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CATSPER2 cation channel sperm associated 2 [ Homo sapiens (human) ]

Gene ID: 117155, updated on 2-Nov-2024

Summary

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Official Symbol
CATSPER2provided by HGNC
Official Full Name
cation channel sperm associated 2provided by HGNC
Primary source
HGNC:HGNC:18810
See related
Ensembl:ENSG00000166762 MIM:607249; AllianceGenome:HGNC:18810
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
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]
Expression
Broad expression in testis (RPKM 13.6), skin (RPKM 2.9) and 15 other tissues See more
Orthologs
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Genomic context

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See CATSPER2 in Genome Data Viewer
Location:
15q15.3
Exon count:
14
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (43628503..43648884, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (41435861..41456243, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (43920701..43941082, complement)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene RNA, U6 small nuclear 554, pseudogene Neighboring gene stereocilin Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:43905197-43905696 Neighboring gene small nucleolar RNA U13 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:43907535-43908408 Neighboring gene PPIP5K1P1-CATSPER2 readthrough Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9316 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9317 Neighboring gene RNA, U6 small nuclear 610, pseudogene Neighboring gene protein disulfide isomerase family A member 3 pseudogene 2 Neighboring gene diphosphoinositol pentakisphosphate kinase 1 pseudogene 1

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. A novel copy number variation in CATSPER2 causes idiopathic male infertility with normal semen parameters. Luo T, et al. Hum Reprod, 2019 Mar 1. PMID 30629171
  2. Chromosome microarray analysis: a case report of infertile brothers with CATSPER gene deletion. Jaiswal D, et al. Gene, 2014 Jun 1. PMID 24690399
  3. Maternal uniparental disomy of chromosome 15 and concomitant STRC and CATSPER2 deletion-mediated deafness-infertility syndrome. Karger L, et al. Am J Med Genet A, 2017 May. PMID 28317263, Free PMC Article
  4. Genetic male infertility and mutation of CATSPER ion channels. Hildebrand MS, et al. Eur J Hum Genet, 2010 Nov. PMID 20648059, Free PMC Article
  5. Ion channels. Swimming with sperm. Garbers DL. Nature, 2001 Oct 11. PMID 11595929

See all (28) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Frequency of the STRC-CATSPER2 deletion in STRC-associated hearing loss patients.
    Title: Frequency of the STRC-CATSPER2 deletion in STRC-associated hearing loss patients.
  2. Dispersed DNA variants underlie hearing loss in South Florida's minority population.
    Title: Dispersed DNA variants underlie hearing loss in South Florida's minority population.
  3. disruption of CATSPER2 current is a significant factor causing idiopathic male infertility; the specific copy number variation disrupts one gene copy in the region 43894500-43950000 in chromosome 15
    Title: A novel copy number variation in CATSPER2 causes idiopathic male infertility with normal semen parameters.
  4. Levels of Tektin 2 and CatSper 2 proteins are positively associated with sperm motility parameters. Measurements of Tektin 2 levels can be correlated with the clinical outcome of ICSI.
    Title: Levels of Tektin 2 and CatSper 2 in normozoospermic and oligoasthenozoospermic men and its association with motility, fertilization rate, embryo quality and pregnancy rate.
  5. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
  6. CatSper1 and CatSper2 can associate with and modulate the function of the Ca(v)3.3 channel, which might be important in the regulation of sperm function.
    Title: Association of Catsper1 or -2 with Ca(v)3.3 leads to suppression of T-type calcium channel activity.
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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Deafness-infertility syndrome
MedGen: C1970187 OMIM: 611102 GeneReviews: STRC-Related Autosomal Recessive Hearing Loss
Compare labs
Spermatogenic failure 7
MedGen: C2751811 OMIM: 612997 GeneReviews: Not available
Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ58544, MGC33346

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables calcium-activated cation channel activity IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables voltage-gated calcium channel activity IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in calcium ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
  
involved_in calcium ion transport IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in fertilization IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in flagellated sperm motility IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in sperm capacitation IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
part_of CatSper complex IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of CatSper complex ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in motile cilium IEA
Inferred from Electronic Annotation
more info
  
located_in plasma membrane TAS
Traceable Author Statement
more info
  

General protein information

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Preferred Names
cation channel sperm-associated protein 2
Names
sperm ion channel

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_009283.2 RefSeqGene

    Range
    5040..25381
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001282309.3 → NP_001269238.1  cation channel sperm-associated protein 2 isoform 1

    See identical proteins and their annotated locations for NP_001269238.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) differs in the 5' UTR and uses an alternate in-frame splice site in the 3' coding region compared to variant 2. The encoded isoform (1) is shorter than isoform 2.
    Source sequence(s)
    AC011330
    Consensus CDS
    CCDS32216.1
    UniProtKB/TrEMBL
    B3KV08
    Related
    ENSP00000321463.5, ENST00000321596.6
    Conserved Domains (1) summary
    pfam00520
    Location:172 → 350
    Ion_trans; Ion transport protein

  2. NM_001282310.2 → NP_001269239.1  cation channel sperm-associated protein 2 isoform 5

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) differs in the 5' region and initiates translation at an alternate start codon, and uses an alternate in-frame splice site in the 3' coding region, compared to variant 2. The encoded isoform (5) has a distinct N-terminus and is longer than isoform 2.
    Source sequence(s)
    AC011330
    Consensus CDS
    CCDS73714.1
    UniProtKB/TrEMBL
    B3KV08, F8W9H2
    Related
    ENSP00000371180.1, ENST00000381761.6
    Conserved Domains (1) summary
    pfam00520
    Location:178 → 356
    Ion_trans; Ion transport protein

  3. NM_172095.4 → NP_742093.1  cation channel sperm-associated protein 2 isoform 2

    See identical proteins and their annotated locations for NP_742093.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) is the reference variant and encodes isoform 2.
    Source sequence(s)
    AC011330
    Consensus CDS
    CCDS10099.1
    UniProtKB/Swiss-Prot
    Q8NHT9, Q96P54, Q96P55, Q96P56
    UniProtKB/TrEMBL
    B3KV08
    Related
    ENSP00000380088.3, ENST00000396879.8
    Conserved Domains (1) summary
    pfam00520
    Location:172 → 350
    Ion_trans; Ion transport protein

RNA

  1. NR_110319.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) is shorter at the 5' end and lacks an exon in the 3' region compared to variant 2. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders this transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC011330, AF411819, BC064387
    Related
    ENST00000433380.5

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p14 Primary Assembly

    Range
    43628503..43648884 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060939.1 Alternate T2T-CHM13v2.0

    Range
    41435861..41456243 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_054020.3: Suppressed sequence

    Description
    NM_054020.3: This RefSeq has been removed because currently there is insufficient support for this full-length transcript combination.

  2. NM_172097.1: Suppressed sequence

    Description
    NM_172097.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q96P56.2 GenPept UniProtKB/Swiss-Prot:Q96P56

Gene LinkOut

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