Aliases for CATSPER4 Gene

Aliases for CATSPER4 Gene

  • Cation Channel Sperm Associated 4 2 3 5
  • Cation Channel Sperm-Associated Protein 4 3 4
  • Cation Channel, Sperm Associated 4 2
  • Ion Channel CatSper4 3
  • CATSPER4 5
  • 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. Diseases associated with CATSPER4 include Aleutian Mink Disease and Vas Deferens, Congenital Bilateral Aplasia Of. 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 SCN5A.

UniProtKB/Swiss-Prot Summary 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

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CATSPER4 Gene

Genomics for CATSPER4 Gene

GeneHancer (GH) Regulatory Elements Pubs

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 Ensembl ENCODE 250.7 +0.7 739 1 IKZF1 ZIC2 REST CTCF SMC3 TEAD3 RAD21 TAF1 ZBTB33 NR2F6 CATSPER4 CNKSR1 ZPLD2P CEP85
GH01J026191 Enhancer 0.5 Ensembl 250.7 +1.7 1739 0.6 CBFB TCF7 IKZF1 EED RUNX3 CATSPER4 TRIM63 ZPLD2P CEP85
GH01J026348 Promoter/Enhancer 1.9 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 7.1 +165.0 164953 12.2 IKZF1 SSRP1 ZMYM3 CEBPA ATF3 BRCA1 ZIC2 NFIC CHD4 YY1 CD52 UBXN11 CEP85 CNKSR1 CRYBG2 LIN28A DHDDS SLC30A2 TRIM63 EXTL1
GH01J026618 Promoter/Enhancer 2.1 FANTOM5 ENCODE CraniofacialAtlas dbSUPER 1.6 +430.4 430396 3.9 SP1 ZNF207 NCOR1 MYC IKZF1 ZNF600 ZNF580 ZNF592 ZMYM3 ATF2 HSALNG0001912 HSALNG0001913 ARID1A ACTG1P20 HMGN2 GPN2 GPATCH3 DHDDS-AS1 NPM1P39 RPL17P9
GH01J026176 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 0.4 -12.0 -12047 2.6 POLR2A ZIC2 ZNF217 THAP11 CTBP1 SAP130 ETV4 YY1 GABPB1 TEAD3 CNKSR1 piR-32214-024 TRIM63 NONHSAG000756.2 CATSPER4
- 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 the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CATSPER4

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

Genomic Locations for CATSPER4 Gene

Latest Assembly
chr1:26,189,962-26,202,968
(GRCh38/hg38)
Size:
13,007 bases
Orientation:
Plus strand

Previous Assembly
chr1:26,517,093-26,529,455
(GRCh37/hg19 by Entrez Gene)
Size:
12,363 bases
Orientation:
Plus strand

chr1:26,517,052-26,529,459
(GRCh37/hg19 by Ensembl)
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; 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:
  • Cation channel sperm-associated protein 4 (CTSR4_HUMAN)

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 IBA 21873635
GO:0005262 calcium channel activity IEA --
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 Models for research

  • Taconic Biosciences Mouse Models for CATSPER4

Inhibitory RNAs for research

  • 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 1

Gene Ontology (GO) - Cellular Components for CATSPER4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001669 acrosomal vesicle IBA 21873635
GO:0005886 plasma membrane 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

PathCards logo

SuperPathways for CATSPER4 Gene

SuperPathway Contained pathways
1 Reproduction
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 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 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 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 CATSPER4: view

Transcripts for CATSPER4 Gene

mRNA/cDNA for CATSPER4 Gene

1 REFSEQ mRNAs :
4 NCBI additional mRNA sequence :
3 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 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

Expression for CATSPER4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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

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

Primer products for research

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 29 30
  • 99.64 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia CATSPER4 29 30
  • 83.62 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia CATSPER4 29 30
  • 82.81 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Catsper4 29 16 30
  • 77.7 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Catsper4 29
  • 77.5 (n)
Oppossum
(Monodelphis domestica)
Mammalia CATSPER4 30
  • 64 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia CATSPER4 30
  • 62 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia CATSPER4 30
  • 49 (a)
OneToOne
Species where no ortholog for CATSPER4 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)
  • 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 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
Alliance of Genome Resources:
Additional Orthologs for CATSPER4

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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CATSPER4 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
rs141342547 Benign: not provided 26,201,405(+) G/A
NM_198137.2(CATSPER4):c.1251G>A (p.Glu417=)
SYNONYMOUS
rs17163663 Benign: not provided 26,198,363(+) C/T
NM_198137.2(CATSPER4):c.756C>T (p.Tyr252=)
SYNONYMOUS
rs76551600 Benign: not provided 26,200,877(+) T/C
NM_198137.2(CATSPER4):c.1035T>C (p.His345=)
SYNONYMOUS
rs945217788 Not Provided: not provided 26,197,749(+) G/T
NM_198137.1(CATSPER4):c.523G>T (p.Glu175Ter)
NONSENSE
rs11247866 -- p.Gln77Arg

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for CATSPER4 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 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
Leiden Open Variation Database (LOVD)
CATSPER4

SNP Genotyping and Copy Number Assays for research

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

Disorders for CATSPER4 Gene

MalaCards: The human disease database

(2) MalaCards diseases for CATSPER4 Gene - From: COP

Disorder Aliases PubMed IDs
aleutian mink disease
  • aleutian disease
vas deferens, congenital bilateral aplasia of
  • cbavd
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for CATSPER4

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with CATSPER4: view

No data available for 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
  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 40
  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 40
  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
  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

Products for CATSPER4 Gene

  • Biorbyt antibodies for CATSPER4

Sources for CATSPER4 Gene