Gene Gene information from NCBI Gene database.
Entrez ID 11011
Gene name Tousled like kinase 2
Gene symbol TLK2
Synonyms (NCBI Gene)
HsHPKMRD57PKU-ALPHA
Chromosome 17
Chromosome location 17q23.2
Summary 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 c
SNPs SNP information provided by dbSNP.
29
SNP ID Visualize variation Clinical significance Consequence
rs138247472 C>A,T Pathogenic Coding sequence variant, synonymous variant, stop gained
rs758726258 C>A,T Pathogenic Coding sequence variant, stop gained, synonymous variant, 5 prime UTR variant
rs1057524147 T>C Likely-pathogenic Coding sequence variant, missense variant
rs1283838287 C>T Likely-pathogenic Coding sequence variant, genic downstream transcript variant, missense variant
rs1555639317 A>- Pathogenic Frameshift variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
498
miRTarBase ID miRNA Experiments Reference
MIRT038762 hsa-miR-93-3p CLASH 23622248
MIRT525262 hsa-miR-4499 PAR-CLIP 22012620
MIRT525261 hsa-miR-4494 PAR-CLIP 22012620
MIRT525260 hsa-miR-6790-3p PAR-CLIP 22012620
MIRT525259 hsa-miR-4695-3p PAR-CLIP 22012620
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
37
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0004672 Function Protein kinase activity IEA
GO:0004674 Function Protein serine/threonine kinase activity IBA
GO:0004674 Function Protein serine/threonine kinase activity IDA 12660173
GO:0004674 Function Protein serine/threonine kinase activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
608439 11842 ENSG00000146872
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q86UE8
Protein name Serine/threonine-protein kinase tousled-like 2 (EC 2.7.11.1) (HsHPK) (PKU-alpha) (Tousled-like kinase 2)
Protein function Serine/threonine-protein kinase involved in the process of chromatin assembly and probably also DNA replication, transcription, repair, and chromosome segregation (PubMed:10523312, PubMed:11470414, PubMed:12660173, PubMed:12955071, PubMed:299550
PDB 5O0Y , 7LO0
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00069 Pkinase 462 741 Protein kinase domain Domain
Tissue specificity TISSUE SPECIFICITY: Detected in placenta, fetal liver, kidney, pancreas, heart and skeletal muscle (PubMed:9427565). Highly expressed in testis (PubMed:9427565, PubMed:9662073). Detected in spleen, thymus, colon, ovary, small intestine, prostate and perip
Sequence
MMEELHSLDPRRQELLEARFTGVGVSKGPLNSESSNQSLCSVGSLSDKEVETPEKKQNDQ
RNRKRKAEPYETSQGKGTPRGHKISDYFEFAGGSAPGTSPGRSVPPVARSSPQHSLSNPL
PRRVEQPLYGLDGSAAKEATEEQSALPTLMSVMLAKPRLDTEQLAQRGAGLCFTFVSAQQ
NSPSSTGSGNTEHSCSSQKQISIQHRQTQSDLTIEKISALENSKNSDLEKKEGRIDDLLR
ANCDLRRQIDEQQKMLEKYKERLNRCVTMSKKLLIEKSKQEKMACRDKSMQDRLRLGHFT
TVRHGASFTEQWTDGYAFQNLIKQQERINSQREEIERQRKMLAKRKPPAMGQAPPATNEQ
KQRKSKTNGAENETPSSGNTELKDTAPALGAHSLLRLTLAEYHEQEEIFKLRLGHLKKEE
AEIQAELERLERVRNLHIRELKRIHNEDNSQFKDHPTLNDRYLLLHLLGRGGFSEVYKAF
DLTEQRYVAVKIHQLNKNWRDEKKENYHKHACREYRIHKELDHPRIVKLYDYFSLDTDSF
CTVLEYCEGNDLDFYLKQHKLMSEKEARSIIMQIVNALKYLNEIKPPIIHYDLKPGNILL
VNGTACGEIKITDFGLSKIMDDDSYNSVDGMELTSQGAGTYWYLPPECFVVGKEPPKISN
KVDVWSVGVIFYQCLYGRKPFGHNQSQQDILQENTILKATEVQFPPKPVVTPEAKAFIRR
CLAYRKEDRIDVQQLACDPYL
LPHIRKSVSTSSPAGAAIASTSGASNNSSSN
Sequence length 772
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
94
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cervical cancer Likely pathogenic; Pathogenic rs2146617330 RCV005930201
Developmental disorder Likely pathogenic rs2545779233 RCV003127349
Intellectual disability Likely pathogenic; Pathogenic rs2082914686 RCV004798899
Intellectual disability, autosomal dominant 57 Likely pathogenic; Pathogenic rs2147165095, rs2147105351, rs2144334211, rs2144333874, rs2146204977, rs2146767502, rs2146617330, rs2546014238, rs763883046, rs2545119735, rs2546025747, rs1555660806, rs1555644480, rs1555651572, rs1567758622
View all (18 more)
RCV001353380
RCV001775176
RCV001706852
RCV001775365
RCV002077381
RCV002272984
RCV002273091
RCV002280349
RCV002465386
RCV003594713
RCV003990482
RCV000663346
RCV000663348
RCV000663349
RCV000755749
RCV000755739
RCV000755733
RCV000755731
RCV000755728
RCV000755745
RCV000755713
RCV000755742
RCV000755743
RCV000755753
RCV000755707
RCV000755723
RCV001779073
RCV000850609
RCV000995901
RCV001249260
RCV001028106
RCV001257568
RCV001257569
RCV001257571
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Abnormalities Drug Induced Associate 33323470
Blepharophimosis Associate 29861108
Breast Neoplasms Associate 19454617, 21607584, 27251275, 27489360, 29955062
Carcinoma Renal Cell Associate 34793840
Chromosomal Instability Stimulate 27489360
Colorectal Neoplasms Associate 26486455
Dental Fissures Associate 29861108
Developmental Disabilities Associate 29861108, 33323470
Disease Associate 31558842
Epilepsy Associate 33323470