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

Gene ID: 117155, updated on 8-Jul-2021

Summary

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
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

See CATSPER2 in Genome Data Viewer
Location:
15q15.3
Exon count:
14
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 15 NC_000015.10 (43628503..43648884, complement)
105.20201022 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 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

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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 calcium channel activity IEA
Inferred from Electronic Annotation
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables voltage-gated ion channel activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
involved_in calcium ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
involved_in fertilization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in flagellated sperm motility IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in regulation of ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
involved_in sperm capacitation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
part_of CatSper complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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

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_009283.1 RefSeqGene

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

mRNA and Protein(s)

  1. NM_001282309.3NP_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, 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, ENST00000381761.6
    Conserved Domains (1) summary
    pfam00520
    Location:178356
    Ion_trans; Ion transport protein
  3. NM_172095.4NP_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
    ENSP00000380088.3, ENST00000396879.8
    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

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p13 Primary Assembly

    Range
    43628503..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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