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Aliases for MYO5B Gene

Aliases for MYO5B Gene

  • Myosin VB 2 3 5
  • Unconventional Myosin-Vb 3
  • 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 Diarrhea 2, With Microvillus Atrophy and Myo5b-Related Progressive Familial Intrahepatic Cholestasis. Among its related pathways are Delta508-CFTR traffic / ER-to-Golgi in CF and Aquaporin-mediated transport. Gene Ontology (GO) annotations related to this gene include actin binding and Rab GTPase binding. An important paralog of this gene is MYO5A.

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

Additional gene information for MYO5B Gene

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

Genomics for MYO5B Gene

GeneHancer (GH) Regulatory Elements for MYO5B Gene

Promoters and enhancers for MYO5B Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH18I050192 Promoter/Enhancer 2 EPDnew Ensembl ENCODE dbSUPER 557.6 +0.8 802 3 RB1 KLF5 RAD21 ZNF335 GLIS2 ZNF143 IKZF2 BCLAF1 SMARCA5 ZNF398 MYO5B MBD1 CXXC1 ELAC1 GC18P050165
GH18I050153 Enhancer 0.7 ENCODE 19 +40.3 40291 1.6 MAX CEBPG ZNF644 RAD21 YY1 HNF4G HOMEZ MAFK MIXL1 GATAD2A MYO5B LIPG GC18P050165 MIR4320
GH18I050099 Enhancer 1 FANTOM5 ENCODE 7.3 +95.0 94970 1.4 PKNOX1 FEZF1 BATF IRF4 ZNF366 ATF7 ETV6 FOS BCLAF1 IKZF2 ENSG00000267591 MYO5B MBD1 MIR4320
GH18I049832 Enhancer 1.3 Ensembl ENCODE dbSUPER 4.5 +360.6 360599 5 FOXA2 ARID4B ETS1 YY1 ATF7 FOS KLF13 RXRA REST PPARG ACAA2 LIPG MYO5B ENSG00000266997 ENSG00000252139 SNHG22
GH18I050157 Enhancer 0.8 FANTOM5 ENCODE 7.2 +35.0 34966 5.2 SMARCE1 NCOA3 PKNOX1 FOXA2 SIN3A DPF2 ATF2 FOXA1 ZNF217 CTBP1 MYO5B RPL17 GC18P050165 MIR4320
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around MYO5B on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the MYO5B gene promoter:

Genomic Locations for MYO5B Gene

Genomic Locations for MYO5B Gene
chr18:49,822,786-50,195,093
(GRCh38/hg38)
Size:
372,308 bases
Orientation:
Minus strand
chr18:47,349,156-47,721,463
(GRCh37/hg19)

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

Post-translational modifications for MYO5B Gene

No Post-translational modifications

Other Protein References for MYO5B Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for MYO5B Gene

Domains & Families for MYO5B Gene

Gene Families for MYO5B Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for MYO5B Gene

Graphical View of Domain Structure for InterPro Entry

Q9ULV0

UniProtKB/Swiss-Prot:

MYO5B_HUMAN :
  • Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family.
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.

Phenotypes From GWAS Catalog for MYO5B Gene

Gene Ontology (GO) - Molecular Function for MYO5B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000146 microfilament motor activity TAS --
GO:0000166 nucleotide binding IEA --
GO:0003774 motor activity IEA --
GO:0003779 actin binding IEA --
GO:0005515 protein binding IPI 19542231
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:

Inhibitory RNA 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MYO5B gene
Compartment Confidence
extracellular 5
cytoskeleton 5
nucleus 3
cytosol 3
plasma membrane 2
endosome 2
mitochondrion 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for MYO5B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0016459 myosin complex IEA --
GO:0030659 cytoplasmic vesicle membrane TAS --
GO:0043234 protein complex IDA 17462998
GO:0045179 apical cortex IDA 21206382
genes like me logo Genes that share ontologies with MYO5B: view

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:0003091 renal water homeostasis TAS --
GO:0006810 transport IEA --
GO:0015031 protein transport IEA --
GO:0016192 vesicle-mediated transport IMP 17462998
GO:0032439 endosome localization IMP 21206382
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:

CRISPR Products

Inhibitory RNA Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for MYO5B Gene



NURSA nuclear receptor signaling pathways regulating expression of MYO5B Gene:

MYO5B

SOURCE GeneReport for Unigene cluster for MYO5B Gene:

Hs.720076

Evidence on tissue expression from TISSUES for MYO5B Gene

  • Intestine(4.7)
  • Nervous system(4.3)
  • Kidney(2.8)
  • Stomach(2.5)
  • Eye(2.3)
  • Gall bladder(2.2)
  • Liver(2.2)
  • Pancreas(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for MYO5B Gene

Germ Layers:
  • endoderm
Systems:
  • digestive
  • immune
Organs:
Abdomen:
  • intestine
  • large intestine
  • small intestine
General:
  • blood
  • white blood cell
genes like me logo Genes that share expression patterns with MYO5B: view

Primer Products

No data available for Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt 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
chimpanzee
(Pan troglodytes)
Mammalia MYO5B 34 33
  • 99.48 (n)
OneToOne
cow
(Bos Taurus)
Mammalia MYO5B 33 34
  • 89.43 (n)
oppossum
(Monodelphis domestica)
Mammalia MYO5B 34
  • 89 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MYO5B 33 34
  • 88.96 (n)
mouse
(Mus musculus)
Mammalia Myo5b 33 16 34
  • 87.15 (n)
rat
(Rattus norvegicus)
Mammalia Myo5b 33
  • 87.1 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia MYO5B 34
  • 77 (a)
OneToOne
chicken
(Gallus gallus)
Aves MYO5B 34
  • 49 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MYO5B 34
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia myo5b 33
  • 73.24 (n)
zebrafish
(Danio rerio)
Actinopterygii myo5b 33 34 34
  • 70.45 (n)
MYO5B (1 of 3) 34
  • 46 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta didum 34
  • 40 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea hum-2 34
  • 35 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MYO2 34
  • 37 (a)
ManyToMany
MYO4 34 36
  • 34 (a)
ManyToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons XI-I 33
  • 46.86 (n)
rice
(Oryza sativa)
Liliopsida Os02g0777700 33
  • 47.58 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes myo52 33
  • 48.61 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10542 34
  • 48 (a)
OneToMany
Species where no ortholog for MYO5B was found in the sources mined by GeneCards:
  • 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

Variants for MYO5B Gene

Sequence variations from dbSNP and Humsavar for MYO5B Gene

SNP ID Clin Chr 18 pos Variation AA Info Type
rs1053713532 2, with microvillus atrophy (DIAR2) [MIM:251850] 49,992,388(-) C/T coding_sequence_variant, missense_variant
rs11082795 benign, Diarrhea with Microvillus Atrophy 49,974,466(-) G/A/T coding_sequence_variant, missense_variant, synonymous_variant
rs111319402 benign, Diarrhea with Microvillus Atrophy 49,824,550(-) C/G 3_prime_UTR_variant
rs111994054 uncertain-significance, Diarrhea with Microvillus Atrophy 49,824,857(-) A/G 3_prime_UTR_variant
rs111999307 likely-benign, Diarrhea with Microvillus Atrophy 50,194,891(-) G/A 5_prime_UTR_variant

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

Variant ID Type Subtype PubMed ID
dgv1601n106 CNV deletion 24896259
dgv550n67 CNV loss 20364138
dgv5926n54 CNV loss 21841781
dgv5927n54 CNV loss 21841781
dgv5928n54 CNV loss 21841781
dgv986e212 CNV loss 25503493
esv1004902 CNV gain 20482838
esv23780 CNV loss 19812545
esv24732 CNV loss 19812545
esv24940 CNV loss 19812545
esv2656239 CNV loss 23635498
esv2656396 CNV loss 23635498
esv2664969 CNV deletion 23128226
esv2717088 CNV deletion 23290073
esv3306642 CNV mobile element insertion 20981092
esv3344976 CNV insertion 20981092
esv3346819 CNV insertion 20981092
esv3370146 CNV duplication 20981092
esv3388127 CNV duplication 20981092
esv3542 CNV loss 18987735
esv3555374 CNV deletion 23714750
esv3583056 CNV loss 25503493
esv3583057 CNV loss 25503493
esv3642501 CNV loss 21293372
esv3642504 CNV loss 21293372
esv3642506 CNV loss 21293372
esv9694 CNV loss 19470904
nsv1057599 CNV gain 25217958
nsv1058554 CNV gain 25217958
nsv1070186 CNV deletion 25765185
nsv1138624 CNV deletion 24896259
nsv1146424 CNV deletion 26484159
nsv2296 CNV deletion 18451855
nsv2297 CNV deletion 18451855
nsv436237 CNV deletion 17901297
nsv477922 CNV novel sequence insertion 20440878
nsv498880 CNV loss 21111241
nsv510740 CNV deletion 20534489
nsv512532 CNV loss 21212237
nsv514873 CNV loss 21397061
nsv516056 CNV gain 19592680
nsv516786 CNV gain+loss 19592680
nsv517830 CNV loss 19592680
nsv518557 CNV loss 19592680
nsv528145 CNV loss 19592680
nsv576863 CNV gain 21841781
nsv576865 CNV loss 21841781
nsv576866 CNV loss 21841781
nsv576867 CNV loss 21841781
nsv576884 CNV gain+loss 21841781
nsv576888 CNV loss 21841781
nsv819736 CNV loss 19587683
nsv828229 CNV gain 20364138
nsv833650 CNV loss 17160897
nsv953540 CNV deletion 24416366
nsv954924 CNV deletion 24416366
nsv960280 CNV duplication 23825009
nsv962880 CNV duplication 23825009
nsv978630 CNV duplication 23825009

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)

Additional Variant Information for MYO5B Gene

Human Gene Mutation Database (HGMD)
MYO5B
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MYO5B

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

Disorders for MYO5B Gene

MalaCards: The human disease database

(7) MalaCards diseases for MYO5B Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

- 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.

Additional Disease Information for MYO5B

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 BA (The Journal of biological chemistry 2007) 2 3 4 22 58
  2. Requirement of myosin Vb.Rab11a.Rab11-FIP2 complex in cholesterol-regulated translocation of NPC1L1 to the cell surface. (PMID: 19542231) Chu BB … Song BL (The Journal of biological chemistry 2009) 3 4 22 58
  3. Microvillus inclusion disease: loss of Myosin vb disrupts intracellular traffic and cell polarity. (PMID: 24138727) Thoeni CE … Huber LA (Traffic (Copenhagen, Denmark) 2014) 3 4 58
  4. Myosin Vb uncoupling from RAB8A and RAB11A elicits microvillus inclusion disease. (PMID: 24892806) Knowles BC … Shub MD (The Journal of clinical investigation 2014) 3 4 58
  5. Functional characterization of mutations in the myosin Vb gene associated with microvillus inclusion disease. (PMID: 21206382) Szperl AM … van IJzendoorn SC (Journal of pediatric gastroenterology and nutrition 2011) 3 4 58

Products for MYO5B Gene

Sources for MYO5B Gene

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