Entrez 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. [provided by RefSeq, Apr 2014].
UniProt Summary: May be involved in early DNA damage response. {ECO:0000269|PubMed:24507776}.
Pfam DomainsGO Terms
Pfam Domains
DEAD
HDA2-3
Helicase C
SNF2 N
GO Terms
helicase activity
interstrand cross-link repair
cellular response to reactive oxygen species
response to reactive oxygen species
cellular response to oxidative stress
response to oxidative stress
protein kinase binding
centrosome
DNA repair
protein-containing complex
DNA metabolic process
cellular response to DNA damage stimulus
cellular response to oxygen-containing compound
mitochondrion
DNA binding
ATP binding
response to oxygen-containing compound
cellular response to stress
CRISPR Data
Compound HitMost Correlated Genes in ChemogenomicsTissues where Essential in the Avana Dataset (DepMap 20Q1)