Aliases for CATSPERD Gene

Aliases for CATSPERD Gene

  • Cation Channel Sperm Associated Auxiliary Subunit Delta 2 3 5
  • Transmembrane Protein 146 2 3 4
  • Cation Channel Sperm-Associated Protein Subunit Delta 3 4
  • Catsper Channel Auxiliary Subunit Delta 2 3
  • CatSper-Delta 3 4
  • CatSperdelta 3 4
  • TMEM146 3 4
  • CATSPERD 5
  • MGC39581 2

External Ids for CATSPERD Gene

Previous HGNC Symbols for CATSPERD Gene

  • TMEM146

Summaries for CATSPERD Gene

GeneCards Summary for CATSPERD Gene

CATSPERD (Cation Channel Sperm Associated Auxiliary Subunit Delta) is a Protein Coding gene. Diseases associated with CATSPERD include Codas Syndrome and Phosphoglycerate Kinase 1 Deficiency. Among its related pathways are Reproduction.

UniProtKB/Swiss-Prot Summary for CATSPERD Gene

  • Auxiliary component of the CatSper complex, a complex involved in sperm cell hyperactivation. Sperm cell hyperactivation is needed for sperm motility which is essential late in the preparation of sperm for fertilization. Required for CATSPER1 stability before intraflagellar transport and/or incorporation of the CatSper complex channel into the flagellar membrane.

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

Genomics for CATSPERD Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CATSPERD Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

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

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

Genomic Locations for CATSPERD Gene

Latest Assembly
chr19:5,720,156-5,778,734
(GRCh38/hg38)
Size:
58,579 bases
Orientation:
Plus strand

Previous Assembly
chr19:5,720,648-5,778,745
(GRCh37/hg19 by Entrez Gene)
Size:
58,098 bases
Orientation:
Plus strand

chr19:5,720,688-5,778,745
(GRCh37/hg19 by Ensembl)
Size:
58,058 bases
Orientation:
Plus strand

Genomic View for CATSPERD Gene

Genes around CATSPERD on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for CATSPERD Gene

Proteins for CATSPERD Gene

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

    Protein Symbol:
    Q86XM0-CTSRD_HUMAN
    Recommended name:
    Cation channel sperm-associated protein subunit delta
    Protein Accession:
    Q86XM0
    Secondary Accessions:
    • Q6ZRP1

    Protein attributes for CATSPERD Gene

    Size:
    798 amino acids
    Molecular mass:
    90468 Da
    Quaternary structure:
    • Component of the CatSper complex.
    SequenceCaution:
    • Sequence=AAH43005.2; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for CATSPERD Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CATSPERD Gene

Post-translational modifications for CATSPERD Gene

  • Glycosylation at Asn472, Asn538, and Asn240
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for CATSPERD Gene

Domains & Families for CATSPERD Gene

Gene Families for CATSPERD Gene

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

Protein Domains for CATSPERD Gene

InterPro:

Suggested Antigen Peptide Sequences for CATSPERD Gene

GenScript: Design optimal peptide antigens:
  • TMEM146 protein (Q8NEF4_HUMAN)
  • Transmembrane protein 146 (TM146_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q86XM0

UniProtKB/Swiss-Prot:

CTSRD_HUMAN :
  • Belongs to the CATSPERD family.
Family:
  • Belongs to the CATSPERD family.
genes like me logo Genes that share domains with CATSPERD: view

Function for CATSPERD Gene

Molecular function for CATSPERD Gene

UniProtKB/Swiss-Prot Function:
Auxiliary component of the CatSper complex, a complex involved in sperm cell hyperactivation. Sperm cell hyperactivation is needed for sperm motility which is essential late in the preparation of sperm for fertilization. Required for CATSPER1 stability before intraflagellar transport and/or incorporation of the CatSper complex channel into the flagellar membrane.

Phenotypes From GWAS Catalog for CATSPERD Gene

Gene Ontology (GO) - Molecular Function for CATSPERD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with CATSPERD: view
genes like me logo Genes that share phenotypes with CATSPERD: view

Animal Models for CATSPERD Gene

MGI Knock Outs for CATSPERD:

Inhibitory RNAs for research

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

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for CATSPERD Gene

Localization for CATSPERD Gene

Subcellular locations from UniProtKB/Swiss-Prot for CATSPERD Gene

Cell projection, cilium, flagellum membrane. Single-pass type I membrane protein. Note=Specifically located in the principal piece of sperm tail. {ECO:0000250 UniProtKB:E9Q9F6}.

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 CATSPERD gene
Compartment Confidence
plasma membrane 5

Gene Ontology (GO) - Cellular Components for CATSPERD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005929 cilium IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0031514 motile cilium IEA --
genes like me logo Genes that share ontologies with CATSPERD: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CATSPERD Gene

Pathways & Interactions for CATSPERD Gene

PathCards logo

SuperPathways for CATSPERD Gene

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

Pathways by source for CATSPERD Gene

3 Reactome pathways for CATSPERD Gene

Interacting Proteins for CATSPERD Gene

Gene Ontology (GO) - Biological Process for CATSPERD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007275 multicellular organism development IEA --
GO:0007283 spermatogenesis ISS --
GO:0030154 cell differentiation IEA --
GO:0030317 flagellated sperm motility ISS --
GO:0032570 response to progesterone TAS --
genes like me logo Genes that share ontologies with CATSPERD: view

No data available for SIGNOR curated interactions for CATSPERD Gene

Drugs & Compounds for CATSPERD Gene

No Compound Related Data Available

Transcripts for CATSPERD Gene

mRNA/cDNA for CATSPERD Gene

1 REFSEQ mRNAs :
3 NCBI additional mRNA sequence :
3 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 CATSPERD

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

No ASD Table

Relevant External Links for CATSPERD Gene

GeneLoc Exon Structure for
CATSPERD

Expression for CATSPERD Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Testis (x39.8).

Protein differential expression in normal tissues from HIPED for CATSPERD Gene

This gene is overexpressed in Testis (69.0).

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



Protein tissue co-expression partners for CATSPERD Gene

- Elite partner

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

SOURCE GeneReport for Unigene cluster for CATSPERD Gene:

Hs.631842
genes like me logo Genes that share expression patterns with CATSPERD: view

Primer products for research

No data available for mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for CATSPERD Gene

Orthologs for CATSPERD Gene

This gene was present in the common ancestor of chordates.

Orthologs for CATSPERD Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia CATSPERD 29
  • 96.12 (n)
Dog
(Canis familiaris)
Mammalia CATSPERD 29 30
  • 76.97 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia CATSPERD 29 30
  • 74.94 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Catsperd 29
  • 62.58 (n)
Mouse
(Mus musculus)
Mammalia Catsperd 29 16 30
  • 61.91 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia CATSPERD 30
  • 39 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia CATSPERD 30
  • 33 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia -- 30
  • 40 (a)
OneToMany
-- 30
  • 35 (a)
OneToMany
-- 30
  • 34 (a)
OneToMany
Species where no ortholog for CATSPERD 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 CATSPERD Gene

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

Paralogs for CATSPERD Gene

(19) SIMAP similar genes for CATSPERD Gene using alignment to 2 proteins:

  • CTSRD_HUMAN
  • F5GZE9_HUMAN
genes like me logo Genes that share paralogs with CATSPERD: view

No data available for Paralogs for CATSPERD Gene

Variants for CATSPERD Gene

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

SNP ID Clinical significance and condition Chr 19 pos Variation AA Info Type
930532 Likely Benign: CODAS syndrome 5,720,218(+) C/T
NM_001276480.1(LONP1):c.-160+1G>A
SPLICE_DONOR
rs17854252 -- p.Thr504Ala
rs2305925 -- p.Thr743Ser
rs57680462 -- p.Met212Thr

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

Variant ID Type Subtype PubMed ID
dgv1697n106 CNV tandem duplication 24896259
esv1495928 CNV insertion 17803354
esv2718046 CNV deletion 23290073
esv2718047 CNV deletion 23290073
esv2718048 CNV deletion 23290073
esv3555932 CNV deletion 23714750
esv3643537 CNV loss 21293372
esv3643538 CNV loss 21293372
nsv1062851 CNV gain 25217958
nsv1071900 CNV deletion 25765185
nsv1131390 CNV deletion 24896259
nsv1138660 CNV deletion 24896259
nsv1142251 CNV tandem duplication 24896259
nsv470119 CNV loss 18288195
nsv525707 CNV loss 19592680

Variation tolerance for CATSPERD Gene

Residual Variation Intolerance Score: 96.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.32; 85.28% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CATSPERD Gene

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

SNP Genotyping and Copy Number Assays for research

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

Disorders for CATSPERD Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
codas syndrome
  • cerebral, ocular, dental, auricular, and skeletal anomalies syndrome
phosphoglycerate kinase 1 deficiency
  • pgk1 deficiency
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for CATSPERD

genes like me logo Genes that share disorders with CATSPERD: view

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

Publications for CATSPERD Gene

  1. A novel gene required for male fertility and functional CATSPER channel formation in spermatozoa. (PMID: 21224844) Chung JJ … Clapham DE (Nature communications 2011) 2 3
  2. Interactome Mapping Provides a Network of Neurodegenerative Disease Proteins and Uncovers Widespread Protein Aggregation in Affected Brains. (PMID: 32814053) Haenig C … Wanker EE (Cell reports 2020) 3
  3. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3
  4. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T … Vidal M (Cell 2014) 3
  5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3

Products for CATSPERD Gene

Sources for CATSPERD Gene