Aliases for CATSPER3 Gene

Aliases for CATSPER3 Gene

  • Cation Channel Sperm Associated 3 2 3 5
  • Cation Channel Sperm-Associated Protein 3 3 4
  • One-Repeat Calcium Channel-Like Protein 3 4
  • Ca(V)-Like Protein 3 4
  • CACRC 2 3
  • Calcium Channel Repeat Containing 1 3
  • Cation Channel, Sperm Associated 3 2
  • Putative Ion Channel CatSper3 3
  • CATSPER3 5
  • CatSper3 4

External Ids for CATSPER3 Gene

Previous GeneCards Identifiers for CATSPER3 Gene

  • GC05P134334
  • GC05P134379
  • GC05P134331
  • GC05P129491

Summaries for CATSPER3 Gene

GeneCards Summary for CATSPER3 Gene

CATSPER3 (Cation Channel Sperm Associated 3) is a Protein Coding gene. Diseases associated with CATSPER3 include Oligoasthenoteratozoospermia. Among its related pathways are Reproduction. Gene Ontology (GO) annotations related to this gene include ion channel activity and calcium activated cation channel activity. An important paralog of this gene is SCN3A.

UniProtKB/Swiss-Prot Summary for CATSPER3 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 CATSPER3 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CATSPER3 Gene

Genomics for CATSPER3 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CATSPER3 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH05J134901 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 250.2 -63.5 -63499 5.6 BCLAF1 ZNF654 ZNF207 MYC IKZF1 ZNF600 SSRP1 ZNF580 ZNF592 ZMYM3 PCBD2 ENSG00000279799 HSALNG0044999 HSALNG0045000 CATSPER3 TXNDC15 JADE2 EPIST lnc-PCBD2-1 RF00017-4433
GH05J134967 Promoter 0.3 EPDnew 250.7 0.0 -19 0.1 CATSPER3 HSALNG0045004 PCBD2 RF00017-4433
GH05J134410 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 10.7 -553.2 -553194 8.6 BCLAF1 ZNF207 IKZF1 MYC ZNF580 ZNF592 POLR2A CEBPA ZNF223 ZNF10 CDKN2AIPNL HSALNG0044966 DDX46 RNU6-456P JADE2 CATSPER3 CDKL3 PITX1-AS1 C5orf24 SKP1
GH05J134757 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 10.8 -208.7 -208682 2.8 BCLAF1 SP1 ZNF207 MYC ZNF600 SIX5 ZNF580 ZNF592 KLF9 POLR2A DDX46 PITX1-AS1 SEC24A CATSPER3 C5orf15 RF00017-4433 C5orf24
GH05J134508 Promoter/Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 10.7 -457.1 -457083 4.6 ZNF600 SSRP1 JUND ZMYM3 CEBPA ATF3 POLR2A ZBTB10 YY1 CEBPB C5orf24 DDX46 RPS10P11 CDKN2AIPNL ENSG00000248559 CATSPER3 LINC01843 CAMLG RF00017-4426 JADE2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CATSPER3 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CATSPER3

Top Transcription factor binding sites by QIAGEN in the CATSPER3 gene promoter:
  • AREB6
  • CUTL1
  • FOXO4
  • GATA-1
  • ISGF-3
  • Lhx3a
  • LHX3b
  • Pbx1a
  • POU3F2
  • RP58

Genomic Locations for CATSPER3 Gene

Latest Assembly
chr5:134,967,907-135,011,696
(GRCh38/hg38)
Size:
43,790 bases
Orientation:
Plus strand

Previous Assembly
chr5:134,303,597-134,347,386
(GRCh37/hg19 by Entrez Gene)
Size:
43,790 bases
Orientation:
Plus strand

chr5:134,303,596-134,347,392
(GRCh37/hg19 by Ensembl)
Size:
43,797 bases
Orientation:
Plus strand

Genomic View for CATSPER3 Gene

Genes around CATSPER3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CATSPER3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CATSPER3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CATSPER3 Gene

Proteins for CATSPER3 Gene

  • Protein details for CATSPER3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q86XQ3-CTSR3_HUMAN
    Recommended name:
    Cation channel sperm-associated protein 3
    Protein Accession:
    Q86XQ3
    Secondary Accessions:
    • Q86XS6

    Protein attributes for CATSPER3 Gene

    Size:
    398 amino acids
    Molecular mass:
    46422 Da
    Quaternary structure:
    • Heterotetramer; possibly composed of CATSPER1, CATSPER2, CATSPER3 and CATSPER4 (Potential). Component of the CatSper complex. Interacts with CATSPER1 (By similarity).

neXtProt entry for CATSPER3 Gene

Post-translational modifications for CATSPER3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CATSPER3 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CATSPER3 Gene

Domains & Families for CATSPER3 Gene

Gene Families for CATSPER3 Gene

Protein Domains for CATSPER3 Gene

Suggested Antigen Peptide Sequences for CATSPER3 Gene

GenScript: Design optimal peptide antigens:
  • One-repeat calcium channel-like protein (CTSR3_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q86XQ3

UniProtKB/Swiss-Prot:

CTSR3_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 CATSPER3: view

Function for CATSPER3 Gene

Molecular function for CATSPER3 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.
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).

Phenotypes From GWAS Catalog for CATSPER3 Gene

Gene Ontology (GO) - Molecular Function for CATSPER3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005216 ion channel activity IEA --
GO:0005244 voltage-gated ion channel activity IEA --
GO:0005245 voltage-gated calcium channel activity IEA,IBA 21873635
GO:0005262 calcium channel activity IEA --
genes like me logo Genes that share ontologies with CATSPER3: view
genes like me logo Genes that share phenotypes with CATSPER3: view

Animal Models for CATSPER3 Gene

MGI Knock Outs for CATSPER3:

Animal Models for research

  • Taconic Biosciences Mouse Models for CATSPER3

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CATSPER3

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for CATSPER3 Gene

Localization for CATSPER3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CATSPER3 Gene

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

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CATSPER3 gene
Compartment Confidence
plasma membrane 5
endoplasmic reticulum 2
extracellular 1
cytoskeleton 1
mitochondrion 1
nucleus 1

Gene Ontology (GO) - Cellular Components for CATSPER3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001669 acrosomal vesicle IEA,IBA 21873635
GO:0005783 endoplasmic reticulum IEA --
GO:0005886 plasma membrane TAS --
GO:0005929 cilium IEA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with CATSPER3: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CATSPER3 Gene

Pathways & Interactions for CATSPER3 Gene

PathCards logo

SuperPathways for CATSPER3 Gene

SuperPathway Contained pathways
1 Reproduction
genes like me logo Genes that share pathways with CATSPER3: view

Pathways by source for CATSPER3 Gene

3 Reactome pathways for CATSPER3 Gene

Gene Ontology (GO) - Biological Process for CATSPER3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport IEA --
GO:0006814 sodium ion transport IEA,IBA 21873635
GO:0006816 calcium ion transport IEA --
GO:0007275 multicellular organism development IEA --
GO:0007283 spermatogenesis IEA --
genes like me logo Genes that share ontologies with CATSPER3: view

No data available for SIGNOR curated interactions for CATSPER3 Gene

Drugs & Compounds for CATSPER3 Gene

(7) Drugs for CATSPER3 Gene - From: DGIdb, IUPHAR, and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Progesterone Approved, Vet_approved Pharma Activator, Full agonist, inhibitor Endogenous progesterone receptor agonist 805
Mibefradil Investigational, Withdrawn Pharma Pore Blocker, Inhibition, blocker Calcium channel blocker 3
NNC55-0396 Pharma Pore Blocker, Inhibition 0
PGE<sub>1</sub> Pharma Activator, Full agonist 0
PGE<sub>2</sub> Pharma Activator, Full agonist 0
genes like me logo Genes that share compounds with CATSPER3: view

Transcripts for CATSPER3 Gene

mRNA/cDNA for CATSPER3 Gene

1 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CATSPER3

Alternative Splicing Database (ASD) splice patterns (SP) for CATSPER3 Gene

No ASD Table

Relevant External Links for CATSPER3 Gene

GeneLoc Exon Structure for
CATSPER3

Expression for CATSPER3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CATSPER3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CATSPER3 Gene

This gene is overexpressed in Testis (x21.6).

Protein differential expression in normal tissues from HIPED for CATSPER3 Gene

This gene is overexpressed in Cerebrospinal fluid (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CATSPER3 Gene



Protein tissue co-expression partners for CATSPER3 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CATSPER3

SOURCE GeneReport for Unigene cluster for CATSPER3 Gene:

Hs.631804

mRNA Expression by UniProt/SwissProt for CATSPER3 Gene:

Q86XQ3-CTSR3_HUMAN
Tissue specificity: Testis-specific.

Evidence on tissue expression from TISSUES for CATSPER3 Gene

  • Nervous system(4.1)
genes like me logo Genes that share expression patterns with CATSPER3: view

Primer products for research

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for CATSPER3 Gene

Orthologs for CATSPER3 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CATSPER3 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia CATSPER3 29 30
  • 99.58 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia CATSPER3 29 30
  • 82.91 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia CATSPER3 29 30
  • 80.74 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Catsper3 29 16 30
  • 74.08 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Catsper3 29
  • 73.33 (n)
Oppossum
(Monodelphis domestica)
Mammalia CATSPER3 30
  • 55 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia CATSPER3 30
  • 47 (a)
OneToOne
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 35 (a)
OneToOne
Species where no ortholog for CATSPER3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • 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 CATSPER3 Gene

ENSEMBL:
Gene Tree for CATSPER3 (if available)
TreeFam:
Gene Tree for CATSPER3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CATSPER3: view image
Alliance of Genome Resources:
Additional Orthologs for CATSPER3

Paralogs for CATSPER3 Gene

Variants for CATSPER3 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CATSPER3 Gene

SNP ID Clinical significance and condition Chr 05 pos Variation AA Info Type
rs140770176 Benign: not provided 135,010,483(+) C/T
NM_178019.3(CATSPER3):c.1047C>T (p.Ile349=)
SYNONYMOUS
rs3896260 -- p.Asn204Lys

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for CATSPER3 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for CATSPER3 Gene

Variant ID Type Subtype PubMed ID
nsv5013 CNV insertion 18451855
nsv519879 CNV loss 19592680
nsv830494 CNV gain+loss 17160897

Variation tolerance for CATSPER3 Gene

Residual Variation Intolerance Score: 89.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.58; 56.12% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CATSPER3 Gene

Human Gene Mutation Database (HGMD)
CATSPER3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CATSPER3
Leiden Open Variation Database (LOVD)
CATSPER3

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CATSPER3 Gene

Disorders for CATSPER3 Gene

MalaCards: The human disease database

(1) MalaCards diseases for CATSPER3 Gene - From: COP

Disorder Aliases PubMed IDs
oligoasthenoteratozoospermia
  • oat
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for CATSPER3

genes like me logo Genes that share disorders with CATSPER3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CATSPER3 Gene

Publications for CATSPER3 Gene

  1. Identification of human and mouse CatSper3 and CatSper4 genes: characterisation of a common interaction domain and evidence for expression in testis. (PMID: 12932298) Lobley A … Michalovich D (Reproductive biology and endocrinology : RB&E 2003) 2 3 4 22
  2. Cloning of a novel one-repeat calcium channel-like gene. (PMID: 12646162) Arias JM … Perez-Reyes E (Biochemical and biophysical research communications 2003) 2 3 4
  3. Many sequence variants affecting diversity of adult human height. (PMID: 18391951) Gudbjartsson DF … Stefansson K (Nature genetics 2008) 3 40
  4. Expression of CatSper family transcripts in the mouse testis during post-natal development and human ejaculated spermatozoa: relationship to sperm motility. (PMID: 17347248) Li HG … Xiong CL (Molecular human reproduction 2007) 4 22
  5. All four CatSper ion channel proteins are required for male fertility and sperm cell hyperactivated motility. (PMID: 17227845) Qi H … Clapham DE (Proceedings of the National Academy of Sciences of the United States of America 2007) 2 3

Products for CATSPER3 Gene

Sources for CATSPER3 Gene