Aliases for CATSPERB Gene

Aliases for CATSPERB Gene

  • Cation Channel Sperm Associated Auxiliary Subunit Beta 2 3 5
  • Cation Channel Sperm-Associated Protein Subunit Beta 3 4
  • Catsper Channel Auxiliary Subunit Beta 2 3
  • CatSper-Beta 3 4
  • C14orf161 3 4
  • Cation Channel, Sperm-Associated, Beta 2
  • Cation Channel, Sperm Associated Beta 3
  • Chromosome 14 Open Reading Frame 161 2
  • CatSper(Beta) 3
  • CATSPERB 5
  • FLJ14298 2

External Ids for CATSPERB Gene

Previous HGNC Symbols for CATSPERB Gene

  • C14orf161

Previous GeneCards Identifiers for CATSPERB Gene

  • GC14M091117
  • GC14M092047
  • GC14M072223

Summaries for CATSPERB Gene

GeneCards Summary for CATSPERB Gene

CATSPERB (Cation Channel Sperm Associated Auxiliary Subunit Beta) is a Protein Coding gene. Diseases associated with CATSPERB include Hidradenitis Suppurativa and Hidradenitis. Among its related pathways are Reproduction.

UniProtKB/Swiss-Prot Summary for CATSPERB Gene

  • Probably involved in sperm cell hyperactivation via its association with CATSPER1. Sperm cell hyperactivation is needed for sperm motility which is essential late in the preparation of sperm for fertilization.

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CATSPERB Gene

Genomics for CATSPERB Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CATSPERB Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH14J091779 Enhancer 0.8 Ensembl ENCODE 256.4 +0.2 177 1.4 CEBPA ATF3 YY1 CEBPB FOXA2 RXRA JUND HNF4A HMG20A FOXA1 CATSPERB HSALNG0103220 FBLN5 TC2N PPP4R3A
GH14J091732 Promoter 0.3 EPDnew 250.3 +48.6 48618 0.1 CATSPERB TC2N FBLN5 PPP4R3A ENSG00000275154 HSALNG0103215
GH14J092038 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 10.1 -259.1 -259093 4 BCLAF1 ZNF207 MYC ZNF600 POLR2A YY1 MXD4 SMAD5 KLF11 SIN3A TRIP11 lnc-CPSF2-5 lnc-ATXN3-4 piR-43843 ATXN3 PPP4R3A CPSF2 GOLGA5 TC2N CATSPERB
GH14J091743 Enhancer 1.1 FANTOM5 Ensembl ENCODE 16.4 +35.9 35896 3.2 ATF2 ZNF10 ZIC2 ZNF639 ZNF217 FOXA2 CTBP1 ZNF843 FOSL2 NFE2 TC2N TRIP11 CATSPERB FBLN5 PPP4R3A ATXN3 HSALNG0103215 ENSG00000275154
GH14J091753 Enhancer 1 Ensembl ENCODE 16.9 +25.2 25233 4.9 CEBPA ATF3 BRCA1 YY1 CEBPB MAX ZNF217 EP300 FOXA2 CTBP1 TC2N CATSPERB PPP4R3A ATXN3 ENSG00000260711 HSALNG0103215 ENSG00000275154
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CATSPERB on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CATSPERB

Top Transcription factor binding sites by QIAGEN in the CATSPERB gene promoter:
  • aMEF-2
  • C/EBPalpha
  • Chx10
  • E47
  • Evi-1
  • ITF-2
  • MEF-2A
  • Tal-1
  • Tal-1beta
  • TBP

Genomic Locations for CATSPERB Gene

Latest Assembly
chr14:91,580,696-91,780,707
(GRCh38/hg38)
Size:
200,012 bases
Orientation:
Minus strand

Previous Assembly
chr14:92,047,042-92,198,430
(GRCh37/hg19 by Entrez Gene)
Size:
151,389 bases
Orientation:
Minus strand

chr14:92,047,040-92,247,051
(GRCh37/hg19 by Ensembl)
Size:
200,012 bases
Orientation:
Minus strand

Alternative Locations (GRCh38/hg38)

  • chr14(ALT_REF_LOCI_1):44,834-199,881 (-)

Genomic View for CATSPERB Gene

Genes around CATSPERB on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CATSPERB Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CATSPERB Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CATSPERB Gene

Proteins for CATSPERB Gene

  • Protein details for CATSPERB Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H7T0-CTSRB_HUMAN
    Recommended name:
    Cation channel sperm-associated protein subunit beta
    Protein Accession:
    Q9H7T0
    Secondary Accessions:
    • A0AV51

    Protein attributes for CATSPERB Gene

    Size:
    1116 amino acids
    Molecular mass:
    126924 Da
    Quaternary structure:
    • Component of the CatSper complex.

    Alternative splice isoforms for CATSPERB Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CATSPERB Gene

Post-translational modifications for CATSPERB Gene

  • Glycosylation at Asn90, Asn100, Asn118, Asn226, and Asn321
  • Modification sites at PhosphoSitePlus

Other Protein References for CATSPERB Gene

No data available for DME Specific Peptides for CATSPERB Gene

Domains & Families for CATSPERB Gene

Gene Families for CATSPERB Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Transporters

Protein Domains for CATSPERB Gene

InterPro:

Suggested Antigen Peptide Sequences for CATSPERB Gene

GenScript: Design optimal peptide antigens:
  • Cation channel sperm-associated protein subunit beta (CTSRB_HUMAN)
genes like me logo Genes that share domains with CATSPERB: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for CATSPERB Gene

Function for CATSPERB Gene

Molecular function for CATSPERB Gene

UniProtKB/Swiss-Prot Function:
Probably involved in sperm cell hyperactivation via its association with CATSPER1. Sperm cell hyperactivation is needed for sperm motility which is essential late in the preparation of sperm for fertilization.

Phenotypes From GWAS Catalog for CATSPERB Gene

genes like me logo Genes that share phenotypes with CATSPERB: view

miRNA for CATSPERB Gene

miRTarBase miRNAs that target CATSPERB

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CATSPERB

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CATSPERB Gene

Localization for CATSPERB Gene

Subcellular locations from UniProtKB/Swiss-Prot for CATSPERB Gene

Membrane. Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CATSPERB gene
Compartment Confidence
plasma membrane 5
endoplasmic reticulum 0

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for CATSPERB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005929 cilium IBA 21873635
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0036128 CatSper complex IEA,ISS --
genes like me logo Genes that share ontologies with CATSPERB: view

Pathways & Interactions for CATSPERB Gene

PathCards logo

SuperPathways for CATSPERB Gene

SuperPathway Contained pathways
1 Reproduction
genes like me logo Genes that share pathways with CATSPERB: view

Pathways by source for CATSPERB Gene

3 Reactome pathways for CATSPERB Gene

Gene Ontology (GO) - Biological Process for CATSPERB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007275 multicellular organism development IEA --
GO:0007283 spermatogenesis IEA --
GO:0030154 cell differentiation IEA --
GO:0032570 response to progesterone TAS --
GO:0035036 sperm-egg recognition TAS --
genes like me logo Genes that share ontologies with CATSPERB: view

No data available for SIGNOR curated interactions for CATSPERB Gene

Drugs & Compounds for CATSPERB Gene

No Compound Related Data Available

Transcripts for CATSPERB Gene

mRNA/cDNA for CATSPERB Gene

1 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CATSPERB

Alternative Splicing Database (ASD) splice patterns (SP) for CATSPERB Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^ 25 ^
SP1:
SP2: -

ExUns: 26 ^ 27a · 27b
SP1:
SP2:

Relevant External Links for CATSPERB Gene

GeneLoc Exon Structure for
CATSPERB

Expression for CATSPERB Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CATSPERB Gene

mRNA differential expression in normal tissues according to GTEx for CATSPERB Gene

This gene is overexpressed in Pancreas (x17.1), Artery - Aorta (x4.7), and Minor Salivary Gland (x4.4).

Protein differential expression in normal tissues from HIPED for CATSPERB Gene

This gene is overexpressed in Plasma (22.3), Ovary (11.4), Adipocyte (10.0), NK cells (7.5), and Prostate (6.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CATSPERB Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CATSPERB

SOURCE GeneReport for Unigene cluster for CATSPERB Gene:

Hs.131755
genes like me logo Genes that share expression patterns with CATSPERB: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for CATSPERB Gene

Orthologs for CATSPERB Gene

This gene was present in the common ancestor of chordates.

Orthologs for CATSPERB Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia CATSPERB 29 30
  • 99.4 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia CATSPERB 29 30
  • 81.38 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia CATSPERB 29 30
  • 81.35 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Catsperb 29 16 30
  • 70.02 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia LOC100910102 29
  • 67.31 (n)
Oppossum
(Monodelphis domestica)
Mammalia -- 30
  • 49 (a)
OneToMany
-- 30
  • 45 (a)
OneToMany
Platypus
(Ornithorhynchus anatinus)
Mammalia CATSPERB 30
  • 44 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia CATSPERB 30
  • 42 (a)
OneToOne
Species where no ortholog for CATSPERB was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)
  • Zebrafish (Danio rerio)

Evolution for CATSPERB Gene

ENSEMBL:
Gene Tree for CATSPERB (if available)
TreeFam:
Gene Tree for CATSPERB (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CATSPERB: view image
Alliance of Genome Resources:
Additional Orthologs for CATSPERB

Paralogs for CATSPERB Gene

Pseudogenes.org Pseudogenes for CATSPERB Gene

genes like me logo Genes that share paralogs with CATSPERB: view

No data available for Paralogs for CATSPERB Gene

Variants for CATSPERB Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CATSPERB Gene

SNP ID Clinical significance and condition Chr 14 pos Variation AA Info Type
rs57706558 -- p.Phe318Tyr

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for CATSPERB Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for CATSPERB Gene

Variant ID Type Subtype PubMed ID
esv1003307 CNV insertion 20482838
esv1421109 CNV insertion 17803354
esv2430078 CNV insertion 19546169
esv2589440 CNV deletion 19546169
esv3581388 CNV loss 25503493
esv3635327 CNV gain 21293372
nsv1396 CNV insertion 18451855
nsv480161 CNV novel sequence insertion 20440878
nsv480224 CNV novel sequence insertion 20440878
nsv480894 CNV novel sequence insertion 20440878
nsv481336 CNV novel sequence insertion 20440878
nsv974365 CNV duplication 23825009

Variation tolerance for CATSPERB Gene

Residual Variation Intolerance Score: 4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.47; 71.63% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CATSPERB Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CATSPERB
Leiden Open Variation Database (LOVD)
CATSPERB

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CATSPERB Gene

Disorders for CATSPERB Gene

MalaCards: The human disease database

(2) MalaCards diseases for CATSPERB Gene - From: COP and GCD

Disorder Aliases PubMed IDs
hidradenitis suppurativa
  • acne inversa, familial
hidradenitis
  • hydradenitis
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for CATSPERB

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with CATSPERB: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CATSPERB Gene

Publications for CATSPERB Gene

  1. CatSperbeta, a novel transmembrane protein in the CatSper channel complex. (PMID: 17478420) Liu J … Ren D (The Journal of biological chemistry 2007) 2 3
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  3. Apocrine glands are bystanders in hidradenitis suppurativa and their involvement is gender specific. (PMID: 32031713) Zouboulis CC … Zouboulis KC (Journal of the European Academy of Dermatology and Venereology : JEADV 2020) 3
  4. The midbody interactome reveals unexpected roles for PP1 phosphatases in cytokinesis. (PMID: 31586073) Capalbo L … D'Avino PP (Nature communications 2019) 3
  5. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. (PMID: 21873635) Gaudet P … Thomas PD (Briefings in bioinformatics 2011) 3

Products for CATSPERB Gene

Sources for CATSPERB Gene