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

Summary

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 act upstream of or within establishment of localization in cell. 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, Nov 2024]
Expression: Restricted expression toward testis (RPKM 2.4) See more
Orthologs: mouse all
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Genomic context

Location:: 1p36.11

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (26190602..26202964)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (26028026..26040391)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (26517093..26529455)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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

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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 EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D1S1309 (e-PCR)
- UniSTS:149506

STS-R48282 (e-PCR)
- UniSTS:81513

A006D29 (e-PCR)
- UniSTS:55922

RH92197 (e-PCR)
- UniSTS:89525

G32327 (e-PCR)
- UniSTS:116920

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
enables voltage-gated calcium channel activity	ISS Inferred from Sequence or Structural Similarity 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
acts_upstream_of_or_within sodium ion transport	ISS Inferred from Sequence or Structural Similarity 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

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Preferred Names: cation channel sperm-associated protein 4

Names: ion channel CatSper4

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.

mRNA and Protein(s)

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_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000001.11 Reference GRCh38.p14 Primary Assembly

Range

26190602..26202964

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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