CATSPER2
Cation channel sperm-associated protein 2
Also known as: CTSR2_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q96P56
- Gene
- CATSPER2
- Ensembl
- ENSG00000166762
- Chromosome
- 15
- Canonical length
- 530 aa
- Protein class
- Disease related genes, Human disease related genes, Plasma proteins, Potential drug targets, Predicted intracellular proteins, Predicted membrane proteins, Transporters, Voltage-gated ion channels
- Subcellular location
- Vesicles,Plasma membrane,Primary cilium,Principal piece,End piece
OverviewNCBI 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]
Canonical amino-acid sequenceUniProt
530 residues, UniProt reviewed canonical sequence.
>Q96P56|CATSPER2
1 MAAYQQEEQM QLPRADAIRS RLIDTFSLIE HLQGLSQAVP RHTIRELLDP SRQKKLVLGD
61 QHQLVRFSIK PQRIEQISHA QRLLSRLHVR CSQRPPLSLW AGWVLECPLF KNFIIFLVFL
121 NTIILMVEIE LLESTNTKLW PLKLTLEVAA WFILLIFILE ILLKWLSNFS VFWKSAWNVF
181 DFVVTMLSLL PEVVVLVGVT GQSVWLQLLR ICRVLRSLKL LAQFRQIQII ILVLVRALKS
241 MTFLLMLLLI FFYIFAVTGV YVFSEYTRSP RQDLEYHVFF SDLPNSLVTV FILFTLDHWY
301 ALLQDVWKVP EVSRIFSSIY FILWLLLGSI IFRSIIVAMM VTNFQNIRKE LNEEMARREV
361 QLKADMFKRQ IIQRRKNMSH EALTSSHSKI EDSSRGASQQ RESLDLSEVS EVESNYGATE
421 EDLITSASKT EETLSKKREY QSSSCVSSTS SSYSSSSESR FSESIGRLDW ETLVHENLPG
481 LMEMDQDDRV WPRDSLFRYF ELLEKLQYNL EERKKLQEFA VQALMNLEDKLocalizationUniProt · AlphaFold · HPA
Whether an antibody against CATSPER2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 6
- Mean surface accessibility (rSASA)
- 0.45
- Highest tissue expression
- 21 nTPM
Expression across tissuesHPA
Tissue
- retina: 21 nTPM
- testis: 15 nTPM
- cerebellum: 8.1 nTPM
- skin: 6.7 nTPM
- epididymis: 6.3 nTPM
- bone marrow: 5.5 nTPM
Single-cell type
- rod photoreceptor cells: 306 nCPM
- cone photoreceptor cells: 197 nCPM
- brain excitatory neurons: 154 nCPM
- sertoli cells: 144 nCPM
- corticotrophs: 143 nCPM
- lactotrophs: 126 nCPM
Immune cell
- memory B-cell: 1.1 nTPM
- naive CD8 T-cell: 0.6 nTPM
- memory CD8 T-cell: 0.5 nTPM
- neutrophil: 0.5 nTPM
- MAIT T-cell: 0.4 nTPM
- naive CD4 T-cell: 0.4 nTPM
Brain region
- cerebellum: 44 nTPM
- white matter: 22 nTPM
- cerebral cortex: 22 nTPM
- amygdala: 18 nTPM
- hippocampal formation: 18 nTPM
- pons: 17 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about CATSPER2.
Disease | AllUniProt
Conditions CATSPER2 is implicated in, by any mechanism.
- Deafness-infertility syndrome (DIS) MIM:611102
Disease | GeneticClinVar
2 pathogenic / likely-pathogenic of 139 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 1.22
- gnomAD pLI
- 0
- gnomAD missense Z
- -0.75
- DepMap mean gene effect
- 0.01
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Ion transport domain
- Voltage-dependent channel domain superfamily
- Ion transport protein
- Cation channel sperm-associated protein 2
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of CATSPER2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads CATSPER2 as an antibody target. Whether an autoantibody or antibody against CATSPER2 could matter depends on whether native CATSPER2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
CATSPER2 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label CATSPER2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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