CATSPERB cation channel sperm associated auxiliary subunit beta [Homo sapiens (human)] - Gene

Summary

Official Symbol: CATSPERBprovided by HGNC
Official Full Name: cation channel sperm associated auxiliary subunit betaprovided by HGNC
Primary source: HGNC:HGNC:20500
See related: Ensembl:ENSG00000133962 MIM:611169; AllianceGenome:HGNC:20500
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: C14orf161; CatSper(beta)
Summary: Predicted to be involved in cell differentiation and spermatogenesis. Predicted to be located in plasma membrane. Predicted to be part of CatSper complex. Predicted to be active in cilium. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in testis (RPKM 2.2), gall bladder (RPKM 1.6) and 12 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 14q32.12

Exon count:: 27

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	14	NC_000014.9 (91580698..91732086, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	14	NC_060938.1 (85805904..85961560, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	14	NC_000014.8 (92047042..92198430, complement)

Chromosome 14 - NC_000014.9 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?

Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
Title: Genome-wide association study of bone mineral density in premenopausal European-American women and replication in African-American women.

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

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

SHGC-143431 (e-PCR)
- UniSTS:174081

G35485 (e-PCR)
- UniSTS:52494

G35722 (e-PCR)
- UniSTS:56357

SHGC-1415 (e-PCR)
- UniSTS:173362

RH119171 (e-PCR)
- UniSTS:139062

G35406 (e-PCR)
- UniSTS:13376

RH99035 (e-PCR)
- UniSTS:85840

SHGC-110388 (e-PCR)
- UniSTS:167827

D14S300 (e-PCR)
- UniSTS:148667

G36228 (e-PCR)
- UniSTS:27103

D14S280 (e-PCR), detects polymorphism
- UniSTS:54012

Gene Ontology Provided by GOA

Process	Evidence Code	Pubs
involved_in cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in spermatogenesis	IEA Inferred from Electronic Annotation 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 cilium	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	TAS Traceable Author Statement 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 auxiliary subunit beta

Names: catSper-beta; cation channel sperm-associated protein subunit beta; cation channel, sperm associated beta; catsper channel auxiliary subunit beta

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_024764.4 → NP_079040.2 cation channel sperm-associated auxiliary subunit beta precursor

See identical proteins and their annotated locations for NP_079040.2

Status: VALIDATED

Source sequence(s)

AK126034, AL133373, BC126214, BI559703

Consensus CDS

CCDS32142.1

UniProtKB/Swiss-Prot

A0AV51, Q9H7T0

UniProtKB/TrEMBL

B3KWW9

Related

ENSP00000256343.3, ENST00000256343.8

Conserved Domains (1) summary

pfam15149
Location:569 → 1086

CATSPERB; Cation channel sperm-associated protein subunit beta protein family