MRTFB
Homo sapiens
Gene Name: myocardin related transcription factor B
Aliases: MKL2, MRTF-B, NPD001
Chromosome No: 16
Chromosome Band: 16p13.12
Genetic Category: Genetic Association-Rare Single Gene variant-Multigenic CNV-Syndromic/Functional
Aliases: MKL2, MRTF-B, NPD001
Chromosome No: 16
Chromosome Band: 16p13.12
Genetic Category: Genetic Association-Rare Single Gene variant-Multigenic CNV-Syndromic/Functional
Summary Statistics:
ASD Reports: 12
Recent Reports: 4
Annotated variants: 13
Associated CNVs: 3
Evidence score: 3
ASD Reports: 12
Recent Reports: 4
Annotated variants: 13
Associated CNVs: 3
Evidence score: 3
| Associated Disorders: |
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Relevance to Autism
Genetic association has been found between the MRTFB gene (formerly known as the MKL2 gene) and autism in a Finnish population cohort (Holt et al., 2010). In addition, rare mutations in the MRTFB gene have been identified in individuals with ASD (Neale et al., 2012). shRNA-mediated knockdown of MRTFB in cultured neurons demonstrated a role for this gene in dendritic spine maturation (Kaneda et al., 2018).
Molecular Function
A strong transcriptional co-activator of promoters containing serum response elements (SRE)
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Linkage and candidate gene studies of autism spectrum disorders in European populations.
ASD
Support
Patterns and rates of exonic de novo mutations in autism spectrum disorders.
ASD
Support
Targeted sequencing and functional analysis reveal brain-size-related genes and their networks in autism spectrum disorders.
ASD
Support
De novo mutations in schizophrenia implicate chromatin remodeling and support a genetic overlap with autism and intellectual disability.
SCZ
Support
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
ASD
Highly Cited
Megakaryoblastic leukemia-1/2, a transcriptional co-activator of serum response factor, is required for skeletal myogenic differentiation.
Highly Cited
Megakaryoblastic leukemia 1, a potent transcriptional coactivator for serum response factor (SRF), is required for serum induction of SRF target ge...
Recent Recommendation
Synaptic localisation of SRF coactivators, MKL1 and MKL2, and their role in dendritic spine morphology.
Recent Recommendation
Involvement of the serum response factor coactivator megakaryoblastic leukemia (MKL) in the activin-regulated dendritic complexity of rat cortical ...
Recent Recommendation
Myocardin-related transcription factors regulate the Cdk5/Pctaire1 kinase cascade to control neurite outgrowth, neuronal migration and brain develo...
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
Common
Variant ID
Polymorphism
SNP ID
Allele Change
Residue Change
Population Origin
Population Stage
Author, Year
GEN161C001
intron_variant, 2KB_upstream_variant
rs756472
c.155-24619G>A;c.-1291G>A;c.-1577G>A;c.-1056G>A
N/A
Finnish
Discovery