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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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MYO5B
myosin VB
Chromosome 18 Β· 18q21.1
NCBI Gene: 4645Ensembl: ENSG00000167306.22HGNC: HGNC:7603UniProt: Q7Z7A5
115PubMed Papers
22Diseases
0Drugs
104Pathogenic Variants
FUNCTIONAL ROLE
Transporter
RESEARCH IMPACT
Variant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
endosomal transportprotein bindingapical cortexvesicle-mediated transportmicrovillus inclusion diseaseprogressive familial intrahepatic cholestasisneurodegenerative diseaseprogressive familial intrahepatic cholestasis type 1
✦AI Summary

MYO5B encodes myosin VB, a molecular motor protein essential for intracellular vesicular trafficking and membrane transport processes. The protein facilitates trafficking of key transporters including the bile salt export pump (BSEP/ABCB11) to the apical membrane of hepatocytes, which is critical for proper bile formation and secretion 1. MYO5B works in complex with RAB11 GTPases to transport various cargo proteins, including NPC1L1 for cholesterol absorption and supports epithelial cell polarization 2. The protein also mediates fibronectin secretion through RAB11b-dependent vesicular transport, contributing to extracellular matrix formation 3. Clinically, MYO5B mutations cause progressive familial intrahepatic cholestasis type 10 (PFIC10), characterized by impaired bile flow, cholestasis, and progressive liver disease 45. Interestingly, the clinical severity and treatment response in MYO5B-associated cholestasis do not correlate directly with BSEP localization abnormalities, suggesting multiple pathogenic mechanisms beyond BSEP trafficking defects 6. Recent clinical trials demonstrate that PFIC patients, including those with MYO5B variants, respond to maralixibat treatment, which reduces pruritus and serum bile acids by inhibiting intestinal bile acid reabsorption 7. This highlights the therapeutic potential of targeting bile acid homeostasis in MYO5B-related liver disease.

Sources cited
1
MYO5B mutations cause PFIC and the protein is important for BSEP trafficking and hepatocyte membrane polarization
PMID: 33384548
2
MYO5B facilitates cholesterol absorption by transporting NPC1L1 in complex with myosin Vb
PMID: 29880681
3
Myo5b transports fibronectin-containing vesicles and facilitates FN1 secretion via RAB11b-dependent mechanisms
PMID: 35563212
4
MYO5B is one of the major PFIC genes causing genetic cholestasis
PMID: 30266155
5
MYO5B variants cause progressive familial intrahepatic cholestasis disorders
PMID: 35868680
6
Clinical parameters in MYO5B-associated cholestasis do not correlate with BSEP localization abnormalities, suggesting multiple pathogenic mechanisms
PMID: 41511375
7
PFIC patients including those with MYO5B variants respond to maralixibat treatment with improved pruritus and reduced serum bile acids
PMID: 38723644
Disease Associationsβ“˜22
microvillus inclusion diseaseOpen Targets
0.85Strong
progressive familial intrahepatic cholestasisOpen Targets
0.76Strong
neurodegenerative diseaseOpen Targets
0.46Moderate
progressive familial intrahepatic cholestasis type 1Open Targets
0.37Weak
inflammatory bowel disease 1Open Targets
0.33Weak
ovarian neoplasmOpen Targets
0.32Weak
ocular hypotensionOpen Targets
0.31Weak
refractive errorOpen Targets
0.25Weak
mouth diseaseOpen Targets
0.25Weak
connective tissue neoplasmOpen Targets
0.24Weak
cervical carcinomaOpen Targets
0.24Weak
liver diseaseOpen Targets
0.23Weak
hyperpituitarismOpen Targets
0.23Weak
diarrhea 12, with microvillus atrophyOpen Targets
0.20Weak
Abnormality of refractionOpen Targets
0.19Weak
genetic disorderOpen Targets
0.19Weak
myopiaOpen Targets
0.19Weak
endocrine system diseaseOpen Targets
0.19Weak
diaphragm diseaseOpen Targets
0.17Weak
corneal diseaseOpen Targets
0.14Weak
Cholestasis, progressive familial intrahepatic, 10UniProt
Diarrhea 2, with microvillus atrophy, with or without cholestasisUniProt
Pathogenic Variants104
NM_001080467.3(MYO5B):c.2062C>T (p.Arg688Ter)Pathogenic
Congenital microvillous atrophy|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 688
NM_001080467.3(MYO5B):c.1347del (p.Phe450fs)Pathogenic
Congenital microvillous atrophy|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 450
NM_001080467.3(MYO5B):c.244G>A (p.Glu82Lys)Pathogenic
not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 82
NM_001080467.3(MYO5B):c.656G>A (p.Arg219His)Pathogenic
Congenital microvillous atrophy|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 219
NM_001080467.3(MYO5B):c.4168C>T (p.Gln1390Ter)Pathogenic
not provided|Congenital microvillous atrophy
β˜…β˜…β˜†β˜†2024β†’ Residue 1390
NM_001080467.3(MYO5B):c.1462del (p.Ile488fs)Pathogenic
Congenital microvillous atrophy|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 488
NM_001080467.3(MYO5B):c.947G>T (p.Gly316Val)Pathogenic
Congenital microvillous atrophy
β˜…β˜…β˜†β˜†2024β†’ Residue 316
NM_001080467.3(MYO5B):c.1576C>T (p.Gln526Ter)Pathogenic
not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 526
NM_001080467.3(MYO5B):c.4611+2T>CLikely pathogenic
not provided|Cholestasis, progressive familial intrahepatic, 10;Congenital microvillous atrophy
β˜…β˜…β˜†β˜†2024
NM_001080467.3(MYO5B):c.1202G>A (p.Arg401His)Likely pathogenic
not provided|Congenital microvillous atrophy|MYO5B-related disorder
β˜…β˜…β˜†β˜†2023β†’ Residue 401
NM_001080467.3(MYO5B):c.4905del (p.Thr1636fs)Pathogenic
Congenital microvillous atrophy|not provided
β˜…β˜…β˜†β˜†2023β†’ Residue 1636
NM_001080467.3(MYO5B):c.2641C>T (p.Gln881Ter)Pathogenic
Congenital microvillous atrophy|not provided
β˜…β˜…β˜†β˜†2022β†’ Residue 881
NM_001080467.3(MYO5B):c.3277-2A>GPathogenic
Congenital microvillous atrophy|not provided
β˜…β˜…β˜†β˜†2021
NM_001080467.3(MYO5B):c.4611+1G>ALikely pathogenic
not provided
β˜…β˜†β˜†β˜†2025
NM_001080467.3(MYO5B):c.2811+2T>CLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2025
NM_001080467.3(MYO5B):c.2003+2T>ALikely pathogenic
Congenital microvillous atrophy|not provided
β˜…β˜†β˜†β˜†2025
NM_001080467.3(MYO5B):c.1906-1G>TPathogenic
not provided
β˜…β˜†β˜†β˜†2025
NM_001080467.3(MYO5B):c.3046C>T (p.Arg1016Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 1016
NM_001080467.3(MYO5B):c.5080_5081del (p.Thr1693_Leu1694insTer)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 1693
NM_001080467.3(MYO5B):c.1346del (p.Ser449fs)Pathogenic
Congenital microvillous atrophy
β˜…β˜†β˜†β˜†2025β†’ Residue 449
View on ClinVar β†—
Related Genes
RAB11AProtein interaction100%OPTNProtein interaction99%RAB10Protein interaction97%RAB25Protein interaction97%RAB11BProtein interaction96%RAB3IPProtein interaction96%
Tissue Expression6 tissues
Liver
100%
Lung
38%
Brain
29%
Heart
15%
Ovary
7%
Bone Marrow
5%
Gene Interaction Network
Click a node to explore
MYO5BRAB11AOPTNRAB10RAB25RAB11BRAB3IP
PROTEIN STRUCTURE
Preparing viewer…
PDB4J5M Β· 2.07 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.71LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.61 [0.53–0.71]
RankingsWhere MYO5B stands among ~20K protein-coding genes
  • #4,125of 20,598
    Most Researched115 Β· top quartile
  • #746of 5,498
    Most Pathogenic Variants104 Β· top quartile
  • #5,405of 17,882
    Most Constrained (LOEUF)0.71
Genes detectedMYO5B
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Progressive Familial Intrahepatic Cholestasis.
PMID: 30266155
Clin Liver Dis Β· 2018
1.00
2
Overview of Progressive Familial Intrahepatic Cholestasis.
PMID: 35868680
Clin Liver Dis Β· 2022
0.90
3
Molecular overview of progressive familial intrahepatic cholestasis.
PMID: 33384548
World J Gastroenterol Β· 2020
0.80
4
Jaundice revisited: recent advances in the diagnosis and treatment of inherited cholestatic liver diseases.
PMID: 30367658
J Biomed Sci Β· 2018
0.70
5
Maralixibat in progressive familial intrahepatic cholestasis (MARCH-PFIC): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial.
PMID: 38723644
Lancet Gastroenterol Hepatol Β· 2024
0.60