GeneBe

MYEF2

myelin expression factor 2, the group of RNA binding motif containing

Basic information

Region (hg38): 15:48134632-48178353

Links

ENSG00000104177 ∙ NCBI:50804 ∙ OMIM:619395 ∙ HGNC:17940 ∙ Uniprot:Q9P2K5 ∙ 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 MYEF2 gene.

  • not_specified (57 variants)
  • MYEF2-related_condition (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MYEF2 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000016132.5. 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.

EffectPLPVUSLBBSum
synonymous
0
missense
56
clinvar
1
clinvar
 57
nonsense
0
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
0
Total 0 0 56 1 0
Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
MYEF2protein_codingprotein_codingENST00000324324 1739090
pLI Probability
LOF Intolerant 		pRec Probability
LOF Recessive 		Individuals with
no LOFs 		Individuals with
Homozygous LOFs 		Individuals with
Heterozygous LOFs 		Defined p
0.6350.36512508646551257450.00262
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense1.532583370.7660.00001733962
Missense in Polyphen75125.20.599031480
Synonymous2.97661050.6310.000005391091
Loss of Function4.28733.90.2070.00000185414

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.002920.00292
Ashkenazi Jewish0.002290.00228
East Asian0.00005980.0000544
Finnish0.0002310.000231
European (Non-Finnish)0.004390.00435
Middle Eastern0.00005980.0000544
South Asian0.0009540.000948
Other0.003950.00375

dbNSFP

Source: dbNSFP

Function
FUNCTION: Transcriptional repressor of the myelin basic protein gene (MBP). Binds to the proximal MB1 element 5'-TTGTCC-3' of the MBP promoter. Its binding to MB1 and function are inhibited by PURA (By similarity). {ECO:0000250}.;
Pathway
Physiological and Pathological Hypertrophy of the Heart;MicroRNAs in cardiomyocyte hypertrophy;TFs Regulate miRNAs related to cardiac hypertrophy;Mitochondrial Gene Expression (Consensus)

Recessive Scores

pRec
0.308

Intolerance Scores

loftool
0.531
rvis_EVS
-0.07
rvis_percentile_EVS
48.54

Haploinsufficiency Scores

pHI
0.385
hipred
Y
hipred_score
0.735
ghis
0.531

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
E
gene_indispensability_score
0.826

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Myef2
Phenotype

Zebrafish Information Network

Gene name
myef2
Affected structure
hematopoietic stem cell
Phenotype tag
abnormal
Phenotype quality
decreased amount

Gene ontology

Biological process
negative regulation of transcription by RNA polymerase II;myotube differentiation;neuron differentiation;regulation of mRNA stability involved in response to oxidative stress
Cellular component
nucleus;cytoplasm;post-mRNA release spliceosomal complex;ribonucleoprotein complex
Molecular function
RNA polymerase II proximal promoter sequence-specific DNA binding;single-stranded DNA binding;RNA binding;mRNA binding