CATSPERZ catsper channel auxiliary subunit zeta [Homo sapiens (human)] - Gene

Summary

Official Symbol: CATSPERZprovided by HGNC
Official Full Name: catsper channel auxiliary subunit zetaprovided by HGNC
Primary source: HGNC:HGNC:19231
See related: Ensembl:ENSG00000219435 MIM:617511; AllianceGenome:HGNC:19231
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
Also known as: TEX40; C11orf20
Summary: Predicted to be involved in flagellated sperm motility; male meiotic nuclear division; and sperm capacitation. Located in cytoplasm and sperm principal piece. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Restricted expression toward testis (RPKM 183.9) See more
Orthologs: mouse all
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Genomic context

Location:: 11q13.1

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (64300358..64304770)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (64290326..64294737)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (64067830..64072242)

Chromosome 11 - NC_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Low TEX40 expression is associated with asthenozoospermia.
Title: Proteomic analyses reveal lower expression of TEX40 and ATP6V0A2 proteins related to calcium ion entry and acrosomal acidification in asthenozoospermic males.
The frequency of the ESRRA/C11orf20 gene fusion in serous ovarian carcinomas of stages III and IV must be very low.
Title: Low frequency of ESRRA-C11orf20 fusion gene in ovarian carcinomas.
ESRRA-C11orf20, a gene fusion between ESRRA and C11orf20 (TEX40) is recurrent serous ovarian carcinoma.
Title: ESRRA-C11orf20 is a recurrent gene fusion in serous ovarian carcinoma.

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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

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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Readthrough KCNK4-CATSPERZ

Readthrough gene: KCNK4-CATSPERZ, Included gene: KCNK4

Gene Ontology Provided by GOA

Process	Evidence Code	Pubs
involved_in flagellated sperm motility	IBA Inferred from Biological aspect of Ancestor more info
involved_in flagellated sperm motility	ISS Inferred from Sequence or Structural Similarity more info
involved_in male meiotic nuclear division	ISS Inferred from Sequence or Structural Similarity more info
involved_in sperm capacitation	IBA Inferred from Biological aspect of Ancestor more info
involved_in sperm capacitation	ISS Inferred from Sequence or Structural Similarity more info
involved_in spermatogenesis	ISS Inferred from Sequence or Structural Similarity 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
located_in cytoplasm	IDA Inferred from Direct Assay more info
is_active_in sperm principal piece	IBA Inferred from Biological aspect of Ancestor more info
located_in sperm principal piece	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: cation channel sperm-associated auxiliary subunit zeta

Names: catSper-zeta; catSperzeta; cation channel sperm-associated protein subunit zeta; testis expressed 40; testis-expressed protein 40; testis-expressed sequence 40 protein

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.