MORC family CW-type zinc finger 2
Annotations refreshed 1 month ago.
Diagnostic Grade (Green)
Ataxia and cerebellar anomalies - narrow panel
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownDDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownHereditary neuropathy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownHereditary neuropathy or pain disorder
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownIntellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownSevere microcephaly
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownHereditary ataxia with onset in adulthood
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedMonogenic hearing loss
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown+2 more panels — install the extension to see the full list inline on any page.
Charcot-Marie-Tooth disease axonal type 2Z
developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy
Charcot-Marie-Tooth disease type 2
hereditary disease
neurodevelopmental disorder
neurodegenerative disease
Global developmental delay
Tip-toe gait
macular degeneration
Hypercholesterolemia
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
ATPase MORC2
ATP-dependent chromatin remodeler essential for epigenetic silencing by the HUSH (human silencing hub) complex (PubMed:28581500, PubMed:29440755, PubMed:32693025). Recruited by HUSH to target site in heterochromatin, the ATPase activity and homodimerization are critical for HUSH-mediated silencing (PubMed:28581500, PubMed:29440755, PubMed:32693025). Represses germ cell-related genes and L1 retrotransposons in collaboration with SETDB1 and the HUSH complex, the silencing is dependent of repressive epigenetic modifications, such as H3K9me3 mark. Silencing events often occur within introns of transcriptionally active genes, and lead to the down-regulation of host gene expression (PubMed:29211708). During DNA damage response, regulates chromatin remodeling through ATP hydrolysis. Upon DNA damage, is phosphorylated by PAK1, both colocalize to chromatin and induce H2AX expression. ATPase activity is required and dependent of phosphorylation by PAK1 and presence of DNA (PubMed:23260667). Recruits histone deacetylases, such as HDAC4, to promoter regions, causing local histone H3 deacetylation and transcriptional repression of genes such as CA9 (PubMed:20110259, PubMed:20225202). Exhibits a cytosolic function in lipogenesis, adipogenic differentiation, and lipid homeostasis by increasing the activity of ACLY, possibly preventing its dephosphorylation (PubMed:24286864). Together with MPHOSPH8, mediates silencing of protocadherin genes in the nervous system (By similarity)
MORC2 · Q9Y6X9
Mean pLDDT
77.6/ 100
Confident
1,032 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0
