Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
51426
Gene name Gene Name - the full gene name approved by the HGNC.
DNA polymerase kappa
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
POLK
Synonyms (NCBI Gene) Gene synonyms aliases
DINB1, DINP, POLQ
Chromosome Chromosome number
5
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
5q13.3
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a member of the DNA polymerase type-Y family of proteins. The encoded protein is a specialized DNA polymerase that catalyzes translesion DNA synthesis, which allows DNA replication in the presence of DNA lesions. Human cell lines lacking
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs111584802 A>G Pathogenic Coding sequence variant, non coding transcript variant, missense variant
rs139591993 A>C,T Pathogenic Missense variant, coding sequence variant, non coding transcript variant
rs148960463 G>A Pathogenic 5 prime UTR variant, non coding transcript variant, coding sequence variant, missense variant, genic upstream transcript variant, intron variant
rs749804502 G>A,T Pathogenic Non coding transcript variant, genic upstream transcript variant, coding sequence variant, missense variant
rs770984846 G>A Pathogenic Synonymous variant, coding sequence variant, non coding transcript variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT017418 hsa-miR-335-5p Microarray 18185580
MIRT021743 hsa-miR-132-3p Microarray 17612493
MIRT1247981 hsa-miR-1185 CLIP-seq
MIRT1247982 hsa-miR-1224-5p CLIP-seq
MIRT1247983 hsa-miR-1237 CLIP-seq
Transcription factors
Transcription factor Regulation Reference
HSF1 Activation 22227292
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0003684 Function Damaged DNA binding IEA
GO:0003887 Function DNA-directed DNA polymerase activity IBA 21873635
GO:0005634 Component Nucleus IBA 21873635
GO:0005654 Component Nucleoplasm IDA
GO:0005654 Component Nucleoplasm TAS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
605650 9183 ENSG00000122008
Protein
UniProt ID Q9UBT6
Protein name DNA polymerase kappa (EC 2.7.7.7) (DINB protein) (DINP)
Protein function DNA polymerase specifically involved in DNA repair. Plays an important role in translesion synthesis, where the normal high-fidelity DNA polymerases cannot proceed and DNA synthesis stalls. Depending on the context, it inserts the correct base,
PDB 1T94 , 2LSI , 2OH2 , 2W7O , 2W7P , 3IN5 , 3PZP , 4BA9 , 4GK5 , 4U6P , 4U7C , 5T14 , 5W2A , 5W2C , 6BRX , 6BS1 , 6CST , 7NV0 , 7NV1
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00817 IMS 106 325 impB/mucB/samB family Family
PF11798 IMS_HHH 339 370 IMS family HHH motif Motif
PF11799 IMS_C 407 526 impB/mucB/samB family C-terminal domain Domain
Tissue specificity TISSUE SPECIFICITY: Detected at low levels in testis, spleen, prostate and ovary. Detected at very low levels in kidney, colon, brain, heart, liver, lung, placenta, pancreas and peripheral blood leukocytes. {ECO:0000269|PubMed:10518552, ECO:0000269|PubMed
Sequence
MDSTKEKCDSYKDDLLLRMGLNDNKAGMEGLDKEKINKIIMEATKGSRFYGNELKKEKQV
NQRIENMMQQKAQITSQQLRKAQLQVDRFAMELEQSRNLSNTIVHIDMDAFYAAVEMRDN
PELKDKPIAVGSMSMLSTSNYHARRFGVRAAMPGFIAKRLCPQLIIVPPNFDKYRAVSKE
VKEILADYDPNFMAMSLDEAYLNITKHLEERQNWPEDKRRYFIKMGSSVENDNPGKEVNK
LSEHERSISPLLFEESPSDVQPPGDPFQVNFEEQNNPQILQNSVVFGTSAQEVVKEIRFR
IEQKTTLTASAGIAPNTMLAKVCSD
KNKPNGQYQILPNRQAVMDFIKDLPIRKVSGIGKV
TEKMLKALGI
ITCTELYQQRALLSLLFSETSWHYFLHISLGLGSTHLTRDGERKSMSVER
TFSEINKAEEQYSLCQELCSELAQDLQKERLKGRTVTIKLKNVNFEVKTRASTVSSVVST
AEEIFAIAKELLKTEIDADFPHPLRLRLMGVRISSFPNEEDRKHQQ
RSIIGFLQAGNQAL
SATECTLEKTDKDKFVKPLEMSHKKSFFDKKRSERKWSHQDTFKCEAVNKQSFQTSQPFQ
VLKKKMNENLEISENSDDCQILTCPVCFRAQGCISLEALNKHVDECLDGPSISENFKMFS
CSHVSATKVNKKENVPASSLCEKQDYEAHPKIKEISSVDCIALVDTIDNSSKAESIDALS
NKHSKEECSSLPSKSFNIEHCHQNSSSTVSLENEDVGSFRQEYRQPYLCEVKTGQALVCP
VCNVEQKTSDLTLFNVHVDVCLNKSFIQELRKDKFNPVNQPKESSRSTGSSSGVQKAVTR
TKRPGLMTKYSTSKKIKPNNPKHTLDIFFK
Sequence length 870
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Fanconi anemia pathway
Epstein-Barr virus infection
Pathways in cancer
Transcriptional misregulation in cancer
Colorectal cancer
Pancreatic cancer
Endometrial cancer
Glioma
Thyroid cancer
Basal cell carcinoma
Melanoma
Chronic myeloid leukemia
Small cell lung cancer
Non-small cell lung cancer
Breast cancer
Hepatocellular carcinoma
Gastric cancer
  Translesion synthesis by POLK
Termination of translesion DNA synthesis
HDR through Homologous Recombination (HRR)
Gap-filling DNA repair synthesis and ligation in GG-NER
Dual Incision in GG-NER
Dual incision in TC-NER
Gap-filling DNA repair synthesis and ligation in TC-NER
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Atrial fibrillation Atrial Fibrillation rs120074192, rs121908590, rs121908593, rs121434558, rs587776851, rs387906612, rs387906613, rs387906614, rs387906615, rs199472687, rs199472705, rs199473324, rs587777336, rs587777339, rs587777557
View all (6 more)
27790247
Diabetes Diabetes rs80356611 27790247
Diabetes mellitus Diabetes Mellitus rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs1362648752, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237
View all (293 more)
27790247
Glioblastoma Glioblastoma, Glioblastoma Multiforme rs121913500, rs886042842, rs1555138291, rs1558518449, rs1567176006, rs1558650888 26651356
Unknown
Disease term Disease name Evidence References Source
Coronary heart disease Coronary heart disease 27790247 ClinVar
Heart failure Heart failure 27790247 ClinVar
Associations from Text Mining
Disease Name Relationship Type References
Azoospermia Nonobstructive Associate 38403804
Breast Neoplasms Associate 26765445, 29879995
Carcinoma Renal Cell Associate 37095444
Esophageal Squamous Cell Carcinoma Associate 36803971
Glioblastoma Associate 26651356, 31082191
Glioma Associate 23056190, 31595696
Kidney Neoplasms Associate 37095444
Leukemia Lymphoma Adult T Cell Inhibit 25185513
Lung Neoplasms Associate 24012694
Neoplasms Associate 24012694, 26765445, 30004685, 31595696, 33110154