MARVELD1
protein-codingMARVEL domain containing 1, the group of MARVEL domain containing
Gene summary
Predicted to be a structural constituent of myelin sheath. Predicted to be involved in myelination. Predicted to be located in cytoskeleton; nucleus; and plasma membrane. Predicted to be active in membrane. [provided by Alliance of Genome Resources, Jun 2026]
- MRVLDC1
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~5.0 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 MARVELD1 variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_031484.4. 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 | 0 | |||||
| missense | 25 | 1 | 26 | |||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 25 | 1 | 0 | 26 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_113672.1 | 1 | MANE Select | |
| Ensembl | ENSP00000441365.1 | 1 | MANE Select | |
| Ensembl | ENSP00000792761.1 | 1 | Standard | |
| Ensembl | ENSP00000813921.1 | 1 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Biological Process
- cell cycle
- myelination
Molecular Function
- structural constituent of myelin sheath
Cellular Component
- nucleus
- cytoplasm
- cytoskeleton
- plasma membrane
- integral component of membrane
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000285605
- Coding exons
- 1
- Length
- 4978
- Individuals with no LoFs
- 0
- Homozygous LoFs
- 0
- Heterozygous LoFs
- 0
- Defined
- 0
- p
- 0.00
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | 1.21 | 60 | 92.9 | 0.646 | 0.00000414 | 1079 |
| Missense (PolyPhen) | 25 | 45.027 | 0.55522 | 493 | ||
| Synonymous | 0.420 | 43 | 46.7 | 0.922 | 0.00000219 | 400 |
| Loss of Function | 1.56 | 1 | 4.62 | 0.216 | 2.00e-7 | 46 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0 | 0.0 | absent |
| Latino/Admixed American | 0 | 0.0 | absent |
| Ashkenazi Jewish | 0 | 0.0 | absent |
| East Asian | 0 | 0.0 | absent |
| Finnish | 0 | 0.0 | absent |
| European (Non-Finnish) | 0 | 0.0 | absent |
| South Asian | 0 | 0.0 | absent |
| Other | 0 | 0.0 | absent |
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: Microtubule-associated protein that exhibits cell cycle- dependent localization and can inhibit cell proliferation and migration. {ECO:0000250}.;
Recessive Scores
- pRec
- 0.135
Essentials
- Essential (CRISPR2)
- N
- Essential (gene trap)
- N
- Indispensability pred.
- N
- Indispensability score
- 0.114
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Low | Medium |
| Primary Immunodeficiency | Medium | Low | Medium |
| Cancer | Medium | Medium | Medium |