This locus represents naturally occurring readthrough transcription between the neighboring LOC400927 (transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 pseudogene) and CSNK1E (casein kinase I isoform epsilon) genes on chromosome 22. The readthrough transcript encodes the same protein as the downstream gene product (casein kinase I isoform epsilon). [provided by... See more...

Aliases for TPTEP2-CSNK1E Gene

Aliases for TPTEP2-CSNK1E Gene

  • TPTEP2-CSNK1E Readthrough 2 3 5
  • Casein Kinase I Isoform Epsilon 3
  • LOC400927-CSNK1E Readthrough 3
  • HCG2014051, Isoform CRA_a 13
  • Casein Kinase 1, Epsilon 13
  • Casein Kinase 1 Epsilon 13
  • LOC400927-CSNK1E 3
  • TPTEP2-CSNK1E 5
  • CKI-Epsilon 3

External Ids for TPTEP2-CSNK1E Gene

Previous GeneCards Identifiers for TPTEP2-CSNK1E Gene

  • GC22M043827
  • GC22M044205
  • GC22M044541
  • GC22M045383
  • GC22M042361
  • GC22M043454

Summaries for TPTEP2-CSNK1E Gene

Entrez Gene Summary for TPTEP2-CSNK1E Gene

  • This locus represents naturally occurring readthrough transcription between the neighboring LOC400927 (transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 pseudogene) and CSNK1E (casein kinase I isoform epsilon) genes on chromosome 22. The readthrough transcript encodes the same protein as the downstream gene product (casein kinase I isoform epsilon). [provided by RefSeq, Feb 2014]

GeneCards Summary for TPTEP2-CSNK1E Gene

TPTEP2-CSNK1E (TPTEP2-CSNK1E Readthrough) is a Protein Coding gene. Diseases associated with TPTEP2-CSNK1E include Epileptic Encephalopathy, Early Infantile, 1. Among its related pathways are Organelle biogenesis and maintenance and rRNA processing in the nucleus and cytosol. An important paralog of this gene is CSNK1E.

Additional gene information for TPTEP2-CSNK1E Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TPTEP2-CSNK1E Gene

Genomics for TPTEP2-CSNK1E Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for TPTEP2-CSNK1E 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 TPTEP2-CSNK1E on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TPTEP2-CSNK1E

Genomic Locations for TPTEP2-CSNK1E Gene

Genomic Locations for TPTEP2-CSNK1E Gene
chr22:38,290,691-38,398,915
(GRCh38/hg38)
Size:
108,225 bases
Orientation:
Minus strand

Genomic View for TPTEP2-CSNK1E Gene

Genes around TPTEP2-CSNK1E on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TPTEP2-CSNK1E Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TPTEP2-CSNK1E Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TPTEP2-CSNK1E Gene

Proteins for TPTEP2-CSNK1E Gene

  • Protein details for TPTEP2-CSNK1E Gene (UniProtKB/TrEMBL)

    Protein Symbol:
    Q5U045-Q5U045_HUMAN
    Recommended name:
    Casein kinase 1 epsilon
    Protein Accession:
    Q5U045

    Protein attributes for TPTEP2-CSNK1E Gene

    Size:
    416 amino acids
    Molecular mass:
    47315 Da
    Quaternary structure:
    No Data Available

neXtProt entry for TPTEP2-CSNK1E Gene

Post-translational modifications for TPTEP2-CSNK1E Gene

No Post-translational modifications

Other Protein References for TPTEP2-CSNK1E Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for TPTEP2-CSNK1E Gene

Domains & Families for TPTEP2-CSNK1E Gene

Gene Families for TPTEP2-CSNK1E Gene

Unknown:
  • Belongs to the protein kinase superfamily.

Protein Domains for TPTEP2-CSNK1E Gene

genes like me logo Genes that share domains with TPTEP2-CSNK1E: view

No data available for Suggested Antigen Peptide Sequences , Graphical View of Domain Structure and UniProtKB/Swiss-Prot for TPTEP2-CSNK1E Gene

Function for TPTEP2-CSNK1E Gene

Phenotypes From GWAS Catalog for TPTEP2-CSNK1E Gene

Gene Ontology (GO) - Molecular Function for TPTEP2-CSNK1E Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0004672 protein kinase activity IEA --
GO:0004674 protein serine/threonine kinase activity IEA --
GO:0005524 ATP binding IEA --
GO:0016301 kinase activity IEA --
genes like me logo Genes that share ontologies with TPTEP2-CSNK1E: view

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for TPTEP2-CSNK1E Gene

Localization for TPTEP2-CSNK1E 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 TPTEP2-CSNK1E Gene

Pathways & Interactions for TPTEP2-CSNK1E Gene

genes like me logo Genes that share pathways with TPTEP2-CSNK1E: view

Interacting Proteins for TPTEP2-CSNK1E Gene

Selected Interacting proteins: Q5U045-Q5U045_HUMAN for TPTEP2-CSNK1E Gene via MINT

Symbol External ID(s) Details
PRKD2
GPS-Prot Interaction Network for TPTEP2-CSNK1E

Gene Ontology (GO) - Biological Process for TPTEP2-CSNK1E Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006468 protein phosphorylation IEA --
GO:0016310 phosphorylation IEA --
genes like me logo Genes that share ontologies with TPTEP2-CSNK1E: view

No data available for SIGNOR curated interactions for TPTEP2-CSNK1E Gene

Drugs & Compounds for TPTEP2-CSNK1E Gene

No Compound Related Data Available

Transcripts for TPTEP2-CSNK1E Gene

mRNA/cDNA for TPTEP2-CSNK1E Gene

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

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TPTEP2-CSNK1E

Alternative Splicing Database (ASD) splice patterns (SP) for TPTEP2-CSNK1E Gene

No ASD Table

Relevant External Links for TPTEP2-CSNK1E Gene

GeneLoc Exon Structure for
TPTEP2-CSNK1E

Expression for TPTEP2-CSNK1E Gene

No Expression Related Data Available

No data available for mRNA expression in normal human tissues , 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 TPTEP2-CSNK1E Gene

Orthologs for TPTEP2-CSNK1E Gene

Evolution for TPTEP2-CSNK1E Gene

ENSEMBL:
Gene Tree for TPTEP2-CSNK1E (if available)
TreeFam:
Gene Tree for TPTEP2-CSNK1E (if available)

No data available for Orthologs for TPTEP2-CSNK1E Gene

Paralogs for TPTEP2-CSNK1E Gene

Paralogs for TPTEP2-CSNK1E Gene

genes like me logo Genes that share paralogs with TPTEP2-CSNK1E: view

Variants for TPTEP2-CSNK1E Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TPTEP2-CSNK1E Gene

SNP ID Clinical significance and condition Chr 22 pos Variation AA Info Type
724802 Benign: not provided 38,294,256(-) G/T INTRON_VARIANT
724803 Benign: not provided 38,302,851(-) G/A INTRON_VARIANT
789683 Benign: not provided 38,300,896(-) G/A SYNONYMOUS_VARIANT
rs1569077009 Pathogenic: Epileptic encephalopathy, early infantile, 1 38,298,785(-) C/T SPLICE_DONOR_VARIANT

Additional dbSNP identifiers (rs#s) for TPTEP2-CSNK1E Gene

Additional Variant Information for TPTEP2-CSNK1E Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TPTEP2-CSNK1E

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Structural Variations from Database of Genomic Variants (DGV) and Variation tolerance for TPTEP2-CSNK1E Gene

Disorders for TPTEP2-CSNK1E Gene

MalaCards: The human disease database

(1) MalaCards diseases for TPTEP2-CSNK1E Gene - From: GeneCards

Disorder Aliases PubMed IDs
epileptic encephalopathy, early infantile, 1
  • eiee1
- elite association - COSMIC cancer census association via MalaCards
genes like me logo Genes that share disorders with TPTEP2-CSNK1E: view

No data available for UniProtKB/Swiss-Prot and Genatlas for TPTEP2-CSNK1E Gene

Publications for TPTEP2-CSNK1E Gene

  1. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
  2. Widespread macromolecular interaction perturbations in human genetic disorders. (PMID: 25910212) Sahni N … Vidal M (Cell 2015) 3
  3. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein MY … Mann M (Cell 2015) 3
  4. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T … Vidal M (Cell 2014) 3
  5. Using an in situ proximity ligation assay to systematically profile endogenous protein-protein interactions in a pathway network. (PMID: 25241761) Chen TC … Huang CY (Journal of proteome research 2014) 3

Products for TPTEP2-CSNK1E Gene

Sources for TPTEP2-CSNK1E Gene