EPB41L2
protein-codingerythrocyte membrane protein band 4.1 like 2, the group of FERM domain containing|Erythrocyte membrane protein band 4.1
Gene summary
Predicted to enable PH domain binding activity; cytoskeletal protein binding activity; and structural molecule activity. Involved in positive regulation of protein localization to cell cortex. Located in several cellular components, including cell cortex; cell junction; and 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 ~224.0 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 EPB41L2 variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_001431.4. 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 | 5 | 1 | 6 | |||
| missense | 152 | 4 | 1 | 157 | ||
| nonsense | 1 | 1 | ||||
| start loss | 0 | |||||
| frameshift | 2 | 2 | ||||
| splice donor/acceptor (+/-2bp) | 3 | 3 | ||||
| Total | 0 | 0 | 163 | 4 | 2 | 169 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_001422.1 | 18 | MANE Select | |
| Ensembl | ENSP00000338481.3 | 18 | MANE Select | |
| RefSeq | NP_001129026.1 | 13 | Standard | |
| RefSeq | NP_001129027.1 | 13 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Pathways ConsensusPathDB
- Splicing factor NOVA regulated synaptic proteins
- Neuronal System
- Neurexins and neuroligins
- Protein-protein interactions at synapses
Biological Process
- cell cycle
- cortical actin cytoskeleton organization
- actomyosin structure organization
- cell division
- positive regulation of protein localization to cell cortex
Molecular Function
- actin binding
- structural molecule activity
- protein binding
- spectrin binding
- PH domain binding
Cellular Component
- nucleus
- nucleoplasm
- cytosol
- plasma membrane
- focal adhesion
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000337057
- Coding exons
- 18
- Length
- 223976
- Individuals with no LoFs
- 125710
- Homozygous LoFs
- 0
- Heterozygous LoFs
- 38
- Defined
- 125748
- p
- 0.000151
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | 0.688 | 503 | 548 | 0.917 | 0.0000303 | 6586 |
| Missense (PolyPhen) | 253 | 313.05 | 0.80819 | 3807 | ||
| Synonymous | -0.0600 | 204 | 203 | 1.01 | 0.0000115 | 1918 |
| Loss of Function | 5.51 | 8 | 50.1 | 0.160 | 0.00000242 | 639 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.00025 | 0.00025 | rare |
| Latino/Admixed American | 0.000029 | 0.000029 | rare |
| Ashkenazi Jewish | 0 | 0.0 | absent |
| East Asian | 0.000054 | 0.000054 | rare |
| Finnish | 0 | 0.0 | absent |
| European (Non-Finnish) | 0.00024 | 0.00024 | rare |
| South Asian | 0.00017 | 0.00016 | rare |
| Other | 0 | 0.0 | absent |
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: Required for dynein-dynactin complex and NUMA1 recruitment at the mitotic cell cortex during anaphase (PubMed:23870127). {ECO:0000269|PubMed:23870127}.;
Recessive Scores
- pRec
- 0.132
Intolerance Scores
- LoFtool
- 0.0229
- RVIS EVS
- -0.99
- RVIS percentile EVS
- 8.63
Essentials
- Essential (CRISPR)
- N
- Essential (CRISPR2)
- N
- Essential (gene trap)
- N
- Indispensability pred.
- E
- Indispensability score
- 0.698
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |