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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
20
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Hepatocellular carcinoma Likely pathogenic; Pathogenic rs767433001 RCV005893889
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
POLH-related disorder Likely pathogenic; Pathogenic rs750991026 RCV003420564
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Xeroderma pigmentosum Pathogenic; Likely pathogenic rs1277794845, rs759607901, rs767433001 RCV002266426
RCV005055738
RCV001195542
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Xeroderma pigmentosum variant type Pathogenic; Likely pathogenic rs1582297122, rs772778835, rs2127821940, rs559497462, rs763654639, rs2127773185, rs2127773120, rs121908562, rs121908563, rs121908564, rs1176350430, rs1426687865, rs772570523, rs759607901, rs767433001
View all (5 more)
RCV005882565
RCV001779220
RCV001808275
RCV003994368
RCV002250252
View all (15 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Acute myeloid leukemia Benign; Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cervical cancer Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney Benign; Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
EOSINOPHILIC ESOPHAGITIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Arthritis, Psoriatic Psoriatic Arthritis BEFREE 28645582
★☆☆☆☆
Found in Text Mining only
Breast Cancer, Familial Breast Cancer BEFREE 30303537
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 22822095, 29139326 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Carcinoma BEFREE 25575132
★☆☆☆☆
Found in Text Mining only
Carcinoma, Basal Cell Carcinoma HPO_DG
★☆☆☆☆
Found in Text Mining only
Cockayne Syndrome, Type I Cockayne Syndrome BEFREE 20215648
★☆☆☆☆
Found in Text Mining only
Colorectal Carcinoma Colorectal Cancer BEFREE 31650563
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 24259968 Associate
★☆☆☆☆
Found in Text Mining only
Conjunctivitis Conjunctivitis HPO_DG
★☆☆☆☆
Found in Text Mining only
Cutaneous Melanoma Melanoma HPO_DG
★☆☆☆☆
Found in Text Mining only