AlphaFold predicted structure
ERCC6L2 · Q5T890
Mean pLDDT
57.8/ 100
Low
1,550 residues
Confidence breakdown
- Very high(≥ 90)10%
- Confident(70–90)36%
- Low(50–70)9%
- Very low(< 50)46%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
ERCC6L2
Chr 9q22.32ERCC excision repair 6 like 2
- Aliases:
- FLJ37706, RAD26L, HEBO
- MANE:
- ENST00000653738.2
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
COVID-19 research
BIALLELIC, autosomal or pseudoautosomalCytopenia - NOT Fanconi anaemia
BIALLELIC, autosomal or pseudoautosomalCytopenias and congenital anaemias
BIALLELIC, autosomal or pseudoautosomalDDG2P
BIALLELIC, autosomal or pseudoautosomalHaematological malignancies cancer susceptibility
BIALLELIC, autosomal or pseudoautosomalIntellectual disability
BIALLELIC, autosomal or pseudoautosomalPrimary immunodeficiency or monogenic inflammatory bowel disease
BIALLELIC, autosomal or pseudoautosomalFetal anomalies
BIALLELIC, autosomal or pseudoautosomal
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Disease associations (Open Targets)
pancytopenia-developmental delay syndrome
0.77bone marrow failure syndrome
0.37neurodegenerative disease
0.37inherited acute myeloid leukemia
0.37Abnormality of the skeletal system
0.36Bone marrow hypocellularity
0.35hereditary neoplastic syndrome
0.34Inherited cancer-predisposing syndrome
0.34hypothyroidism
0.30colorectal carcinoma
0.29
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
DNA excision repair protein ERCC-6-like 2
Promotes double-strand break (DSB) end-joining and facilitates programmed recombination by controlling how DNA ends are joined in a spatially oriented manner during repair (By similarity). Also plays a role in DNA repair by restricting DNA end resection in double strand break (DSB) repair (PubMed:24507776, PubMed:37014751). Facilitates replication of complex DNA regions and regulates the maintenance of chromatin structure (PubMed:37014751)
Diseases associated with ERCC6L2
Curated MONDO disease pages that list ERCC6L2 among their top associated genes.