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Aliases for CATSPER2P1 Gene

Aliases for CATSPER2P1 Gene

  • Cation Channel Sperm Associated 2 Pseudogene 1 2 3
  • Cation Channel, Sperm Associated 2 Pseudogene 1 2 5

External Ids for CATSPER2P1 Gene

Previous GeneCards Identifiers for CATSPER2P1 Gene

  • GC15U900629
  • GC15M041817
  • GC15M044019
  • GC15M020851

Summaries for CATSPER2P1 Gene

Entrez Gene Summary for CATSPER2P1 Gene

  • Catsper genes belong to a family of putative cation channels that are specific to spermatozoa and localize to the flagellum. This gene is part of a tandem repeat on chromosome 15q15; this copy of the gene is thought to be a pseudogene. [provided by RefSeq, Oct 2008]

GeneCards Summary for CATSPER2P1 Gene

CATSPER2P1 (Cation Channel Sperm Associated 2 Pseudogene 1) is a Pseudogene.

No data available for UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CATSPER2P1 Gene

Genomics for CATSPER2P1 Gene

Regulatory Elements for CATSPER2P1 Gene

Promoters for CATSPER2P1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around CATSPER2P1 on UCSC Golden Path with GeneCards custom track

Genomic Location for CATSPER2P1 Gene

Chromosome:
15
Start:
43,726,918 bp from pter
End:
43,747,094 bp from pter
Size:
20,177 bases
Orientation:
Minus strand

Genomic View for CATSPER2P1 Gene

Genes around CATSPER2P1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CATSPER2P1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CATSPER2P1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CATSPER2P1 Gene

Proteins for CATSPER2P1 Gene

Post-translational modifications for CATSPER2P1 Gene

No Post-translational modifications

No data available for DME Specific Peptides for CATSPER2P1 Gene

Domains & Families for CATSPER2P1 Gene

Graphical View of Domain Structure for InterPro Entry

No data available for Gene Families , Protein Domains , Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for CATSPER2P1 Gene

Function for CATSPER2P1 Gene

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Phenotypes , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for CATSPER2P1 Gene

Localization for CATSPER2P1 Gene

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from COMPARTMENTS and Gene Ontology (GO) - Cellular Components for CATSPER2P1 Gene

Pathways & Interactions for CATSPER2P1 Gene

SuperPathways for CATSPER2P1 Gene

No Data Available

Interacting Proteins for CATSPER2P1 Gene

Gene Ontology (GO) - Biological Process for CATSPER2P1 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for CATSPER2P1 Gene

Drugs & Compounds for CATSPER2P1 Gene

No Compound Related Data Available

Transcripts for CATSPER2P1 Gene

mRNA/cDNA for CATSPER2P1 Gene

(4) Additional mRNA sequences :
(1) Selected AceView cDNA sequences:
(5) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for CATSPER2P1 Gene

Cation channel, sperm associated 2 pseudogene 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for CATSPER2P1 Gene

No ASD Table

Relevant External Links for CATSPER2P1 Gene

GeneLoc Exon Structure for
CATSPER2P1
ECgene alternative splicing isoforms for
CATSPER2P1

Expression for CATSPER2P1 Gene

mRNA expression in normal human tissues for CATSPER2P1 Gene

SOURCE GeneReport for Unigene cluster for CATSPER2P1 Gene Hs.253260

genes like me logo Genes that share expression patterns with CATSPER2P1: view

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners for CATSPER2P1 Gene

Orthologs for CATSPER2P1 Gene

Evolution for CATSPER2P1 Gene

ENSEMBL:
Gene Tree for CATSPER2P1 (if available)
TreeFam:
Gene Tree for CATSPER2P1 (if available)

No data available for Orthologs for CATSPER2P1 Gene

Paralogs for CATSPER2P1 Gene

No data available for Paralogs for CATSPER2P1 Gene

Variants for CATSPER2P1 Gene

Sequence variations from dbSNP and Humsavar for CATSPER2P1 Gene

SNP ID Clin Chr 15 pos Sequence Context AA Info Type
rs2729519 -- 43,736,534(-) CAACC(C/T)AATTA nc-transcript-variant
rs2729520 -- 43,735,952(-) aaaat(A/C)ccaaa nc-transcript-variant
rs2729528 -- 43,741,121(+) AATAA(A/G)CTTAA intron-variant
rs2729529 -- 43,741,198(+) AGTGA(C/T)CATGT intron-variant
rs2729530 -- 43,741,575(+) cctga(A/T)gccaa intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CATSPER2P1 Gene

Variant ID Type Subtype PubMed ID
dgv741e1 CNV Complex 17122850
dgv742e1 CNV Complex 17122850
dgv2372n71 CNV Gain 21882294
dgv743e1 CNV Complex 17122850
esv33661 CNV Loss 17666407

Relevant External Links for CATSPER2P1 Gene

HapMap Linkage Disequilibrium report
CATSPER2P1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Variation tolerance for CATSPER2P1 Gene

Disorders for CATSPER2P1 Gene

Relevant External Links for CATSPER2P1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CATSPER2P1

No disorders were found for CATSPER2P1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for CATSPER2P1 Gene

Publications for CATSPER2P1 Gene

  1. Evolutionary genomics reveals lineage-specific gene loss and rapid evolution of a sperm-specific ion channel complex: CatSpers and CatSperbeta. (PMID: 18974790) Cai X. … Clapham D.E. (PLoS ONE 2008) 3 67
  2. Sensorineural deafness and male infertility: a contiguous gene deletion syndrome. (PMID: 17098888) Zhang Y. … Smith R.J.H. (J. Med. Genet. 2007) 3
  3. Comparative genomics search for losses of long-established genes on the human lineage. (PMID: 18085818) Zhu J. … Haussler D. (PLoS Comput. Biol. 2007) 3
  4. CATSPER2, a human autosomal nonsyndromic male infertility gene. (PMID: 12825070) Avidan N. … Beckmann J.S. (Eur. J. Hum. Genet. 2003) 3
  5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg R.L. … Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 3

Products for CATSPER2P1 Gene

Sources for CATSPER2P1 Gene

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