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Aliases for CATSPER4 Gene

Aliases for CATSPER4 Gene

  • Cation Channel Sperm Associated 4 2 3 5
  • Cation Channel Sperm-Associated Protein 4 3
  • Cation Channel, Sperm Associated 4 2
  • Ion Channel CatSper4 3
  • CatSper4 4

External Ids for CATSPER4 Gene

Previous GeneCards Identifiers for CATSPER4 Gene

  • GC00U913195
  • GC01U900722
  • GC01P026121
  • GC01P026389
  • GC01P026517
  • GC01P024771

Summaries for CATSPER4 Gene

GeneCards Summary for CATSPER4 Gene

CATSPER4 (Cation Channel Sperm Associated 4) is a Protein Coding gene. Among its related pathways are Fertilization. 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 CATSPER3.

UniProtKB/Swiss-Prot for CATSPER4 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 CATSPER4 Gene

Additional gene information for CATSPER4 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CATSPER4 Gene

Genomics for CATSPER4 Gene

GeneHancer (GH) Regulatory Elements for CATSPER4 Gene

Promoters and enhancers for CATSPER4 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
GH01J026190 Promoter/Enhancer 1.2 EPDnew ENCODE 650.7 -0.1 -58 0.4 CTCF TEAD4 BACH1 REST ZEB2 ZIC2 RAD21 SP1 CTBP1 GLIS2 CATSPER4 CNKSR1
GH01J026348 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 7.1 +164.4 164372 12.2 HDGF PKNOX1 FOXA2 MLX ARNT ARID4B SIN3A DMAP1 YY1 ZNF143 CD52 UBXN11 CEP85 ARID1A CNKSR1 CRYBG2 RPL17P9 HMGN2 LIN28A DHDDS
GH01J026618 Enhancer 1.9 FANTOM5 Ensembl ENCODE dbSUPER 1.6 +429.8 429835 4 CLOCK FEZF1 DMAP1 IRF4 YY1 ZNF213 E2F8 ZNF416 ZNF143 ZNF548 ARID1A HMGN2 ACTG1P20 GPN2 LOC101928324 GPATCH3 AHDC1 RPL17P9 NPM1P39 ZNF593
GH01J026176 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE 0.4 -12.7 -12692 2.5 HDAC1 ELF3 PKNOX1 ATF1 ARID4B SIN3A GATA2 ATF7 THAP11 PHF21A CNKSR1 TRIM63 CATSPER4
GH01J026200 Enhancer 1.4 FANTOM5 Ensembl ENCODE 0.4 +11.1 11114 2.6 HDGF HNRNPUL1 PKNOX1 ATF1 ARNT POLR2B ZNF766 CBX5 GATA2 ATF7 CNKSR1 ARID1A HMGN2 SYF2 ENSG00000261349 TRIM63 RPL17P9 RSRP1 GPN2 LOC101928324
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CATSPER4 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CATSPER4 gene promoter:
  • Zic3
  • Nkx2-5
  • ATF
  • Zic1
  • POU3F2 (N-Oct-5b)
  • POU3F2 (N-Oct-5a)
  • POU3F2
  • E47
  • Hand1
  • STAT5A

Genomic Locations for CATSPER4 Gene

Genomic Locations for CATSPER4 Gene
chr1:26,190,561-26,202,968
(GRCh38/hg38)
Size:
12,408 bases
Orientation:
Plus strand
chr1:26,517,052-26,529,459
(GRCh37/hg19)
Size:
12,408 bases
Orientation:
Plus strand

Genomic View for CATSPER4 Gene

Genes around CATSPER4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CATSPER4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CATSPER4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CATSPER4 Gene

Proteins for CATSPER4 Gene

  • Protein details for CATSPER4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q7RTX7-CTSR4_HUMAN
    Recommended name:
    Cation channel sperm-associated protein 4
    Protein Accession:
    Q7RTX7
    Secondary Accessions:
    • A1A4W6
    • Q5VY71

    Protein attributes for CATSPER4 Gene

    Size:
    472 amino acids
    Molecular mass:
    54092 Da
    Quaternary structure:
    • Heterotetramer; possibly composed of CATSPER1, CATSPER2, CATSPER3 and CATSPER4 (Potential). Component of the CatSper complex. Interacts with CATSPER1 (By similarity).
    SequenceCaution:
    • Sequence=AAI28139.1; Type=Frameshift; Positions=21; Evidence={ECO:0000305}; Sequence=CAH71538.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for CATSPER4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CATSPER4 Gene

Post-translational modifications for CATSPER4 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CATSPER4 Gene

No data available for DME Specific Peptides for CATSPER4 Gene

Domains & Families for CATSPER4 Gene

Gene Families for CATSPER4 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Predicted membrane proteins
  • Transporters
  • Voltage-gated ion channels

Protein Domains for CATSPER4 Gene

Suggested Antigen Peptide Sequences for CATSPER4 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q7RTX7

UniProtKB/Swiss-Prot:

CTSR4_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 CATSPER4: view

Function for CATSPER4 Gene

Molecular function for CATSPER4 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 CATSPER4 Gene

Gene Ontology (GO) - Molecular Function for CATSPER4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005216 ion channel activity IEA --
GO:0005227 calcium activated cation channel activity IEA --
GO:0005244 voltage-gated ion channel activity IEA --
GO:0005245 voltage-gated calcium channel activity IEA --
GO:0005261 cation channel activity IBA --
genes like me logo Genes that share ontologies with CATSPER4: view
genes like me logo Genes that share phenotypes with CATSPER4: view

Animal Models for CATSPER4 Gene

MGI Knock Outs for CATSPER4:

Animal Model Products

  • Taconic Biosciences Mouse Models for CATSPER4

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CATSPER4

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for CATSPER4 Gene

Localization for CATSPER4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CATSPER4 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 CATSPER4 gene
Compartment Confidence
plasma membrane 5
peroxisome 2

Gene Ontology (GO) - Cellular Components for CATSPER4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001669 acrosomal vesicle IEA --
GO:0005886 plasma membrane IBA,TAS --
GO:0005929 cilium IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with CATSPER4: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CATSPER4 Gene

Pathways & Interactions for CATSPER4 Gene

SuperPathways for CATSPER4 Gene

SuperPathway Contained pathways
1 Fertilization
genes like me logo Genes that share pathways with CATSPER4: view

Pathways by source for CATSPER4 Gene

3 Reactome pathways for CATSPER4 Gene

Gene Ontology (GO) - Biological Process for CATSPER4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport IEA --
GO:0006814 sodium ion transport IEA --
GO:0006816 calcium ion transport IBA --
GO:0007275 multicellular organism development IEA --
GO:0007283 spermatogenesis IEA --
genes like me logo Genes that share ontologies with CATSPER4: view

No data available for SIGNOR curated interactions for CATSPER4 Gene

Drugs & Compounds for CATSPER4 Gene

(7) Drugs for CATSPER4 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, Agonist, Inhibition, Pore Blocker, inhibitor Endogenous progesterone receptor agonist 600
calcium Approved Nutra 0
Mibefradil Investigational, Withdrawn Pharma Channel blocker, Antagonist, Pore Blocker, Inhibition, blocker Calcium channel blocker 3
NNC55-0396 Pharma Inhibition, Pore Blocker 0
PGE<sub>1</sub> Pharma Full agonist, Activator, Agonist 0

(1) Additional Compounds for CATSPER4 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 CATSPER4: view

Transcripts for CATSPER4 Gene

mRNA/cDNA for CATSPER4 Gene

(3) REFSEQ mRNAs :
(3) Additional mRNA sequences :
(4) Selected AceView cDNA sequences:
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for CATSPER4 Gene

Cation channel, sperm associated 4:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CATSPER4

Alternative Splicing Database (ASD) splice patterns (SP) for CATSPER4 Gene

No ASD Table

Relevant External Links for CATSPER4 Gene

GeneLoc Exon Structure for
CATSPER4
ECgene alternative splicing isoforms for
CATSPER4

Expression for CATSPER4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CATSPER4 Gene

mRNA differential expression in normal tissues according to GTEx for CATSPER4 Gene

This gene is overexpressed in Testis (x47.6).

Protein differential expression in normal tissues from HIPED for CATSPER4 Gene

This gene is overexpressed in Platelet (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CATSPER4 Gene



Protein tissue co-expression partners for CATSPER4 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CATSPER4 Gene:

CATSPER4

SOURCE GeneReport for Unigene cluster for CATSPER4 Gene:

Hs.123532

mRNA Expression by UniProt/SwissProt for CATSPER4 Gene:

Q7RTX7-CTSR4_HUMAN
Tissue specificity: Testis-specific.
genes like me logo Genes that share expression patterns with CATSPER4: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for CATSPER4 Gene

Orthologs for CATSPER4 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CATSPER4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CATSPER4 34 33
  • 99.64 (n)
OneToOne
cow
(Bos Taurus)
Mammalia CATSPER4 34 33
  • 83.62 (n)
OneToOne
dog
(Canis familiaris)
Mammalia CATSPER4 34 33
  • 82.81 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Catsper4 16 34 33
  • 77.7 (n)
rat
(Rattus norvegicus)
Mammalia Catsper4 33
  • 77.5 (n)
oppossum
(Monodelphis domestica)
Mammalia CATSPER4 34
  • 64 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CATSPER4 34
  • 62 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CATSPER4 34
  • 49 (a)
OneToOne
Species where no ortholog for CATSPER4 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 squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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 CATSPER4 Gene

ENSEMBL:
Gene Tree for CATSPER4 (if available)
TreeFam:
Gene Tree for CATSPER4 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CATSPER4: view image

Paralogs for CATSPER4 Gene

Paralogs for CATSPER4 Gene

(1) SIMAP similar genes for CATSPER4 Gene using alignment to 2 proteins:

  • CTSR4_HUMAN
  • J3KNU1_HUMAN
genes like me logo Genes that share paralogs with CATSPER4: view

Variants for CATSPER4 Gene

Sequence variations from dbSNP and Humsavar for CATSPER4 Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs144314289 uncertain-significance, not specified 26,188,241(+) C/T upstream_transcript_variant
rs1000049738 -- 26,201,708(+) G/T downstream_transcript_variant, genic_downstream_transcript_variant, intron_variant
rs1000247849 -- 26,196,850(+) G/A intron_variant
rs1000335079 -- 26,193,215(+) C/G intron_variant
rs1001057111 -- 26,199,638(+) A/G genic_downstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for CATSPER4 Gene

Variant ID Type Subtype PubMed ID
esv3577792 CNV loss 25503493
esv3577794 CNV loss 25503493
nsv1002191 CNV gain 25217958

Variation tolerance for CATSPER4 Gene

Residual Variation Intolerance Score: 94.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.89; 87.07% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CATSPER4 Gene

Human Gene Mutation Database (HGMD)
CATSPER4
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CATSPER4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CATSPER4 Gene

Disorders for CATSPER4 Gene

Additional Disease Information for CATSPER4

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for CATSPER4 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for CATSPER4 Gene

Publications for CATSPER4 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 58
  2. The role of height-associated loci identified in genome wide association studies in the determination of pediatric stature. (PMID: 20546612) Zhao J … Grant SF (BMC medical genetics 2010) 3 44 58
  3. Meta-analysis of genome-wide scans for human adult stature identifies novel Loci and associations with measures of skeletal frame size. (PMID: 19343178) Soranzo N … Deloukas P (PLoS genetics 2009) 3 44 58
  4. 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 58
  5. International Union of Pharmacology. L. Nomenclature and structure-function relationships of CatSper and two-pore channels. (PMID: 16382101) Clapham DE … Garbers DL (Pharmacological reviews 2005) 2 3 58

Products for CATSPER4 Gene

Sources for CATSPER4 Gene

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