MYEF2
protein-codingmyelin expression factor 2, the group of RNA binding motif containing
Gene summary
Enables RNA binding activity. Involved in myotube differentiation and neuron differentiation. Located in nucleus. [provided by Alliance of Genome Resources, Jul 2025]
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~43.7 kbGenCC Phenotypes & Disease Associations
Curated gene-disease validity assertions and inheritance patterns
No GenCC data available for this gene.
ClinVar Associated Diseases & Phenotypes
Reported disease conditions connected to MYEF2 variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_016132.5. Only rare variants are included.
We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.
Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.
| Effect | PathogenicP | Likely pathogenicLP | VUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 1 | 1 | ||||
| missense | 61 | 1 | 62 | |||
| nonsense | 3 | 3 | ||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 4 | 4 | ||||
| Total | 0 | 0 | 69 | 1 | 0 | 70 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_057216.3 | 17 | MANE Select | |
| Ensembl | ENSP00000316950.7 | 17 | MANE Select | |
| RefSeq | NP_001288139.2 | 16 | Standard | |
| Ensembl | ENSP00000267836.6 | 16 | Standard |
Model Organisms & Knockout Phenotypes
Observed phenotypic effects in mouse and zebrafish models
| Gene / Model | Organism | Observed Phenotype |
|---|---|---|
| myef2 | Danio rerio | Structure: hematopoietic stem cell Quality: decreased amount abnormal |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Pathways ConsensusPathDB
- Physiological and Pathological Hypertrophy of the Heart
- MicroRNAs in cardiomyocyte hypertrophy
- TFs Regulate miRNAs related to cardiac hypertrophy
- Mitochondrial Gene Expression
Biological Process
- negative regulation of transcription by RNA polymerase II
- myotube differentiation
- neuron differentiation
- regulation of mRNA stability involved in response to oxidative stress
Molecular Function
- RNA polymerase II proximal promoter sequence-specific DNA binding
- single-stranded DNA binding
- RNA binding
- mRNA binding
Cellular Component
- nucleus
- cytoplasm
- post-mRNA release spliceosomal complex
- ribonucleoprotein complex
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000324324
- Coding exons
- 17
- Length
- 39090
- Individuals with no LoFs
- 125086
- Homozygous LoFs
- 4
- Heterozygous LoFs
- 655
- Defined
- 125745
- p
- 0.00262
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | 1.53 | 258 | 337 | 0.766 | 0.0000173 | 3962 |
| Missense (PolyPhen) | 75 | 125.2 | 0.59903 | 1480 | ||
| Synonymous | 2.97 | 66 | 105 | 0.631 | 0.00000539 | 1091 |
| Loss of Function | 4.28 | 7 | 33.9 | 0.207 | 0.00000185 | 414 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.00087 | 0.00086 | rare |
| Latino/Admixed American | 0.0021 | 0.0020 | notable |
| Ashkenazi Jewish | 0.0023 | 0.0023 | notable |
| East Asian | 0.000060 | 0.000054 | rare |
| Finnish | 0.00023 | 0.00023 | rare |
| European (Non-Finnish) | 0.0044 | 0.0044 | notable |
| South Asian | 0.00095 | 0.00095 | rare |
| Other | 0.0040 | 0.0038 | notable |
dbNSFP Gene Annotations
Source:
- 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}.;
Recessive Scores
- pRec
- 0.308
Intolerance Scores
- LoFtool
- 0.531
- RVIS EVS
- -0.07
- RVIS percentile EVS
- 48.54
Essentials
- Essential (CRISPR)
- N
- Essential (CRISPR2)
- N
- Essential (gene trap)
- N
- Indispensability pred.
- E
- Indispensability score
- 0.826
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |