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    CATSPER2P1 CATSPER2 pseudogene 1 [ Homo sapiens (human) ]

    Gene ID: 440278, updated on 22-Oct-2024

    Summary

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    Official Symbol
    CATSPER2P1provided by HGNC
    Official Full Name
    CATSPER2 pseudogene 1provided by HGNC
    Primary source
    HGNC:HGNC:31054
    See related
    Ensembl:ENSG00000291053 AllianceGenome:HGNC:31054
    Gene type
    pseudo
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CATSPER2B
    Summary
    Catsper genes belong to a family of putative cation channels that are specific to spermatozoa and localize to the flagellum. This gene is part of a tandem repeat on chromosome 15q15; this copy of the gene is thought to be a pseudogene. [provided by RefSeq, Oct 2008]
    Expression
    Broad expression in testis (RPKM 4.5), thyroid (RPKM 1.3) and 22 other tissues See more
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    Genomic context

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    See CATSPER2P1 in Genome Data Viewer
    Location:
    15q15.3
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (43735934..43746298, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (41543294..41553655, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (44028132..44038496, complement)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene stereocilin pseudogene 1 Neighboring gene small nucleolar RNA U13 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9318 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9319 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9320 Neighboring gene RNA, U6 small nuclear 354, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6387 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9321 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9322 Neighboring gene protein disulfide isomerase family A member 3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:44068605-44069133 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6388 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9324 Neighboring gene elongation factor for RNA polymerase II 3 Neighboring gene small EDRK-rich factor 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9325 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:44081221-44081720 Neighboring gene SERF2-C15orf63 readthrough Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr15:44084013-44085212 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:44085666-44086519 Neighboring gene microRNA 1282

    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. Evolutionary genomics reveals lineage-specific gene loss and rapid evolution of a sperm-specific ion channel complex: CatSpers and CatSperbeta. Cai X, et al. PLoS One, 2008. PMID 18974790, Free PMC Article
    2. Sensorineural deafness and male infertility: a contiguous gene deletion syndrome. Zhang Y, et al. J Med Genet, 2007 Apr. PMID 17098888, Free PMC Article
    3. CATSPER2, a human autosomal nonsyndromic male infertility gene. Avidan N, et al. Eur J Hum Genet, 2003 Jul. PMID 12825070
    4. Comparative genomics search for losses of long-established genes on the human lineage. Zhu J, et al. PLoS Comput Biol, 2007 Dec. PMID 18085818, Free PMC Article
    5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932, Free PMC Article

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    General gene information

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    Markers

    Other Names

    • cation channel sperm associated 2 pseudogene 1

    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.

    RNA

    1. NR_002318.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC018512, BC066967
      Related
      ENST00000381680.8

    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
      43735934..43746298 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060939.1 Alternate T2T-CHM13v2.0

      Range
      41543294..41553655 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version

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