MCID: CTS004
MIFTS: 11

Catsper-Related Male Infertility

Aliases & Classifications for Catsper-Related Male Infertility

MalaCards integrated aliases for Catsper-Related Male Infertility:

Name: Catsper-Related Male Infertility 24 29 6

Summaries for Catsper-Related Male Infertility

MalaCards based summary : Catsper-Related Male Infertility is related to male infertility and infertility. An important gene associated with Catsper-Related Male Infertility is CATSPER1 (Cation Channel Sperm Associated 1), and among its related pathways/superpathways is Fertilization.

GeneReviews: NBK22925

Related Diseases for Catsper-Related Male Infertility

Diseases related to Catsper-Related Male Infertility via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 male infertility 29.4 CATSPER1 CATSPER2
2 infertility 29.0 CATSPER1 CATSPER2
3 deafness-infertility syndrome 9.3 CATSPER2 STRC

Symptoms & Phenotypes for Catsper-Related Male Infertility

Drugs & Therapeutics for Catsper-Related Male Infertility

Search Clinical Trials , NIH Clinical Center for Catsper-Related Male Infertility

Genetic Tests for Catsper-Related Male Infertility

Genetic tests related to Catsper-Related Male Infertility:

# Genetic test Affiliating Genes
1 Catsper-Related Male Infertility 29 CATSPER1 CATSPER2 STRC

Anatomical Context for Catsper-Related Male Infertility

Publications for Catsper-Related Male Infertility

Articles related to Catsper-Related Male Infertility:

# Title Authors Year
1
CATSPER-Related Male Infertility ( 20301780 )
1993

Variations for Catsper-Related Male Infertility

ClinVar genetic disease variations for Catsper-Related Male Infertility:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CATSPER1 NM_053054.3(CATSPER1): c.539dupT (p.His182Profs) duplication Pathogenic rs193929390 GRCh37 Chromosome 11, 65793312: 65793312
2 CATSPER1 NM_053054.3(CATSPER1): c.539dupT (p.His182Profs) duplication Pathogenic rs193929390 GRCh38 Chromosome 11, 66025841: 66025841
3 CATSPER1 NM_053054.3(CATSPER1): c.944_948dupATGGC (p.Asp317Metfs) duplication Pathogenic rs193929391 GRCh37 Chromosome 11, 65792903: 65792907
4 CATSPER1 NM_053054.3(CATSPER1): c.944_948dupATGGC (p.Asp317Metfs) duplication Pathogenic rs193929391 GRCh38 Chromosome 11, 66025432: 66025436

Expression for Catsper-Related Male Infertility

Search GEO for disease gene expression data for Catsper-Related Male Infertility.

Pathways for Catsper-Related Male Infertility

Pathways related to Catsper-Related Male Infertility according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.51 CATSPER1 CATSPER2

GO Terms for Catsper-Related Male Infertility

Cellular components related to Catsper-Related Male Infertility according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cilium GO:0005929 9.26 CATSPER1 CATSPER2
2 motile cilium GO:0031514 9.16 CATSPER1 CATSPER2
3 cell projection GO:0042995 9.13 CATSPER1 CATSPER2 STRC
4 CatSper complex GO:0036128 8.62 CATSPER1 CATSPER2

Biological processes related to Catsper-Related Male Infertility according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 spermatogenesis GO:0007283 9.43 CATSPER1 CATSPER2
2 regulation of ion transmembrane transport GO:0034765 9.4 CATSPER1 CATSPER2
3 calcium ion transport GO:0006816 9.37 CATSPER1 CATSPER2
4 calcium ion transmembrane transport GO:0070588 9.32 CATSPER1 CATSPER2
5 flagellated sperm motility GO:0030317 9.26 CATSPER1 CATSPER2
6 response to progesterone GO:0032570 9.16 CATSPER1 CATSPER2
7 membrane depolarization during action potential GO:0086010 8.96 CATSPER1 CATSPER2
8 sperm-egg recognition GO:0035036 8.62 CATSPER1 CATSPER2

Molecular functions related to Catsper-Related Male Infertility according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 voltage-gated ion channel activity GO:0005244 9.32 CATSPER1 CATSPER2
2 calcium channel activity GO:0005262 9.26 CATSPER1 CATSPER2
3 cation channel activity GO:0005261 9.16 CATSPER1 CATSPER2
4 voltage-gated calcium channel activity GO:0005245 8.96 CATSPER1 CATSPER2
5 calcium activated cation channel activity GO:0005227 8.62 CATSPER1 CATSPER2

Sources for Catsper-Related Male Infertility

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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