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Aliases for MYO5B Gene

Aliases for MYO5B Gene

  • Myosin VB 2 3 5
  • MYO5B Variant Protein 3
  • Myosin-Vb 3
  • KIAA1119 4

External Ids for MYO5B Gene

Previous GeneCards Identifiers for MYO5B Gene

  • GC18U990024
  • GC18M047148
  • GC18M047237
  • GC18M045601
  • GC18M045603
  • GC18M047349
  • GC18M044203

Summaries for MYO5B Gene

Entrez Gene Summary for MYO5B Gene

  • 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]

GeneCards Summary for MYO5B Gene

MYO5B (Myosin VB) is a Protein Coding gene. Diseases associated with MYO5B include microvillus inclusion disease and diarrhea. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Normal wtCFTR traffic / ER-to-Golgi. GO annotations related to this gene include actin binding and Rab GTPase binding. An important paralog of this gene is MYO7B.

UniProtKB/Swiss-Prot for MYO5B Gene

  • May be involved in vesicular trafficking via its association with the CART complex. The CART complex is necessary for efficient transferrin receptor recycling but not for EGFR degradation. Required in a complex with RAB11A and RAB11FIP2 for the transport of NPC1L1 to the plasma membrane. Together with RAB11A participates in CFTR trafficking to the plasma membrane and TF (transferrin) recycling in nonpolarized cells. Together with RAB11A and RAB8A participates in epithelial cell polarization. Together with RAB25 regulates transcytosis.

Gene Wiki entry for MYO5B Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MYO5B Gene

Genomics for MYO5B Gene

Regulatory Elements for MYO5B Gene

Promoters for MYO5B Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around MYO5B on UCSC Golden Path with GeneCards custom track

Genomic Location for MYO5B Gene

Chromosome:
18
Start:
49,822,786 bp from pter
End:
50,195,093 bp from pter
Size:
372,308 bases
Orientation:
Minus strand

Genomic View for MYO5B Gene

Genes around MYO5B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MYO5B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MYO5B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MYO5B Gene

Proteins for MYO5B Gene

  • Protein details for MYO5B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9ULV0-MYO5B_HUMAN
    Recommended name:
    Unconventional myosin-Vb
    Protein Accession:
    Q9ULV0
    Secondary Accessions:
    • B0I1R3
    • Q0P656
    • Q9H6Y6

    Protein attributes for MYO5B Gene

    Size:
    1848 amino acids
    Molecular mass:
    213672 Da
    Quaternary structure:
    • Component of the CART complex, at least composed of ACTN4, HGS/HRS, MYO5B and TRIM3. Interacts with RAB11FIP2, RAB11A, and RAB8A. Found in a complex with CFTR and RAB11A. Interacts with NPC1L1.
    SequenceCaution:
    • Sequence=BAA86433.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for MYO5B Gene

    Alternative splice isoforms for MYO5B Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MYO5B Gene

Proteomics data for MYO5B Gene at MOPED

Post-translational modifications for MYO5B Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MYO5B Gene

No data available for DME Specific Peptides for MYO5B Gene

Domains & Families for MYO5B Gene

Gene Families for MYO5B Gene

Suggested Antigen Peptide Sequences for MYO5B Gene

Graphical View of Domain Structure for InterPro Entry

Q9ULV0

UniProtKB/Swiss-Prot:

MYO5B_HUMAN :
  • Contains 1 dilute domain.
  • Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family.
Domain:
  • Contains 1 dilute domain.
  • Contains 6 IQ domains.
  • Contains 1 myosin motor domain.
Family:
  • Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family.
genes like me logo Genes that share domains with MYO5B: view

Function for MYO5B Gene

Molecular function for MYO5B Gene

UniProtKB/Swiss-Prot Function:
May be involved in vesicular trafficking via its association with the CART complex. The CART complex is necessary for efficient transferrin receptor recycling but not for EGFR degradation. Required in a complex with RAB11A and RAB11FIP2 for the transport of NPC1L1 to the plasma membrane. Together with RAB11A participates in CFTR trafficking to the plasma membrane and TF (transferrin) recycling in nonpolarized cells. Together with RAB11A and RAB8A participates in epithelial cell polarization. Together with RAB25 regulates transcytosis.

Gene Ontology (GO) - Molecular Function for MYO5B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003774 motor activity IEA --
GO:0005524 ATP binding IEA --
GO:0017137 Rab GTPase binding IPI 17462998
genes like me logo Genes that share ontologies with MYO5B: view
genes like me logo Genes that share phenotypes with MYO5B: view

Human Phenotype Ontology for MYO5B Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for MYO5B Gene

MGI Knock Outs for MYO5B:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for MYO5B Gene

Localization for MYO5B Gene

Subcellular locations from UniProtKB/Swiss-Prot for MYO5B Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MYO5B Gene COMPARTMENTS Subcellular localization image for MYO5B gene
Compartment Confidence
extracellular 5
cytoskeleton 4
cytosol 3
nucleus 3
endosome 2
plasma membrane 2
lysosome 1
mitochondrion 1
vacuole 1

No data available for Gene Ontology (GO) - Cellular Components for MYO5B Gene

Pathways & Interactions for MYO5B Gene

genes like me logo Genes that share pathways with MYO5B: view

Gene Ontology (GO) - Biological Process for MYO5B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016192 vesicle-mediated transport IMP 17462998
genes like me logo Genes that share ontologies with MYO5B: view

No data available for SIGNOR curated interactions for MYO5B Gene

Drugs & Compounds for MYO5B Gene

(1) Additional Compounds for MYO5B Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with MYO5B: view

Transcripts for MYO5B Gene

Unigene Clusters for MYO5B Gene

Myosin VB:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for MYO5B Gene

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^ 25a ·
SP1: - -
SP2: -
SP3:
SP4:

ExUns: 25b ^ 26a · 26b ^ 27 ^ 28 ^ 29 ^ 30 ^ 31 ^ 32 ^ 33 ^ 34 ^ 35 ^ 36 ^ 37 ^ 38 ^ 39 ^ 40 ^ 41a · 41b
SP1:
SP2: -
SP3:
SP4:

Relevant External Links for MYO5B Gene

GeneLoc Exon Structure for
MYO5B
ECgene alternative splicing isoforms for
MYO5B

Expression for MYO5B Gene

mRNA expression in normal human tissues for MYO5B Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MYO5B Gene

This gene is overexpressed in Esophagus - Mucosa (x5.9), Minor Salivary Gland (x5.3), and Colon - Transverse (x4.3).

Protein differential expression in normal tissues from HIPED for MYO5B Gene

This gene is overexpressed in Nasal epithelium (24.8) and Cervix (21.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for MYO5B Gene



SOURCE GeneReport for Unigene cluster for MYO5B Gene Hs.720076

genes like me logo Genes that share expression patterns with MYO5B: view

Primer Products

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners for MYO5B Gene

Orthologs for MYO5B Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for MYO5B Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia MYO5B 35
  • 89.43 (n)
  • 91.7 (a)
MYO5B 36
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MYO5B 35
  • 88.96 (n)
  • 91.5 (a)
MYO5B 36
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Myo5b 35
  • 87.15 (n)
  • 90.42 (a)
Myo5b 16
Myo5b 36
  • 90 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia MYO5B 35
  • 99.48 (n)
  • 99.51 (a)
MYO5B 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Myo5b 35
  • 87.1 (n)
  • 90.12 (a)
oppossum
(Monodelphis domestica)
Mammalia MYO5B 36
  • 89 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MYO5B 36
  • 77 (a)
OneToOne
chicken
(Gallus gallus)
Aves MYO5B 36
  • 49 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MYO5B 36
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia myo5b 35
  • 73.24 (n)
  • 78.12 (a)
zebrafish
(Danio rerio)
Actinopterygii myo5b 35
  • 70.45 (n)
  • 72.85 (a)
myo5b 36
  • 72 (a)
OneToMany
myo5b 36
  • 71 (a)
OneToMany
MYO5B (1 of 3) 36
  • 46 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta didum 36
  • 40 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea hum-2 36
  • 35 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MYO2 36
  • 37 (a)
ManyToMany
MYO4 36
  • 34 (a)
ManyToMany
MYO4 38
thale cress
(Arabidopsis thaliana)
eudicotyledons XI-I 35
  • 46.86 (n)
  • 36.34 (a)
rice
(Oryza sativa)
Liliopsida Os02g0777700 35
  • 47.58 (n)
  • 37.86 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes myo52 35
  • 48.61 (n)
  • 43.43 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10542 36
  • 48 (a)
OneToMany
Species with no ortholog for MYO5B:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for MYO5B Gene

ENSEMBL:
Gene Tree for MYO5B (if available)
TreeFam:
Gene Tree for MYO5B (if available)

Paralogs for MYO5B Gene

Paralogs for MYO5B Gene

Pseudogenes.org Pseudogenes for MYO5B Gene

genes like me logo Genes that share paralogs with MYO5B: view

Variants for MYO5B Gene

Sequence variations from dbSNP and Humsavar for MYO5B Gene

SNP ID Clin Chr 18 pos Sequence Context AA Info Type
VAR_054993 Diarrhea 2, with microvillus atrophy (DIAR2)
VAR_054994 Diarrhea 2, with microvillus atrophy (DIAR2)
VAR_054995 Diarrhea 2, with microvillus atrophy (DIAR2)
rs16951438 - 50,055,378(+) TGTGC(A/C)CTGAA reference, missense
rs17659179 - 49,984,743(+) CGAGT(A/C)TTCTC reference, missense

Structural Variations from Database of Genomic Variants (DGV) for MYO5B Gene

Variant ID Type Subtype PubMed ID
nsv516056 CNV Gain 19592680
nsv828229 CNV Gain 20364138
nsv516786 CNV Gain+Loss 19592680
esv1004902 CNV Gain 20482838
nsv909627 CNV Gain 21882294
nsv909628 CNV Loss 21882294
nsv2296 CNV Loss 18451855
dgv3417n71 CNV Loss 21882294
nsv517830 CNV Loss 19592680
nsv909631 CNV Loss 21882294
nsv833650 CNV Loss 17160897
nsv909632 CNV Gain 21882294
nsv518557 CNV Loss 19592680
nsv528145 CNV Loss 19592680
esv24940 CNV Loss 19812545
nsv909633 CNV Loss 21882294
esv23780 CNV Loss 19812545
esv2664969 CNV Deletion 23128226
nsv510740 CNV Loss 20534489
nsv2297 CNV Loss 18451855
esv270918 CNV Insertion 20981092
nsv436237 CNV Deletion 17901297
nsv512532 CNV Loss 21212237
esv3542 CNV Deletion 18987735
esv2717088 CNV Deletion 23290073
nsv498880 CNV Loss 21111241
esv9694 CNV Loss 19470904
dgv550n67 CNV Loss 20364138
nsv819736 CNV Loss 19587683
esv24732 CNV Loss 19812545
nsv514873 CNV Loss 21397061

Variation tolerance for MYO5B Gene

Residual Variation Intolerance Score: 69% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 19.47; 98.87% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MYO5B Gene

HapMap Linkage Disequilibrium report
MYO5B
Human Gene Mutation Database (HGMD)
MYO5B

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MYO5B Gene

Disorders for MYO5B Gene

MalaCards: The human disease database

(5) MalaCards diseases for MYO5B Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
microvillus inclusion disease
  • diarrhea with microvillus atrophy 2
diarrhea
  • diarrhea of presumed infectious origin
secretory diarrhea
eosinophilic gastroenteritis
  • eosinophilic enteropathy
lactose intolerance
  • lm - lactose malabsorption
- elite association - COSMIC cancer census association via MalaCards
Search MYO5B in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

MYO5B_HUMAN
  • Diarrhea 2, with microvillus atrophy (DIAR2) [MIM:251850]: A disease characterized by onset of intractable life-threatening watery diarrhea during infancy. Two forms are recognized: early-onset microvillus inclusion disease with diarrhea beginning in the neonatal period, and late-onset, with first symptoms appearing after 3 or 4 months of life. {ECO:0000269 PubMed:18724368, ECO:0000269 PubMed:19006234, ECO:0000269 PubMed:20186687, ECO:0000269 PubMed:21206382, ECO:0000269 PubMed:24138727, ECO:0000269 PubMed:24892806}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for MYO5B

Genetic Association Database (GAD)
MYO5B
Human Genome Epidemiology (HuGE) Navigator
MYO5B
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MYO5B
genes like me logo Genes that share disorders with MYO5B: view

No data available for Genatlas for MYO5B Gene

Publications for MYO5B Gene

  1. Myosin Vb is required for trafficking of the cystic fibrosis transmembrane conductance regulator in Rab11a-specific apical recycling endosomes in polarized human airway epithelial cells. (PMID: 17462998) Swiatecka-Urban A. … Stanton B.A. (J. Biol. Chem. 2007) 2 3 4 23 67
  2. Requirement of myosin Vb.Rab11a.Rab11-FIP2 complex in cholesterol- regulated translocation of NPC1L1 to the cell surface. (PMID: 19542231) Chu B.-B. … Song B.-L. (J. Biol. Chem. 2009) 3 23
  3. Myosin Vb localises to nucleoli and associates with the RNA polymerase I transcription complex. (PMID: 19610025) Lindsay A.J. … McCaffrey M.W. (Cell Motil. Cytoskeleton 2009) 3 23
  4. Rab11a and myosin Vb are required for bile canalicular formation in WIF-B9 cells. (PMID: 16214890) Wakabayashi Y. … Arias I.M. (Proc. Natl. Acad. Sci. U.S.A. 2005) 3 23
  5. Assessment of Rab11-FIP2 interacting proteins in vitro. (PMID: 16473632) Ducharme N.A. … Goldenring J.R. (Meth. Enzymol. 2005) 3 23

Products for MYO5B Gene

Sources for MYO5B Gene

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