Aliases for CTDSPL Gene

Aliases for CTDSPL Gene

  • CTD Small Phosphatase Like 2 3 5
  • Small CTD Phosphatase 3 2 3 4
  • HYA22 2 3 4
  • RBSP3 2 3 4
  • SCP3 2 3 4
  • CTD (Carboxy-Terminal Domain, RNA Polymerase II, Polypeptide A) Small Phosphatase-Like 2 3
  • Carboxy-Terminal Domain RNA Polymerase II Polypeptide A Small Phosphatase 3 3 4
  • RB Protein Serine Phosphatase From Chromosome 3 2 3
  • Nuclear LIM Interactor-Interacting Factor 1 3 4
  • Small C-Terminal Domain Phosphatase 3 3 4
  • CTD Small Phosphatase-Like Protein 3 4
  • NLI-Interacting Factor 1 3 4
  • NIF-Like Protein 3 4
  • EC 3.1.3.16 4 51
  • CTDSP-Like 3 4
  • C3orf8 3 4
  • PSR1 2 3
  • Chromosome 3 Open Reading Frame 8 2
  • HYA22 Protein 2
  • Protein YA22 4
  • EC 3.1.3 51
  • CTDSPL 5
  • NIF1 4
  • NIFL 4
  • YA22 4

External Ids for CTDSPL Gene

Previous HGNC Symbols for CTDSPL Gene

  • C3orf8

Previous GeneCards Identifiers for CTDSPL Gene

  • GC03P037863
  • GC03P037878

Summaries for CTDSPL Gene

GeneCards Summary for CTDSPL Gene

CTDSPL (CTD Small Phosphatase Like) is a Protein Coding gene. Diseases associated with CTDSPL include Brugada Syndrome 1 and Brugada Syndrome. Among its related pathways are Signaling by BMP and Regulation of cytoplasmic and nuclear SMAD2/3 signaling. Gene Ontology (GO) annotations related to this gene include phosphatase activity and phosphoprotein phosphatase activity. An important paralog of this gene is CTDSP1.

UniProtKB/Swiss-Prot Summary for CTDSPL Gene

  • Recruited by REST to neuronal genes that contain RE-1 elements, leading to neuronal gene silencing in non-neuronal cells (By similarity). Preferentially catalyzes the dephosphorylation of 'Ser-5' within the tandem 7 residue repeats in the C-terminal domain (CTD) of the largest RNA polymerase II subunit POLR2A. Negatively regulates RNA polymerase II transcription, possibly by controlling the transition from initiation/capping to processive transcript elongation.

Gene Wiki entry for CTDSPL Gene

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

Genomics for CTDSPL Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CTDSPL 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 CTDSPL on the GeneHancer Hub at the UCSC Golden Path

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

Top Transcription factor binding sites by QIAGEN in the CTDSPL gene promoter:
  • c-Myb
  • FOXO4
  • HTF
  • Meis-1
  • Meis-1a
  • Meis-1b
  • Pax-2
  • Pax-2a
  • Pax-2b
  • RP58

Genomic Locations for CTDSPL Gene

Latest Assembly
chr3:37,861,880-37,984,469
(GRCh38/hg38)
Size:
122,590 bases
Orientation:
Plus strand

Previous Assembly
chr3:37,903,371-38,025,960
(GRCh37/hg19 by Entrez Gene)
Size:
122,590 bases
Orientation:
Plus strand

chr3:37,903,451-38,025,960
(GRCh37/hg19 by Ensembl)
Size:
122,510 bases
Orientation:
Plus strand

Genomic View for CTDSPL Gene

Genes around CTDSPL on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for CTDSPL Gene

Proteins for CTDSPL Gene

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

    Protein Symbol:
    O15194-CTDSL_HUMAN
    Recommended name:
    CTD small phosphatase-like protein
    Protein Accession:
    O15194
    Secondary Accessions:
    • Q3ZTU0
    • Q70KI4
    • Q7Z5Q2

    Protein attributes for CTDSPL Gene

    Size:
    276 amino acids
    Molecular mass:
    31129 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    • Interacts with REST (By similarity). Monomer.
    SequenceCaution:
    • Sequence=BAA21667.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for CTDSPL Gene

    Alternative splice isoforms for CTDSPL Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CTDSPL Gene

Selected DME Specific Peptides for CTDSPL Gene

O15194:
  • DFIVPVEI
  • HQVYVLKRP
  • DNSPASY
  • RSILSSFF
  • GNYVKDL
  • DLDETLVHSSFK
  • GTIHQVYV
  • FTASLAKYADPV
  • NADFIVP

Post-translational modifications for CTDSPL Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for CTDSPL Gene

Gene Families for CTDSPL Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for CTDSPL Gene

InterPro:
Blocks:
  • NLI interacting factor
ProtoNet:

Suggested Antigen Peptide Sequences for CTDSPL Gene

GenScript: Design optimal peptide antigens:
  • Small C-terminal domain phosphatase 3 (CTDSL_HUMAN)
genes like me logo Genes that share domains with CTDSPL: view

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

Function for CTDSPL Gene

Molecular function for CTDSPL Gene

UniProtKB/Swiss-Prot Function:
Recruited by REST to neuronal genes that contain RE-1 elements, leading to neuronal gene silencing in non-neuronal cells (By similarity). Preferentially catalyzes the dephosphorylation of 'Ser-5' within the tandem 7 residue repeats in the C-terminal domain (CTD) of the largest RNA polymerase II subunit POLR2A. Negatively regulates RNA polymerase II transcription, possibly by controlling the transition from initiation/capping to processive transcript elongation.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=H2O + O-phospho-L-seryl-[protein] = L-seryl-[protein] + phosphate; Xref=Rhea:RHEA:20629, Rhea:RHEA-COMP:9863, Rhea:RHEA-COMP:11604, ChEBI:CHEBI:15377, ChEBI:CHEBI:29999, ChEBI:CHEBI:43474, ChEBI:CHEBI:83421; EC=3.1.3.16;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=H2O + O-phospho-L-threonyl-[protein] = L-threonyl-[protein] + phosphate; Xref=Rhea:RHEA:47004, Rhea:RHEA-COMP:11060, Rhea:RHEA-COMP:11605, ChEBI:CHEBI:15377, ChEBI:CHEBI:30013, ChEBI:CHEBI:43474, ChEBI:CHEBI:61977; EC=3.1.3.16;.

Enzyme Numbers (IUBMB) for CTDSPL Gene

Phenotypes From GWAS Catalog for CTDSPL Gene

Gene Ontology (GO) - Molecular Function for CTDSPL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0004721 phosphoprotein phosphatase activity IBA 21873635
GO:0004722 protein serine/threonine phosphatase activity IEA --
GO:0005515 protein binding IPI 16882717
GO:0008420 RNA polymerase II CTD heptapeptide repeat phosphatase activity IEA,IBA 21873635
genes like me logo Genes that share ontologies with CTDSPL: view
genes like me logo Genes that share phenotypes with CTDSPL: view

Animal Models for CTDSPL Gene

MGI Knock Outs for CTDSPL:
  • Ctdspl Ctdspl<tm1.1(KOMP)Mbp>

Inhibitory RNAs for research

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

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for CTDSPL Gene

Localization for CTDSPL Gene

Subcellular locations from UniProtKB/Swiss-Prot for CTDSPL Gene

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 CTDSPL gene
Compartment Confidence
extracellular 4
nucleus 4
cytosol 3
plasma membrane 2
golgi apparatus 2
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
endosome 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CTDSPL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0070062 extracellular exosome HDA 19056867
genes like me logo Genes that share ontologies with CTDSPL: view

Pathways & Interactions for CTDSPL Gene

genes like me logo Genes that share pathways with CTDSPL: view

Pathways by source for CTDSPL Gene

SIGNOR curated interactions for CTDSPL Gene

Activates:
Inactivates:

Gene Ontology (GO) - Biological Process for CTDSPL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001933 negative regulation of protein phosphorylation IEA --
GO:0006470 protein dephosphorylation IEA --
GO:0008150 biological_process ND --
GO:0016311 dephosphorylation IEA --
GO:2000134 negative regulation of G1/S transition of mitotic cell cycle IEA --
genes like me logo Genes that share ontologies with CTDSPL: view

Drugs & Compounds for CTDSPL Gene

(3) Drugs for CTDSPL Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Water Approved Pharma 0
Phosphate Experimental Pharma 0
genes like me logo Genes that share compounds with CTDSPL: view

Transcripts for CTDSPL Gene

mRNA/cDNA for CTDSPL Gene

2 REFSEQ mRNAs :
7 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 CTDSPL

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

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b · 6c ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11a · 11b · 11c ^ 12 ^ 13 ^ 14
SP1: - - -
SP2: - - - -
SP3: - - - -
SP4: - -
SP5:
SP6: - -

Relevant External Links for CTDSPL Gene

GeneLoc Exon Structure for
CTDSPL

Expression for CTDSPL Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for CTDSPL Gene

This gene is overexpressed in Peripheral blood mononuclear cells (40.9) and Platelet (24.9).

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



Protein tissue co-expression partners for CTDSPL Gene

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

SOURCE GeneReport for Unigene cluster for CTDSPL Gene:

Hs.475963

mRNA Expression by UniProt/SwissProt for CTDSPL Gene:

O15194-CTDSL_HUMAN
Tissue specificity: Expression is restricted to non-neuronal tissues.

Evidence on tissue expression from TISSUES for CTDSPL Gene

  • Nervous system(4.6)
  • Lung(4.6)
  • Pancreas(4.2)
  • Intestine(2.9)
  • Skin(2.6)
  • Kidney(2.2)
  • Muscle(2.1)
genes like me logo Genes that share expression patterns with CTDSPL: view

Primer products for research

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for CTDSPL Gene

Orthologs for CTDSPL Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for CTDSPL Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia CTDSPL 30 31
  • 100 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia CTDSPL 30 31
  • 93.96 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia CTDSPL 30
  • 93.92 (n)
Mouse
(Mus musculus)
Mammalia Ctdspl 30 17 31
  • 90.94 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia CTDSPL 31
  • 87 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia CTDSPL 31
  • 83 (a)
OneToOne
Chicken
(Gallus gallus)
Aves CTDSPL 30
  • 81.7 (n)
NFI1 31
  • 78 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia CTDSPL 31
  • 89 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia ctdspl 30
  • 75.03 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.18931 30
Zebrafish
(Danio rerio)
Actinopterygii ctdspla 31
  • 80 (a)
OneToMany
ctdsplb 30 31
  • 74.49 (n)
OneToMany
Fruit Fly
(Drosophila melanogaster)
Insecta CG5830 31
  • 47 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea scpl-1 31
  • 30 (a)
OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PSR2 31
  • 29 (a)
ManyToMany
PSR1 31
  • 27 (a)
ManyToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 76 (a)
OneToMany
Species where no ortholog for CTDSPL was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • 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)
  • 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)
  • Rat (Rattus norvegicus)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • 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)
  • Wheat (Triticum aestivum)

Evolution for CTDSPL Gene

ENSEMBL:
Gene Tree for CTDSPL (if available)
TreeFam:
Gene Tree for CTDSPL (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CTDSPL: view image

Paralogs for CTDSPL Gene

Paralogs for CTDSPL Gene

(3) SIMAP similar genes for CTDSPL Gene using alignment to 5 proteins:

  • CTDSL_HUMAN
  • F8WED2_HUMAN
  • H7C2B9_HUMAN
  • H7C2S4_HUMAN
  • H7C353_HUMAN
genes like me logo Genes that share paralogs with CTDSPL: view

Variants for CTDSPL Gene

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

SNP ID Clinical significance and condition Chr 03 pos Variation AA Info Type
rs1341429725 - p.Asn127Ser
VAR_019683 - p.Ser121Pro
VAR_019685 - p.Val132Gly

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

Variant ID Type Subtype PubMed ID
dgv1368e212 CNV loss 25503493
dgv1369e212 CNV loss 25503493
dgv2510n106 CNV deletion 24896259
dgv4721n100 CNV loss 25217958
dgv600n27 CNV loss 19166990
dgv802n67 CNV loss 20364138
dgv8282n54 CNV loss 21841781
dgv8283n54 CNV loss 21841781
dgv8284n54 CNV loss 21841781
dgv8285n54 CNV loss 21841781
dgv8286n54 CNV loss 21841781
esv2422037 CNV deletion 20811451
esv25990 CNV loss 19812545
esv2676043 CNV deletion 23128226
esv2725159 CNV deletion 23290073
esv2759140 CNV loss 17122850
esv2760795 CNV loss 21179565
esv2763754 CNV loss 21179565
esv32619 CNV loss 17666407
esv3561753 CNV deletion 23714750
esv3561754 CNV deletion 23714750
esv3584784 CNV loss 24956385
esv3595887 CNV gain 21293372
esv3595895 CNV gain 21293372
esv3595902 CNV loss 21293372
esv3595903 CNV loss 21293372
esv3595904 CNV loss 21293372
esv3893682 CNV loss 25118596
esv3893683 CNV loss 25118596
nsv10262 CNV gain 18304495
nsv10263 CNV loss 18304495
nsv1072682 CNV deletion 25765185
nsv1160928 CNV duplication 26073780
nsv1160929 OTHER complex 26073780
nsv1160930 CNV deletion 26073780
nsv3767 CNV deletion 18451855
nsv428416 CNV loss 18775914
nsv437329 CNV loss 16327808
nsv437702 CNV loss 16327808
nsv442857 CNV loss 18776908
nsv514147 CNV loss 21397061
nsv517156 CNV loss 19592680
nsv518995 CNV loss 19592680
nsv522017 CNV loss 19592680
nsv522422 CNV loss 19592680
nsv590076 CNV loss 21841781
nsv590077 CNV loss 21841781
nsv590078 CNV loss 21841781
nsv590094 CNV loss 21841781
nsv590100 CNV loss 21841781
nsv834666 CNV gain+loss 17160897
nsv954464 CNV deletion 24416366
nsv980087 CNV deletion 23825009

Variation tolerance for CTDSPL Gene

Residual Variation Intolerance Score: 58.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.90; 35.38% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CTDSPL Gene

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

SNP Genotyping and Copy Number Assays for research

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

Disorders for CTDSPL Gene

MalaCards: The human disease database

(5) MalaCards diseases for CTDSPL Gene - From: CVR and COP

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for CTDSPL

Genetic Association Database
(GAD)
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 CTDSPL: view

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

Publications for CTDSPL Gene

  1. An integrated physical and gene map of the 3.5-Mb chromosome 3p21.3 (AP20) region implicated in major human epithelial malignancies. (PMID: 12543795) Protopopov A … Zabarovsky ER (Cancer research 2003) 2 3 23
  2. Sequence analysis of a 685-kb genomic region on chromosome 3p22-p21.3 that is homozygously deleted in a lung carcinoma cell line. (PMID: 9179494) Ishikawa S … Nakamura Y (DNA research : an international journal for rapid publication of reports on genes and genomes 1997) 2 3 4
  3. 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 41
  4. High mutability of the tumor suppressor genes RASSF1 and RBSP3 (CTDSPL) in cancer. (PMID: 19478941) Kashuba VI … Zabarovsky ER (PloS one 2009) 3 23
  5. Single nucleotide polymorphisms of microRNA machinery genes modify the risk of renal cell carcinoma. (PMID: 19047128) Horikawa Y … Wu X (Clinical cancer research : an official journal of the American Association for Cancer Research 2008) 3 41

Products for CTDSPL Gene

Sources for CTDSPL Gene