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Aliases for CATSPER2P1 Gene

Aliases for CATSPER2P1 Gene

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

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.

Additional gene information for CATSPER2P1 Gene

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

Genomics for CATSPER2P1 Gene

GeneHancer (GH) Regulatory Elements for CATSPER2P1 Gene

Promoters and enhancers for CATSPER2P1 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
GH15I043745 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 550.8 +0.2 193 2.6 HDGF ARID4B SIN3A DMAP1 ZNF2 POLR2B ZNF143 SP3 SP5 NFYC PDIA3 CATSPER2P1 STRCP1 CTDSPL2 WDR76 MFAP1 SPG11 LCMT2 ELL3 ZSCAN29
GH15I043823 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 13.3 -78.9 -78934 5.7 DMAP1 YY1 SLC30A9 E2F8 ZNF143 SP3 NFYC SSRP1 GLIS1 NBN WDR76 MFAP1 SPG11 CTDSPL2 ENSG00000249839 ZSCAN29 ENSG00000259563 ADAL CATSPER2 TUBGCP4
GH15I043183 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 10.8 +561.7 561717 3 HDGF PKNOX1 FOXA2 ARID4B SIN3A DMAP1 POLR2B E2F8 ZNF207 ZNF143 CCNDBP1 ENSG00000261687 CATSPER2P1 ZSCAN29 ADAL EPB42 TMEM62
GH15I044425 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 6.2 -680.7 -680702 3.8 HDGF FOXA2 ARNT SIN3A FEZF1 DMAP1 ZNF2 ZBTB7B YY1 POLR2B CTDSPL2 ENSG00000259595 SPG11 ENSG00000259563 SPATA5L1 WDR76 ENSG00000259659 CATSPER2P1 GC15P044434
GH15I043103 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 6.1 +641.7 641662 3.4 HDGF PKNOX1 SMAD1 ARID4B SIN3A DMAP1 YY1 POLR2B E2F8 ZNF207 UBR1 CCNDBP1 TTBK2 CDAN1 CATSPER2P1 ZSCAN29 EPB42 FDPSP4
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around CATSPER2P1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CATSPER2P1 gene promoter:

Genomic Locations for CATSPER2P1 Gene

Genomic Locations for CATSPER2P1 Gene
chr15:43,726,918-43,747,094
(GRCh38/hg38)
Size:
20,177 bases
Orientation:
Minus strand
chr15:44,019,116-44,039,292
(GRCh37/hg19)

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

Phenotypes From GWAS Catalog for CATSPER2P1 Gene

Animal Model Products

Inhibitory RNA Products

Clone Products

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 , Subcellular locations from the Human Protein Atlas (HPA) 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 :
(2) 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:

Inhibitory RNA Products

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE for CATSPER2P1 Gene

NURSA nuclear receptor signaling pathways regulating expression of CATSPER2P1 Gene:

CATSPER2P1

SOURCE GeneReport for Unigene cluster for CATSPER2P1 Gene:

Hs.253260
genes like me logo Genes that share expression patterns with CATSPER2P1: view

Primer 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 , 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 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 Variation AA Info Type
rs1000065597 -- 43,741,528(-) C/T intron_variant
rs1000174058 -- 43,735,836(-) C/G downstream_transcript_variant
rs1000247491 -- 43,735,519(-) G/A downstream_transcript_variant
rs1000416762 -- 43,741,294(-) C/A intron_variant
rs1000527602 -- 43,737,267(-) A/G intron_variant

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

Variant ID Type Subtype PubMed ID
dgv734e212 CNV loss 25503493
esv2760028 CNV gain+loss 17122850
esv33661 CNV loss 17666407
esv3569520 CNV gain 25503493
esv3636297 CNV gain 21293372
esv3636298 CNV loss 21293372
nsv1134439 CNV deletion 24896259
nsv976928 CNV duplication 23825009

Additional Variant Information for CATSPER2P1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CATSPER2P1

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

Disorders for CATSPER2P1 Gene

Additional Disease Information for 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 DE (PloS one 2008) 3 58
  2. Sensorineural deafness and male infertility: a contiguous gene deletion syndrome. (PMID: 17098888) Zhang Y … Smith RJ (Journal of medical genetics 2007) 3 58
  3. Comparative genomics search for losses of long-established genes on the human lineage. (PMID: 18085818) Zhu J … Haussler D (PLoS computational biology 2007) 3 58
  4. CATSPER2, a human autosomal nonsyndromic male infertility gene. (PMID: 12825070) Avidan N … Beckmann JS (European journal of human genetics : EJHG 2003) 3 58
  5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg RL … Mammalian Gene Collection Program Team (Proceedings of the National Academy of Sciences of the United States of America 2002) 3 58

Products for CATSPER2P1 Gene

Sources for CATSPER2P1 Gene

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