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Aliases for CDKL2 Gene

Aliases for CDKL2 Gene

  • Cyclin Dependent Kinase Like 2 2 3 5
  • Protein Kinase P56 KKIAMRE 3 4
  • Cyclin-Dependent Kinase-Like 2 (CDC2-Related Kinase) 2
  • Serine/Threonine Protein Kinase KKIAMRE 3
  • Serine/Threonine-Protein Kinase KKIAMRE 4
  • Testicular Tissue Protein Li 35 3
  • Cyclin-Dependent Kinase-Like 2 3
  • P56 KKIAMRE Protein Kinase 3
  • CDC2-Related Kinase 3
  • EC 2.7.11.22 4
  • KKIAMRE 3
  • P56 3

External Ids for CDKL2 Gene

Previous GeneCards Identifiers for CDKL2 Gene

  • GC04M076400
  • GC04M076694
  • GC04M076896
  • GC04M076962
  • GC04M076861
  • GC04M076501
  • GC04M072248

Summaries for CDKL2 Gene

Entrez Gene Summary for CDKL2 Gene

  • This gene product is a member of a large family of CDC2-related serine/threonine protein kinases. It accumulates primarily in the cytoplasm, with lower levels in the nucleus. [provided by RefSeq, Jul 2008]

GeneCards Summary for CDKL2 Gene

CDKL2 (Cyclin Dependent Kinase Like 2) is a Protein Coding gene. Diseases associated with CDKL2 include Orofaciodigital Syndrome Vi and Joubert Syndrome 1. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring phosphorus-containing groups and protein tyrosine kinase activity. An important paralog of this gene is CDKL3.

Gene Wiki entry for CDKL2 Gene

Additional gene information for CDKL2 Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CDKL2 Gene

Genomics for CDKL2 Gene

GeneHancer (GH) Regulatory Elements for CDKL2 Gene

Promoters and enhancers for CDKL2 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
GH04J075629 Promoter/Enhancer 1.4 Ensembl ENCODE 650.7 +0.2 174 1.7 PKNOX1 SIN3A ZNF2 GLIS2 KLF7 FOS KLF13 SP3 ZNF610 GLIS1 CDKL2 ODAPH G3BP2 GC04M075630
GH04J075671 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 11.7 -42.7 -42684 4.4 HDGF PKNOX1 FOXA2 SMAD1 ARNT ARID4B SIN3A DMAP1 YY1 POLR2B G3BP2 USO1 CDKL2 NUP54 NAAA ENSG00000201644 GC04M075663
GH04J075722 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 10.1 -94.0 -94027 5.1 HDGF FOXA2 SMAD1 ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B ZNF213 USO1 G3BP2 CDKL2 ODAPH GC04P075797
GH04J075701 Enhancer 1 ENCODE dbSUPER 11 -73.7 -73700 5.1 FOXA2 ARID4B DMAP1 RAD21 ZNF614 ZNF143 RCOR1 CREM MIXL1 RXRA G3BP2 USO1 CDKL2 ODAPH CCDC158 GC04M075663 ENSG00000201644
GH04J075573 Enhancer 1 Ensembl ENCODE 10.9 +57.0 57015 0.6 RB1 ARNT ARID4B BMI1 ZNF2 IRF4 RAD21 RFX5 ZNF335 ZNF213 CDKL2 ODAPH
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around CDKL2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CDKL2 gene promoter:

Genomic Locations for CDKL2 Gene

Genomic Locations for CDKL2 Gene
chr4:75,576,494-75,630,716
(GRCh38/hg38)
Size:
54,223 bases
Orientation:
Minus strand
chr4:76,501,704-76,555,900
(GRCh37/hg19)

Genomic View for CDKL2 Gene

Genes around CDKL2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CDKL2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CDKL2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CDKL2 Gene

Proteins for CDKL2 Gene

  • Protein details for CDKL2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q92772-CDKL2_HUMAN
    Recommended name:
    Cyclin-dependent kinase-like 2
    Protein Accession:
    Q92772
    Secondary Accessions:
    • B2R695

    Protein attributes for CDKL2 Gene

    Size:
    493 amino acids
    Molecular mass:
    56019 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for CDKL2 Gene

neXtProt entry for CDKL2 Gene

Post-translational modifications for CDKL2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CDKL2 Gene

No data available for DME Specific Peptides for CDKL2 Gene

Domains & Families for CDKL2 Gene

Gene Families for CDKL2 Gene

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

Protein Domains for CDKL2 Gene

Suggested Antigen Peptide Sequences for CDKL2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q92772

UniProtKB/Swiss-Prot:

CDKL2_HUMAN :
  • The [NKR]KIAxRE motif seems to be a cyclin-binding region.
  • Belongs to the protein kinase superfamily. CMGC Ser/Thr protein kinase family. CDC2/CDKX subfamily.
Domain:
  • The [NKR]KIAxRE motif seems to be a cyclin-binding region.
Family:
  • Belongs to the protein kinase superfamily. CMGC Ser/Thr protein kinase family. CDC2/CDKX subfamily.
genes like me logo Genes that share domains with CDKL2: view

Function for CDKL2 Gene

Molecular function for CDKL2 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
ATP + a protein = ADP + a phosphoprotein.

Enzyme Numbers (IUBMB) for CDKL2 Gene

Phenotypes From GWAS Catalog for CDKL2 Gene

Gene Ontology (GO) - Molecular Function for CDKL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004672 protein kinase activity TAS,IEA 9000130
GO:0004674 protein serine/threonine kinase activity IEA --
GO:0004693 cyclin-dependent protein serine/threonine kinase activity IBA --
GO:0005524 ATP binding IEA --
GO:0016301 kinase activity IEA --
genes like me logo Genes that share ontologies with CDKL2: view
genes like me logo Genes that share phenotypes with CDKL2: view

Animal Models for CDKL2 Gene

MGI Knock Outs for CDKL2:
  • Cdkl2 Cdkl2<tm1Ito>
  • Cdkl2 Cdkl2<tm1b(EUCOMM)Hmgu>

Animal Model Products

  • Taconic Biosciences Mouse Models for CDKL2

CRISPR Products

miRNA for CDKL2 Gene

miRTarBase miRNAs that target CDKL2

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CDKL2

Clone Products

  • Addgene plasmids for CDKL2

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for CDKL2 Gene

Localization for CDKL2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CDKL2 Gene

Cytoplasm. Nucleus.

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 CDKL2 gene
Compartment Confidence
cytoskeleton 5
nucleus 5
cytosol 2
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleus (3)
  • Centrosome (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CDKL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA --
GO:0005737 cytoplasm IEA --
GO:0005813 centrosome IDA --
genes like me logo Genes that share ontologies with CDKL2: view

Pathways & Interactions for CDKL2 Gene

SuperPathways for CDKL2 Gene

No Data Available

Pathways by source for CDKL2 Gene

1 GeneTex pathway for CDKL2 Gene

Gene Ontology (GO) - Biological Process for CDKL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006468 protein phosphorylation IEA --
GO:0007165 signal transduction TAS 9000130
GO:0007548 sex differentiation TAS 9000130
GO:0016310 phosphorylation IEA --
GO:0051726 regulation of cell cycle IEA --
genes like me logo Genes that share ontologies with CDKL2: view

No data available for SIGNOR curated interactions for CDKL2 Gene

Drugs & Compounds for CDKL2 Gene

(2) Drugs for CDKL2 Gene - From: DrugBank and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
fostamatinib Approved, Investigational Pharma Target, inhibitor Kinase Inhibitors 0
ATP Investigational Nutra Agonist, Activator, Full agonist, Antagonist, Potentiation, Pore Blocker 0

(1) Additional Compounds for CDKL2 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
Full agonist, Agonist, Partial agonist, Antagonist, Gating inhibitor 58-64-0
genes like me logo Genes that share compounds with CDKL2: view

Transcripts for CDKL2 Gene

Unigene Clusters for CDKL2 Gene

Cyclin-dependent kinase-like 2 (CDC2-related kinase):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CDKL2

Clone Products

  • Addgene plasmids for CDKL2

Alternative Splicing Database (ASD) splice patterns (SP) for CDKL2 Gene

No ASD Table

Relevant External Links for CDKL2 Gene

GeneLoc Exon Structure for
CDKL2
ECgene alternative splicing isoforms for
CDKL2

Expression for CDKL2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CDKL2 Gene

mRNA differential expression in normal tissues according to GTEx for CDKL2 Gene

This gene is overexpressed in Testis (x4.5) and Brain - Frontal Cortex (BA9) (x4.1).

NURSA nuclear receptor signaling pathways regulating expression of CDKL2 Gene:

CDKL2

SOURCE GeneReport for Unigene cluster for CDKL2 Gene:

Hs.591698

mRNA Expression by UniProt/SwissProt for CDKL2 Gene:

Q92772-CDKL2_HUMAN
Tissue specificity: Expressed in testis and kidney, and at lower level in brain and lung.

Evidence on tissue expression from TISSUES for CDKL2 Gene

  • Nervous system(4.5)
genes like me logo Genes that share expression patterns with CDKL2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for CDKL2 Gene

Orthologs for CDKL2 Gene

This gene was present in the common ancestor of animals.

Orthologs for CDKL2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CDKL2 34 33
  • 92.57 (n)
OneToOne
dog
(Canis familiaris)
Mammalia CDKL2 34 33
  • 92.32 (n)
OneToOne
cow
(Bos Taurus)
Mammalia CDKL2 34 33
  • 89.8 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Cdkl2 16 34 33
  • 87.16 (n)
rat
(Rattus norvegicus)
Mammalia Cdkl2 33
  • 85.06 (n)
oppossum
(Monodelphis domestica)
Mammalia CDKL2 34
  • 56 (a)
OneToOne
chicken
(Gallus gallus)
Aves CDKL2 34 33
  • 69.73 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CDKL2 34
  • 62 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cdkl2 33
  • 66.05 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG7236 34
  • 34 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea Y42A5A.4 34 35
  • 34 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 69 (a)
OneToMany
Cin.9638 33
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.9638 33
Species where no ortholog for CDKL2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • 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)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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)
  • zebrafish (Danio rerio)

Evolution for CDKL2 Gene

ENSEMBL:
Gene Tree for CDKL2 (if available)
TreeFam:
Gene Tree for CDKL2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CDKL2: view image

Paralogs for CDKL2 Gene

Paralogs for CDKL2 Gene

Pseudogenes.org Pseudogenes for CDKL2 Gene

genes like me logo Genes that share paralogs with CDKL2: view

Variants for CDKL2 Gene

Sequence variations from dbSNP and Humsavar for CDKL2 Gene

SNP ID Clin Chr 04 pos Variation AA Info Type
rs755711267 An ovarian mucinous carcinoma sample 75,607,279(-) C/T coding_sequence_variant, missense_variant, non_coding_transcript_variant
VAR_041987 An ovarian papillary serous adenocarcinoma sample p.Leu98Ile
rs1000139440 -- 75,610,029(-) C/G intron_variant
rs1000198732 -- 75,603,573(-) A/G intron_variant
rs1000241296 -- 75,612,015(-) G/C intron_variant

Structural Variations from Database of Genomic Variants (DGV) for CDKL2 Gene

Variant ID Type Subtype PubMed ID
esv3564097 CNV deletion 23714750
esv3601032 CNV loss 21293372
nsv1139273 CNV deletion 24896259
nsv594687 CNV loss 21841781
nsv7363 OTHER inversion 18451855
nsv966285 CNV duplication 23825009

Variation tolerance for CDKL2 Gene

Residual Variation Intolerance Score: 59.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.75; 46.90% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CDKL2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CDKL2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CDKL2 Gene

Disorders for CDKL2 Gene

MalaCards: The human disease database

(2) MalaCards diseases for CDKL2 Gene - From: DISEASES

Disorder Aliases PubMed IDs
orofaciodigital syndrome vi
  • ofd6
joubert syndrome 1
  • jbts1
- elite association - COSMIC cancer census association via MalaCards
Search CDKL2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for CDKL2

genes like me logo Genes that share disorders with CDKL2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CDKL2 Gene

Publications for CDKL2 Gene

  1. Molecular cloning of the epidermal growth factor-stimulated protein kinase p56 KKIAMRE. (PMID: 9000130) Taglienti CA … Davis RJ (Oncogene 1996) 2 3 4 58
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  3. CDKL Family Kinases Have Evolved Distinct Structural Features and Ciliary Function. (PMID: 29420175) Canning P … Leroux MR (Cell reports 2018) 4 58
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin EL … Gygi SP (Cell 2015) 3 58

Products for CDKL2 Gene

  • Addgene plasmids for CDKL2

Sources for CDKL2 Gene

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