Human Gene CATSPER2 (ENST00000396879.8_13) from GENCODE V47lift37
  Description: cation channel sperm associated 2, transcript variant 2 (from RefSeq NM_172095.4)
Gencode Transcript: ENST00000396879.8_13
Gencode Gene: ENSG00000166762.19_17
Transcript (Including UTRs)
   Position: hg19 chr15:43,920,701-43,941,042 Size: 20,342 Total Exon Count: 13 Strand: -
Coding Region
   Position: hg19 chr15:43,922,899-43,940,259 Size: 17,361 Coding Exon Count: 12 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesGeneReviewsModel Information
Methods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr15:43,920,701-43,941,042)mRNA (may differ from genome)Protein (530 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
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UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: CTSR2_HUMAN
DESCRIPTION: RecName: Full=Cation channel sperm-associated protein 2; Short=CatSper2;
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.
SUBUNIT: 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.
INTERACTION: Q9P0X4:CACNA1I; NbExp=3; IntAct=EBI-2215024, EBI-1220829;
SUBCELLULAR LOCATION: Cell projection, cilium, flagellum membrane; Multi-pass membrane protein (By similarity). Note=Specifically located in the principal piece of sperm tail.
TISSUE SPECIFICITY: Testis-specific.
DISEASE: Defects in CATSPER2 are a cause of deafness-infertility syndrome (DIS) [MIM:611102]. DIS is characterized by deafness and infertility and is caused by large contiguous gene deletions at 15q15.3 that removes both STRC and CATSPER2 genes.
SIMILARITY: Belongs to the cation channel sperm-associated (TC 1.A.1.19) family.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: CATSPER2
Diseases sorted by gene-association score: deafness-infertility syndrome* (453), infertility (14), male infertility (11)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 11.27 RPKM in Testis
Total median expression: 77.52 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -91.90218-0.422 Picture PostScript Text
3' UTR -623.502198-0.284 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR005821 - Ion_trans_dom

Pfam Domains:
PF00520 - Ion transport protein

SCOP Domains:
81324 - Voltage-gated potassium channels

ModBase Predicted Comparative 3D Structure on Q96P56
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005216 ion channel activity
GO:0005227 calcium activated cation channel activity
GO:0005244 voltage-gated ion channel activity
GO:0005248 voltage-gated sodium channel activity
GO:0005262 calcium channel activity
GO:0005515 protein binding

Biological Process:
GO:0006811 ion transport
GO:0006816 calcium ion transport
GO:0007275 multicellular organism development
GO:0007283 spermatogenesis
GO:0019228 neuronal action potential
GO:0030154 cell differentiation
GO:0030317 flagellated sperm motility
GO:0034765 regulation of ion transmembrane transport
GO:0035036 sperm-egg recognition
GO:0035725 sodium ion transmembrane transport
GO:0055085 transmembrane transport
GO:0070588 calcium ion transmembrane transport
GO:0086010 membrane depolarization during action potential

Cellular Component:
GO:0005886 plasma membrane
GO:0005929 cilium
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0031514 motile cilium
GO:0036128 CatSper complex
GO:0042995 cell projection


-  Descriptions from all associated GenBank mRNAs
  AK296993 - Homo sapiens cDNA FLJ58544 complete cds, highly similar to Stereocilin precursor.
BC064387 - Homo sapiens cation channel, sperm associated 2, mRNA (cDNA clone MGC:74466 IMAGE:5744415), complete cds.
AK093318 - Homo sapiens cDNA FLJ35999 fis, clone TESTI2015105.
AX748052 - Sequence 1577 from Patent EP1308459.
AK122607 - Homo sapiens cDNA FLJ16016 fis, clone TESTI2002036, highly similar to Homo sapiens cation channel, sperm associated 2 (CATSPER2), transcript variant 1, mRNA.
BX648099 - Homo sapiens mRNA; cDNA DKFZp686K0327 (from clone DKFZp686K0327).
JD450555 - Sequence 431579 from Patent EP1572962.
AF411817 - Homo sapiens putative ion channel protein CATSPER2 variant 1 mRNA, complete cds.
AF411818 - Homo sapiens putative ion channel protein CATSPER2 variant 2 mRNA, complete cds.
AF411819 - Homo sapiens putative ion channel protein CATSPER2 variant 3 mRNA, complete cds.
JD437452 - Sequence 418476 from Patent EP1572962.
JD504384 - Sequence 485408 from Patent EP1572962.
JD206776 - Sequence 187800 from Patent EP1572962.
BC028728 - Homo sapiens cation channel, sperm associated 2, mRNA (cDNA clone IMAGE:4828636), complete cds.
JD532969 - Sequence 513993 from Patent EP1572962.
JD209017 - Sequence 190041 from Patent EP1572962.
JD323310 - Sequence 304334 from Patent EP1572962.
HQ448354 - Synthetic construct Homo sapiens clone IMAGE:100071778; CCSB008699_01 cation channel, sperm associated 2 (CATSPER2) gene, encodes complete protein.
KJ900048 - Synthetic construct Homo sapiens clone ccsbBroadEn_09442 CATSPER2 gene, encodes complete protein.
CU688558 - Synthetic construct Homo sapiens gateway clone IMAGE:100020226 5' read CATSPER2 mRNA.
DQ592285 - Homo sapiens piRNA piR-59397, complete sequence.
DQ655952 - Homo sapiens clone UGL17a09, mRNA sequence.
JD184789 - Sequence 165813 from Patent EP1572962.
JD540891 - Sequence 521915 from Patent EP1572962.
JD544111 - Sequence 525135 from Patent EP1572962.
JD484943 - Sequence 465967 from Patent EP1572962.
JD487770 - Sequence 468794 from Patent EP1572962.
JD545932 - Sequence 526956 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q96P56 (Reactome details) participates in the following event(s):

R-HSA-2534388 Progesterone Activation Of CatSper
R-HSA-2534359 CatSper Channel Mediated Calcium Transport
R-HSA-1300642 Sperm Motility And Taxes
R-HSA-1187000 Fertilization
R-HSA-1474165 Reproduction

-  Other Names for This Gene
  Alternate Gene Symbols: CTSR2_HUMAN, ENST00000396879.1, ENST00000396879.2, ENST00000396879.3, ENST00000396879.4, ENST00000396879.5, ENST00000396879.6, ENST00000396879.7, NM_172095, Q8NHT9, Q96P54, Q96P55, Q96P56, uc318yof.1, uc318yof.2
UCSC ID: ENST00000396879.8_13
RefSeq Accession: NM_172095.4
Protein: Q96P56 (aka CTSR2_HUMAN)

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene CATSPER2:
strc-hearing-loss (STRC-Related Autosomal Recessive Hearing Loss)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.