• Gene id: 5423

Gene Summary

• Gene Symbol: POLB   Gene   UCSC   Ensembl
• Gene name: DNA polymerase beta
• Alternate names: DNA polymerase beta, DNA pol beta, DNA polymerase beta subunit, polymerase (DNA directed), beta, polymerase (DNA) beta,
• Gene location: 8p11.21 (42338451: 42371809)     Exons: 16     NC_000008.11
• Gene summary(Entrez): The protein encoded by this gene is a DNA polymerase involved in base excision and repair, also called gap-filling DNA synthesis. The encoded protein, acting as a monomer, is normally found in the cytoplasm, but it translocates to the nucleus upon DNA dam
• OMIM: 300452

SNPs

rs1048055

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000020.11   g.1629416A>C
NC_000020.10   g.1610062A>C
NM_018556.4   c.*223T>G
NM_018556.3   c.*223T>G
XM_005260749.4   c.*223T>G
XM_005260749.1   c.*223T>G
XM_011529286.2   c.*223T>G
NM_080816.2   c.*223T>G
NM_080816.3   c.*223T>G
NM_001039508.1   c.*223T>G|SEQ=[A/C]|

rs2281807

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000020.11   g.1629555C>T
NC_000020.10   g.1610201C>T
NM_018556.4   c.*84G>A
NM_018556.3   c.*84G>A
XM_005260749.4   c.*84G>A
XM_005260749.1   c.*84G>A
XM_011529286.2   c.*84G>A
NM_080816.2   c.*84G>A
NM_080816.3   c.*84G>A
NM_001039508.1   c.*84G>A|SEQ=[C/T]|GENE=SIR

Protein Summary

• Protein general information: P06746  
  • Name: DNA polymerase beta (EC 2.7.7.7) (EC 4.2.99. )
  • Length: 335  
  • Mass: 38178
• Sequence:

  MSKRKAPQETLNGGITDMLTELANFEKNVSQAIHKYNAYRKAASVIAKYPHKIKSGAEAKKLPGVGTKIAEKIDE
  FLATGKLRKLEKIRQDDTSSSINFLTRVSGIGPSAARKFVDEGIKTLEDLRKNEDKLNHHQRIGLKYFGDFEKRI
  PREEMLQMQDIVLNEVKKVDSEYIATVCGSFRRGAESSGDMDVLLTHPSFTSESTKQPKLLHQVVEQLQKVHFIT
  DTLSKGETKFMGVCQLPSKNDEKEYPHRRIDIRLIPKDQYYCGVLYFTGSDIFNKNMRAHALEKGFTINEYTIRP
  LGVTGVAGEPLPVDSEKDIFDYIQWKYREPKDRSE

• Structural information:
  • Interpro: IPR002054  IPR019843  IPR010996  IPR028207  IPR018944   IPR027421  IPR037160  IPR022312  IPR002008  IPR003583  IPR029398  
  • Prosite: PS00522
  • CDD: cd00141
  • PDB: 1BPX 1BPY 1BPZ 1MQ2 1MQ3 1TV9 1TVA 1ZJM 1ZJN 1ZQA 1ZQB 1ZQC 1ZQD 1ZQE 1ZQF 1ZQG 1ZQH 1ZQI 1ZQJ 1ZQK 1ZQL 1ZQM 1ZQN 1ZQO 1ZQP 1ZQQ 1ZQR 1ZQS 1ZQT 2FMP 2FMQ 2FMS 2I9G 2ISO 2ISP 2P66 2PXI 3C2K 3C2L 3C2M 3GDX 3ISB 3ISC 3ISD 3JPN 3JPO 3JPP 3JPQ 3JPR 3JPS 3JPT 3LK9 3MBY 3OGU 3RH4 3RH5 3RH6 3RJE 3RJF 3RJG 3RJH 3RJI 3RJJ 3RJ
  • PDBsum: 1BPX 1BPY 1BPZ 1MQ2 1MQ3 1TV9 1TVA 1ZJM 1ZJN 1ZQA 1ZQB 1ZQC 1ZQD 1ZQE 1ZQF 1ZQG 1ZQH 1ZQI 1ZQJ 1ZQK 1ZQL 1ZQM 1ZQN 1ZQO 1ZQP 1ZQQ 1ZQR 1ZQS 1ZQT 2FMP 2FMQ 2FMS 2I9G 2ISO 2ISP 2P66 2PXI 3C2K 3C2L 3C2M 3GDX 3ISB 3ISC 3ISD 3JPN 3JPO 3JPP 3JPQ 3JPR 3JPS 3JPT 3LK9 3MBY 3OGU 3RH4 3RH5 3RH6 3RJE 3RJF 3RJG 3RJH 3RJI 3RJJ 3RJ
  • STRING: ENSP00000265421
• Other Databases: GeneCards:  POLB  Malacards:  POLB

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006303	double-strand break repair via nonhomologous end joining	IBA	biological process
GO:0006284	base-excision repair	IBA	biological process
GO:0005634	nucleus	IBA	cellular component
GO:0003887	DNA-directed DNA polymerase activity	IBA	molecular function
GO:0016829	lyase activity	IDA	molecular function
GO:0006284	base-excision repair	IDA	biological process
GO:0005737	cytoplasm	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0003887	DNA-directed DNA polymerase activity	IDA	molecular function
GO:0003887	DNA-directed DNA polymerase activity	IDA	molecular function
GO:0006284	base-excision repair	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0019899	enzyme binding	IPI	molecular function
GO:0019899	enzyme binding	IPI	molecular function
GO:0019899	enzyme binding	IPI	molecular function
GO:0006974	cellular response to DNA damage stimulus	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0006281	DNA repair	IEA	biological process
GO:0016779	nucleotidyltransferase activity	IEA	molecular function
GO:0034061	DNA polymerase activity	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0003887	DNA-directed DNA polymerase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0016829	lyase activity	IEA	molecular function
GO:0016779	nucleotidyltransferase activity	IEA	molecular function
GO:0006260	DNA replication	IEA	biological process
GO:0006281	DNA repair	IEA	biological process
GO:0071897	DNA biosynthetic process	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0003887	DNA-directed DNA polymerase activity	IEA	molecular function
GO:0006974	cellular response to DNA damage stimulus	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0003887	DNA-directed DNA polymerase activity	TAS	molecular function
GO:0006261	DNA-dependent DNA replication	TAS	biological process
GO:0006281	DNA repair	TAS	biological process
GO:0003887	DNA-directed DNA polymerase activity	IEA	molecular function
GO:0032991	protein-containing complex	IDA	cellular component
GO:0008017	microtubule binding	IDA	molecular function
GO:0005876	spindle microtubule	IDA	cellular component
GO:0005874	microtubule	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0003887	DNA-directed DNA polymerase activity	TAS	molecular function
GO:0003887	DNA-directed DNA polymerase activity	TAS	molecular function
GO:0003887	DNA-directed DNA polymerase activity	TAS	molecular function
GO:0003906	DNA-(apurinic or apyrimidinic site) endonuclease activity	TAS	molecular function
GO:0003906	DNA-(apurinic or apyrimidinic site) endonuclease activity	TAS	molecular function
GO:0006288	base-excision repair, DNA ligation	TAS	biological process
GO:0016579	protein deubiquitination	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0006286	base-excision repair, base-free sugar-phosphate removal	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0006287	base-excision repair, gap-filling	IEA	biological process
GO:0016445	somatic diversification of immunoglobulins	IEA	biological process
GO:0016446	somatic hypermutation of immunoglobulin genes	IEA	biological process
GO:0051402	neuron apoptotic process	IEA	biological process
GO:0071707	immunoglobulin heavy chain V-D-J recombination	IEA	biological process
GO:0006287	base-excision repair, gap-filling	IEA	biological process
GO:0007568	aging	IEA	biological process
GO:0010332	response to gamma radiation	IEA	biological process
GO:0045471	response to ethanol	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0001701	in utero embryonic development	IEA	biological process
GO:0006915	apoptotic process	IEA	biological process
GO:0006954	inflammatory response	IEA	biological process
GO:0007435	salivary gland morphogenesis	IEA	biological process
GO:0008630	intrinsic apoptotic signaling pathway in response to DNA damage	IEA	biological process
GO:0048535	lymph node development	IEA	biological process
GO:0048536	spleen development	IEA	biological process
GO:0048872	homeostasis of number of cells	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0003684	damaged DNA binding	IEA	molecular function
GO:0003887	DNA-directed DNA polymerase activity	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0006290	pyrimidine dimer repair	IEA	biological process
GO:0055093	response to hyperoxia	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0006297	nucleotide-excision repair, DNA gap filling	IMP	NOT|biological process

KEGG pathways

Pathway id	Pathway name
hsa05166	Human T-cell leukemia virus 1 infection
hsa05203	Viral carcinogenesis
hsa03410	Base excision repair

Diseases

Associated diseases	References
pancreatic cancer	PMID:17230526
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq