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CATSPER2P1 cation channel sperm associated 2 pseudogene 1 [ Homo sapiens (human) ]

Gene ID: 440278, updated on 29-Mar-2023

Summary

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Official Symbol
CATSPER2P1provided by HGNC
Official Full Name
cation channel sperm associated 2 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
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_2023_03 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (43735934..43746298, complement)
RS_2023_03 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (41543294..41553655, complement)
105.20220307 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 RNA, U6 small nuclear 354, pseudogene Neighboring gene protein disulfide isomerase family A member 3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:44068605-44069133 Neighboring gene elongation factor for RNA polymerase II 3

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)

Genotypes

General gene information

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Markers

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
    ENST00000381680.7

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_03

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

Gene LinkOut

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