ERCC6L2 (ERCC excision repair 6 like 2)

2003-12-01  

Identity

HGNC
LOCATION
9q22.32
LOCUSID
ALIAS
BMFS2,C9orf102,HEBO,RAD26L,SR278
FUSION GENES

Other Information

Locus ID:

NCBI: 375748
MIM: 615667
HGNC: 26922
Ensembl: ENSG00000182150

Variants:

dbSNP: 375748
ClinVar: 375748
TCGA: ENSG00000182150
COSMIC: ERCC6L2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000182150ENST00000320486H7BXQ9
ENSG00000182150ENST00000402838H0Y3T7
ENSG00000182150ENST00000426805X6RE28
ENSG00000182150ENST00000456993F2Z2R4
ENSG00000182150ENST00000479391S4R327
ENSG00000182150ENST00000653324A0A590UJK0
ENSG00000182150ENST00000653738A0A590UJ07
ENSG00000182150ENST00000659728A0A590UJV1
ENSG00000182150ENST00000661047A0A590UJ12
ENSG00000182150ENST00000665077Q5T890
ENSG00000182150ENST00000668220A0A590UJI9
ENSG00000182150ENST00000670016A0A590UJA1

Expression (GTEx)

0
1
2
3
4
5
6
7
8
9

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
245077762014ERCC6L2 mutations link a distinct bone-marrow-failure syndrome to DNA repair and mitochondrial function.0
271858552016A nonsense mutation in the DNA repair factor Hebo causes mild bone marrow failure and microcephaly.0
288155632018Bone marrow failure syndrome caused by homozygous frameshift mutation in the ERCC6L2 gene.0
296335712018ERCC6L2-associated inherited bone marrow failure syndrome.0
299870152018Genome instability is a consequence of transcription deficiency in patients with bone marrow failure harboring biallelic ERCC6L2 variants.0
308792192019ERCC6L2 rs591486 polymorphism and risk for amyotrophic lateral sclerosis in Greek population.0
309360692019ERCC6L2 defines a novel entity within inherited acute myeloid leukemia.0

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