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

Gene ID: 117155, updated on 3-Jun-2018
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; Vega:OTTHUMG00000059902
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
See CATSPER2 in Genome Data Viewer
Location:
15q15.3
Exon count:
14
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 15 NC_000015.10 (43630562..43648884, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (43922772..43941039, complement)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene creatine kinase, mitochondrial 1B Neighboring gene RNA, U6 small nuclear 554, pseudogene Neighboring gene stereocilin Neighboring gene PPIP5K1P1-CATSPER2 readthrough 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

  • 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 Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

  • Fertilization, organism-specific biosystem (from REACTOME)
    Fertilization, organism-specific biosystemMammalian fertilization comprises sperm migration through the female reproductive tract, biochemical and morphological changes to sperm, and sperm-egg interaction in the oviduct. Although the broad c...
  • Reproduction, organism-specific biosystem (from REACTOME)
    Reproduction, organism-specific biosystemHuman reproduction mixes the genomes of two individuals creating a new organism. The offspring individuals produced by sexual reproduction differ from their parents and from their siblings. Reproduct...
  • Sperm Motility And Taxes, organism-specific biosystem (from REACTOME)
    Sperm Motility And Taxes, organism-specific biosystemA series of receptor signaling pathways potentially govern chemical communication between sperm and egg, chemotactically guiding incoming sperm towards the oocyte. Though several substances are confi...

Markers

Homology

Clone Names

  • FLJ58544, MGC33346

Gene Ontology Provided by GOA

Function Evidence Code Pubs
calcium activated cation channel activity IEA
Inferred from Electronic Annotation
more info
 
calcium channel activity IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
voltage-gated ion channel activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
calcium ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
cell differentiation IEA
Inferred from Electronic Annotation
more info
 
flagellated sperm motility IEA
Inferred from Electronic Annotation
more info
 
multicellular organism development IEA
Inferred from Electronic Annotation
more info
 
regulation of ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
sodium ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
sperm-egg recognition TAS
Traceable Author Statement
more info
 
spermatogenesis IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
CatSper complex ISS
Inferred from Sequence or Structural Similarity
more info
 
motile cilium IEA
Inferred from Electronic Annotation
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 
Preferred Names
cation channel sperm-associated protein 2
Names
sperm ion channel

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_009283.1 RefSeqGene

    Range
    4958..23280
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001282309.2NP_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/Swiss-Prot
    Q96P56
    Related
    ENSP00000321463.5, OTTHUMP00000066276, ENST00000321596.6
    Conserved Domains (1) summary
    pfam00520
    Location:172350
    Ion_trans; Ion transport protein
  2. NM_001282310.2NP_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
    F8W9H2
    Related
    ENSP00000371180.1, OTTHUMP00000066278, ENST00000381761.6
    Conserved Domains (1) summary
    pfam00520
    Location:178356
    Ion_trans; Ion transport protein
  3. NM_172095.3NP_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
    Q96P56
    Related
    ENSP00000380088.2, OTTHUMP00000066277, ENST00000396879.6
    Conserved Domains (1) summary
    pfam00520
    Location:172350
    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, OTTHUMT00000133152

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p12 Primary Assembly

    Range
    43630562..43648884 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.
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