CATSPER2 (cation channel sperm associated 2)

2014-11-01  

Identity

HGNC
CATSPER2
LOCATION
15q15.3
LOCUSID
117155
ALIAS
-

Other Information

Locus ID:

NCBI: 117155
MIM: 607249
HGNC: 18810
Ensembl: ENSG00000166762

Variants:

dbSNP: 117155
ClinVar: 117155
TCGA: ENSG00000166762
COSMIC: CATSPER2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000166762ENST00000321596Q96P56
ENSG00000166762ENST00000381761F8W9H2
ENSG00000166762ENST00000396879Q96P56
ENSG00000166762ENST00000409481B8ZZQ9
ENSG00000166762ENST00000419262H7C2X6
ENSG00000166762ENST00000432420E7EX46
ENSG00000166762ENST00000433380Q96P56
ENSG00000166762ENST00000433380A0A024QYX4
ENSG00000166762ENST00000450810H7BZ89

Expression (GTEx)

0
5
10
15
20
25
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
ReproductionREACTOMER-HSA-1474165
FertilizationREACTOMER-HSA-1187000
Sperm Motility And TaxesREACTOMER-HSA-1300642

References

Pubmed IDYearTitleCitations
379968782023Dispersed DNA variants underlie hearing loss in South Florida's minority population.3
379968782023Dispersed DNA variants underlie hearing loss in South Florida's minority population.3
350225562022Frequency of the STRC-CATSPER2 deletion in STRC-associated hearing loss patients.7
350225562022Frequency of the STRC-CATSPER2 deletion in STRC-associated hearing loss patients.7
306291712019A novel copy number variation in CATSPER2 causes idiopathic male infertility with normal semen parameters.32
306291712019A novel copy number variation in CATSPER2 causes idiopathic male infertility with normal semen parameters.32
235193962013Levels of Tektin 2 and CatSper 2 in normozoospermic and oligoasthenozoospermic men and its association with motility, fertilization rate, embryo quality and pregnancy rate.24
235193962013Levels of Tektin 2 and CatSper 2 in normozoospermic and oligoasthenozoospermic men and its association with motility, fertilization rate, embryo quality and pregnancy rate.24
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78
167406362006Association of Catsper1 or -2 with Ca(v)3.3 leads to suppression of T-type calcium channel activity.3
167406362006Association of Catsper1 or -2 with Ca(v)3.3 leads to suppression of T-type calcium channel activity.3

Citation

Dessen P

CATSPER2 (cation channel sperm associated 2)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/61434/catsper2-(cation-channel-sperm-associated-2)