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Aliases for TLK2 Gene

Aliases for TLK2 Gene

  • Tousled Like Kinase 2 2 3 5
  • Serine/Threonine-Protein Kinase Tousled-Like 2 3 4
  • Tousled-Like Kinase 2 2 4
  • EC 2.7.11.1 4 56
  • HsHPK 3 4
  • PKU-ALPHA 3
  • PKU-Alpha 4
  • EC 2.7.11 56
  • MRD57 3

External Ids for TLK2 Gene

Previous GeneCards Identifiers for TLK2 Gene

  • GC17P060240
  • GC17M034403
  • GC17P060897
  • GC17P061029
  • GC17P061009
  • GC17P057889
  • GC17P060556
  • GC17P055922
  • GC17P060536

Summaries for TLK2 Gene

Entrez Gene Summary for TLK2 Gene

  • This gene encodes a nuclear serine/threonine kinase that was first identified in Arabidopsis. The encoded protein is thought to function in the regulation of chromatin assembly in the S phase of the cell cycle by regulating the levels of a histone H3/H4 chaperone. This protein is associated with double-strand break repair of DNA damage caused by radiation. Pseudogenes of this gene are present on chromosomes 10 and 17. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]

CIViC summary for TLK2 Gene

GeneCards Summary for TLK2 Gene

TLK2 (Tousled Like Kinase 2) is a Protein Coding gene. Diseases associated with TLK2 include Mental Retardation, Autosomal Dominant 57. Among its related pathways are DNA Damage Response and Chks in Checkpoint Regulation. 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 TLK1.

UniProtKB/Swiss-Prot for TLK2 Gene

  • Serine/threonine-protein kinase involved in the process of chromatin assembly and probably also DNA replication, transcription, repair, and chromosome segregation. Phosphorylates the chromatin assembly factors ASF1A AND ASF1B. Phosphorylation of ASF1A prevents its proteasome-mediated degradation, thereby enhancing chromatin assembly. Negative regulator of amino acid starvation-induced autophagy.

Gene Wiki entry for TLK2 Gene

Additional gene information for TLK2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TLK2 Gene

Genomics for TLK2 Gene

GeneHancer (GH) Regulatory Elements for TLK2 Gene

Promoters and enhancers for TLK2 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
GH17J062477 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE dbSUPER 616.2 +20.5 20543 4.4 ZFX ZNF652 ZNF148 NKRF POLR2A MLLT1 ZNF639 IKZF1 GLIS2 ZBTB8A TLK2 MED13 ENSG00000239246 MRC2 METTL2A INTS2
GH17J062459 Promoter 0.9 Ensembl 600.7 +0.7 743 0.4 ZNF148 GTF2F1 SMARCA4 IKZF1 ATF1 MGA POLR2A NFRKB ZNF592 CEBPB TLK2 ENSG00000263644 ENSG00000239246
GH17J062458 Promoter 0.5 EPDnew 600.7 0.0 -15 0.1 TLK2 PIR60058
GH17J063444 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 15.9 +988.0 988033 4.3 MTA3 CC2D1A ZFX ZKSCAN8 ZNF148 NKRF MLLT1 GTF2F1 CSDE1 ZNF687 CYB561 FTSJ3 TLK2 MAP3K3 ENSG00000265971
GH17J062625 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE dbSUPER 16 +169.9 169863 5.9 MTA3 SP1 ZNF148 CEBPG MAFK MYC ZBTB7A ELF1 PRDM1 MZF1 MRC2 ENSG00000274565 TLK2 INTS2 MED13 DCAF7 MAP3K3 ENSG00000277463 GC17P062639
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TLK2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the TLK2 gene promoter:
  • GATA-3
  • HEN1
  • ITF-2
  • Nkx6-1
  • Pax-5
  • POU2F1
  • POU2F1a
  • Sp1
  • Tal-1beta

Genomic Locations for TLK2 Gene

Genomic Locations for TLK2 Gene
chr17:62,458,658-62,615,481
(GRCh38/hg38)
Size:
156,824 bases
Orientation:
Plus strand
chr17:60,536,019-60,692,842
(GRCh37/hg19)
Size:
156,824 bases
Orientation:
Plus strand

Genomic View for TLK2 Gene

Genes around TLK2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TLK2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TLK2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TLK2 Gene

Proteins for TLK2 Gene

  • Protein details for TLK2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q86UE8-TLK2_HUMAN
    Recommended name:
    Serine/threonine-protein kinase tousled-like 2
    Protein Accession:
    Q86UE8
    Secondary Accessions:
    • D3DU07
    • Q9UKI7
    • Q9Y4F7

    Protein attributes for TLK2 Gene

    Size:
    772 amino acids
    Molecular mass:
    87661 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    • Monomer and heterodimer with TLK1. Interacts with ASF1A and ASF1B. Association with 14-3-3 proteins such as YWHAZ regulates subcellular location. May also interact with FEZ1/LZTS1 and FEZ2.
    SequenceCaution:
    • Sequence=AAF03095.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAH44925.2; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAA20561.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for TLK2 Gene

    Alternative splice isoforms for TLK2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TLK2 Gene

Selected DME Specific Peptides for TLK2 Gene

Q86UE8:
  • EKKENYHKHACREYRIHK
  • RYLLLHLLGRGGFSEVYKAFDL
  • VNALKYLNEI
  • LEKYKERLN
  • ELHSLDPRRQELLEARF
  • AGTYWYLPPE
  • IKITDFGL
  • KPGNILL
  • GNDLDFYLKQ
  • LDHPRIVKLYDYFSLDTD
  • DPYLLPHIRKSV
  • EQWTDGYAFQNL
  • AVKIHQLNK
  • SQFKDHPTLN
  • IKITDFG
  • CVTMSKKLLIEKSKQEK

Post-translational modifications for TLK2 Gene

Domains & Families for TLK2 Gene

Gene Families for TLK2 Gene

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

Protein Domains for TLK2 Gene

Suggested Antigen Peptide Sequences for TLK2 Gene

GenScript: Design optimal peptide antigens:
  • Tousled-like kinase 2, isoform CRA_a (D3DU05_HUMAN)
  • Tousled-like kinase 2 (TLK2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q86UE8

UniProtKB/Swiss-Prot:

TLK2_HUMAN :
  • Belongs to the protein kinase superfamily. Ser/Thr protein kinase family.
Family:
  • Belongs to the protein kinase superfamily. Ser/Thr protein kinase family.
genes like me logo Genes that share domains with TLK2: view

Function for TLK2 Gene

Molecular function for TLK2 Gene

UniProtKB/Swiss-Prot Function:
Serine/threonine-protein kinase involved in the process of chromatin assembly and probably also DNA replication, transcription, repair, and chromosome segregation. Phosphorylates the chromatin assembly factors ASF1A AND ASF1B. Phosphorylation of ASF1A prevents its proteasome-mediated degradation, thereby enhancing chromatin assembly. Negative regulator of amino acid starvation-induced autophagy.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl-[protein]; Xref=Rhea:RHEA:17989, Rhea:RHEA-COMP:9863, Rhea:RHEA-COMP:11604, ChEBI:CHEBI:15378, ChEBI:CHEBI:29999, ChEBI:CHEBI:30616, ChEBI:CHEBI:83421, ChEBI:CHEBI:456216; EC=2.7.11.1; Evidence={ECO:0000269 PubMed:10523312, ECO:0000269 PubMed:12660173, ECO:0000269 PubMed:9427565};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + L-threonyl-[protein] = ADP + H(+) + O-phospho-L-threonyl-[protein]; Xref=Rhea:RHEA:46608, Rhea:RHEA-COMP:11060, Rhea:RHEA-COMP:11605, ChEBI:CHEBI:15378, ChEBI:CHEBI:30013, ChEBI:CHEBI:30616, ChEBI:CHEBI:61977, ChEBI:CHEBI:456216; EC=2.7.11.1; Evidence={ECO:0000269 PubMed:10523312, ECO:0000269 PubMed:12660173, ECO:0000269 PubMed:9427565};.
UniProtKB/Swiss-Prot EnzymeRegulation:
Cell cycle-regulated, with maximal activity in the S-phase. Rapidly and transiently inhibited by phosphorylation following the generation of DNA double-stranded breaks during S-phase, probably by CHEK1, possibly at Ser-750. This inhibition is cell cycle checkpoint- and ATM-dependent.
GENATLAS Biochemistry:
tousled-like kinase 2,nuclear serine/threonine kinase PKU alpha

Enzyme Numbers (IUBMB) for TLK2 Gene

Phenotypes From GWAS Catalog for TLK2 Gene

Gene Ontology (GO) - Molecular Function for TLK2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004672 protein kinase activity IEA --
GO:0004674 protein serine/threonine kinase activity IDA,IEA 12660173
GO:0005515 protein binding IPI 21903422
GO:0005524 ATP binding IEA,IDA 12660173
GO:0016301 kinase activity IEA --
genes like me logo Genes that share ontologies with TLK2: view
genes like me logo Genes that share phenotypes with TLK2: view

Human Phenotype Ontology for TLK2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for TLK2 Gene

MGI Knock Outs for TLK2:
  • Tlk2 Tlk2<tm1.2Strc>
  • Tlk2 Tlk2<tm1Strc>

Animal Model Products

  • Taconic Biosciences Mouse Models for TLK2

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TLK2

Clone Products

  • Applied Biological Materials (abm): Clones for TLK2 - Now 50% OFF >
  • * TLK2 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * TLK2 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All
  • Addgene plasmids for TLK2

No data available for Transcription Factor Targets and HOMER Transcription for TLK2 Gene

Localization for TLK2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TLK2 Gene

Nucleus. Cytoplasm, perinuclear region. Cytoplasm, cytoskeleton. Note=Colocalizes with the cytoplasmic intermediate filament system during the G1 phase of the cell cycle. Present in the perinuclear region at S phase and in the nucleus at late G2.

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 TLK2 gene
Compartment Confidence
cytoskeleton 5
nucleus 5
cytosol 1

Gene Ontology (GO) - Cellular Components for TLK2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA,IEA 9427565
GO:0005737 cytoplasm IEA --
GO:0005856 cytoskeleton IEA --
GO:0005882 intermediate filament IDA 10455159
GO:0048471 perinuclear region of cytoplasm IDA,IEA 10455159
genes like me logo Genes that share ontologies with TLK2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for TLK2 Gene

Pathways & Interactions for TLK2 Gene

genes like me logo Genes that share pathways with TLK2: view

Pathways by source for TLK2 Gene

2 BioSystems pathways for TLK2 Gene
1 Qiagen pathway for TLK2 Gene

Gene Ontology (GO) - Biological Process for TLK2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001672 regulation of chromatin assembly or disassembly IDA 12660173
GO:0006325 chromatin organization IEA --
GO:0006468 protein phosphorylation IEA,IDA 12660173
GO:0006974 cellular response to DNA damage stimulus IEA,IDA 12660173
GO:0007049 cell cycle IEA --
genes like me logo Genes that share ontologies with TLK2: view

No data available for SIGNOR curated interactions for TLK2 Gene

Drugs & Compounds for TLK2 Gene

(7) Drugs for TLK2 Gene - From: DrugBank, HMDB, and Novoseek

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

(3) Additional Compounds for TLK2 Gene - From: Novoseek and 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 TLK2: view

Transcripts for TLK2 Gene

Unigene Clusters for TLK2 Gene

Tousled-like kinase 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TLK2

Clone Products

  • Applied Biological Materials (abm): Clones for TLK2 - Now 50% OFF >
  • * TLK2 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * TLK2 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All
  • Addgene plasmids for TLK2

Alternative Splicing Database (ASD) splice patterns (SP) for TLK2 Gene

No ASD Table

Relevant External Links for TLK2 Gene

GeneLoc Exon Structure for
TLK2
ECgene alternative splicing isoforms for
TLK2

Expression for TLK2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TLK2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for TLK2 Gene

This gene is overexpressed in CD8 Tcells (11.0), Peripheral blood mononuclear cells (9.3), Breast (8.6), Lymph node (8.2), Fetal ovary (7.9), and Testis (6.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for TLK2 Gene



Protein tissue co-expression partners for TLK2 Gene

NURSA nuclear receptor signaling pathways regulating expression of TLK2 Gene:

TLK2

SOURCE GeneReport for Unigene cluster for TLK2 Gene:

Hs.445078

mRNA Expression by UniProt/SwissProt for TLK2 Gene:

Q86UE8-TLK2_HUMAN
Tissue specificity: Ubiquitous. Detected in placenta, fetal liver, kidney, pancreas, heart and skeletal muscle. Highly expressed in testis. Detected in spleen, thymus, colon, ovary, small intestine, prostate and peripheral blood leukocytes.

Evidence on tissue expression from TISSUES for TLK2 Gene

  • Liver(4.3)
  • Nervous system(2.7)
genes like me logo Genes that share expression patterns with TLK2: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for TLK2 Gene

Orthologs for TLK2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for TLK2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TLK2 35 34
  • 99.91 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 96 (a)
OneToMany
-- 35
  • 80 (a)
OneToMany
cow
(Bos Taurus)
Mammalia TLK2 35 34
  • 95.91 (n)
OneToOne
dog
(Canis familiaris)
Mammalia TLK2 35 34
  • 95.6 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Tlk2 17 35 34
  • 93.6 (n)
rat
(Rattus norvegicus)
Mammalia Tlk2 34
  • 93.56 (n)
oppossum
(Monodelphis domestica)
Mammalia TLK2 35
  • 89 (a)
OneToOne
chicken
(Gallus gallus)
Aves TLK2 35 34
  • 87.17 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TLK2 35
  • 96 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tlk2 34
  • 80.65 (n)
zebrafish
(Danio rerio)
Actinopterygii tlk2 35 34
  • 74.06 (n)
OneToOne
Dr.7649 34
fruit fly
(Drosophila melanogaster)
Insecta BcDNA:GH07910 36
  • 75 (a)
tlk 35 34
  • 60.88 (n)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea tlk-1 35 34
  • 54.08 (n)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MPS1 35
  • 16 (a)
OneToMany
corn
(Zea mays)
Liliopsida Zm.10347 34
sea squirt
(Ciona savignyi)
Ascidiacea CSA.566 35
  • 65 (a)
OneToMany
Cin.14850 34
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.14850 34
Species where no ortholog for TLK2 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)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • 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)
  • 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)

Evolution for TLK2 Gene

ENSEMBL:
Gene Tree for TLK2 (if available)
TreeFam:
Gene Tree for TLK2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for TLK2: view image

Paralogs for TLK2 Gene

Paralogs for TLK2 Gene

(21) SIMAP similar genes for TLK2 Gene using alignment to 10 proteins:

  • TLK2_HUMAN
  • D3DU05_HUMAN
  • J3KRK0_HUMAN
  • J3KST4_HUMAN
  • J3KT82_HUMAN
  • J3QLK5_HUMAN
  • J3QQN4_HUMAN
  • J3QR10_HUMAN
  • J3QS44_HUMAN
  • J3QS73_HUMAN

Pseudogenes.org Pseudogenes for TLK2 Gene

genes like me logo Genes that share paralogs with TLK2: view

Variants for TLK2 Gene

Sequence variations from dbSNP and Humsavar for TLK2 Gene

SNP ID Clin Chr 17 pos Variation AA Info Type
rs1283838287 Mental retardation, autosomal dominant 57 (MRD57) [MIM:618050] 62,600,736(+) C/T coding_sequence_variant, genic_downstream_transcript_variant, missense_variant
rs1331331651 A gastric adenocarcinoma sample 62,536,325(+) C/A coding_sequence_variant, missense_variant
rs1555639254 pathogenic, MENTAL RETARDATION, AUTOSOMAL DOMINANT 57 62,565,059(+) G/A coding_sequence_variant, missense_variant
rs1555644480 pathogenic, MENTAL RETARDATION, AUTOSOMAL DOMINANT 57 62,573,235(+) C/A coding_sequence_variant, stop_gained
rs1555651572 pathogenic, MENTAL RETARDATION, AUTOSOMAL DOMINANT 57 62,586,228(+) T/G splice_donor_variant

Structural Variations from Database of Genomic Variants (DGV) for TLK2 Gene

Variant ID Type Subtype PubMed ID
esv1421317 OTHER inversion 17803354
esv3640974 CNV gain 21293372
nsv1109100 CNV deletion 24896259
nsv1141308 CNV duplication 24896259
nsv2114 CNV insertion 18451855
nsv473798 CNV novel sequence insertion 20440878
nsv509664 CNV insertion 20534489
nsv516636 CNV loss 19592680
nsv952352 CNV duplication 24416366
nsv954596 CNV deletion 24416366
nsv960517 CNV duplication 23825009
nsv960518 CNV duplication 23825009
nsv962359 CNV duplication 23825009
nsv978451 CNV duplication 23825009

Variation tolerance for TLK2 Gene

Residual Variation Intolerance Score: 18.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.53; 11.44% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TLK2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TLK2
Human Gene Mutation Database (HGMD)
TLK2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TLK2 Gene

Disorders for TLK2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for TLK2 Gene - From: HGMD, OMIM, ClinVar, Swiss-Prot, and GeneCards

Disorder Aliases PubMed IDs
mental retardation, autosomal dominant 57
  • mrd57
- elite association - COSMIC cancer census association via MalaCards
Search TLK2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

TLK2_HUMAN
  • Mental retardation, autosomal dominant 57 (MRD57) [MIM:618050]: A form of mental retardation, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRD57 is characterized by delayed psychomotor development apparent in infancy or early childhood, and a variety of behavioral abnormalities. Affected individuals may have severe gastro-intestinal problems, and facial dysmorphism. MRD57 inheritance is autosomal dominant. {ECO:0000269 PubMed:27479843, ECO:0000269 PubMed:29861108}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for TLK2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with TLK2: view

No data available for Genatlas for TLK2 Gene

Publications for TLK2 Gene

  1. Identification of human Asf1 chromatin assembly factors as substrates of Tousled-like kinases. (PMID: 11470414) Silljé HH … Nigg EA (Current biology : CB 2001) 3 4 23 58
  2. Mammalian homologues of the plant Tousled gene code for cell-cycle-regulated kinases with maximal activities linked to ongoing DNA replication. (PMID: 10523312) Silljé HH … Nigg EA (The EMBO journal 1999) 2 3 4 58
  3. cDNA cloning and chromosomal mapping of genes encoding novel protein kinases termed PKU-alpha and PKU-beta, which have nuclear localization signal. (PMID: 9427565) Yamakawa A … Date T (Gene 1997) 2 3 4 58
  4. De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder. (PMID: 29861108) Reijnders MRF … Wilkie AOM (American journal of human genetics 2018) 3 4 58
  5. Genome-wide siRNA screen reveals amino acid starvation-induced autophagy requires SCOC and WAC. (PMID: 22354037) McKnight NC … Tooze SA (The EMBO journal 2012) 3 4 58

Products for TLK2 Gene

Sources for TLK2 Gene

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