Gene: ERCC6L2

Alternate names for this Gene: BMFS2|C9orf102|HEBO|RAD26L|SR278

Gene Summary: This gene encodes a member of the Snf2 family of helicase-like proteins. The encoded protein may play a role in DNA repair and mitochondrial function. Mutations in this gene have been associated with bone marrow failure syndrome 2. Alternatively spliced transcript variants that encode different protein isoforms have been described.

Gene is located in Chromosome: 9

Location in Chromosome : 9q22.32

Description of this Gene: ERCC excision repair 6 like 2

Type of Gene: protein-coding

rs689860 in ERCC6L2 gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs10819861 in ERCC6L2 gene and QT interval feature (observable entity) PMID 25055868 2014 Genome-wide association study of electrocardiographic parameters identifies a new association for PR interval and confirms previously reported associations.