ERCC6L2 Gene
ERCC Excision Repair 6 Like 2
Gene Information Card
| Symbol | ERCC6L2 |
|---|---|
| Full Name | ERCC Excision Repair 6 Like 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 9q22.32 |
| NCBI Gene ID | 375748 ncbi.nlm.nih.gov/gene/375748 |
| Ensembl ID | ENSG00000182154 |
| UniProt ID | Q5T890 |
| OMIM ID | 615667 |
| HGNC ID | 26956 |
| Aliases | FLJ38668, MGC16384, SRRT2 |
Description
ERCC6L2 encodes a protein involved in DNA repair, particularly in the interstrand crosslink repair pathway. Mutations in this gene are associated with bone marrow failure syndrome and predisposition to myelodysplastic syndrome.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Bone marrow failure syndrome 2 | Defective DNA repair leads to hematopoietic stem cell dysfunction | OMIM #615715 |
| Myelodysplastic syndrome | Impaired genome stability due to ERCC6L2 loss | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone marrow | 12.5 | Medium |
| Testis | 8.3 | Low |
| Spleen | 6.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K562 | 15.2 | High expression |
| HEK293 | 9.8 | Moderate expression |
| HeLa | 7.4 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1090C>T (p.Arg364*) | Nonsense | Rare | Loss of function |
| c.1522delG (p.Glu508fs) | Frameshift | Rare | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Most reported mutations are loss-of-function, impairing DNA repair.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • DNA repair | • interstrand crosslink repair |
| • nucleotide-excision repair |
Pathways
• Fanconi anemia pathway
• DNA damage response
Protein Summary
ERCC6L2 is a nuclear protein that participates in the repair of DNA interstrand crosslinks, crucial for maintaining genomic stability in hematopoietic cells.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ERCC6L2 Knockout HEK293 Cell Line | EDJ-KQ13313 | Human | 375748 | Details Get a Quote |
| ERCC6L2 Knockout A-549 Cell Line | EDJ-KQ42774 | Human | 375748 | Details Get a Quote |
| ERCC6L2 Knockout HCT 116 Cell Line | EDJ-KQ42775 | Human | 375748 | Details Get a Quote |
| ERCC6L2 Knockout HeLa Cell Line | EDJ-KQ42776 | Human | 375748 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
