MEF2B

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

Basic information

Region (hg38): 19:19145566-19192131

Links

ENSG00000213999 ∙ 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.

• Inborn genetic diseases (15 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.

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			3		1	4
missense			6			6
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			6			6
Total	0	0	15	0	1

Variants in MEF2B

This is a list of pathogenic ClinVar variants found in the MEF2B region.

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

Position	Type	Phenotype	Significance	ClinVar
19-19145705-T-A		not specified	Uncertain significance (Sep 14, 2021)
19-19145728-G-A		not specified	Uncertain significance (May 23, 2023)
19-19145738-C-T		not specified	Uncertain significance (May 31, 2022)
19-19145749-C-G		not specified	Uncertain significance (Sep 16, 2021)
19-19145758-C-G		not specified	Uncertain significance (Jul 25, 2023)
19-19145764-G-A		not specified	Uncertain significance (Feb 15, 2023)
19-19145773-G-A		not specified	Uncertain significance (Dec 21, 2023)
19-19145800-C-T		not specified	Uncertain significance (Feb 10, 2022)
19-19145869-C-A		not specified	Uncertain significance (Jan 06, 2023)
19-19145911-G-A		not specified	Uncertain significance (Jun 27, 2022)
19-19145913-C-T		not specified	Uncertain significance (Jan 23, 2024)
19-19146306-C-A		not specified	Uncertain significance (Feb 04, 2022)
19-19146373-C-T		not specified	Uncertain significance (Mar 21, 2023)
19-19146797-C-T		not specified	Uncertain significance (Jun 05, 2023)
19-19147081-G-A		not specified	Uncertain significance (Jun 21, 2022)
19-19147124-G-T			Benign/Likely benign (Feb 01, 2024)
19-19147751-G-A		not specified	Uncertain significance (Dec 14, 2022)
19-19149293-C-T		not specified	Uncertain significance (Dec 28, 2022)
19-19150708-G-A		not specified	Uncertain significance (Aug 17, 2022)
19-19182579-C-A		not specified	Uncertain significance (Jan 19, 2024)
19-19182607-G-A		not specified	Uncertain significance (Oct 12, 2022)
19-19182640-C-T		not specified	Uncertain significance (May 17, 2023)
19-19182645-C-A		not specified	Uncertain significance (Dec 19, 2023)
19-19182645-C-T		not specified	Uncertain significance (Apr 04, 2023)
19-19182655-C-T		not specified	Uncertain significance (Dec 14, 2022)

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

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