MCID: CTS004
MIFTS: 19

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 deafness-infertility syndrome and spermatogenic failure 7. An important gene associated with Catsper-Related Male Infertility is CATSPER1 (Cation Channel Sperm Associated 1), and among its related pathways/superpathways is Fertilization. Affiliated tissues include testis and testes.

GeneReviews: NBK22925

Related Diseases for Catsper-Related Male Infertility

Graphical network of the top 20 diseases related to Catsper-Related Male Infertility:



Diseases related to Catsper-Related Male Infertility

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

MalaCards organs/tissues related to Catsper-Related Male Infertility:

40
Testis, Testes

Publications for Catsper-Related Male Infertility

Articles related to Catsper-Related Male Infertility:

(show all 27)
# Title Authors PMID Year
1
Genetic male infertility and mutation of CATSPER ion channels. 61 24
20648059 2010
2
Genetic testing for sporadic hearing loss using targeted massively parallel sequencing identifies 10 novel mutations. 24
24853665 2015
3
Chromosome microarray analysis: a case report of infertile brothers with CATSPER gene deletion. 24
24690399 2014
4
Genetic testing for hearing loss in the United States should include deletion/duplication analysis for the deafness/infertility locus at 15q15.3. 24
23648117 2013
5
Disruption of the principal, progesterone-activated sperm Ca2+ channel in a CatSper2-deficient infertile patient. 24
23530196 2013
6
A novel, single, transmembrane protein CATSPERG is associated with CATSPER1 channel protein. 24
19516020 2009
7
A homozygous deletion of a normal variation locus in a patient with hearing loss from non-consanguineous parents. 24
19246478 2009
8
Human male infertility caused by mutations in the CATSPER1 channel protein. 24
19344877 2009
9
Stereocilin-deficient mice reveal the origin of cochlear waveform distortions. 24
18849963 2008
10
The biology of infertility: research advances and clinical challenges. 24
18989307 2008
11
Evolutionary genomics reveals lineage-specific gene loss and rapid evolution of a sperm-specific ion channel complex: CatSpers and CatSperbeta. 24
18974790 2008
12
CatSperbeta, a novel transmembrane protein in the CatSper channel complex. 24
17478420 2007
13
Sensorineural deafness and male infertility: a contiguous gene deletion syndrome. 24
17098888 2007
14
All four CatSper ion channel proteins are required for male fertility and sperm cell hyperactivated motility. 24
17227845 2007
15
Voltage-dependent calcium channels in mammalian spermatozoa revisited. 24
17127392 2007
16
Report on optimal evaluation of the infertile male. 24
17055823 2006
17
International Union of Pharmacology. L. Nomenclature and structure-function relationships of CatSper and two-pore channels. 24
16382101 2005
18
Sensorineural hearing loss in children. 24
15752533 2005
19
CatSper gene expression in postnatal development of mouse testis and in subfertile men with deficient sperm motility. 24
14688170 2004
20
Identification of human and mouse CatSper3 and CatSper4 genes: characterisation of a common interaction domain and evidence for expression in testis. 24
12932298 2003
21
CATSPER2, a human autosomal nonsyndromic male infertility gene. 24
12825070 2003
22
Mutations in a new gene encoding a protein of the hair bundle cause non-syndromic deafness at the DFNB16 locus. 24
11687802 2001
23
A sperm ion channel required for sperm motility and male fertility. 24
11595941 2001
24
A voltage-gated ion channel expressed specifically in spermatozoa. 24
11675491 2001
25
Deafness locus DFNB16 is located on chromosome 15q13-q21 within a 5-cM interval flanked by markers D15S994 and D15S132. 24
10090914 1999
26
The epidemiology of infertility in Aberdeen. 24
2390599 1990
27
CATSPER-Related Male Infertility 61
20301780 2009

Variations for Catsper-Related Male Infertility

ClinVar genetic disease variations for Catsper-Related Male Infertility:

6 ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CATSPER1 NM_053054.4(CATSPER1):c.539dup (p.His182fs)duplication Pathogenic 4400 rs193929390 11:65793311-65793312 11:66025840-66025841
2 CATSPER1 NM_053054.4(CATSPER1):c.944_948dup (p.Asp317fs)duplication Pathogenic 4401 rs193929391 11:65792902-65792903 11:66025431-66025432
3 STRC NM_153700.2(STRC):c.4219-1G>ASNV Pathogenic/Likely pathogenic 505435 rs748854592 15:43896351-43896351 15:43604153-43604153
4 CATSPER1 NM_053054.4(CATSPER1):c.853_854CA[3] (p.Gln287fs)short repeat Uncertain significance 561180 rs1565074167 11:65792991-65792992 11:66025520-66025521

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 CATSPER2 CATSPER1

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 CATSPER2 CATSPER1
2 motile cilium GO:0031514 9.16 CATSPER2 CATSPER1
3 cell projection GO:0042995 9.13 STRC CATSPER2 CATSPER1
4 CatSper complex GO:0036128 8.62 CATSPER2 CATSPER1

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 9.4 CATSPER2 CATSPER1
2 regulation of ion transmembrane transport GO:0034765 9.37 CATSPER2 CATSPER1
3 calcium ion transport GO:0006816 9.32 CATSPER2 CATSPER1
4 calcium ion transmembrane transport GO:0070588 9.26 CATSPER2 CATSPER1
5 flagellated sperm motility GO:0030317 9.16 CATSPER2 CATSPER1
6 response to progesterone GO:0032570 8.96 CATSPER2 CATSPER1
7 sperm-egg recognition GO:0035036 8.62 CATSPER2 CATSPER1

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 9.16 CATSPER2 CATSPER1
2 calcium channel activity GO:0005262 8.96 CATSPER2 CATSPER1
3 calcium activated cation channel activity GO:0005227 8.62 CATSPER2 CATSPER1

Sources for Catsper-Related Male Infertility

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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