MYO5B
Chr 18myosin VB
Also known as: DIAR2, MVID1, PFIC10
The protein encoded by this gene, together with other proteins, may be involved in plasma membrane recycling. Mutations in this gene are associated with microvillous inclusion disease. [provided by RefSeq, Sep 2009]
Primary Disease Associations & Inheritance
UniProtDiarrhea 2, with microvillus atrophy, with or without cholestasis
UniProtCholestasis, progressive familial intrahepatic, 10
Clinical highlights
Interpreting a novel variant
Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.
📖
Open GeneReview ↗GeneReview available — MYO5B
Authoritative clinical overview · Recommended first read
Some data sources returned errors (1)
omim: Error: OMIM fetch failed: 429
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.69LOEUF
pLI 0.000
Z-score 4.13
OE 0.55 (0.44–0.69)
Typical tolerance to LoF variation
Missense Constraint?
-0.62Z-score
OE missense 1.05 (1.00–1.11)
1051 obs / 996.3 exp
Tolerant to missense variation
Observed / Expected Ratios?
LoF OE?0.55 (0.44–0.69)
0≤0.351.4
Missense OE?1.05 (1.00–1.11)
0≤0.61.4
Synonymous OE?1.11
0≤1.21.6
LoF obs/exp: 53 / 96.9Missense obs/exp: 1051 / 996.3Syn Z: -1.68
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
MYO5B · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
📖
Open GeneReview ↗GeneReview available — MYO5B
Authoritative clinical overview · NCBI Bookshelf · Recommended first read
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
External Resources
Links to major genomics databases and tools