Gene: MIR6895
Alternate names for this Gene: hsa-mir-6895
Gene Summary: microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop.
Gene is located in Chromosome: X
Location in Chromosome : Xp11.22
Description of this Gene: microRNA 6895
Type of Gene: ncRNA
Gene: KDM5C
Alternate names for this Gene: DXS1272E|JARID1C|MRX13|MRXJ|MRXSCJ|MRXSJ|SMCX|XE169
Gene Summary: This gene is a member of the SMCY homolog family and encodes a protein with one ARID domain, one JmjC domain, one JmjN domain and two PHD-type zinc fingers. The DNA-binding motifs suggest this protein is involved in the regulation of transcription and chromatin remodeling. Mutations in this gene have been associated with X-linked cognitive disability. Alternative splicing results in multiple transcript variants.
Gene is located in Chromosome: X
Location in Chromosome : Xp11.22
Description of this Gene: lysine demethylase 5C
Type of Gene: protein-coding
rs1556836399 in
MIR6895;KDM5C gene and
Dysmorphic features
PMID 18203167 2008 A novel mutation in JARID1CSMCX in a patient with autism spectrum disorder (ASD).
PMID 19826449 2010 Identification and characterization of two novel JARID1C mutations: suggestion of an emerging genotype-phenotype correlation.
PMID 26919706 2016 Different X-linked KDM5C mutations in affected male siblings: is maternal reversion error involved?
PMID 17320160 2007 The X-linked mental retardation gene SMCX/JARID1C defines a family of histone H3 lysine 4 demethylases.
PMID 25666439 2015 Mutations in the intellectual disability gene KDM5C reduce protein stability and demethylase activity.
PMID 17468742 2007 The histone H3K4 demethylase SMCX links REST target genes to X-linked mental retardation.
PMID 15586325 2005 Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation.
PMID 27421841 2016 Patient Mutations of the Intellectual Disability Gene KDM5C Downregulate Netrin G2 and Suppress Neurite Growth in Neuro2a Cells.
PMID 24583395 2014 KDM5C mutational screening among males with intellectual disability suggestive of X-Linked inheritance and review of the literature.
PMID 16541399 2006 Novel JARID1C/SMCX mutations in patients with X-linked mental retardation.
PMID 23999528 2014 Exome sequencing in multiplex autism families suggests a major role for heterozygous truncating mutations.
PMID 18697827 2008 Mutations in JARID1C are associated with X-linked mental retardation, short stature and hyperreflexia.
rs1556837420 in
MIR6895;KDM5C gene and
Movement Disorders
PMID 18697827 2008 Mutations in JARID1C are associated with X-linked mental retardation, short stature and hyperreflexia.
PMID 17320160 2007 The X-linked mental retardation gene SMCX/JARID1C defines a family of histone H3 lysine 4 demethylases.
PMID 19826449 2010 Identification and characterization of two novel JARID1C mutations: suggestion of an emerging genotype-phenotype correlation.
PMID 16541399 2006 Novel JARID1C/SMCX mutations in patients with X-linked mental retardation.
PMID 15586325 2005 Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation.
PMID 24583395 2014 KDM5C mutational screening among males with intellectual disability suggestive of X-Linked inheritance and review of the literature.
PMID 26919706 2016 Different X-linked KDM5C mutations in affected male siblings: is maternal reversion error involved?
PMID 17468742 2007 The histone H3K4 demethylase SMCX links REST target genes to X-linked mental retardation.
PMID 18203167 2008 A novel mutation in JARID1CSMCX in a patient with autism spectrum disorder (ASD).
PMID 27421841 2016 Patient Mutations of the Intellectual Disability Gene KDM5C Downregulate Netrin G2 and Suppress Neurite Growth in Neuro2a Cells.
PMID 23999528 2014 Exome sequencing in multiplex autism families suggests a major role for heterozygous truncating mutations.
PMID 25666439 2015 Mutations in the intellectual disability gene KDM5C reduce protein stability and demethylase activity.
rs1556836399 in
MIR6895;KDM5C gene and
Overgrowth
PMID 26919706 2016 Different X-linked KDM5C mutations in affected male siblings: is maternal reversion error involved?
PMID 25666439 2015 Mutations in the intellectual disability gene KDM5C reduce protein stability and demethylase activity.
PMID 27421841 2016 Patient Mutations of the Intellectual Disability Gene KDM5C Downregulate Netrin G2 and Suppress Neurite Growth in Neuro2a Cells.
PMID 17320160 2007 The X-linked mental retardation gene SMCX/JARID1C defines a family of histone H3 lysine 4 demethylases.
PMID 15586325 2005 Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation.
PMID 23999528 2014 Exome sequencing in multiplex autism families suggests a major role for heterozygous truncating mutations.
PMID 17468742 2007 The histone H3K4 demethylase SMCX links REST target genes to X-linked mental retardation.
PMID 16541399 2006 Novel JARID1C/SMCX mutations in patients with X-linked mental retardation.
PMID 19826449 2010 Identification and characterization of two novel JARID1C mutations: suggestion of an emerging genotype-phenotype correlation.
PMID 24583395 2014 KDM5C mutational screening among males with intellectual disability suggestive of X-Linked inheritance and review of the literature.
PMID 18697827 2008 Mutations in JARID1C are associated with X-linked mental retardation, short stature and hyperreflexia.
PMID 18203167 2008 A novel mutation in JARID1CSMCX in a patient with autism spectrum disorder (ASD).