MRTFBmyocardin related transcription factor B
Autism Reports / Total Reports
5 / 12Rare Variants / Common Variants
12 / 1Aliases
MRTFB, MKL2, MRTF-B, NPD001Associated Syndromes
-Chromosome Band
16p13.12Associated Disorders
-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
SFARI Genomic Platforms
Reports related to MRTFB (12 Reports)
| # | Type | Title | Author, Year | Autism Report | Associated Disorders |
|---|---|---|---|---|---|
| 1 | Highly Cited | Megakaryoblastic leukemia 1, a potent transcriptional coactivator for serum response factor (SRF), is required for serum induction of SRF target genes | Cen B , et al. (2003) | No | - |
| 2 | Highly Cited | Megakaryoblastic leukemia-1/2, a transcriptional co-activator of serum response factor, is required for skeletal myogenic differentiation | Selvaraj A and Prywes R (2003) | No | - |
| 3 | Primary | Linkage and candidate gene studies of autism spectrum disorders in European populations | Holt R , et al. (2010) | Yes | - |
| 4 | Recent Recommendation | Myocardin-related transcription factors regulate the Cdk5/Pctaire1 kinase cascade to control neurite outgrowth, neuronal migration and brain development | Mokalled MH , et al. (2010) | No | - |
| 5 | Recent Recommendation | Involvement of the serum response factor coactivator megakaryoblastic leukemia (MKL) in the activin-regulated dendritic complexity of rat cortical neurons | Ishikawa M , et al. (2010) | No | - |
| 6 | Support | Patterns and rates of exonic de novo mutations in autism spectrum disorders | Neale BM , et al. (2012) | Yes | - |
| 7 | Support | Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder | Girirajan S , et al. (2013) | Yes | - |
| 8 | Support | De novo mutations in schizophrenia implicate chromatin remodeling and support a genetic overlap with autism and intellectual disability | McCarthy SE , et al. (2014) | No | - |
| 9 | Support | Targeted sequencing and functional analysis reveal brain-size-related genes and their networks in autism spectrum disorders | Li J , et al. (2017) | Yes | - |
| 10 | Recent Recommendation | Synaptic localisation of SRF coactivators, MKL1 and MKL2, and their role in dendritic spine morphology | Kaneda M , et al. (2018) | No | - |
| 11 | Support | - | Zhou X et al. (2022) | Yes | - |
| 12 | Recent Recommendation | - | Andrews JC et al. (2023) | No | ASD, ADHD |
Rare Variants (12)
| Status | Allele Change | Residue Change | Variant Type | Inheritance Pattern | Parental Transmission | Family Type | PubMed ID | Author, Year |
|---|---|---|---|---|---|---|---|---|
| c.353-8T>G | - | splice_region_variant | De novo | - | - | 35982159 | Zhou X et al. (2022) | |
| c.865C>T | p.Arg289Cys | missense_variant | De novo | - | - | 35982159 | Zhou X et al. (2022) | |
| c.1501T>G | p.Ser501Ala | missense_variant | De novo | - | - | 35982159 | Zhou X et al. (2022) | |
| c.1938C>G | p.Asp646Glu | missense_variant | De novo | - | - | 35982159 | Zhou X et al. (2022) | |
| c.155-23237_155-23234dup | - | intron_variant | De novo | - | - | 35982159 | Zhou X et al. (2022) | |
| c.353-8T>G | - | splice_region_variant | De novo | - | Simplex | 35982159 | Zhou X et al. (2022) | |
| - | - | copy_number_gain | Familial | Maternal | Simplex | 23375656 | Girirajan S , et al. (2013) | |
| c.1502C>T | p.Ser501Phe | missense_variant | De novo | - | Simplex | 28831199 | Li J , et al. (2017) | |
| c.895C>T | p.Arg299Trp | missense_variant | De novo | - | Simplex | 22495311 | Neale BM , et al. (2012) | |
| c.271G>C | p.Ala91Pro | missense_variant | De novo | - | Simplex | 37013900 | Andrews JC et al. (2023) | |
| c.310C>G | p.Arg104Gly | missense_variant | De novo | - | Simplex | 37013900 | Andrews JC et al. (2023) | |
| c.1286G>A | p.Arg429His | missense_variant | De novo | - | Simplex | 24776741 | McCarthy SE , et al. (2014) |
Common Variants (1)
| Status | Allele Change | Residue Change | Variant Type | Inheritance Pattern | Paternal Transmission | Family Type | PubMed ID | Author, Year |
|---|---|---|---|---|---|---|---|---|
| c.155-24619G>A;c.-1291G>A;c.-1577G>A;c.-1056G>A | N/A | intron_variant, 2KB_upstream_variant | - | - | - | 20442744 | Holt R , et al. (2010) |
SFARI Gene score
Strong Candidate
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).
Score Delta: Score remained at 2
criteria met
See SFARI Gene'scoring criteriaWe considered a rigorous statistical comparison between cases and controls, yielding genome-wide statistical significance, with independent replication, to be the strongest possible evidence for a gene. These criteria were relaxed slightly for category 2.
4/1/2022
Decreased from 3 to 2
Description
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).
10/1/2019
Increased from to 3
New Scoring Scheme
Description
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).