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Q96P56

- CTSR2_HUMAN

UniProt

Q96P56 - CTSR2_HUMAN

Protein

Cation channel sperm-associated protein 2

Gene

CATSPER2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 106 (01 Oct 2014)
      Sequence version 2 (24 Jul 2007)
      Previous versions | rss
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    Functioni

    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.2 Publications

    GO - Molecular functioni

    1. calcium activated cation channel activity Source: InterPro
    2. protein binding Source: IntAct
    3. voltage-gated calcium channel activity Source: RefGenome

    GO - Biological processi

    1. calcium ion import Source: RefGenome
    2. cell differentiation Source: UniProtKB-KW
    3. membrane depolarization during action potential Source: RefGenome
    4. multicellular organismal development Source: UniProtKB-KW
    5. multicellular organism reproduction Source: Reactome
    6. single fertilization Source: Reactome
    7. spermatogenesis Source: UniProtKB-KW
    8. sperm-egg recognition Source: Reactome
    9. sperm motility Source: RefGenome

    Keywords - Molecular functioni

    Calcium channel, Developmental protein, Ion channel, Voltage-gated channel

    Keywords - Biological processi

    Calcium transport, Differentiation, Ion transport, Spermatogenesis, Transport

    Keywords - Ligandi

    Calcium

    Enzyme and pathway databases

    ReactomeiREACT_163875. Sperm Motility And Taxes.

    Protein family/group databases

    TCDBi1.A.1.19.2. the voltage-gated ion channel (vic) superfamily.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Cation channel sperm-associated protein 2
    Short name:
    CatSper2
    Gene namesi
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 15

    Organism-specific databases

    HGNCiHGNC:18810. CATSPER2.

    Subcellular locationi

    Cell projectionciliumflagellum membrane By similarity; Multi-pass membrane protein By similarity
    Note: Specifically located in the principal piece of sperm tail.

    GO - Cellular componenti

    1. CatSper complex Source: UniProtKB
    2. cilium Source: UniProtKB-KW
    3. plasma membrane Source: RefGenome

    Keywords - Cellular componenti

    Cell membrane, Cell projection, Cilium, Flagellum, Membrane

    Pathology & Biotechi

    Involvement in diseasei

    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.2 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.

    Organism-specific databases

    MIMi611102. phenotype.
    Orphaneti94064. Deafness-infertility syndrome.
    PharmGKBiPA38691.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 530530Cation channel sperm-associated protein 2PRO_0000295676Add
    BLAST

    Proteomic databases

    PaxDbiQ96P56.
    PRIDEiQ96P56.

    PTM databases

    PhosphoSiteiQ96P56.

    Expressioni

    Tissue specificityi

    Testis-specific.2 Publications

    Gene expression databases

    ArrayExpressiQ96P56.
    BgeeiQ96P56.
    CleanExiHS_CATSPER2.
    GenevestigatoriQ96P56.

    Organism-specific databases

    HPAiHPA042709.

    Interactioni

    Subunit structurei

    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.1 PublicationCurated

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    CACNA1IQ9P0X43EBI-2215024,EBI-1220829

    Protein-protein interaction databases

    IntActiQ96P56. 1 interaction.
    STRINGi9606.ENSP00000299989.

    Structurei

    3D structure databases

    ProteinModelPortaliQ96P56.
    SMRiQ96P56. Positions 104-341.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 112112CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini134 – 14512ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini167 – 17812CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini200 – 2056ExtracellularSequence Analysis
    Topological domaini227 – 24216CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini264 – 28219ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini304 – 32017ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini342 – 530189CytoplasmicSequence AnalysisAdd
    BLAST

    Intramembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Intramembranei283 – 30321Helical; Pore-formingSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei113 – 13321Helical; Name=Segment S1Sequence AnalysisAdd
    BLAST
    Transmembranei146 – 16621Helical; Name=Segment S2Sequence AnalysisAdd
    BLAST
    Transmembranei179 – 19921Helical; Name=Segment S3Sequence AnalysisAdd
    BLAST
    Transmembranei206 – 22621Helical; Name=Segment S4Sequence AnalysisAdd
    BLAST
    Transmembranei243 – 26321Helical; Name=Segment S5Sequence AnalysisAdd
    BLAST
    Transmembranei321 – 34121Helical; Name=Segment S6Sequence AnalysisAdd
    BLAST

    Family & Domainsi

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi385 – 46480Ser-richAdd
    BLAST

    Sequence similaritiesi

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG302565.
    HOGENOMiHOG000007710.
    HOVERGENiHBG107782.
    KOiK16890.
    OrthoDBiEOG761BTM.
    PhylomeDBiQ96P56.
    TreeFamiTF343585.

    Family and domain databases

    Gene3Di1.20.120.350. 1 hit.
    InterProiIPR028747. CatSper2.
    IPR027359. Channel_four-helix_dom.
    IPR005821. Ion_trans_dom.
    [Graphical view]
    PANTHERiPTHR10037:SF189. PTHR10037:SF189. 1 hit.
    PfamiPF00520. Ion_trans. 1 hit.
    [Graphical view]

    Sequences (4)i

    Sequence statusi: Complete.

    This entry describes 4 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q96P56-1) [UniParc]FASTAAdd to Basket

    Also known as: Variant 2

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MAAYQQEEQM QLPRADAIRS RLIDTFSLIE HLQGLSQAVP RHTIRELLDP    50
    SRQKKLVLGD QHQLVRFSIK PQRIEQISHA QRLLSRLHVR CSQRPPLSLW 100
    AGWVLECPLF KNFIIFLVFL NTIILMVEIE LLESTNTKLW PLKLTLEVAA 150
    WFILLIFILE ILLKWLSNFS VFWKSAWNVF DFVVTMLSLL PEVVVLVGVT 200
    GQSVWLQLLR ICRVLRSLKL LAQFRQIQII ILVLVRALKS MTFLLMLLLI 250
    FFYIFAVTGV YVFSEYTRSP RQDLEYHVFF SDLPNSLVTV FILFTLDHWY 300
    ALLQDVWKVP EVSRIFSSIY FILWLLLGSI IFRSIIVAMM VTNFQNIRKE 350
    LNEEMARREV QLKADMFKRQ IIQRRKNMSH EALTSSHSKI EDSSRGASQQ 400
    RESLDLSEVS EVESNYGATE EDLITSASKT EETLSKKREY QSSSCVSSTS 450
    SSYSSSSESR FSESIGRLDW ETLVHENLPG LMEMDQDDRV WPRDSLFRYF 500
    ELLEKLQYNL EERKKLQEFA VQALMNLEDK 530
    Length:530
    Mass (Da):62,041
    Last modified:July 24, 2007 - v2
    Checksum:i8561CC0E9F3590B0
    GO
    Isoform 2 (identifier: Q96P56-2) [UniParc]FASTAAdd to Basket

    Also known as: Variant 1

    The sequence of this isoform differs from the canonical sequence as follows:
         393-394: Missing.

    Show »
    Length:528
    Mass (Da):61,867
    Checksum:i4B38C7DC481EE755
    GO
    Isoform 3 (identifier: Q96P56-3) [UniParc]FASTAAdd to Basket

    Also known as: Variant 3

    The sequence of this isoform differs from the canonical sequence as follows:
         393-414: SSRGASQQRESLDLSEVSEVES → RSFGLGDSCARKSARANGNGSG
         415-530: Missing.

    Show »
    Length:414
    Mass (Da):48,341
    Checksum:iB5A474A8DF68C27F
    GO
    Isoform 4 (identifier: Q96P56-4) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         188-199: SLLPEVVVLVGV → VRIEILRVRLVG
         200-530: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:199
    Mass (Da):23,437
    Checksum:i57171E69BE875D30
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti46 – 461E → K in AAH28728. (PubMed:15489334)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti8 – 81E → G.
    Corresponds to variant rs2614835 [ dbSNP | Ensembl ].
    VAR_033307
    Natural varianti57 – 571V → I.
    Corresponds to variant rs8042868 [ dbSNP | Ensembl ].
    VAR_033308

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei188 – 19912SLLPE…VLVGV → VRIEILRVRLVG in isoform 4. 1 PublicationVSP_026973Add
    BLAST
    Alternative sequencei200 – 530331Missing in isoform 4. 1 PublicationVSP_026974Add
    BLAST
    Alternative sequencei393 – 41422SSRGA…SEVES → RSFGLGDSCARKSARANGNG SG in isoform 3. 1 PublicationVSP_026975Add
    BLAST
    Alternative sequencei393 – 3942Missing in isoform 2. 2 PublicationsVSP_026976
    Alternative sequencei415 – 530116Missing in isoform 3. 1 PublicationVSP_026977Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF411817 mRNA. Translation: AAL26490.1.
    AF411818 mRNA. Translation: AAL26491.1.
    AF411819 mRNA. Translation: AAL26492.1.
    BC028728 mRNA. Translation: AAH28728.1.
    BC064387 mRNA. Translation: AAH64387.1.
    CCDSiCCDS10099.1. [Q96P56-1]
    CCDS32216.1. [Q96P56-2]
    RefSeqiNP_001269238.1. NM_001282309.1. [Q96P56-2]
    NP_473361.1. NM_054020.3. [Q96P56-2]
    NP_742093.1. NM_172095.2. [Q96P56-1]
    UniGeneiHs.662284.

    Genome annotation databases

    EnsembliENST00000321596; ENSP00000321463; ENSG00000166762. [Q96P56-1]
    ENST00000396879; ENSP00000380088; ENSG00000166762. [Q96P56-2]
    ENST00000433380; ENSP00000389746; ENSG00000166762. [Q96P56-3]
    GeneIDi117155.
    KEGGihsa:117155.
    UCSCiuc001zsh.3. human. [Q96P56-1]
    uc001zsi.3. human. [Q96P56-2]
    uc001zsk.3. human. [Q96P56-4]

    Polymorphism databases

    DMDMi156631018.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF411817 mRNA. Translation: AAL26490.1 .
    AF411818 mRNA. Translation: AAL26491.1 .
    AF411819 mRNA. Translation: AAL26492.1 .
    BC028728 mRNA. Translation: AAH28728.1 .
    BC064387 mRNA. Translation: AAH64387.1 .
    CCDSi CCDS10099.1. [Q96P56-1 ]
    CCDS32216.1. [Q96P56-2 ]
    RefSeqi NP_001269238.1. NM_001282309.1. [Q96P56-2 ]
    NP_473361.1. NM_054020.3. [Q96P56-2 ]
    NP_742093.1. NM_172095.2. [Q96P56-1 ]
    UniGenei Hs.662284.

    3D structure databases

    ProteinModelPortali Q96P56.
    SMRi Q96P56. Positions 104-341.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    IntActi Q96P56. 1 interaction.
    STRINGi 9606.ENSP00000299989.

    Chemistry

    GuidetoPHARMACOLOGYi 389.

    Protein family/group databases

    TCDBi 1.A.1.19.2. the voltage-gated ion channel (vic) superfamily.

    PTM databases

    PhosphoSitei Q96P56.

    Polymorphism databases

    DMDMi 156631018.

    Proteomic databases

    PaxDbi Q96P56.
    PRIDEi Q96P56.

    Protocols and materials databases

    DNASUi 117155.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000321596 ; ENSP00000321463 ; ENSG00000166762 . [Q96P56-1 ]
    ENST00000396879 ; ENSP00000380088 ; ENSG00000166762 . [Q96P56-2 ]
    ENST00000433380 ; ENSP00000389746 ; ENSG00000166762 . [Q96P56-3 ]
    GeneIDi 117155.
    KEGGi hsa:117155.
    UCSCi uc001zsh.3. human. [Q96P56-1 ]
    uc001zsi.3. human. [Q96P56-2 ]
    uc001zsk.3. human. [Q96P56-4 ]

    Organism-specific databases

    CTDi 117155.
    GeneCardsi GC15M043920.
    GeneReviewsi CATSPER2.
    HGNCi HGNC:18810. CATSPER2.
    HPAi HPA042709.
    MIMi 607249. gene.
    611102. phenotype.
    neXtProti NX_Q96P56.
    Orphaneti 94064. Deafness-infertility syndrome.
    PharmGKBi PA38691.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG302565.
    HOGENOMi HOG000007710.
    HOVERGENi HBG107782.
    KOi K16890.
    OrthoDBi EOG761BTM.
    PhylomeDBi Q96P56.
    TreeFami TF343585.

    Enzyme and pathway databases

    Reactomei REACT_163875. Sperm Motility And Taxes.

    Miscellaneous databases

    ChiTaRSi CATSPER2. human.
    GeneWikii CatSper2.
    GenomeRNAii 117155.
    NextBioi 80109.
    PROi Q96P56.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q96P56.
    Bgeei Q96P56.
    CleanExi HS_CATSPER2.
    Genevestigatori Q96P56.

    Family and domain databases

    Gene3Di 1.20.120.350. 1 hit.
    InterProi IPR028747. CatSper2.
    IPR027359. Channel_four-helix_dom.
    IPR005821. Ion_trans_dom.
    [Graphical view ]
    PANTHERi PTHR10037:SF189. PTHR10037:SF189. 1 hit.
    Pfami PF00520. Ion_trans. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "A voltage-gated ion channel expressed specifically in spermatozoa."
      Quill T.A., Ren D., Clapham D.E., Garbers D.L.
      Proc. Natl. Acad. Sci. U.S.A. 98:12527-12531(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 2 AND 3), TISSUE SPECIFICITY.
    2. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2 AND 4).
      Tissue: Brain and Testis.
    3. Cited for: INVOLVEMENT IN DIS.
    4. "Association of Catsper1 or -2 with Ca(v)3.3 leads to suppression of T-type calcium channel activity."
      Zhang D., Chen J., Saraf A., Cassar S., Han P., Rogers J.C., Brioni J.D., Sullivan J.P., Gopalakrishnan M.
      J. Biol. Chem. 281:22332-22341(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH CACNA1I.
    5. "Sensorineural deafness and male infertility: a contiguous gene deletion syndrome."
      Zhang Y., Malekpour M., Al-Madani N., Kahrizi K., Zanganeh M., Mohseni M., Mojahedi F., Daneshi A., Najmabadi H., Smith R.J.H.
      J. Med. Genet. 44:233-240(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: INVOLVEMENT IN DIS.
    6. "Expression of CatSper family transcripts in the mouse testis during post-natal development and human ejaculated spermatozoa: relationship to sperm motility."
      Li H.-G., Ding X.-F., Liao A.-H., Kong X.-B., Xiong C.-L.
      Mol. Hum. Reprod. 13:299-306(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: TISSUE SPECIFICITY.
    7. "The CatSper channel mediates progesterone-induced Ca2+ influx in human sperm."
      Strunker T., Goodwin N., Brenker C., Kashikar N.D., Weyand I., Seifert R., Kaupp U.B.
      Nature 471:382-386(2011) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION IN ACTIVATION BY PROGESTERONE.
    8. "Progesterone activates the principal Ca2+ channel of human sperm."
      Lishko P.V., Botchkina I.L., Kirichok Y.
      Nature 471:387-391(2011) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION IN ACTIVATION BY PROGESTERONE.

    Entry informationi

    Entry nameiCTSR2_HUMAN
    AccessioniPrimary (citable) accession number: Q96P56
    Secondary accession number(s): Q8NHT9, Q96P54, Q96P55
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: July 24, 2007
    Last sequence update: July 24, 2007
    Last modified: October 1, 2014
    This is version 106 of the entry and version 2 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 15
      Human chromosome 15: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3