Gene: KMT5B

Alternate names for this Gene: CGI-85|CGI85|MRD51|SUV420H1

Gene Summary: This gene encodes a protein that contains a SET domain. SET domains appear to be protein-protein interaction domains that mediate interactions with a family of proteins that display similarity with dual-specificity phosphatases (dsPTPases). The function of this gene has not been determined. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene.

Gene is located in Chromosome: 11

Location in Chromosome : 11q13.2

Description of this Gene: lysine methyltransferase 5B

Type of Gene: protein-coding

rs4930561 in KMT5B gene and Breast Carcinoma PMID 29059430 2017 Genome-Wide Association Study to Identify Susceptibility Loci That Modify Radiation-Related Risk for Breast Cancer After Childhood Cancer.

rs1555027828 in KMT5B gene and Dysmorphic features PMID 15145825 2004 A silencing pathway to induce H3-K9 and H4-K20 trimethylation at constitutive heterochromatin.

PMID 23665959 2013 De novo mutations in histone-modifying genes in congenital heart disease.

PMID 28191889 2017 Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases.

PMID 22495306 2012 De novo mutations revealed by whole-exome sequencing are strongly associated with autism.

PMID 25363760 2014 Synaptic, transcriptional and chromatin genes disrupted in autism.

PMID 28135719 2017 Prevalence and architecture of de novo mutations in developmental disorders.

PMID 22542183 2012 De novo gene disruptions in children on the autistic spectrum.

rs114727354 in KMT5B gene and MENTAL RETARDATION, AUTOSOMAL DOMINANT 51 PMID 29276005 2018 Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders.

PMID 28191889 2017 Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases.

rs4930561 in KMT5B gene and Malignant Childhood Neoplasm PMID 29059430 2017 Genome-Wide Association Study to Identify Susceptibility Loci That Modify Radiation-Related Risk for Breast Cancer After Childhood Cancer.

rs1555028206 in KMT5B gene and Muscle hypotonia PMID 23665959 2013 De novo mutations in histone-modifying genes in congenital heart disease.

PMID 28135719 2017 Prevalence and architecture of de novo mutations in developmental disorders.

PMID 28191889 2017 Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases.

PMID 22542183 2012 De novo gene disruptions in children on the autistic spectrum.

PMID 25363760 2014 Synaptic, transcriptional and chromatin genes disrupted in autism.

PMID 22495306 2012 De novo mutations revealed by whole-exome sequencing are strongly associated with autism.

PMID 15145825 2004 A silencing pathway to induce H3-K9 and H4-K20 trimethylation at constitutive heterochromatin.