MEF2B

myocyte enhancer factor 2B, the group of MADS box family|Myocyte enhancer factor 2 proteins

Basic information

Region (hg38): 19:19145567-19192131

Links

∙ NCBI:100271849 ∙ OMIM:600661 ∙ HGNC:6995 ∙ Uniprot:Q02080 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the MEF2B gene.

not_specified (29 variants)
not_provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MEF2B gene is commonly pathogenic or not. These statistics are base on transcript: NM_001145785.2. 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.

Effect	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous			8 clinvar	1 clinvar		9
missense			22 clinvar			22
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	30	1	0

Loading clinvar variants...

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MEF2B	protein_coding	protein_coding	ENST00000162023	8	47024

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000929	0.947	124567	0	205	124772	0.000822

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.29	147	198	0.743	0.0000131	2265
Missense in Polyphen		61	90.78	0.67195		898
Synonymous	0.359	83	87.3	0.951	0.00000571	834
Loss of Function	1.71	7	13.9	0.504	9.37e-7	157

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00267	0.00264
Ashkenazi Jewish	0.000298	0.000298
East Asian	0.000764	0.000761
Finnish	0.000653	0.000647
European (Non-Finnish)	0.00110	0.00109
Middle Eastern	0.000764	0.000761
South Asian	0.0000996	0.0000980
Other	0.000822	0.000816

dbNSFP

Source: dbNSFP

Function: FUNCTION: Transcriptional activator which binds specifically to the MEF2 element, 5'-YTA[AT](4)TAR-3', found in numerous muscle- specific genes. Activates transcription via this element. May be involved in muscle-specific and/or growth factor-related transcription.;
Pathway: Apelin signaling pathway - Homo sapiens (human);cGMP-PKG signaling pathway - Homo sapiens (human);Energy Metabolism;SRF and miRs in Smooth Muscle Differentiation and Proliferation;miRs in Muscle Cell Differentiation;Cell Differentiation - Index expanded;Cell Differentiation - Index;Developmental Biology;role of erk5 in neuronal survival pathway;regulation of pgc-1a;p38 mapk signaling pathway;angiotensin ii mediated activation of jnk pathway via pyk2 dependent signaling;signal dependent regulation of myogenesis by corepressor mitr;mapkinase signaling pathway;CDO in myogenesis;Myogenesis;control of skeletal myogenesis by hdac and calcium/calmodulin-dependent kinase (camk) (Consensus)

Recessive Scores

pRec: 0.0917

Intolerance Scores

loftool: 0.252
rvis_EVS: -0.6
rvis_percentile_EVS: 17.75

Haploinsufficiency Scores

pHI: 0.164
hipred: N
hipred_score: 0.374
ghis: 0.530

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: N
essential_gene_gene_trap: N
gene_indispensability_pred: E
gene_indispensability_score: 0.834

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

Gene name: Mef2b
Phenotype

Gene ontology

Biological process: muscle organ development;positive regulation of transcription by RNA polymerase II
Cellular component: nuclear chromatin;nucleus;transcription factor complex
Molecular function: RNA polymerase II proximal promoter sequence-specific DNA binding;DNA-binding transcription factor activity, RNA polymerase II-specific;DNA-binding transcription activator activity, RNA polymerase II-specific;DNA-binding transcription factor activity;histone deacetylase binding;protein dimerization activity