MYO5B - myosin VB Gene

Also Known as DIAR2; MVID1; PFIC10

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 4645

About MYO5B

Cytogenetic location: 18q21.1 Genomic coordinates (GRCh38): 18:49,822,789-50,195,147 (from NCBI)

This gene has 12 transcripts (splice variants), 229 orthologues, 43 paralogues and is associated with 6 phenotypes. Broad expression in small intestine (RPKM 15.1), duodenum (RPKM 14.8) and 18 other tissues.

Summary

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]

MYO5B Products (1)

mRNA	Protein	Name
NM_001080467.3	NP_001073936.1	unconventional myosin-Vb

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	19542231	GOA
enables small GTPase binding	IPI IPI: Inferred from physical interaction	17462998	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in endosomal transport	IMP IMP: Inferred from mutant phenotype	21206382	GOA
involved in vesicle-mediated transport	IMP IMP: Inferred from mutant phenotype	17462998	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in apical cortex	IDA IDA: Inferred from direct assay	21206382	GOA
part of protein-containing complex	IDA IDA: Inferred from direct assay	17462998	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

MYO5B Protein Structure

Myosin_head

DIL

0
300
600
900
1200
1500
1848 a.a.

Protein Preferred Names	Protein Names
unconventional myosin-Vb	MYO5B variant protein

MYO5B Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	MYO5B	Q9ULV0	AMOTL2	Homo sapiens	Q9Y2J4-4	Y2H Prey Pooling	25416956
Intra	MYO5B	Q9ULV0	AMOTL2	Homo sapiens	Q9Y2J4-4	Validated Y2H	25416956
Intra	MYO5B	Q9ULV0	TRIM54	Homo sapiens	Q9BYV2	Y2H Prey Pooling	25416956
Intra	MYO5B	Q9ULV0	TCF4	Homo sapiens	P15884	Y2H Prey Pooling	25416956
Intra	MYO5B	Q9ULV0	TCF4	Homo sapiens	P15884	Y2H Array	25416956
Intra	MYO5B	Q9ULV0	BNIP2	Homo sapiens	Q12982	Y2H Array	25416956
Intra	MYO5B	Q9ULV0	BNIP2	Homo sapiens	Q12982	Y2H Prey Pooling	25416956

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis	Davidson Disease DIAR2 Microvillus Inclusion Disease 1 Mvid1 Congenital Familial Protracted Diarrhea With Enterocyte Brush-Border Abnormalities Diarrhea 2, With Microvillus Atrophy Microvillus Atrophy, Congenital Diarrhea With Microvillus Atrophy 2 Diarrhea 2 Intractable Diarrhea Of Infancy Microvillus Atrophy Congenital Microvillus Inclusion Disease
Microvillus Inclusion Disease	Congenital Microvillous Atrophy Intractable Diarrhea Of Infancy Congenital Familial Protracted Diarrhea With Enterocyte Brush-Border Abnormalities Davidson Disease Microvillous Inclusion Disease Congenital Microvillus Atrophy Mvid Diarrhea 2 With Microvillus Atrophy Mvd Congenital Familial Protracted Diarrhea Davidson'S Disease Familial Enteropathy, Microvillus Microvillus Atrophy, Congenital Congenital Enteropathy Familial Protracted Enteropathy Microvillous Atrophy Microvillus Atrophy With Diarrhea 2 Idi
Cholestasis, Progressive Familial Intrahepatic, 10	PFIC10
Myo5b-Related Progressive Familial Intrahepatic Cholestasis	Myo5b Deficiency
Cholestasis, Progressive Familial Intrahepatic, 1	PFIC1 Byler Disease Cholestasis, Progressive Familial Intrahepatic 1 Progressive Familial Intrahepatic Cholestasis 1 Progressive Familial Intrahepatic Cholestasis Type 1 Fic1 Deficiency Byler'S Disease Cholestasis, Fatal Intrahepatic Progressive Familial Intrahepatic Cholestasis Severe Atp8b1 Deficiency Fatal Intrahepatic Cholestasis Cholestasis, Intrahepatic, Familial, Progressive, Type 1 Progressive Intrahepatic Cholestasis Cholestasis, Progressive Familial Intrahepatic 3
Diarrhea	Diarrhoea Diarrhea Of Presumed Infectious Origin
Cholestasis	Obstruction Of Bile Duct Bile Duct Obstruction Bile Occlusion Extrahepatic Biliary Obstruction Extrahepatic Bile Duct Obstruction Bile Stasis Biliary Stasis Obstructive Hyperbilirubinemia Obstructed Jaundice Bile Duct Obstructed Bile Ductal Obstruction Biliary Duct Obstruction Obstructed Bile Ductal Obstructed Biliary Duct Obstructed Biliary Ductal Jaundice Regurgitation Obstructive Jaundice Cholestatic Jaundice Cholestatic Jaundice Syndrome
Cholestasis, Progressive Familial Intrahepatic, 5	PFIC5 Progressive Familial Intrahepatic Cholestasis 5 Nr1h4 Deficiency Progressive Familial Intrahepatic Cholestasis Type 5 Cholestasis, Intrahepatic, Familial, Progressive, Type 5
Diarrhea 8, Secretory Sodium, Congenital	Congenital Secretory Sodium Diarrhea 8 DIAR8 Diarrhea, Congenital Sodium Csd Congenital Secretory Diarrhea, Sodium Type
Congenital Diarrhea
Diarrhea 4, Malabsorptive, Congenital	Enteric Anendocrinosis Congenital Malabsorptive Diarrhea 4 DIAR4 Congenital Malabsorptive Diarrhea Due To Paucity Of Enteroendocrine Cells Congenital Malabsorptive Diarrhoea 4 Congenital Malabsorptive Diarrhoea Due To Paucity Of Enteroendocrine Cells Diarrhea, Type 4, Malabsorptive, Congenital
Fanconi Renotubular Syndrome 1	Renal Fanconi Syndrome Adult Fanconi Syndrome FRTS1 Fanconi Renotubular Syndrome Frts Rfs Fanconi Syndrome Without Cystinosis Luder-Sheldon Syndrome
Diarrhea 5, With Tufting Enteropathy, Congenital	Congenital Diarrhea 5 With Tufting Enteropathy Congenital Tufting Enteropathy DIAR5 Cte Intestinal Epithelial Cell Dysplasia Tufting Enteropathy Ied Intestinal Epithelial Dysplasia Enteropathy, Congenital Tufting Congenital Diarrhoea 5 With Tufting Enteropathy Congenital Familial Intractable Diarrhea With Epithelial Or Epithelium Abnormalities Congenital Familial Intractable Diarrhoea With Epithelial Or Epithelium Abnormalities Congenital Enteropathy Congenital Familial Intractable Diarrhea With Enterocytes Assembly Abnormalities Non-Syndromic Congenital Tufting Enteropathy Diarrhea, Type 5, With Tufting Enteropathy, Congenital Intestinal Intraepithelial Neoplasia
Cholestasis, Progressive Familial Intrahepatic, 4	PFIC4 Progressive Familial Intrahepatic Cholestasis 4 Cholestasis, Progressive Familial Intrahepatic 4 Tjp2 Deficit Progressive Familial Intrahepatic Cholestasis-4 3-Beta-Hydroxy-Delta-5-C27-Steroid Oxidoreductase Deficiency Progressive Familial Intrahepatic Cholestasis Type 4 Cholestasis, Intrahepatic, Familial, Progressive, Type 4 Bile Acid Synthesis Defect, Congenital, 1
Cholestasis, Benign Recurrent Intrahepatic, 1	Benign Recurrent Intrahepatic Cholestasis BRIC1 Summerskill Syndrome Bric Summerskill-Walshe-Tygstrup Syndrome Cholestasis, Benign Recurrent Intrahepatic Benign Recurrent Intrahepatic Cholestasis 1 Benign Recurrent Intrahepatic Cholestasis Type 1 Bric Type 1 Low Gamma-Gt Familial Intrahepatic Cholestasis Recurrent Familial Intrahepatic Cholestasis Cholestasis, Benign Recurrent Intrahepatic 1 Mild Atp8b1 Deficiency Recurrent Familial Intrahepatic Cholestasis 1 Abcb11-Related Intrahepatic Cholestasis Atp8b1-Related Intrahepatic Cholestasis Cholestasis, Intrahepatic, Recurrent, Benign, Type 1 Progressive Intrahepatic Cholestasis Cholestasis, Progressive Familial Intrahepatic 3 Bric - [Benign Recurrent Intrahepatic Cholestasis]
Fanconi Syndrome	Infantile Nephropathic Cystinosis Adult Fanconi Syndrome Congenital Fanconi Syndrome De Toni-Fanconi Syndrome Fanconi-De Toni Syndrome Lignac-Fanconi Syndrome Fanconi Renotubular Syndrome Primary Fanconi Renotubular Syndrome De Toni-Debre-Fanconi Syndrome Adult Fanconi Anemia Detoni Fanconi Syndrome Fanconi-De-Toni Syndrome Primary Fanconi Syndrome Detoni-Debre-Fanconi Syndrome Primary Fanconi Renal Syndrome Fanconi Anemia Cystinosis, Infantile Nephropathic Fanconi-Bickel Syndrome Renal Fanconi Syndrome Lowe-Bickel Syndrome
Griscelli Syndrome, Type 1	Griscelli Syndrome Type 1 GS1 Griscelli Syndrome With Neurologic Impairment Partial Albinism And Primary Neurologic Disease Without Hemophagocytic Syndrome Griscelli Syndrome, Cutaneous And Neurologic Type Griscelli-Prunieras Syndrome Type 1 Hypopigmentation-Neurologic Impairment Syndrome Griscelli Syndrome With Neurological Impairment Griscelli Syndrome, Cutaneous And Neurological Type Pigmentary Dilution Of The Skin And Hair, The Presence Of Large Clumps Of Pigment In Hair Shafts Griscelli Syndrome 1 Griscelli Syndrome With Primary Neurologic Impairment
Cholestasis, Progressive Familial Intrahepatic, 3	PFIC3 Cholestasis, Progressive Familial Intrahepatic 3 Mdr3 Deficiency Progressive Familial Intrahepatic Cholestasis Type 3 Progressive Familial Intrahepatic Cholestasis 3 Progressive Familial Intrahepatic Cholestasis With Elevated Serum Gamma-Glutamyltransferase Cholestasis, Progressive Familial Intrahepatic, With Elevated Serum Gamma-Glutamyltransferase Progressive Familial Intrahepatic Cholestasis With Elevated Serum Gama-Glutamyltransferase Cholestasis, Intrahepatic, Familial, Progressive, Type 3
Progressive Familial Intrahepatic Cholestasis	Abcb4-Related Intrahepatic Cholestasis Cholestasis, Progressive Familial Intrahepatic Pfic Byler Disease Abcb11-Related Intrahepatic Cholestasis Atp8b1-Related Intrahepatic Cholestasis Bsep Deficiency Byler Disease Byler Syndrome Fic1 Deficiency Low Γ-Gt Familial Intrahepatic Cholestasis Mdr3 Deficiency Pfic Cholestasis, Intrahepatic, Familial, Progressive Pfic - [Progressive Familial Intrahepatic Cholestasis]
Secretory Diarrhea
Cholestasis, Progressive Familial Intrahepatic, 2	PFIC2 Cholestasis, Progressive Familial Intrahepatic 2 Progressive Familial Intrahepatic Cholestasis Type 2 Progressive Familial Intrahepatic Cholestasis 2 Bsep Deficiency Recurrent Familial Intrahepatic Cholestasis 2 Benign Recurrent Intrahepatic Cholestasis 2 Severe Abcb11 Deficiency Bric2 Cholestasis, Benign Recurrent Intrahepatic 2 Mild Abcb11 Deficiency Cholestasis, Intrahepatic, Familial, Progressive, Type 2
Osmotic Diarrhea
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Familial Intestinal Polyatresia Syndrome Fipa Gastrointestinal Defects And Immunodeficiency Syndrome Multiple Gastrointestinal Atresias Familial Isolated Pituitary Adenoma Intestinal Atresia, Multiple Multiple Intestinal Atresia GIDID1 Multiple Intestinal Atresia And/Or Inflammatory Bowel Disease With Or Without Immunodeficiency Minat Gidid Meddra:10028210 Familial Isolated Pituitary Adenoma Syndrome Intestinal Atresia Multiple Combined Immunodeficiency-Enteropathy Spectrum Cid-Mia/Early-Onset Ibd Intestinal Atresia, Multiple And/Or Inflammatory Bowel Disease With Or Without Immunodeficiency Mia Gastrointestinal Defect And Immunodeficiency Syndrome Pituitary Adenoma Predisposition Pituitary Adenoma, Familial Isolated
Dyslexia
Alstrom Syndrome	ALMS Alström Syndrome Alss Alstrom-Hallgren Syndrome Alstroem Syndrome
Proprotein Convertase 1/3 Deficiency	Obesity Due To Prohormone Convertase I Deficiency Obesity With Impaired Prohormone Processing Obesity And Endocrinopathy Due To Impaired Processing Of Prohormones Pci Deficiency Proprotein Convertase 1 3 Deficiency Endocrinopathy Due To Proprotein Convertase 1/3 Deficiency Proprotein Convertase 1 Deficiency PC1 DEFICIENCY
Lactase Deficiency, Congenital	Congenital Lactase Deficiency Disaccharide Intolerance Ii Congenital Alactasia Congenital Alactasia Syndrome Congenital Lactose Intolerance Congenital Lactose Malabsorption Hereditary Alactasia Alactasia, Congenital Cld COLACD Disaccharide Intolerance Type 2 Cld - [Congenital Lactase Deficiency] Disaccharide Intolerance 2 Lactose Intolerance Of Newborn Hereditary Lactase Deficiency
Immunodeficiency 43	Hypoproteinemia, Hypercatabolic IMD43 Beta-2-Microglobulin Deficiency B2m Deficiency Hypercatabolic Hypoproteinemia
Intrahepatic Cholestasis Of Pregnancy	Recurrent Intrahepatic Cholestasis Of Pregnancy Gravidic Intrahepatic Cholestasis Pregnancy-Related Cholestasis Icp Pregnancy Related Cholestasis Cholestasis, Intrahepatic Of Pregnancy Familial Intrahepatic Cholestasis Of Pregnancy Familial Recurrent Intrahepatic Cholestasis Of Pregnancy Ricp Obstetric Cholestasis
Crigler-Najjar Syndrome, Type I	Crigler-Najjar Syndrome Crigler-Najjar Syndrome Type 1 Bilirubin Udp Glucuronyl Transferase Deficiency Crigler Najjar Syndrome Crigler Najjar Syndrome, Type 1 Bilirubin Uridinediphosphate Glucuronosyltransferase Deficiency Bilirubin-Ugt Deficiency Hyperbilirubinemia, Crigler-Najjar Type I Hblrcn1 Familial Nonhemolytic Unconjugated Hyperbilirubinemia Hereditary Unconjugated Hyperbilirubinemia Bilirubin Uridinediphosphate Glucuronosyltransferase Deficiency Type 1 Bilirubin-Ugt Deficiency Type 1 Crigler-Najjar Syndrome 1 CN1 Cn-I Crigler-Najjar Syndrome Type I Hereditary Unconjugated Hyperbilirubinaemia Ugt Deficiency Bilirubin Glucuronosyltransferase Deficiency Crigler-Najjar Disease Or Syndrome Deficiency Of Glucuronosyltransferase Glucuronyl Transferase Deficiency Glucuronyltransferase Deficiency Udp Glucuronyl Transferase Deficiency Cns - [Crigler-Najjar Syndrome] Congenital Familial Nonhemolytic Jaundice
Cystic Fibrosis	Mucoviscidosis CF Pseudomonas Aeruginosa, Susceptibility To Chronic Infection By, In Cystic Fibrosis Pseudomonas Aeruginosa Chronic Infection By, In Cystic Fibrosis Cystic Fibrosis Lung Disease, Modifier Of Cystic Fibrosis Of Pancreas Fibrocystic Disease Of Pancreas Cf - [Cystic Fibrosis] Cystic Fibrosis Nos Fibrocystic Disease Fibrocystic Disease Of The Pancreas Mucoviscidosis Of Pancreas Nonproliferative Fibrocystic Disease Pancreatic Cystic Fibrosis

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS08947	MYO5B Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-D3304	Cholyl-L-lysine fluorescein disodium		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	MYO5B	VGNC	VGNC:43569
Felis catus	MYO5B	VGNC	VGNC:80456
Rattus norvegicus	MYO5B	RGD	RGD:621347
Macaca mulatta	MYO5B	VGNC	VGNC:84896
Bos taurus	MYO5B	VGNC	VGNC:31827
Mus musculus	MYO5B	MGD	MGI:106598
Others	MYO5B	NCBI