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Q96P56

- CTSR2_HUMAN

UniProt

Q96P56 - CTSR2_HUMAN

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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

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 organism reproduction Source: Reactome
  5. multicellular organismal development Source: UniProtKB-KW
  6. single fertilization Source: Reactome
  7. sperm motility Source: RefGenome
  8. sperm-egg recognition Source: Reactome
  9. spermatogenesis Source: UniProtKB-KW
Complete GO annotation...

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

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 112112Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei113 – 13321Helical; Name=Segment S1; Reviewed prediction
Add
BLAST
Topological domaini134 – 14512Extracellular Reviewed prediction
Add
BLAST
Transmembranei146 – 16621Helical; Name=Segment S2; Reviewed prediction
Add
BLAST
Topological domaini167 – 17812Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei179 – 19921Helical; Name=Segment S3; Reviewed prediction
Add
BLAST
Topological domaini200 – 2056Extracellular Reviewed prediction
Transmembranei206 – 22621Helical; Name=Segment S4; Reviewed prediction
Add
BLAST
Topological domaini227 – 24216Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei243 – 26321Helical; Name=Segment S5; Reviewed prediction
Add
BLAST
Topological domaini264 – 28219Extracellular Reviewed prediction
Add
BLAST
Intramembranei283 – 30321Helical; Pore-forming; Reviewed prediction
Add
BLAST
Topological domaini304 – 32017Extracellular Reviewed prediction
Add
BLAST
Transmembranei321 – 34121Helical; Name=Segment S6; Reviewed prediction
Add
BLAST
Topological domaini342 – 530189Cytoplasmic Reviewed prediction
Add
BLAST

GO - Cellular componenti

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

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

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 2
PRO_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 Reviewed prediction. Component of the CatSper complex. Interacts with Ca(v)3.3/CACNA1I, leading to suppress T-type calcium channel activity.1 Publication

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.

Family & Domainsi

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi385 – 46480Ser-rich
Add
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

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.
VSP_026973Add
BLAST
Alternative sequencei200 – 530331Missing in isoform 4.
VSP_026974Add
BLAST
Alternative sequencei393 – 41422SSRGA…SEVES → RSFGLGDSCARKSARANGNG SG in isoform 3.
VSP_026975Add
BLAST
Alternative sequencei393 – 3942Missing in isoform 2.
VSP_026976
Alternative sequencei415 – 530116Missing in isoform 3.
VSP_026977Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti46 – 461E → K in AAH28728. 1 Publication

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]
ENST00000354127; ENSP00000339137; ENSG00000166762. [Q96P56-2]
ENST00000355438; ENSP00000347613; ENSG00000166762. [Q96P56-3]
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 ]
ENST00000354127 ; ENSP00000339137 ; ENSG00000166762 . [Q96P56-2 ]
ENST00000355438 ; ENSP00000347613 ; ENSG00000166762 . [Q96P56-3 ]
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

« Hide 'large scale' publications
  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: September 3, 2014
This is version 105 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

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