Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
11011
Gene name Gene Name - the full gene name approved by the HGNC.
Tousled like kinase 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
TLK2
Synonyms (NCBI Gene) Gene synonyms aliases
HsHPK, MRD57, PKU-ALPHA
Chromosome Chromosome number
17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
17q23.2
Summary Summary of gene provided in NCBI Entrez 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 c
SNPs SNP information provided by dbSNP.
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.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
608439 11842 ENSG00000146872
Protein
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Mental retardation Intellectual disability, autosomal dominant 57 rs138247472, rs1598620094, rs1567974030, rs1567995650, rs1555660806, rs1283838287, rs1555644480, rs1568003569, rs1555651572, rs1568006217, rs1567758622, rs1568018905, rs1567844041, rs1567870541, rs1567844114
View all (4 more)
N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Alzheimer disease Alzheimer's disease or family history of Alzheimer's disease N/A N/A GWAS
Diabetes Type 2 diabetes N/A N/A GWAS
Associations from Text Mining Disease 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