• Gene id: 11232

Gene Summary

• Gene Symbol: POLG2   Gene   UCSC   Ensembl
• Aliases: HP55, MTDPS16, MTPOLB, PEOA4, POLB, POLG-BETA, POLGB
• Gene name: DNA polymerase gamma 2, accessory subunit
• Alternate names: DNA polymerase subunit gamma-2, mitochondrial, DNA polymerase gamma accessory 55 kDa subunit, mitochondrial DNA polymerase subunit gamma-2, mitochondrial DNA polymerase, accessory subunit, p55, polymerase (DNA directed), gamma 2, accessory subunit, polymerase (,
• Gene location: 17q23.3 (213015874: 212992181)     Exons: 11     NC_000001.11
• Gene summary(Entrez): This gene encodes the processivity subunit of the mitochondrial DNA polymerase gamma. The encoded protein forms a heterotrimer containing one catalytic subunit and two processivity subunits. This protein enhances DNA binding and promotes processive DNA sy
• OMIM: 604983

Protein Summary

• Protein general information: Q9UHN1  
  • Name: DNA polymerase subunit gamma 2, mitochondrial (DNA polymerase gamma accessory 55 kDa subunit) (p55) (Mitochondrial DNA polymerase accessory subunit) (MtPolB) (PolG beta)
  • Length: 485  
  • Mass: 54911
• Sequence:

  MRSRVAVRACHKVCRCLLSGFGGRVDAGQPELLTERSSPKGGHVKSHAELEGNGEHPEAPGSGEGSEALLEICQR
  RHFLSGSKQQLSRDSLLSGCHPGFGPLGVELRKNLAAEWWTSVVVFREQVFPVDALHHKPGPLLPGDSAFRLVSA
  ETLREILQDKELSKEQLVAFLENVLKTSGKLRENLLHGALEHYVNCLDLVNKRLPYGLAQIGVCFHPVFDTKQIR
  NGVKSIGEKTEASLVWFTPPRTSNQWLDFWLRHRLQWWRKFAMSPSNFSSSDCQDEEGRKGNKLYYNFPWGKELI
  ETLWNLGDHELLHMYPGNVSKLHGRDGRKNVVPCVLSVNGDLDRGMLAYLYDSFQLTENSFTRKKNLHRKVLKLH
  PCLAPIKVALDVGRGPTLELRQVCQGLFNELLENGISVWPGYLETMQSSLEQLYSKYDEMSILFTVLVTETTLEN
  GLIHLRSRDTTMKEMMHISKLKDFLIKYISSAKNV

• Structural information:
  • Interpro: IPR004154  IPR036621  IPR027031  IPR027030  IPR042064  
  • CDD: cd02426
  • PDB: 2G4C 3IKL 3IKM 4ZTU 4ZTZ 5C51 5C52 5C53
  • PDBsum: 2G4C 3IKL 3IKM 4ZTU 4ZTZ 5C51 5C52 5C53
  • STRING: ENSP00000442563
• Other Databases: GeneCards:  POLG2  Malacards:  POLG2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005737	cytoplasm	IBA	cellular component
GO:0005739	mitochondrion	IBA	cellular component
GO:0006264	mitochondrial DNA replication	IBA	biological process
GO:0006260	DNA replication	IEA	biological process
GO:0006281	DNA repair	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0006260	DNA replication	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0030337	DNA polymerase processivity factor activity	IDA	molecular function
GO:0003690	double-stranded DNA binding	IDA	molecular function
GO:0030337	DNA polymerase processivity factor activity	IDA	molecular function
GO:0030337	DNA polymerase processivity factor activity	IDA	molecular function
GO:1900264	positive regulation of DNA-directed DNA polymerase activity	IDA	biological process
GO:0005760	gamma DNA polymerase complex	IDA	cellular component
GO:0042645	mitochondrial nucleoid	IDA	cellular component
GO:1900264	positive regulation of DNA-directed DNA polymerase activity	IDA	biological process
GO:0005760	gamma DNA polymerase complex	IDA	cellular component
GO:0005760	gamma DNA polymerase complex	IDA	cellular component
GO:0005760	gamma DNA polymerase complex	IDA	cellular component
GO:1900264	positive regulation of DNA-directed DNA polymerase activity	IDA	biological process
GO:0006261	DNA-dependent DNA replication	IDA	biological process
GO:0006261	DNA-dependent DNA replication	IDA	biological process
GO:0006264	mitochondrial DNA replication	IC	biological process
GO:0006261	DNA-dependent DNA replication	IDA	biological process
GO:0006261	DNA-dependent DNA replication	IDA	biological process
GO:0006261	DNA-dependent DNA replication	IDA	biological process
GO:0006261	DNA-dependent DNA replication	IDA	biological process
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0007005	mitochondrion organization	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:0070584	mitochondrion morphogenesis	IEA	biological process
GO:0032042	mitochondrial DNA metabolic process	IEA	biological process
GO:0042802	identical protein binding	IEA	molecular function
GO:0022904	respiratory electron transport chain	IEA	biological process
GO:0003887	DNA-directed DNA polymerase activity	IEA	molecular function
GO:0001701	in utero embryonic development	IEA	biological process
GO:0042645	mitochondrial nucleoid	IDA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0071897	DNA biosynthetic process	IEA	biological process
GO:1900264	positive regulation of DNA-directed DNA polymerase activity	IDA	biological process
GO:0006261	DNA-dependent DNA replication	IDA	biological process
GO:0005760	gamma DNA polymerase complex	IDA	cellular component
GO:0030337	DNA polymerase processivity factor activity	IDA	molecular function
GO:0003690	double-stranded DNA binding	IDA	molecular function
GO:0005760	gamma DNA polymerase complex	IDA	cellular component
GO:0070182	DNA polymerase binding	IPI	molecular function

Diseases

Associated diseases	References
Progressive external ophthalmoplegia	KEGG:H01118
Progressive external ophthalmoplegia	KEGG:H01118
Cryptorchidism	MIK: 28606200
Hypospermatogenesis	MIK: 28361989
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray