Gene Gene information from NCBI Gene database.
Entrez ID 252969
Gene name Nei like DNA glycosylase 2
Gene symbol NEIL2
Synonyms (NCBI Gene)
NEH2NEI2
Chromosome 8
Chromosome location 8p23.1
Summary This gene encodes a member of the Fpg/Nei family of DNA glycosylases. These glycosylases initiate the first step in base excision repair by cleaving oxidatively damaged bases and introducing a DNA strand break via their abasic site lyase activity. This en
miRNA miRNA information provided by mirtarbase database.
231
miRTarBase ID miRNA Experiments Reference
MIRT041564 hsa-miR-193b-3p CLASH 23622248
MIRT496470 hsa-miR-3160-5p PAR-CLIP 22291592
MIRT496470 hsa-miR-3160-5p PAR-CLIP 22291592
MIRT1180033 hsa-miR-193a-3p CLIP-seq
MIRT1180034 hsa-miR-193b CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
27
GO ID Ontology Definition Evidence Reference
GO:0003676 Function Nucleic acid binding IEA
GO:0003677 Function DNA binding IEA
GO:0003684 Function Damaged DNA binding IEA
GO:0003824 Function Catalytic activity IEA
GO:0003906 Function DNA-(apurinic or apyrimidinic site) endonuclease activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
608933 18956 ENSG00000154328
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q969S2
Protein name Endonuclease 8-like 2 (EC 3.2.2.-) (EC 4.2.99.18) (DNA glycosylase/AP lyase Neil2) (DNA-(apurinic or apyrimidinic site) lyase Neil2) (Endonuclease VIII-like 2) (Nei homolog 2) (NEH2) (Nei-like protein 2)
Protein function Involved in base excision repair of DNA damaged by oxidation or by mutagenic agents. Has DNA glycosylase activity towards 5-hydroxyuracil and other oxidized derivatives of cytosine with a preference for mismatched double-stranded DNA (DNA bubble
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF06831 H2TH 193 275 Formamidopyrimidine-DNA glycosylase H2TH domain Domain
Tissue specificity TISSUE SPECIFICITY: Detected in testis, skeletal muscle, heart, brain, placenta, lung, pancreas, kidney and liver. {ECO:0000269|PubMed:12097317}.
Sequence
MPEGPLVRKFHHLVSPFVGQQVVKTGGSSKKLQPASLQSLWLQDTQVHGKKLFLRFDLDE
EMGPPGSSPTPEPPQKEVQKEGAADPKQVGEPSGQKTLDGSSRSAELVPQGEDDSEYLER
DAPAGDAGRWLRVSFGLFGSVWVNDFSRAKKANKRGDWRDPSPRLVLHFGGGGFLAFYNC
QLSWSSSPVVTPTCDILSEKFHRGQALEALGQAQPVCYTLLDQRYFSGLGNIIKNEALYR
AGIHPLSLGSVLSASRREVLVDHVVEFSTAWLQGK
FQGRPQHTQVYQKEQCPAGHQVMKE
AFGPEDGLQRLTWWCPQCQPQLSEEPEQCQFS
Sequence length 332
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Base excision repair   Recognition and association of DNA glycosylase with site containing an affected pyrimidine
Cleavage of the damaged pyrimidine
APEX1-Independent Resolution of AP Sites via the Single Nucleotide Replacement Pathway
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
8
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 ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Cervical cancer Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
FRONTOTEMPORAL DEMENTIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
High myopia Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
OCULAR SARCOIDOSIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Breast Carcinoma Breast Carcinoma BEFREE 24698998
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 24698998, 31904337 Associate
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 18594018, 32198476 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma of lung Lung carcinoma BEFREE 22497777, 24595271
★☆☆☆☆
Found in Text Mining only
Cardiac defects Cardiac Defects BEFREE 23696316
★☆☆☆☆
Found in Text Mining only
Cockayne Syndrome Cockayne syndrome Pubtator 24406253 Associate
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal Neoplasms LHGDN 17029639
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 17029639, 32312920 Associate
★☆☆☆☆
Found in Text Mining only
Congenital diaphragmatic hernia Congenital diaphragmatic hernia BEFREE 23696316
★☆☆☆☆
Found in Text Mining only
Hepatitis C Hepatitis c Pubtator 20074151 Associate
★☆☆☆☆
Found in Text Mining only