This gene encodes a member of a family of cation channel proteins that localize to the flagellum of spermatozoa. Defects at this locus causes male infertility. Alternatively spliced transcript variants have been observed at this locus. Readthrough transcription originates upstream of this locus in diphosphoinositol pentakisphosphate kinase 1 pseudogene 1 and is represented by G... See more...

Aliases for CATSPER2 Gene

Aliases for CATSPER2 Gene

  • Cation Channel Sperm Associated 2 2 3 5
  • Cation Channel Sperm-Associated Protein 2 3 4
  • Cation Channel, Sperm Associated 2 2
  • Sperm Ion Channel 3
  • CATSPER2 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

  • This gene encodes a member of a family of cation channel proteins that localize to the flagellum of spermatozoa. Defects at this locus causes male infertility. Alternatively spliced transcript variants have been observed at this locus. Readthrough transcription originates upstream of this locus in diphosphoinositol pentakisphosphate kinase 1 pseudogene 1 and is represented by GeneID:110006325. Related pseudogenes are found next to this locus on chromosome 15 and on chromosome 5. [provided by RefSeq, Mar 2017]

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 Rare Genetic Deafness. Among its related pathways are Reproduction and Sweet Taste Signaling. Gene Ontology (GO) annotations related to this gene include ion channel activity and voltage-gated ion channel activity. An important paralog of this gene is SCN3A.

UniProtKB/Swiss-Prot Summary 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 CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CATSPER2 Gene

Genomics for CATSPER2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CATSPER2 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
GH15J043648 Promoter 0.7 EPDnew Ensembl 250.4 +18.6 18617 2.2 PDIA3P2 CATSPER2 PDIA3 ADAL ENSG00000249839 TGM7 STRCP1 ZSCAN29 TUBGCP4 piR-37972-217
GH15J043823 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 9.9 -158.0 -157969 5.8 BCLAF1 ZNF207 MYC IKZF1 NCOR1 ZNF600 SSRP1 ZNF580 ZNF592 KLF9 WDR76 MFAP1 CTDSPL2 ZSCAN29 SPG11 ADAL ENSG00000249839 HYPK CATSPER2P1 LCMT2
GH15J043808 Enhancer 0.9 Ensembl ENCODE 14.8 -141.1 -141124 2.3 ZNF207 BCL11A ZNF592 TRIM22 FOXA2 SMARCA5 BHLHE40 SPI1 ELF1 ZNF24 HSALNG0105537 ADAL STRCP1 CATSPER2 SERINC4 MFAP1
GH15J044192 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 5.8 -526.2 -526182 3.8 SP1 ZNF600 JUND ZNF580 ATF2 ZNF10 POLR2A ZIC2 NFIC ZBTB10 FRMD5 HSALNG0105544 HSALNG0105545 CTDSPL2 ZSCAN29 MFAP1 CATSPER2 STRCP1 ADAL RF00017-1589
GH15J043910 Enhancer 1.1 Ensembl ENCODE dbSUPER 11.2 -244.7 -244668 4.4 JUND CEBPB FEZF1 ZNF639 ZEB1 RFX5 PKNOX1 ZNF24 ZBTB21 BHLHE40 ADAL CATSPER2 HSALNG0105543 piR-32214-207 WDR76 FRMD5
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CATSPER2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CATSPER2

Top Transcription factor binding sites by QIAGEN in the CATSPER2 gene promoter:
  • AML1a
  • AP-2alpha
  • AP-2alphaA
  • AP-2beta
  • AP-2gamma
  • E47
  • FOXL1
  • Hand1
  • Pax-4a

Genomic Locations for CATSPER2 Gene

Latest Assembly
chr15:43,628,503-43,668,118
(GRCh38/hg38)
Size:
39,616 bases
Orientation:
Minus strand

Previous Assembly
chr15:43,920,701-43,941,082
(GRCh37/hg19 by Entrez Gene)
Size:
20,382 bases
Orientation:
Minus strand

chr15:43,920,701-43,960,316
(GRCh37/hg19 by Ensembl)
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

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Voltage-gated ion channels

Protein Domains for CATSPER2 Gene

Suggested Antigen Peptide Sequences for CATSPER2 Gene

GenScript: Design optimal peptide antigens:
  • Cation channel sperm-associated protein 2 (CTSR2_HUMAN)

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.
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 CATSPER2 Gene

Gene Ontology (GO) - Molecular Function for CATSPER2 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:0005262 calcium channel activity IEA --
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:

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CATSPER2

Clone products for research

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
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 CATSPER2 gene
Compartment Confidence
plasma membrane 5
mitochondrion 2
nucleus 2
cytosol 2
extracellular 1
cytoskeleton 1
peroxisome 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for CATSPER2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005929 cilium IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0031514 motile cilium IEA --
genes like me logo Genes that share ontologies with CATSPER2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CATSPER2 Gene

Pathways & Interactions for CATSPER2 Gene

PathCards logo

SuperPathways for CATSPER2 Gene

SuperPathway Contained pathways
1 Reproduction
2 Sweet Taste Signaling
.37
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
  • Sperm Motility

Gene Ontology (GO) - Biological Process for CATSPER2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport IEA --
GO:0006816 calcium ion transport IEA --
GO:0007275 multicellular organism development IEA --
GO:0007283 spermatogenesis IEA --
GO:0009566 fertilization IBA 21873635
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 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 CATSPER2: view

Transcripts for CATSPER2 Gene

mRNA/cDNA for CATSPER2 Gene

5 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
12 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 CATSPER2

Clone products for research

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

Expression for CATSPER2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CATSPER2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

  • Testis (Reproductive System)

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

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

Evidence on tissue expression from TISSUES for CATSPER2 Gene

  • Nervous system(4.4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CATSPER2 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • nervous
  • reproductive
Regions:
Head and neck:
  • brain
  • cranial nerve
  • ear
  • head
  • inner ear
Pelvis:
  • testicle
General:
  • peripheral nervous system
genes like me logo Genes that share expression patterns with CATSPER2: view

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 CATSPER2 29 30
  • 99.37 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia CATSPER2 29 30
  • 84.04 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia CATSPER2 29 30
  • 82.32 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Catsper2 29 16 30
  • 77.55 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Catsper2 29
  • 73.31 (n)
Oppossum
(Monodelphis domestica)
Mammalia CATSPER2 30
  • 53 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia CATSPER2 30
  • 51 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia CATSPER2 30
  • 47 (a)
OneToOne
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 32 (a)
OneToOne
Species where no ortholog for CATSPER2 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 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)
Aminode:
Evolutionary constrained regions (ECRs) for CATSPER2: view image
Alliance of Genome Resources:
Additional Orthologs for CATSPER2

Paralogs for CATSPER2 Gene

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

  • CTSR2_HUMAN
  • B8ZZQ9_HUMAN
  • E7EX46_HUMAN
  • F8W9H2_HUMAN
  • H7BZ89_HUMAN
  • H7C2X6_HUMAN

Pseudogenes.org Pseudogenes for CATSPER2 Gene

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

Variants for CATSPER2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CATSPER2 Gene

SNP ID Clinical significance and condition Chr 15 pos Variation AA Info Type
978009 Uncertain Significance: Male infertility 43,638,903(-) C/G
NM_172095.4(CATSPER2):c.842+1G>C
SPLICE_DONOR
rs146701338 Uncertain Significance: Infertility; not provided 43,636,142(-) C/G
NM_172095.4(CATSPER2):c.920G>C (p.Trp307Ser)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
rs199882327 Benign: not specified; Rare genetic deafness 43,632,937(-) T/G
NM_172095.4(CATSPER2):c.1179-3A>C
INTRON
rs377026307 Uncertain Significance: not provided 43,632,268(-) G/A
NM_172095.4(CATSPER2):c.1492C>T (p.Arg498Ter)
NONSENSE,NON_CODING_TRANSCRIPT
rs7167634 Benign: not specified 43,632,942(-) A/G
NM_172095.4(CATSPER2):c.1179-8T>C
INTRON

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for CATSPER2 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 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)

Additional Variant Information for CATSPER2 Gene

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

SNP Genotyping and Copy Number Assays for research

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

Disorders for CATSPER2 Gene

MalaCards: The human disease database

(11) MalaCards diseases for CATSPER2 Gene - From: CVR, GTR, ORP, COP, and GCD

Disorder Aliases PubMed IDs
deafness-infertility syndrome
  • dis
rare genetic deafness
  • rare genetic hearing loss
spermatogenic failure 7
  • spgf7
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 variants affecting the gene represented in this entry.

Additional Disease Information for CATSPER2

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 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 TA … Garbers DL (Proceedings of the National Academy of Sciences of the United States of America 2001) 2 3 4 22
  2. Sensorineural deafness and male infertility: a contiguous gene deletion syndrome. (PMID: 17098888) Zhang Y … Smith RJ (Journal of medical genetics 2007) 3 4 72
  3. Progesterone activates the principal Ca2+ channel of human sperm. (PMID: 21412339) Lishko PV … Kirichok Y (Nature 2011) 3 4
  4. The CatSper channel mediates progesterone-induced Ca2+ influx in human sperm. (PMID: 21412338) Strünker T … Kaupp UB (Nature 2011) 3 4
  5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 40

Products for CATSPER2 Gene

Sources for CATSPER2 Gene