lysine demethylase 5C
Annotations refreshed 1 month ago.
Diagnostic Grade (Green)
Childhood onset hereditary spastic paraplegia
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)DDG2P
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesFetal anomalies
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)Hereditary spastic paraplegia
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)Intellectual disability
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)Adult onset hereditary spastic paraplegia
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)Adult onset neurodegenerative disorder
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)syndromic X-linked intellectual disability Claes-Jensen type
Syndromic X-linked intellectual disability due to JARID1C mutation
clear cell renal carcinoma
Spastic paraplegia
hereditary disease
Intellectual disability
renal cell carcinoma
X-linked syndromic intellectual disability
X-linked non-syndromic intellectual disability
endometrial endometrioid adenocarcinoma
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Lysine-specific demethylase 5C
Histone demethylase that specifically demethylates 'Lys-4' of histone H3, thereby playing a central role in histone code (PubMed:28262558). Does not demethylate histone H3 'Lys-9', H3 'Lys-27', H3 'Lys-36', H3 'Lys-79' or H4 'Lys-20'. Demethylates trimethylated and dimethylated but not monomethylated H3 'Lys-4'. Participates in transcriptional repression of neuronal genes by recruiting histone deacetylases and REST at neuron-restrictive silencer elements. Represses the CLOCK-BMAL1 heterodimer-mediated transcriptional activation of the core clock component PER2 (By similarity)
Curated MONDO disease pages that list KDM5C among their top associated genes.
KDM5C · P41229
Mean pLDDT
71.9/ 100
Confident
1,560 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0
