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Aliases for CATSPER2 Gene

Aliases for CATSPER2 Gene

  • Cation Channel Sperm Associated 2 2 3
  • Cation Channel, Sperm Associated 2 2 5
  • 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 Reproduction 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 CATSPER3.

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. Activated by extracellular progesterone and prostaglandins following the sequence: progesterone > PGF1-alpha = PGE1 > PGA1 > PGE2 >> PGD2. 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. Sperm capacitation enhances the effect of progesterone by providing additional negative shift. Also activated by the elevation of intracellular pH.

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

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

Proteomics data for CATSPER2 Gene at MOPED

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 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. Activated by extracellular progesterone and prostaglandins following the sequence: progesterone > PGF1-alpha = PGE1 > PGA1 > PGE2 >> PGD2. 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. Sperm capacitation enhances the effect of progesterone by providing additional negative shift. Also activated by the elevation of intracellular pH.
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

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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

No data available for Gene Ontology (GO) - Cellular Components for CATSPER2 Gene

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

Selected Interacting proteins: Q96P56-CTSR2_HUMAN for CATSPER2 Gene via UniProtKB I2D

Symbol External ID(s) Details
CACNA1I

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:0007338 single fertilization TAS --
GO:0030154 cell differentiation IEA --
GO:0030317 sperm motility IEA,IBA --
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: IUPHAR, DGIdb, and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Progesterone Approved Pharma Full agonist, Activator, inhibitor Endogenous progesterone receptor agonist 500
Mibefradil Withdrawn Pharma Channel blocker, 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:

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



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

Protein tissue co-expression partners for CATSPER2 Gene

- Elite partner

Primer Products

In Situ Assay 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
chimpanzee
(Pan troglodytes)
Mammalia LOC100609123 35
  • 99.37 (n)
  • 98.86 (a)
CATSPER2 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CATSPER2 36
  • 68 (a)
OneToOne
CATSPER2 35
  • 82.32 (n)
  • 76.52 (a)
dog
(Canis familiaris)
Mammalia CATSPER2 35
  • 84.04 (n)
  • 78.38 (a)
CATSPER2 36
  • 77 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Catsper2 16
Catsper2 36
  • 61 (a)
OneToOne
Catsper2 35
  • 77.55 (n)
  • 73.19 (a)
oppossum
(Monodelphis domestica)
Mammalia CATSPER2 36
  • 53 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CATSPER2 36
  • 51 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Catsper2 35
  • 73.31 (n)
  • 68.39 (a)
lizard
(Anolis carolinensis)
Reptilia CATSPER2 36
  • 47 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 32 (a)
OneToOne
Species with no ortholog for CATSPER2:
  • 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
nsv437799 CNV Loss 16327808
nsv832988 CNV Loss 17160897
nsv428304 CNV Loss 18775914
dgv741e1 CNV Complex 17122850
dgv742e1 CNV Complex 17122850
nsv524910 CNV Loss 19592680
dgv2370n71 CNV Gain 21882294
dgv2371n71 CNV Gain 21882294
dgv2372n71 CNV Gain 21882294
nsv904151 CNV Gain 21882294
dgv2373n71 CNV Loss 21882294
nsv904153 CNV Gain+Loss 21882294
esv24113 CNV Gain+Loss 19812545
nsv1514 CNV Loss 18451855
esv2421427 CNV Deletion 20811451
esv33424 CNV Loss 17666407
dgv2374n71 CNV Loss 21882294
dgv743e1 CNV Complex 17122850
esv2749626 CNV Deletion 23290073
nsv433293 CNV Loss 18776910
nsv904169 CNV Gain 21882294
dgv2375n71 CNV Gain 21882294
nsv9251 CNV Loss 18304495
dgv146n21 CNV Loss 19592680
nsv817690 CNV Loss 17921354
nsv904172 CNV Loss 21882294

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

HapMap Linkage Disequilibrium report
CATSPER2
Human Gene Mutation Database (HGMD)
CATSPER2

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

Disorders for CATSPER2 Gene

MalaCards: The human disease database

(5) MalaCards diseases for CATSPER2 Gene - From: GeneTests, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
deafness-infertility syndrome
  • sensorineural deafness and male infertility
catsper-related male infertility
deafness, autosomal recessive 93
  • deafness, autosomal recessive, 93
infertility
male reproductive system disease
  • genital diseases, 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 23 67
  2. 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
  3. Levels of Tektin 2 and CatSper 2 in normozoospermic and oligoasthenozoospermic men and its association with motility, fertilization rate, embryo quality and pregnancy rate. (PMID: 23519396) Bhilawadikar R. … Hinduja I. (J. Assist. Reprod. Genet. 2013) 3
  4. 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
  5. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PMID: 17207965) Lamesch P. … Vidal M. (Genomics 2007) 3

Products for CATSPER2 Gene

Sources for CATSPER2 Gene

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