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Aliases for CATSPER2 Gene

Aliases for CATSPER2 Gene

  • Cation Channel Sperm Associated 2 2 3 5
  • Cation Channel, Sperm Associated 2 2
  • CatSper2 4

External Ids for CATSPER2 Gene

Previous GeneCards Identifiers for CATSPER2 Gene

  • GC15M039290
  • GC15M036818
  • GC15M041501
  • GC15M041638
  • GC15M041710
  • GC15M043920
  • GC15M020752

Summaries for CATSPER2 Gene

Entrez Gene Summary for CATSPER2 Gene

  • Calcium ions play a primary role in the regulation of sperm motility. This gene belongs to a family of putative cation channels that are specific to spermatozoa and localize to the flagellum. The protein family features a single repeat with six membrane-spanning segments and a predicted calcium-selective pore region. This gene is part of a tandem repeat on chromosome 15q15; the second copy of this gene is thought to be a pseudogene. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2014]

GeneCards Summary for CATSPER2 Gene

CATSPER2 (Cation Channel Sperm Associated 2) is a Protein Coding gene. Diseases associated with CATSPER2 include Deafness-Infertility Syndrome and Catsper-Related Male Infertility. Among its related pathways are Fertilization and Sweet Taste Signaling. GO annotations related to this gene include ion channel activity and voltage-gated ion channel activity. An important paralog of this gene is CATSPER4.

UniProtKB/Swiss-Prot for CATSPER2 Gene

  • Voltage-gated calcium channel that plays a central role in calcium-dependent physiological responses essential for successful fertilization, such as sperm hyperactivation, acrosome reaction and chemotaxis towards the oocyte.

Gene Wiki entry for CATSPER2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CATSPER2 Gene

Genomics for CATSPER2 Gene

Regulatory Elements for CATSPER2 Gene

Enhancers for CATSPER2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
- Elite enhancer/Elite enhancer-gene association

Enhancers around CATSPER2 on UCSC Golden Path with GeneCards custom track

Genomic Location for CATSPER2 Gene

Chromosome:
15
Start:
43,628,503 bp from pter
End:
43,668,118 bp from pter
Size:
39,616 bases
Orientation:
Minus strand

Genomic View for CATSPER2 Gene

Genes around CATSPER2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CATSPER2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CATSPER2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CATSPER2 Gene

Proteins for CATSPER2 Gene

  • Protein details for CATSPER2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96P56-CTSR2_HUMAN
    Recommended name:
    Cation channel sperm-associated protein 2
    Protein Accession:
    Q96P56
    Secondary Accessions:
    • Q8NHT9
    • Q96P54
    • Q96P55

    Protein attributes for CATSPER2 Gene

    Size:
    530 amino acids
    Molecular mass:
    62041 Da
    Quaternary structure:
    • Heterotetramer; possibly composed of CATSPER1, CATSPER2, CATSPER3 and CATSPER4 (Potential). Component of the CatSper complex. Interacts with Ca(v)3.3/CACNA1I, leading to suppress T-type calcium channel activity.

    Alternative splice isoforms for CATSPER2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CATSPER2 Gene

Post-translational modifications for CATSPER2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for CATSPER2 Gene

Domains & Families for CATSPER2 Gene

Gene Families for CATSPER2 Gene

Protein Domains for CATSPER2 Gene

Suggested Antigen Peptide Sequences for CATSPER2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q96P56

UniProtKB/Swiss-Prot:

CTSR2_HUMAN :
  • Belongs to the cation channel sperm-associated (TC 1.A.1.19) family.
Family:
  • Belongs to the cation channel sperm-associated (TC 1.A.1.19) family.
genes like me logo Genes that share domains with CATSPER2: view

Function for CATSPER2 Gene

Molecular function for CATSPER2 Gene

UniProtKB/Swiss-Prot EnzymeRegulation:
The CatSper calcium channel is indirectly activated by extracellular progesterone and prostaglandins following the sequence: progesterone > PGF1-alpha = PGE1 > PGA1 > PGE2 >> PGD2 (PubMed:21412338, PubMed:21412339, PubMed:26989199). The CatSper calcium channel is directly inhibited by endocannabinoid 2-arachidonoylglycerol (2AG) (PubMed:26989199). Indirect activation by progesterone takes place via the following mechanism: progesterone binds and activates the acylglycerol lipase ABHD2, which in turn mediates hydrolysis of 2AG inhibitor, relieving inhibition of the CatSper channel (PubMed:26989199). The primary effect of progesterone activation is to shift voltage dependence towards more physiological, negative membrane potentials; it is not mediated by metabotropic receptors and second messengers (PubMed:21412338, PubMed:21412339). Sperm capacitation enhances the effect of progesterone by providing additional negative shift. Also activated by the elevation of intracellular pH (PubMed:21412338, PubMed:21412339).
UniProtKB/Swiss-Prot Function:
Voltage-gated calcium channel that plays a central role in calcium-dependent physiological responses essential for successful fertilization, such as sperm hyperactivation, acrosome reaction and chemotaxis towards the oocyte.

Gene Ontology (GO) - Molecular Function for CATSPER2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005227 calcium activated cation channel activity IEA --
GO:0005245 voltage-gated calcium channel activity IBA --
GO:0005515 protein binding IPI 16740636
genes like me logo Genes that share ontologies with CATSPER2: view
genes like me logo Genes that share phenotypes with CATSPER2: view

Human Phenotype Ontology for CATSPER2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CATSPER2 Gene

MGI Knock Outs for CATSPER2:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targets and HOMER Transcription for CATSPER2 Gene

Localization for CATSPER2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CATSPER2 Gene

Cell projection, cilium, flagellum membrane; Multi-pass membrane protein. Note=Specifically located in the principal piece of sperm tail.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CATSPER2 Gene COMPARTMENTS Subcellular localization image for CATSPER2 gene
Compartment Confidence
plasma membrane 5
cytosol 2
mitochondrion 2
nucleus 2
peroxisome 1

Gene Ontology (GO) - Cellular Components for CATSPER2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0031514 motile cilium IEA --
GO:0036128 CatSper complex ISS --
genes like me logo Genes that share ontologies with CATSPER2: view

Pathways & Interactions for CATSPER2 Gene

genes like me logo Genes that share pathways with CATSPER2: view

Pathways by source for CATSPER2 Gene

3 Reactome pathways for CATSPER2 Gene
1 Qiagen pathway for CATSPER2 Gene

Interacting Proteins for CATSPER2 Gene

Gene Ontology (GO) - Biological Process for CATSPER2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007275 multicellular organism development IEA --
GO:0007283 spermatogenesis IEA --
GO:0030154 cell differentiation IEA --
GO:0030317 sperm motility IBA --
GO:0032570 response to progesterone TAS --
genes like me logo Genes that share ontologies with CATSPER2: view

No data available for SIGNOR curated interactions for CATSPER2 Gene

Drugs & Compounds for CATSPER2 Gene

(7) Drugs for CATSPER2 Gene - From: DGIdb, IUPHAR, and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Progesterone Approved, Vet_approved Pharma Full agonist, Activator, inhibitor Endogenous progesterone receptor agonist 515
Mibefradil Withdrawn Pharma Channel blocker, blocker Calcium channel blocker 3
NNC55-0396 Pharma Inhibition, Pore Blocker 0
PGE<sub>1</sub> Pharma Full agonist, Activator 0
PGE<sub>2</sub> Pharma Full agonist, Activator 0

(1) Additional Compounds for CATSPER2 Gene - From: IUPHAR

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
PGF<sub>1alpha</sub>
Full agonist, Activator
genes like me logo Genes that share compounds with CATSPER2: view

Transcripts for CATSPER2 Gene

Unigene Clusters for CATSPER2 Gene

Cation channel, sperm associated 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for CATSPER2 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14a · 14b
SP1: -
SP2: -
SP3: - -
SP4:
SP5:

Relevant External Links for CATSPER2 Gene

GeneLoc Exon Structure for
CATSPER2
ECgene alternative splicing isoforms for
CATSPER2

Expression for CATSPER2 Gene

mRNA expression in normal human tissues for CATSPER2 Gene

mRNA differential expression in normal tissues according to GTEx for CATSPER2 Gene

This gene is overexpressed in Brain - Cerebellum (x5.4), Testis (x5.1), and Brain - Cerebellar Hemisphere (x5.1).

Protein differential expression in normal tissues from HIPED for CATSPER2 Gene

This gene is overexpressed in Platelet (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CATSPER2 Gene



Protein tissue co-expression partners for CATSPER2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CATSPER2 Gene:

CATSPER2

SOURCE GeneReport for Unigene cluster for CATSPER2 Gene:

Hs.662284

mRNA Expression by UniProt/SwissProt for CATSPER2 Gene:

Q96P56-CTSR2_HUMAN
Tissue specificity: Testis-specific.
genes like me logo Genes that share expression patterns with CATSPER2: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for CATSPER2 Gene

Orthologs for CATSPER2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CATSPER2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia CATSPER2 34
  • 82.32 (n)
  • 76.52 (a)
CATSPER2 35
  • 68 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CATSPER2 34
  • 84.04 (n)
  • 78.38 (a)
CATSPER2 35
  • 77 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Catsper2 34
  • 77.55 (n)
  • 73.19 (a)
Catsper2 16
Catsper2 35
  • 61 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia LOC100609123 34
  • 99.37 (n)
  • 98.86 (a)
CATSPER2 35
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Catsper2 34
  • 73.31 (n)
  • 68.39 (a)
oppossum
(Monodelphis domestica)
Mammalia CATSPER2 35
  • 53 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CATSPER2 35
  • 51 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CATSPER2 35
  • 47 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 32 (a)
OneToOne
Species where no ortholog for CATSPER2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for CATSPER2 Gene

ENSEMBL:
Gene Tree for CATSPER2 (if available)
TreeFam:
Gene Tree for CATSPER2 (if available)

Paralogs for CATSPER2 Gene

Paralogs for CATSPER2 Gene

(2) SIMAP similar genes for CATSPER2 Gene using alignment to 6 proteins:

Pseudogenes.org Pseudogenes for CATSPER2 Gene

genes like me logo Genes that share paralogs with CATSPER2: view

Variants for CATSPER2 Gene

Sequence variations from dbSNP and Humsavar for CATSPER2 Gene

SNP ID Clin Chr 15 pos Sequence Context AA Info Type
VAR_033307 -
VAR_033308 -

Structural Variations from Database of Genomic Variants (DGV) for CATSPER2 Gene

Variant ID Type Subtype PubMed ID
dgv146n21 CNV loss 19592680
dgv2583n100 CNV loss 25217958
dgv2584n100 CNV gain+loss 25217958
dgv2585n100 CNV loss 25217958
dgv2586n100 CNV loss 25217958
dgv4501n54 CNV loss 21841781
dgv45e203 CNV gain+loss 21179565
dgv732e212 CNV loss 25503493
dgv733e212 CNV gain 25503493
dgv734e212 CNV loss 25503493
dgv735e212 CNV loss 25503493
esv24113 CNV gain+loss 19812545
esv2421427 CNV deletion 20811451
esv2749626 CNV deletion 23290073
esv2760028 CNV gain+loss 17122850
esv33424 CNV loss 17666407
esv3569487 CNV gain 25503493
esv3569520 CNV gain 25503493
esv3581654 CNV loss 25503493
esv3636294 CNV loss 21293372
esv3636295 CNV gain 21293372
esv3636296 CNV loss 21293372
esv3892682 CNV loss 25118596
esv3892683 CNV loss 25118596
nsv1039949 CNV gain 25217958
nsv1054620 CNV gain 25217958
nsv1070270 CNV deletion 25765185
nsv1160289 CNV deletion 26073780
nsv1514 CNV deletion 18451855
nsv428304 CNV loss 18775914
nsv433293 CNV loss 18776910
nsv437799 CNV loss 16327808
nsv524910 CNV loss 19592680
nsv569243 CNV gain 21841781
nsv569244 CNV gain+loss 21841781
nsv569247 CNV loss 21841781
nsv569249 CNV loss 21841781
nsv569250 CNV loss 21841781
nsv817690 CNV loss 17921354
nsv832988 CNV loss 17160897
nsv9251 CNV loss 18304495
nsv974569 CNV duplication 23825009

Variation tolerance for CATSPER2 Gene

Residual Variation Intolerance Score: 84.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.25; 76.27% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CATSPER2 Gene

Human Gene Mutation Database (HGMD)
CATSPER2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CATSPER2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CATSPER2 Gene

Disorders for CATSPER2 Gene

MalaCards: The human disease database

(4) MalaCards diseases for CATSPER2 Gene - From: ClinVar, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
deafness-infertility syndrome
  • sensorineural deafness and male infertility
catsper-related male infertility
infertility
male infertility
  • infertility male
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

CTSR2_HUMAN
  • Deafness-infertility syndrome (DIS) [MIM:611102]: Characterized by deafness and infertility and is caused by large contiguous gene deletions at 15q15.3 that removes both STRC and CATSPER2 genes. {ECO:0000269 PubMed:12825070, ECO:0000269 PubMed:17098888}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for CATSPER2

Genetic Association Database (GAD)
CATSPER2
Human Genome Epidemiology (HuGE) Navigator
CATSPER2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CATSPER2
genes like me logo Genes that share disorders with CATSPER2: view

No data available for Genatlas for CATSPER2 Gene

Publications for CATSPER2 Gene

  1. A voltage-gated ion channel expressed specifically in spermatozoa. (PMID: 11675491) Quill T.A. … Garbers D.L. (Proc. Natl. Acad. Sci. U.S.A. 2001) 2 3 4 22 65
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 65
  3. Association of Catsper1 or -2 with Ca(v)3.3 leads to suppression of T-type calcium channel activity. (PMID: 16740636) Zhang D. … Gopalakrishnan M. (J. Biol. Chem. 2006) 3 4 65
  4. International Union of Pharmacology. L. Nomenclature and structure-function relationships of CatSper and two-pore channels. (PMID: 16382101) Clapham D.E. … Garbers D.L. (Pharmacol. Rev. 2005) 2 3 65
  5. Unconventional endocannabinoid signaling governs sperm activation via the sex hormone progesterone. (PMID: 26989199) Miller M.R. … Lishko P.V. (Science 2016) 4 65

Products for CATSPER2 Gene

Sources for CATSPER2 Gene

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