Identity
HGNC
LOCATION
9q22.32
LOCUSID
ALIAS
BMFS2,C9orf102,HEBO,RAD26L,SR278
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 375748
MIM: 615667
HGNC: 26922
Ensembl: ENSG00000182150
Variants:
dbSNP: 375748
ClinVar: 375748
TCGA: ENSG00000182150
COSMIC: ERCC6L2
RNA/Proteins
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36790458 | 2023 | ERCC6L2-related disease: a novel entity of bone marrow failure disorder with high risk of clonal evolution. | 1 |
| 37014751 | 2023 | ERCC6L2 mitigates replication stress and promotes centromere stability. | 2 |
| 36790458 | 2023 | ERCC6L2-related disease: a novel entity of bone marrow failure disorder with high risk of clonal evolution. | 1 |
| 37014751 | 2023 | ERCC6L2 mitigates replication stress and promotes centromere stability. | 2 |
| 36156210 | 2022 | Germline ERCC excision repair 6 like 2 (ERCC6L2) mutations lead to impaired erythropoiesis and reshaping of the bone marrow microenvironment. | 3 |
| 36156210 | 2022 | Germline ERCC excision repair 6 like 2 (ERCC6L2) mutations lead to impaired erythropoiesis and reshaping of the bone marrow microenvironment. | 3 |
| 33960642 | 2021 | Microdeletion of 9q22.3: A patient with minimal deletion size associated with a severe phenotype. | 2 |
| 33960642 | 2021 | Microdeletion of 9q22.3: A patient with minimal deletion size associated with a severe phenotype. | 2 |
| 32846126 | 2020 | Functional Radiogenetic Profiling Implicates ERCC6L2 in Non-homologous End Joining. | 17 |
| 32846126 | 2020 | Functional Radiogenetic Profiling Implicates ERCC6L2 in Non-homologous End Joining. | 17 |
| 30879219 | 2019 | ERCC6L2 rs591486 polymorphism and risk for amyotrophic lateral sclerosis in Greek population. | 3 |
| 30936069 | 2019 | ERCC6L2 defines a novel entity within inherited acute myeloid leukemia. | 17 |
| 30879219 | 2019 | ERCC6L2 rs591486 polymorphism and risk for amyotrophic lateral sclerosis in Greek population. | 3 |
| 30936069 | 2019 | ERCC6L2 defines a novel entity within inherited acute myeloid leukemia. | 17 |
| 28815563 | 2018 | Bone marrow failure syndrome caused by homozygous frameshift mutation in the ERCC6L2 gene. | 10 |
Citation
Dessen P
ERCC6L2 (ERCC excision repair 6 like 2)
Atlas Genet Cytogenet Oncol Haematol. 2003-12-01
Online version: http://atlasgeneticsoncology.org/gene/41176/ercc6l2
