NEIL3 (nei like DNA glycosylase 3)

Gene

• Entrez ID: 55247
• Gene name: Nei like DNA glycosylase 3
• Gene symbol: NEIL3
• Synonyms (NCBI Gene): FGP2, FPG2, NEI3, ZGRF3, hFPG2, hNEI3
• Chromosome: 4
• Chromosome location: 4q34.3
• Summary: NEIL3 belongs to a class of DNA glycosylases homologous to the bacterial Fpg/Nei family. These glycosylases initiate the first step in base excision repair by cleaving bases damaged by reactive oxygen species and introducing a DNA strand break via the ass

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT024831	hsa-miR-215-5p	Microarray	19074876
MIRT026184	hsa-miR-192-5p	Microarray	19074876

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000012	Process	Single strand break repair	IDA	19170771
GO:0000405	Function	Bubble DNA binding	IEA
GO:0000405	Function	Bubble DNA binding	ISS
GO:0003676	Function	Nucleic acid binding	IEA
GO:0003677	Function	DNA binding	IEA
GO:0003684	Function	Damaged DNA binding	IEA
GO:0003684	Function	Damaged DNA binding	ISS
GO:0003690	Function	Double-stranded DNA binding	IEA
GO:0003690	Function	Double-stranded DNA binding	ISS
GO:0003697	Function	Single-stranded DNA binding	IDA	19170771
GO:0003697	Function	Single-stranded DNA binding	IEA
GO:0003824	Function	Catalytic activity	IEA
GO:0003906	Function	DNA-(apurinic or apyrimidinic site) endonuclease activity	IBA
GO:0003906	Function	DNA-(apurinic or apyrimidinic site) endonuclease activity	IDA	19170771
GO:0003906	Function	DNA-(apurinic or apyrimidinic site) endonuclease activity	IEA
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	12433996
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005694	Component	Chromosome	IEA
GO:0006281	Process	DNA repair	IEA
GO:0006284	Process	Base-excision repair	IBA
GO:0006284	Process	Base-excision repair	IDA	23755964
GO:0006284	Process	Base-excision repair	IEA
GO:0006284	Process	Base-excision repair	ISS
GO:0006285	Process	Base-excision repair, AP site formation	TAS
GO:0006974	Process	DNA damage response	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0016798	Function	Hydrolase activity, acting on glycosyl bonds	IEA
GO:0016799	Function	Hydrolase activity, hydrolyzing N-glycosyl compounds	IEA
GO:0016829	Function	Lyase activity	IEA
GO:0019104	Function	DNA N-glycosylase activity	IBA
GO:0019104	Function	DNA N-glycosylase activity	IDA	23755964
GO:0019104	Function	DNA N-glycosylase activity	IEA
GO:0019104	Function	DNA N-glycosylase activity	ISS
GO:0019104	Function	DNA N-glycosylase activity	TAS
GO:0036297	Process	Interstrand cross-link repair	ISS
GO:0045007	Process	Depurination	TAS
GO:0046872	Function	Metal ion binding	IEA
GO:0140078	Function	Class I DNA-(apurinic or apyrimidinic site) endonuclease activity	IEA
GO:1904931	Function	MCM complex binding	ISS

Other IDs

• MIM: 608934
• HGNC: 24573
• e!Ensembl: ENSG00000109674

Protein

• UniProt ID: Q8TAT5
• Protein name: Endonuclease 8-like 3 (EC 3.2.2.-) (EC 4.2.99.18) (DNA glycosylase FPG2) (DNA glycosylase/AP lyase Neil3) (Endonuclease VIII-like 3) (Nei-like protein 3)
• Protein function: DNA glycosylase which prefers single-stranded DNA (ssDNA), or partially ssDNA structures such as bubble and fork structures, to double-stranded DNA (dsDNA) (PubMed:12433996, PubMed:19170771, PubMed:22569481, PubMed:23755964). Mediates interstran
• PDB: 7JL5, 7TMY
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF06831	H2TH	153 → 231	Formamidopyrimidine-DNA glycosylase H2TH domain	Domain
  PF00641	zf-RanBP	317 → 346	Zn-finger in Ran binding protein and others	Domain
  PF06839	zf-GRF	505 → 550	GRF zinc finger	Domain
  PF06839	zf-GRF	552 → 596	GRF zinc finger	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in keratinocytes and embryonic fibroblasts (at protein level). Also detected in thymus, testis and fetal lung primary fibroblasts. {ECO:0000269|PubMed:12433996, ECO:0000269|PubMed:16428305, ECO:0000269|PubMed:19426544, ECO:00
• Sequence:

  MVEGPGCTLNGEKIRARVLPGQAVTGVRGSALRSLQGRALRLAASTVVVSPQAAALNNDS
  SQNVLSLFNGYVYSGVETLGKELFMYFGPKALRIHFGMKGFIMINPLEYKYKNGASPVLE
  VQLTKDLICFFDSSVELRNSMESQQRIRMMKELDVCSPEFSFLRAESEVKKQKGRMLGDV
  LMDQNVLPGVGNIIKNEALFDSGLHPAVKVCQLTDEQIHHLMKMIRDFSILFYRCRKAGL
  ALSKHYKVYKRPNCGQCHCRITVCRFGDNNRMTYFCPHCQKENPQHVDICKLPTRNTIIS
  WTSSRVDHVMDSVARKSEEHWTCVVCTLINKPSSKACDACLTSRPIDSVLKSEENSTVFS
  HLMKYPCNTFGKPHTEVKINRKTAFGTTTLVLTDFSNKSSTLERKTKQNQILDEEFQNSP
  PASVCLNDIQHPSKKTTNDITQPSSKVNISPTISSESKLFSPAHKKPKTAQYSSPELKSC
  NPGYSNSELQINMTDGPRTLNPDSPRCSKHNRLCILRVVGKDGENKGRQFYACPLPREAQ
  CGFFEWADLSFPFCNHGKRSTMKTVLKIGPNNGKNFFVCPLGKEKQCNFFQWAENGPGIK
  IIPGC

• Sequence length: 605

Pathways

KEGG:

Base excision repair

Reactome:

Recognition and association of DNA glycosylase with site containing an affected purine
Cleavage of the damaged purine
Defective Base Excision Repair Associated with NEIL3
NEIL3-mediated resolution of ICLs

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
CARCINOMA, HEPATOCELLULAR	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Germ cell tumor of testis	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Low-frequency hearing loss	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Low-frequency sensorineural hearing impairment	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Astrocytoma	Astrocytoma	BEFREE	28378638		★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	Pubtator	28378638	Associate	★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia Telangiectasia	BEFREE	29348879		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	27760045, 27760052		★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	36233194	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	34045188, 34840632, 35030478, 37923899	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	32364878	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Basal Cell	Carcinoma	BEFREE	27797824		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	33725402	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	30591675	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	23392254	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	23392254		★☆☆☆☆ Found in Text Mining only
Differentiated Thyroid Gland Carcinoma	Thyroid Carcinoma	BEFREE	27062014		★☆☆☆☆ Found in Text Mining only
Disruptive Impulse Control and Conduct Disorders	Disruptive, impulse control, and conduct disorders	Pubtator	27167163	Associate	★☆☆☆☆ Found in Text Mining only
Fanconi Anemia	Fanconi Anemia	BEFREE	30842657		★☆☆☆☆ Found in Text Mining only
Fanconi Anemia	Fanconi anemia	Pubtator	36351389	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	24005813, 29348879		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	28378638	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	24005813, 29348879		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	32364878	Associate	★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	28052262	Associate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	CTD_human_DG	28284560		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	37072474	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	33921035	Stimulate	★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	27042257		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	25703835, 28052262		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	29348879		★☆☆☆☆ Found in Text Mining only
Nephritis	Nephritis	BEFREE	27760045, 27760052		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	32364878	Associate	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	32300177, 33115829, 33921035, 34769200, 35392496	Associate	★☆☆☆☆ Found in Text Mining only