MRTFB

myocardin related transcription factor B, the group of Myocardin family

Basic information

Region (hg38): 16:14071319-14266773

Previous symbols: [ "MKL2" ]

Links

ENSG00000186260 ∙ NCBI:57496 ∙ OMIM:609463 ∙ HGNC:29819 ∙ Uniprot:Q9ULH7 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• neurodevelopmental disorder (Limited), mode of inheritance: AD

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the MRTFB gene.

• MRTFB-related disorder (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MRTFB gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				5	2	7
missense	1		78	7	2	88
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)			1			1
splice region						0
non coding						0
Total	1	0	79	12	4

Variants in MRTFB

This is a list of pathogenic ClinVar variants found in the MRTFB region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
16-14140610-G-T		not specified	Uncertain significance (Dec 10, 2024)
16-14140623-C-T		not specified	Uncertain significance (Feb 08, 2025)
16-14140626-T-C		not specified	Uncertain significance (May 30, 2024)
16-14140633-C-T			Benign (Jul 02, 2018)
16-14140643-G-A		not specified	Uncertain significance (Jan 29, 2024)
16-14140659-A-T		MRTFB-related disorder	Uncertain significance (Nov 21, 2023)
16-14140688-G-A		not specified	Uncertain significance (Nov 11, 2024)
16-14140747-C-T			Benign/Likely benign (Jan 01, 2023)
16-14212404-G-C		MRTFB-related disorder	Pathogenic (Jul 03, 2024)
16-14213578-C-A		MRTFB-related disorder	Pathogenic (Feb 21, 2024)
16-14213578-C-G		MRTFB-related disorder	Pathogenic (-)
16-14213586-T-G		not specified	Uncertain significance (May 17, 2023)
16-14217252-T-C		MRTFB-related disorder	Uncertain significance (Sep 24, 2024)
16-14218849-C-G		not specified	Uncertain significance (Aug 26, 2024)
16-14218855-G-A		not specified	Uncertain significance (Jun 30, 2023)
16-14218914-G-C		not specified	Uncertain significance (May 03, 2023)
16-14218936-T-A		not specified	Uncertain significance (Feb 13, 2025)
16-14218964-C-T		not specified	Uncertain significance (Jun 16, 2024)
16-14218988-C-G		MRTFB-related disorder	Uncertain significance (Feb 07, 2024)
16-14218994-C-T		not specified	Uncertain significance (Nov 09, 2022)
16-14218999-G-T			Uncertain significance (Jul 01, 2024)
16-14234164-A-G		not specified	Likely benign (Mar 06, 2023)
16-14234213-C-G		not specified	Uncertain significance (Aug 12, 2021)
16-14234215-C-T		not specified	Uncertain significance (Nov 14, 2023)
16-14240262-A-C		not specified	Uncertain significance (Dec 08, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MRTFB	protein_coding	protein_coding	ENST00000318282	15	195453

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.00	0.00000973	125737	0	10	125747	0.0000398

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.523	548	584	0.939	0.0000316	6848
Missense in Polyphen		163	230.59	0.70688		2817
Synonymous	-1.40	260	233	1.12	0.0000138	2145
Loss of Function	5.85	3	45.6	0.0657	0.00000238	527

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000544	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.000114	0.0000791
Middle Eastern	0.0000544	0.0000544
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Acts as a transcriptional coactivator of serum response factor (SRF). Required for skeletal myogenic differentiation. {ECO:0000269|PubMed:14565952}.
• Disease: DISEASE: Note=A chromosomal aberration involving C11orf95 is found in 3 chondroid lipomas. Translocation t(11;16)(q13;p13) with C11orf95 produces a C11orf95-MRTFB fusion protein (PubMed:20607705). {ECO:0000269|PubMed:20607705}.

Recessive Scores

• pRec: 0.0835

Intolerance Scores

• rvis_EVS: -1.55
• rvis_percentile_EVS: 3.27

Haploinsufficiency Scores

• pHI: 0.388
• hipred: Y
• hipred_score: 0.762
• ghis: 0.555

Mouse Genome Informatics

• Gene name: Mrtfb
• Phenotype: growth/size/body region phenotype; homeostasis/metabolism phenotype; cellular phenotype; muscle phenotype; craniofacial phenotype; cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); normal phenotype; embryo phenotype; respiratory system phenotype; liver/biliary system phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan)

Gene ontology

• Biological process: muscle organ development;positive regulation of striated muscle tissue development;positive regulation of transcription by RNA polymerase II;smooth muscle cell differentiation
• Cellular component: nucleus
• Molecular function: transcription coactivator activity;protein binding;cadherin binding