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

    Gene ID: 117155, updated on 27-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
    mouse all
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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
    • 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.
    Submit: New GeneRIF Correction

    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)

    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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