MRTFB

Chr 16

myocardin related transcription factor B

Also known as: MKL2, MRTF-B, NPD001

NCBI Gene: 57496 ENSG00000186260 UniProt: Q9ULH7

The MRTFB protein acts as a transcriptional coactivator of serum response factor (SRF) and is required for skeletal myogenic differentiation. Mutations cause autosomal dominant developmental and epileptic encephalopathy, affecting neurological development and muscle function. This gene is highly constrained against loss-of-function variants (pLI = 1.0, LOEUF = 0.17), indicating that complete loss of function is likely incompatible with normal development.

ResearchSummary from RefSeq, UniProt

Enables transcription coactivator activity. Involved in positive regulation of miRNA transcription; positive regulation of striated muscle tissue development; and positive regulation of transcription by RNA polymerase II. Located in nuclear speck. Implicated in syndromic intellectual disability. [provided by Alliance of Genome Resources, Jun 2026]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

Gain of function is the curated mechanism (Gene2Phenotype), so a variant that simply removes the protein may not be the pathogenic class here — missense variants in functional domains often carry more weight.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.17

LOEUF· LoF intol.

GOF*

Mechanism· G2P

Some data sources returned errors (1)

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