKELN
EEMARREV
QLKADMFKRQIIQRRKNMSHEALTSSHSKIEDSSRGASQQRESLDLSEVSEVESNYGATE
EDLITSASKTEETLSKKREYQSSSCVSSTSSSYSSSSESRFSESIGRLDWETLVHENLPG
LMEMDQDDRVWPRDSLFRYFELLEKLQYNLEERKKLQEFAVQALMNLEDK
Sequence length 530
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Sperm Motility And Taxes
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Azoospermia Azoospermia rs200969445, rs144567652, rs765353898
Deafness Deafness, Sensorineural, And Male Infertility rs267607135, rs387906219, rs387906220, rs387906221, rs387906222, rs606231120, rs267606855, rs121918370, rs137853185, rs137853186, rs137853187, rs137853188, rs587776522, rs587776523, rs200781822
View all (1019 more)
17098888
Deafness-infertility syndrome Deafness-infertility syndrome rs778909195
Hearing loss Sensorineural Hearing Loss (disorder) rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359
View all (184 more)
Associations from Text Mining
Disease Name Relationship Type References
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