U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

CATSPER4 cation channel sperm associated 4 [ Homo sapiens (human) ]

Gene ID: 378807, updated on 5-Mar-2024

Summary

Go to the top of the page Help
Official Symbol
CATSPER4provided by HGNC
Official Full Name
cation channel sperm associated 4provided by HGNC
Primary source
HGNC:HGNC:23220
See related
Ensembl:ENSG00000188782 MIM:609121; AllianceGenome:HGNC:23220
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
Predicted to enable voltage-gated calcium channel activity. Predicted to be involved in flagellated sperm motility; sodium ion transport; and sperm capacitation. Predicted to be located in plasma membrane. Predicted to be part of CatSper complex. Predicted to be active in acrosomal vesicle and sperm principal piece. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Restricted expression toward testis (RPKM 2.4) See more
Orthologs
mouse all
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
See CATSPER4 in Genome Data Viewer
Location:
1p36.11
Exon count:
11
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (26190602..26202964)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (26028026..26040391)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (26517093..26529455)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ZNF593 opposite strand Neighboring gene zinc finger protein 593 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:26508561-26509062 Neighboring gene connector enhancer of kinase suppressor of Ras 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:26516979-26517796 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:26524463-26524962 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:26527946-26528918 Neighboring gene ADP ribosylation factor like GTPase 16 pseudogene Neighboring gene uncharacterized LOC124903882 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:26551137-26551642 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:26551643-26552147

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • 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

Go to the top of the pageHelp

Related articles in PubMed

  1. Identification of human and mouse CatSper3 and CatSper4 genes: characterisation of a common interaction domain and evidence for expression in testis. Lobley A, et al. Reprod Biol Endocrinol, 2003 Aug 1. PMID 12932298, Free PMC Article
  2. International Union of Pharmacology. L. Nomenclature and structure-function relationships of CatSper and two-pore channels. Clapham DE, et al. Pharmacol Rev, 2005 Dec. PMID 16382101
  3. All four CatSper ion channel proteins are required for male fertility and sperm cell hyperactivated motility. Qi H, et al. Proc Natl Acad Sci U S A, 2007 Jan 23. PMID 17227845, Free PMC Article
  4. Meta-analysis of genome-wide scans for human adult stature identifies novel Loci and associations with measures of skeletal frame size. Soranzo N, et al. PLoS Genet, 2009 Apr. PMID 19343178, Free PMC Article
  5. The role of height-associated loci identified in genome wide association studies in the determination of pediatric stature. Zhao J, et al. BMC Med Genet, 2010 Jun 14. PMID 20546612, Free PMC Article

See all (11) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Observational study of gene-disease association. (HuGE Navigator)
    Title: The role of height-associated loci identified in genome wide association studies in the determination of pediatric stature.
  2. Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
    Title: Meta-analysis of genome-wide scans for human adult stature identifies novel Loci and associations with measures of skeletal frame size.
  3. Catsper4 has a single channel-forming domain, a pore-loop with the consensus sequence TxDxW, & a coiled-coil protein-protein interaction domain in the C-terminal tail. CatSpers 1,2,3 & 4 may interact directly or indirectly to form a functional tetramer.
    Title: Identification of human and mouse CatSper3 and CatSper4 genes: characterisation of a common interaction domain and evidence for expression in testis.
Submit: New GeneRIF Correction

Phenotypes

Go to the top of the page Help

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Meta-analysis of genome-wide scans for human adult stature identifies novel Loci and associations with measures of skeletal frame size.
EBI GWAS Catalog

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

Markers

Homology

Clone Names

  • MGC149223

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 IBA
Inferred from Biological aspect of Ancestor
more info
  
Process Evidence Code Pubs
involved_in calcium ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
  
involved_in establishment of localization in cell IEA
Inferred from Electronic Annotation
more info
  
involved_in flagellated sperm motility IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in sodium ion transport 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
  
is_active_in acrosomal vesicle IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in plasma membrane TAS
Traceable Author Statement
more info
  
is_active_in sperm principal piece IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in sperm principal piece ISS
Inferred from Sequence or Structural Similarity
more info
  

General protein information

Go to the top of the page Help
Preferred Names
cation channel sperm-associated protein 4
Names
ion channel CatSper4

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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.

mRNA and Protein(s)

  1. NM_198137.2 → NP_937770.1  cation channel sperm-associated protein 4

    See identical proteins and their annotated locations for NP_937770.1

    Status: VALIDATED

    Source sequence(s)
    AL355877
    Consensus CDS
    CCDS30645.1
    UniProtKB/Swiss-Prot
    A1A4W6, Q5VY71, Q7RTX7
    UniProtKB/TrEMBL
    J3KNU1
    Related
    ENSP00000390423.3, ENST00000456354.7
    Conserved Domains (1) summary
    pfam00520
    Location:91 → 313
    Ion_trans; Ion transport protein

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    26190602..26202964
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011541432.4 → XP_011539734.1  cation channel sperm-associated protein 4 isoform X1

    Related
    ENSP00000341006.2, ENST00000338855.6
    Conserved Domains (1) summary
    pfam00520
    Location:115 → 313
    Ion_trans; Ion transport protein

  2. XM_011541433.3 → XP_011539735.1  cation channel sperm-associated protein 4 isoform X2

    Conserved Domains (1) summary
    pfam00520
    Location:115 → 269
    Ion_trans; Ion transport protein

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    26028026..26040391
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054336484.1 → XP_054192459.1  cation channel sperm-associated protein 4 isoform X2

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q7RTX7.1 GenPept UniProtKB/Swiss-Prot:Q7RTX7

Gene LinkOut

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

Chemical Information
Molecular Biology Databases
Research Materials
Tools
Miscellaneous