ERCC6L2 (ERCC excision repair 6 like 2)

2003-12-01  

Identity

HGNC
ERCC6L2
LOCATION
9q22.32
LOCUSID
375748
ALIAS
BMFS2,C9orf102,HEBO,RAD26L,SR278
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Protein levels (Protein atlas)

Not detected
Low
Medium
High
N/A

References

Pubmed IDYearTitleCitations
367904582023ERCC6L2-related disease: a novel entity of bone marrow failure disorder with high risk of clonal evolution.1
370147512023ERCC6L2 mitigates replication stress and promotes centromere stability.2
367904582023ERCC6L2-related disease: a novel entity of bone marrow failure disorder with high risk of clonal evolution.1
370147512023ERCC6L2 mitigates replication stress and promotes centromere stability.2
361562102022Germline ERCC excision repair 6 like 2 (ERCC6L2) mutations lead to impaired erythropoiesis and reshaping of the bone marrow microenvironment.3
361562102022Germline ERCC excision repair 6 like 2 (ERCC6L2) mutations lead to impaired erythropoiesis and reshaping of the bone marrow microenvironment.3
339606422021Microdeletion of 9q22.3: A patient with minimal deletion size associated with a severe phenotype.2
339606422021Microdeletion of 9q22.3: A patient with minimal deletion size associated with a severe phenotype.2
328461262020Functional Radiogenetic Profiling Implicates ERCC6L2 in Non-homologous End Joining.17
328461262020Functional Radiogenetic Profiling Implicates ERCC6L2 in Non-homologous End Joining.17
308792192019ERCC6L2 rs591486 polymorphism and risk for amyotrophic lateral sclerosis in Greek population.3
309360692019ERCC6L2 defines a novel entity within inherited acute myeloid leukemia.17
308792192019ERCC6L2 rs591486 polymorphism and risk for amyotrophic lateral sclerosis in Greek population.3
309360692019ERCC6L2 defines a novel entity within inherited acute myeloid leukemia.17
288155632018Bone 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/js/js/lib/jquery-3.5.1.min.js