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
  • GC22M046239
  • GC22M047281

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 Developmental And Epileptic Encephalopathy 1 and West Syndrome. Among its related pathways are Pathways of neurodegeneration - multiple diseases and Cell Cycle, Mitotic. 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

Latest Assembly
chr22:38,290,691-38,398,915
(GRCh38/hg38)
Size:
108,225 bases
Orientation:
Minus strand

Previous Assembly
chr22:38,686,697-38,794,920
(GRCh37/hg19 by Entrez Gene)
Size:
108,224 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 RNAs for research

  • 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)
Alliance of Genome Resources:
Additional Orthologs for TPTEP2-CSNK1E

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
929456 Uncertain Significance: not provided 38,302,910(-) C/A
NM_152221.3(CSNK1E):c.287G>T (p.Cys96Phe)
MISSENSE
rs1569077009 Pathogenic: Epileptic encephalopathy, early infantile, 1 38,298,785(-) C/T
NM_152221.3(CSNK1E):c.885+1G>A
SPLICE_DONOR
rs1803340 Benign: not provided 38,300,896(-) G/A
NM_152221.3(CSNK1E):c.393C>T (p.Pro131=)
SYNONYMOUS
rs186918102 Benign: not provided 38,302,851(-) G/A
NM_152221.3(CSNK1E):c.336+10C>T
INTRON
rs368463837 Benign: not provided 38,294,256(-) G/T
NM_152221.3(CSNK1E):c.1079-8C>A
INTRON

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for TPTEP2-CSNK1E Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Additional Variant Information for TPTEP2-CSNK1E Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TPTEP2-CSNK1E
Leiden Open Variation Database (LOVD)
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

(2) MalaCards diseases for TPTEP2-CSNK1E Gene - From: CVR

Disorder Aliases PubMed IDs
developmental and epileptic encephalopathy 1
  • dee1
west syndrome
  • epileptic encephalopathy, early infantile, 1
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for TPTEP2-CSNK1E

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. Extensive rewiring of the EGFR network in colorectal cancer cells expressing transforming levels of KRASG13D. (PMID: 31980649) Kennedy SA … Kolch W (Nature communications 2020) 3
  3. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein MY … Mann M (Cell 2015) 3
  4. Widespread macromolecular interaction perturbations in human genetic disorders. (PMID: 25910212) Sahni N … Vidal M (Cell 2015) 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