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

    Gene ID: 79820, updated on 10-Dec-2024

    Summary

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    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 sperm principal piece. Predicted to be part of CatSper complex. Predicted to be active in cilium. [provided by Alliance of Genome Resources, Dec 2024]
    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

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    See CATSPERB in Genome Data Viewer
    Location:
    14q32.12
    Exon count:
    27
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (91580698..91732086, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (85805904..85961560, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (92047042..92198430, complement)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene protein phosphatase 4 regulatory subunit 3A Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8922 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8923 Neighboring gene ReSE screen-validated silencer GRCh37_chr14:91963914-91964077 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:91975254-91975905 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:91975906-91976556 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6030 Neighboring gene uncharacterized LOC101928957 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:92023369-92023910 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:92023911-92024452 Neighboring gene NANOG hESC enhancer GRCh37_chr14:92036233-92036734 Neighboring gene RNA polymerase III subunit G pseudogene 1 Neighboring gene Nanog homeobox pseudogene 7 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:92111704-92112298 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:92112299-92112891 Neighboring gene pyruvate dehydrogenase kinase 3 pseudogene Neighboring gene small nucleolar RNA U3 Neighboring gene MPRA-validated peak2233 silencer Neighboring gene tandem C2 domains, nuclear Neighboring gene uncharacterized LOC124903362 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8925 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:92363455-92363968 Neighboring gene fibulin 5 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:92392675-92393174

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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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    Related articles in PubMed

    1. Genome-wide association study of bone mineral density in premenopausal European-American women and replication in African-American women. Koller DL, et al. J Clin Endocrinol Metab, 2010 Apr. PMID 20164292, Free PMC Article
    2. CatSperbeta, a novel transmembrane protein in the CatSper channel complex. Liu J, et al. J Biol Chem, 2007 Jun 29. PMID 17478420
    3. Apocrine glands are bystanders in hidradenitis suppurativa and their involvement is gender specific. Zouboulis CC, et al. J Eur Acad Dermatol Venereol, 2020 Jul. PMID 32031713
    4. Expression of conjoined genes: another mechanism for gene regulation in eukaryotes. Prakash T, et al. PLoS One, 2010 Oct 12. PMID 20967262, Free PMC Article
    5. Shotgun sequencing of the human transcriptome with ORF expressed sequence tags. Dias Neto E, et al. Proc Natl Acad Sci U S A, 2000 Mar 28. PMID 10737800, Free PMC Article

    See all (10) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. 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

    Homology

    Clone Names

    • FLJ14298

    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)

    1. 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

    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

    1. NC_000014.9 Reference GRCh38.p14 Primary Assembly

      Range
      91580698..91732086 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_1

    Genomic

    1. NT_187598.1 Reference GRCh38.p14 ALT_REF_LOCI_1

      Range
      44834..199881 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      85805904..85961560 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9H7T0.2 GenPept UniProtKB/Swiss-Prot:Q9H7T0

    Gene LinkOut

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

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