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. These statistics are base on transcript: . Only rare variants are included in the table.

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 clinvar	2 clinvar	7
missense	1 clinvar		78 clinvar	7 clinvar	2 clinvar	88
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			1 clinvar			1
Total	1	0	79	12	4

Loading clinvar variants...

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

loftool
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