Gene Gene information from NCBI Gene database.
Entrez ID 5429
Gene name DNA polymerase eta
Gene symbol POLH
Synonyms (NCBI Gene)
RAD30RAD30AXP-VXPV
Chromosome 6
Chromosome location 6p21.1
Summary This gene encodes a member of the Y family of specialized DNA polymerases. It copies undamaged DNA with a lower fidelity than other DNA-directed polymerases. However, it accurately replicates UV-damaged DNA; when thymine dimers are present, this polymeras
SNPs SNP information provided by dbSNP.
15
SNP ID Visualize variation Clinical significance Consequence
rs56307355 A>C,G Benign, likely-pathogenic 3 prime UTR variant, coding sequence variant, missense variant
rs121908562 G>T Pathogenic Stop gained, coding sequence variant
rs121908563 C>T Pathogenic 5 prime UTR variant, intron variant, coding sequence variant, stop gained
rs121908564 C>T Pathogenic Stop gained, coding sequence variant
rs121908565 A>C Pathogenic Missense variant, 3 prime UTR variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
1239
miRTarBase ID miRNA Experiments Reference
MIRT047103 hsa-miR-183-5p CLASH 23622248
MIRT1247686 hsa-miR-1 CLIP-seq
MIRT1247687 hsa-miR-101 CLIP-seq
MIRT1247688 hsa-miR-106a CLIP-seq
MIRT1247689 hsa-miR-106b CLIP-seq
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
IRF1 Unknown 22367195
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
35
GO ID Ontology Definition Evidence Reference
GO:0000731 Process DNA synthesis involved in DNA repair IDA 17563354
GO:0003677 Function DNA binding IEA
GO:0003684 Function Damaged DNA binding IEA
GO:0003684 Function Damaged DNA binding TAS 10385124
GO:0003887 Function DNA-directed DNA polymerase activity IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
603968 9181 ENSG00000170734
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9Y253
Protein name DNA polymerase eta (EC 2.7.7.7) (RAD30 homolog A) (Xeroderma pigmentosum variant type protein)
Protein function DNA polymerase specifically involved in the DNA repair by translesion synthesis (TLS) (PubMed:10385124, PubMed:11743006, PubMed:16357261, PubMed:24449906, PubMed:24553286, PubMed:38212351). Due to low processivity on both damaged and normal DNA,
PDB 2I5O , 2LSK , 3JAA , 3MR2 , 3MR3 , 3MR5 , 3MR6 , 3SI8 , 3TQ1 , 3WUP , 4DL2 , 4DL3 , 4DL4 , 4DL5 , 4DL6 , 4DL7 , 4ECQ , 4ECR , 4ECS , 4ECT , 4ECU , 4ECV , 4ECW , 4ECX , 4ECY , 4ECZ , 4ED0 , 4ED1 , 4ED2 , 4ED3 , 4ED6 , 4ED7 , 4ED8 , 4EEY , 4J9K , 4J9L , 4J9M , 4J9N , 4J9O , 4J9P , 4J9Q , 4J9R , 4J9S , 4O3N , 4O3O , 4O3P , 4O3Q , 4O3R , 4O3S , 4Q8E , 4Q8F
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00817 IMS 12 228 impB/mucB/samB family Family
PF11799 IMS_C 309 439 impB/mucB/samB family C-terminal domain Domain
PF18439 zf_UBZ 631 662 Ubiquitin-Binding Zinc Finger Domain
Sequence
MATGQDRVVALVDMDCFFVQVEQRQNPHLRNKPCAVVQYKSWKGGGIIAVSYEARAFGVT
RSMWADDAKKLCPDLLLAQVRESRGKANLTKYREASVEVMEIMSRFAVIERASIDEAYVD
LTSAVQERLQKLQGQPISADLLPSTYIEGLPQGPTTAEETVQKEGMRKQGLFQWLDSLQI
DNLTSPDLQLTVGAVIVEEMRAAIERETGFQCSAGISHNKVLAKLACG
LNKPNRQTLVSH
GSVPQLFSQMPIRKIRSLGGKLGASVIEILGIEYMGELTQFTESQLQSHFGEKNGSWLYA
MCRGIEHDPVKPRQLPKTIGCSKNFPGKTALATREQVQWWLLQLAQELEERLTKDRNDND
RVATQLVVSIRVQGDKRLSSLRRCCALTRYDAHKMSHDAFTVIKNCNTSGIQTEWSPPLT
MLFLCATKFSASAPSSSTD
ITSFLSSDPSSLPKVPVTSSEAKTQGSGPAVTATKKATTSL
ESFFQKAAERQKVKEASLSSLTAPTQAPMSNSPSKPSLPFQTSQSTGTEPFFKQKSLLLK
QKQLNNSSVSSPQQNPWSNCKALPNSLPTEYPGCVPVCEGVSKLEESSKATPAEMDLAHN
SQSMHASSASKSVLEVTQKATPNPSLLAAEDQVPCEKCGSLVPVWDMPEHMDYHFALELQ
KS
FLQPHSSNPQVVSAVSHQGKRNPKSPLACTNKRPRPEGMQTLESFFKPLTH
Sequence length 713
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Platinum drug resistance
Fanconi anemia pathway
  Translesion Synthesis by POLH
Termination of translesion DNA synthesis
HDR through Homologous Recombination (HRR)
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
342
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Hepatocellular carcinoma Likely pathogenic; Pathogenic rs767433001 RCV005893889
POLH-related disorder Likely pathogenic; Pathogenic rs750991026 RCV003420564
See cases Likely pathogenic; Pathogenic rs763654639 RCV002252782
Xeroderma pigmentosum Pathogenic; Likely pathogenic rs1277794845, rs759607901, rs767433001 RCV002266426
RCV005055738
RCV001195542
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign; Likely benign rs2307464 RCV005911653
Cervical cancer Likely benign rs770031528 RCV005935098
Clear cell carcinoma of kidney Benign; Likely benign rs2307464 RCV005911655
Familial cancer of breast - rs1395523441 RCV005930270
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Carcinogenesis Associate 22822095, 29139326
Colorectal Neoplasms Associate 24259968
Immunologic Deficiency Syndromes Inhibit 22822095
Muscular dystrophy congenital with central nervous system involvement Associate 38040034
Neoplasms Associate 11113193, 11459975, 11585903, 14734526, 15569147, 22562137, 25268038, 29139326, 37142601, 38212351
Neoplasms Inhibit 11891323
Skin Neoplasms Associate 11113111, 19380493, 20577207, 22822095, 28423907, 29139326
Stomach Neoplasms Associate 21110884
Xeroderma Pigmentosum Associate 10856253, 10887158, 11157773, 11773631, 15342632, 15569147, 18068156, 23755135, 26874523, 29208038, 35328096, 38212351
Xeroderma Pigmentosum Stimulate 37142601