MYO5B (myosin VB)

2012-08-01  

Identity

HGNC
LOCATION
18q21.1
LOCUSID
ALIAS
-
FUSION GENES

Other Information

Locus ID:

NCBI: 4645
MIM: 606540
HGNC: 7603
Ensembl: ENSG00000167306

Variants:

dbSNP: 4645
ClinVar: 4645
TCGA: ENSG00000167306
COSMIC: MYO5B

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000167306ENST00000285039Q9ULV0
ENSG00000167306ENST00000324581A0A0A0MR36
ENSG00000167306ENST00000592688Q9ULV0

Expression (GTEx)

0
5
10
15
20
25

Pathways

PathwaySourceExternal ID
Transmembrane transport of small moleculesREACTOMER-HSA-382551
Aquaporin-mediated transportREACTOMER-HSA-445717
Vasopressin regulates renal water homeostasis via AquaporinsREACTOMER-HSA-432040

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
183174682008Whole-genome association study of bipolar disorder.244
114085902001Myosin vb is associated with plasma membrane recycling systems.164
187243682008MYO5B mutations cause microvillus inclusion disease and disrupt epithelial cell polarity.109
212826562011Rab GTPase-Myo5B complexes control membrane recycling and epithelial polarization.75
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
162148902005Rab11a and myosin Vb are required for bile canalicular formation in WIF-B9 cells.60
174629982007Myosin Vb is required for trafficking of the cystic fibrosis transmembrane conductance regulator in Rab11a-specific apical recycling endosomes in polarized human airway epithelial cells.53
190082342009Alternative splicing in class V myosins determines association with Rab10.49
201866872010Loss-of-function of MYO5B is the main cause of microvillus inclusion disease: 15 novel mutations and a CaCo-2 RNAi cell model.42
248928062014Myosin Vb uncoupling from RAB8A and RAB11A elicits microvillus inclusion disease.42

Citation

Dessen P

MYO5B (myosin VB)

Atlas Genet Cytogenet Oncol Haematol. 2012-08-01

Online version: http://atlasgeneticsoncology.org/gene/52800/myo5b-(myosin-vb)