Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
11201
|
Gene name
Gene Name - the full gene name approved by the HGNC.
|
DNA polymerase iota |
Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
|
POLI |
Synonyms (NCBI Gene)
Gene synonyms aliases
|
RAD30B, RAD3OB, eta2 |
Chromosome
Chromosome number
|
18 |
Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
18q21.2 |
Summary
Summary of gene provided in NCBI Entrez Gene.
|
The protein encoded by this gene is an error-prone DNA polymerase involved in DNA repair. The encoded protein promotes DNA synthesis across lesions in the template DNA, which other polymerases cannot do. The encoded polymerase inserts deoxynucleotides acr |
UniProt ID |
Q9UNA4
|
Protein name |
DNA polymerase iota (EC 2.7.7.7) (Eta2) (RAD30 homolog B) |
Protein function |
Error-prone DNA polymerase specifically involved in DNA repair (PubMed:11013228, PubMed:11387224). Plays an important role in translesion synthesis, where the normal high-fidelity DNA polymerases cannot proceed and DNA synthesis stalls (PubMed:1 |
PDB |
1T3N
,
1ZET
,
2ALZ
,
2DPI
,
2DPJ
,
2FLL
,
2FLN
,
2FLP
,
2KHU
,
2KHW
,
2KTF
,
2L0F
,
2L0G
,
2MBB
,
3EPG
,
3EPI
,
3G6V
,
3G6X
,
3G6Y
,
3GV5
,
3GV7
,
3GV8
,
3H40
,
3H4B
,
3H4D
,
3NGD
,
3OSN
,
3Q8P
,
3Q8Q
,
3Q8R
,
3Q8S
,
4EBC
,
4EBD
,
4EBE
,
4EYH
,
4EYI
,
4FS1
,
4FS2
,
5KT2
,
5KT3
,
5KT4
,
5KT5
,
5KT6
,
5KT7
,
5ULW
,
5ULX
|
Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF00817
|
IMS |
58 → 236 |
impB/mucB/samB family |
Family |
PF11799
|
IMS_C |
320 → 446 |
impB/mucB/samB family C-terminal domain |
Domain |
|
Tissue specificity |
TISSUE SPECIFICITY: Ubiquitous. Highly expressed in testis. {ECO:0000269|PubMed:10458907, ECO:0000269|PubMed:11387224}. |
Sequence |
|
Sequence length |
740 |
Interactions |
View interactions
|
|
Unknown |
Disease term |
Disease name |
Evidence |
References |
Source |
Asthma |
Asthma, Childhood asthma |
|
30929738 |
ClinVar, GWAS |
Eczema |
Eczema |
|
|
GWAS |
Prostate cancer |
Prostate cancer |
Together, these results show that PRRX2 is an oncogene and might play a role in the aggressiveness of PC within the DNPC population. |
|
GWAS, CBGDA |
Oligodendroglioma |
Oligodendroglioma |
|
|
GWAS |
|
Associations from Text Mining |
Disease Name |
Relationship Type |
References |
Adenocarcinoma of Lung |
Associate
|
37079368 |
Breast Neoplasms |
Associate
|
27485818, 30829610 |
Carcinogenesis |
Associate
|
36526675 |
Clear cell metastatic renal cell carcinoma |
Associate
|
39237917 |
Developmental Disabilities |
Associate
|
34887565 |
Esophageal Neoplasms |
Associate
|
22509890, 26097541 |
Esophageal Squamous Cell Carcinoma |
Associate
|
22509890, 28905458 |
Fanconi Anemia |
Associate
|
33376220 |
Glioblastoma |
Associate
|
17499043 |
Leiomyosarcoma |
Associate
|
35201535 |
Neoplasm Metastasis |
Associate
|
28905458 |
Neoplasms |
Associate
|
22509890, 24113281, 25277384, 29669917, 31382053, 34887565, 35201535, 35955705, 36526675, 37167337, 39237917 |
Neoplasms Squamous Cell |
Associate
|
26097541 |
Neurodegenerative Diseases |
Associate
|
28777933 |
Oligospermia |
Associate
|
31002754 |
Pancreatic Neoplasms |
Associate
|
35955705 |
Urinary Bladder Neoplasms |
Associate
|
23922701 |
|