POLN (DNA polymerase nu)

Gene

• Entrez ID: 353497
• Gene name: DNA polymerase nu
• Gene symbol: POLN
• Synonyms (NCBI Gene): POL4P
• Chromosome: 4
• Chromosome location: 4p16.3
• Summary: This gene encodes a DNA polymerase type-A family member. The encoded protein plays a role in DNA repair and homologous recombination. This gene shares its 5` exons with some transcripts from overlapping GeneID: 79441, which encodes an augmentin-like prote

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT017653	hsa-miR-335-5p	Microarray	18185580
MIRT1248072	hsa-miR-1208	CLIP-seq
MIRT1248073	hsa-miR-2117	CLIP-seq
MIRT1248074	hsa-miR-3156-3p	CLIP-seq
MIRT1248075	hsa-miR-4277	CLIP-seq
MIRT1248076	hsa-miR-4279	CLIP-seq
MIRT1248077	hsa-miR-4301	CLIP-seq
MIRT1248078	hsa-miR-4768-5p	CLIP-seq
MIRT1248079	hsa-miR-532-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000724	Process	Double-strand break repair via homologous recombination	IMP	19995904
GO:0000731	Process	DNA synthesis involved in DNA repair	IEA
GO:0003676	Function	Nucleic acid binding	IEA
GO:0003677	Function	DNA binding	IEA
GO:0003887	Function	DNA-directed DNA polymerase activity	IBA
GO:0003887	Function	DNA-directed DNA polymerase activity	IDA	12794064, 17118716, 19908865
GO:0003887	Function	DNA-directed DNA polymerase activity	IEA
GO:0003887	Function	DNA-directed DNA polymerase activity	TAS
GO:0005515	Function	Protein binding	IPI	19995904
GO:0005634	Component	Nucleus	IDA	12794064
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005730	Component	Nucleolus	IDA	12794064
GO:0006260	Process	DNA replication	IEA
GO:0006261	Process	DNA-templated DNA replication	IEA
GO:0006281	Process	DNA repair	IEA
GO:0006302	Process	Double-strand break repair	IBA
GO:0006974	Process	DNA damage response	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0016779	Function	Nucleotidyltransferase activity	IEA
GO:0019985	Process	Translesion synthesis	IDA	20102227
GO:0019985	Process	Translesion synthesis	IMP	19908865
GO:0030332	Function	Cyclin binding	IPI	19995904
GO:0034061	Function	DNA polymerase activity	IEA
GO:0036297	Process	Interstrand cross-link repair	IMP	19908865, 19995904
GO:0036297	Process	Interstrand cross-link repair	TAS

Other IDs

• MIM: 610887
• HGNC: 18870
• e!Ensembl: ENSG00000130997

Protein

• UniProt ID: Q7Z5Q5
• Protein name: DNA polymerase nu (EC 2.7.7.7)
• Protein function: DNA polymerase with very low fidelity that catalyzes considerable misincorporation by inserting dTTP opposite a G template, and dGTP opposite a T template (PubMed:16787914, PubMed:17118716). Is the least accurate of the DNA polymerase A family (
• PDB: 4XVI, 4XVK, 4XVL, 4XVM
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF18049	DNA_pol_P_Exo	198 → 416	DNA polymerase nu pseudo-exo	Domain
  PF00476	DNA_pol_A	447 → 854	DNA polymerase family A	Family

• Tissue specificity: TISSUE SPECIFICITY: Highly expressed in testis and heart. Weakly expressed in skeletal muscle. {ECO:0000269|PubMed:12794064}.
• Sequence:

  MENYEALVGFDLCNTPLSSVAQKIMSAMHSGDLVDSKTWGKSTETMEVINKSSVKYSVQL
  EDRKTQSPEKKDLKSLRSQTSRGSAKLSPQSFSVRLTDQLSADQKQKSISSLTLSSCLIP
  QYNQEASVLQKKGHKRKHFLMENINNENKGSINLKRKHITYNNLSEKTSKQMALEEDTDD
  AEGYLNSGNSGALKKHFCDIRHLDDWAKSQLIEMLKQAAALVITVMYTDGSTQLGADQTP
  VSSVRGIVVLVKRQAEGGHGCPDAPACGPVLEGFVSDDPCIYIQIEHSAIWDQEQEAHQQ
  FARNVLFQTMKCKCPVICFNAKDFVRIVLQFFGNDGSWKHVADFIGLDPRIAAWLIDPSD
  ATPSFEDLVEKYCEKSITVKVNSTYGNSSRNIVNQNVRENLKTLYRLTMDLCSKLKDYGL
  WQLFRTLELPLIPILAVMESHAIQVNKEEMEKTSALLGARLKELEQEAHFVAGERFLITS
  NNQLREILFGKLKLHLLSQRNSLPRTGLQKYPSTSEAVLNALRDLHPLPKIILEYRQVHK
  IKSTFVDGLLACMKKGSISSTWNQTGTVTGRLSAKHPNIQGISKHPIQITTPKNFKGKED
  KILTISPRAMFVSSKGHTFLAADFSQIELRILTHLSGDPELLKLFQESERDDVFSTLTSQ
  WKDVPVEQVTHADREQTKKVVYAVVYGAGKERLAACLGVPIQEAAQFLESFLQKYKKIKD
  FARAAIAQCHQTGCVVSIMGRRRPLPRIHAHDQQLRAQAERQAVNFVVQGSAADLCKLAM
  IHVFTAVAASHTLTARLVAQIHDELLFEVEDPQIPECAALVRRTMESLEQVQALELQLQV
  PLKVSLSAGRSWGHLVPLQEAWGPPPGPCRTESPSNSLAAPGSPASTQPPPLHFSPSFCL
  

• Sequence length: 900

Pathways

KEGG:

Fanconi anemia pathway

Reactome:

Fanconi Anemia Pathway

Associated diseases

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)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostate cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Lung Neoplasms	Lung neoplasms	Pubtator	22382497	Associate	★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	21671477		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	21671477	Stimulate	★☆☆☆☆ Found in Text Mining only
Melanoma Cutaneous Malignant	Melanoma	Pubtator	21671477	Associate	★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	36116213	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	35238112	Associate	★☆☆☆☆ Found in Text Mining only