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MYO5B Gene

protein-coding   GIFtS: 56
GCID: GC18M047349

Myosin VB

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Myosin VB1 2
KIAA11193 5
MYO5B Variant Protein2
myosin-Vb2
Unconventional Myosin-Vb2

External Ids:    HGNC: 76031   Entrez Gene: 46452   Ensembl: ENSG000001673067   OMIM: 6065405   UniProtKB: Q9ULV03   

Export aliases for MYO5B gene to outside databases

Previous GC identifers: GC18U990024 GC18M047148 GC18M047237 GC18M045601 GC18M045603 GC18M044203


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 with microvillus atrophy 2. GO annotations related to this gene include actin binding and Rab GTPase binding. An important paralog of this gene is MYO3A.

UniProtKB/Swiss-Prot: MYO5B_HUMAN, Q9ULV0
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 (By
similarity)

Gene Wiki entry for MYO5B Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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Regulatory elements:
   Regulatory transcription factor binding sites in the MYO5B gene promoter:
         AREB6   NRSF form 1   NRSF form 2   Roaz   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for MYO5B

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MYO5B


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 18q21   Ensembl cytogenetic band:  18q21.1   HGNC cytogenetic band: 18q

MYO5B Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MYO5B gene location

GeneLoc information about chromosome 18         GeneLoc Exon Structure

GeneLoc location for GC18M047349:  view genomic region     (about GC identifiers)

Start:
47,349,156 bp from pter      End:
47,721,463 bp from pter
Size:
372,308 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: MYO5B_HUMAN, Q9ULV0 (See protein sequence)
Recommended Name: Unconventional myosin-Vb  
Size: 1848 amino acids; 213672 Da
Subunit: 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
Sequence caution: Sequence=BAA86433.2; Type=Erroneous initiation; Note=Translation N-terminally shortened;
4 PDB 3D structures from and Proteopedia for MYO5B:
4J5M (3D)        4LNZ (3D)        4LWZ (3D)        4LX0 (3D)    
Secondary accessions: B0I1R3

Explore the universe of human proteins at neXtProt for MYO5B: NX_Q9ULV0

Explore proteomics data for MYO5B at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See MYO5B Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001073936.1  
    ENSEMBL proteins: 
     ENSP00000285039   ENSP00000464776   ENSP00000466368   ENSP00000315531  
    Reactome Protein details: Q9ULV0

    MYO5B Human Recombinant Protein Products:

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    MYOV: Myosins / Myosin superfamily : Class V

    5 InterPro protein domains:
     IPR018444 Dil_domain
     IPR002710 Dilute
     IPR027417 P-loop_NTPase
     IPR000048 IQ_motif_EF-hand-BS
     IPR001609 Myosin_head_motor_dom

    Graphical View of Domain Structure for InterPro Entry Q9ULV0

    ProtoNet protein and cluster: Q9ULV0

    2 Blocks protein domains:
    IPB000048 IQ calmodulin-binding region
    IPB002710 Dilute (DIL) domain


    UniProtKB/Swiss-Prot: MYO5B_HUMAN, Q9ULV0
    Similarity: Contains 1 dilute domain
    Similarity: Contains 6 IQ domains
    Similarity: Contains 1 myosin head-like domain


    MYO5B for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: MYO5B_HUMAN, Q9ULV0
    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 (By
    similarity)

         Gene Ontology (GO): Selected molecular function terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000146microfilament motor activity TAS--
    GO:0003774motor activity ----
    GO:0003779actin binding IEA--
    GO:0005515protein binding IPI19542231
    GO:0005516calmodulin binding IEA--
         
    MYO5B for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for MYO5B:
     Decreased BPV1 E2 protein expr  Increased HPV18 LCR reporter a 

    Animal Models:
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    Selected qRT-PCR Assays for microRNAs that regulate MYO5B (see all 48):
    hsa-miR-3164 hsa-let-7d hsa-miR-106a hsa-miR-1260b hsa-miR-624* hsa-miR-519a hsa-miR-548l hsa-let-7g
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat MYO5B

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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton3
    cytosol3
    endosome2
    nucleus2
    plasma membrane2
    mitochondrion1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016459myosin complex IEA--
    GO:0030659cytoplasmic vesicle membrane TAS--
    GO:0043234protein complex IDA17462998
    GO:0070062extracellular vesicular exosome IDA19056867

    MYO5B for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for MYO5B About    
    See pathways by source

    SuperPathContained pathways About
    1Regulation of Water Balance by Renal Aquaporins
    Regulation of Water Balance by Renal Aquaporins0.85
    Aquaporin-mediated transport0.85
    2Clathrin dependent protein traffic
    Transport Clathrin coated vesicle cycle0.66
    wtCFTR and delta508 CFTR traffic Generic schema norm and CF 0.37
    3Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds
    Transmembrane transport of small molecules0.47
    4Regulation of CFTR activity norm and CF
    wtCFTR and deltaF508 traffic Membrane expression norm and CF 0.38

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    3 GeneGo (Thomson Reuters) Pathways for MYO5B
        wtCFTR and delta508-CFTR traffic / Generic schema (norm and CF)
    wtCFTR and deltaF508 traffic / Membrane expression (norm and CF)
    Transport Clathrin-coated vesicle cycle

    1 Reactome Pathway for MYO5B
        Regulation of water balance by renal Aquaporins



    MYO5B for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including MYO5B: 
              Polycomb & Trithorax Target Genes in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for MYO5B

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for MYO5B (Q9ULV02, 3 ENSP000002850394) via UniProtKB, MINT, STRING, and/or I2D (see all 246)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SMAD3P840222, 3, ENSP000003329734MINT-51243 I2D: score=2 STRING: ENSP00000332973
    ENSG00000096171P266403I2D: score=1 
    ENSG00000224264P266403I2D: score=1 
    ENSG00000226589P266403I2D: score=1 
    ENSG00000231116P266403I2D: score=1 
    About this table

    Gene Ontology (GO): 5 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006833water transport TAS--
    GO:0008152metabolic process TAS--
    GO:0015031protein transport IEA--
    GO:0016192vesicle-mediated transport IMP17462998
    GO:0055085transmembrane transport TAS--

    MYO5B for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for MYO5B

    1 Novoseek inferred chemical compound relationship for MYO5B gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    adp 24.6 1 14766983 (1)



    MYO5B for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for MYO5B gene: 
    NM_001080467.2  

    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000285039(uc002ldz.3 uc002lea.2 uc002leb.2 uc021ukb.1)
    ENST00000592779 ENST00000592688 ENST00000587895 ENST00000589568 ENST00000585859
    ENST00000586036 ENST00000324581
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate MYO5B (see all 48):
    hsa-miR-3164 hsa-let-7d hsa-miR-106a hsa-miR-1260b hsa-miR-624* hsa-miR-519a hsa-miR-548l hsa-let-7g
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      QuantiFast Probe-based Assays in human, mouse, rat MYO5B

    Selected AceView cDNA sequences (see all 640):

    F01445 BU543091 BQ890068 BM819540 AW052130 AL517117 BX383497 AW248532 
    AW337148 BQ062322 BQ231316 AI468030 AV653212 BE748454 BM844087 AL133643 
    Z38208 AW149318 CN480734 AA219282 BF724595 AK054673 BQ436795 F01416 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for MYO5B    About this scheme

    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:                                                                                                                  


    ECgene alternative splicing isoforms for MYO5B

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    MYO5B expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    MYO5B Expression
    About this image


    MYO5B expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 11) fully expand
     
     Kidney (Urinary System)    fully expand to see all 2 entries
             Ureteric Bud Cells Ureteric Bud
     
     Liver (Hepatobiliary System)    fully expand to see all 2 entries
             Hepatocytes Liver Lobule
     
     Epithelial Cells
             Fetal Matrix Cells Hair Follicle
     
     Gonad (Reproductive System)
             Testis Somatic Cells Primitive Gonad
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
    MYO5B Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    MYO5B Protein Expression
        Pathway & Disease-focused RT2 Profiler PCR Array including MYO5B: 
              Polycomb & Trithorax Target Genes in human mouse rat

    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MYO5B

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for MYO5B gene from Selected species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Myo5b1 , 5 myosin VB1, 5 87.15(n)1
    90.42(a)1
      18 (50.70 cM)5
    179191  NM_201600.21  NP_963894.11 
     744409365 
    chicken
    (Gallus gallus)
    Aves MYO5B6
    myosin VB
    49(a)
    1 ↔ 1
    28(1127912-1139249)
    lizard
    (Anolis carolinensis)
    Reptilia MYO5B6
    myosin VB
    76(a)
    1 ↔ 1
    2(112686812-112782318)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia myo5b1 myosin VB 73.24(n)
    78.12(a)
      100379760  XM_002936508.2  XP_002936554.2 
    zebrafish
    (Danio rerio)
    Actinopterygii myo5b1 myosin VB 70.45(n)
    72.85(a)
      567402  NM_001161632.1  NP_001155104.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta didum6
    dilute class unconventional myosin
    40(a)
    1 → many
    2R(3387660-3396130)
    worm
    (Caenorhabditis elegans)
    Secernentea hum-26
    Protein HUM-2, isoform b
    35(a)
    1 → many
    V(9386154-9400068) WBGene00002036
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes MYO4(YAL029C)4 One of two type V myosin motors (along with MYO2) involved more   --   1(92270-87855) 851204  NP_009373.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons XI-I1 XI-I 46.86(n)
    36.34(a)
      829456  NM_119474.4  NP_195046.3 
    rice
    (Oryza sativa)
    Liliopsida Os02g07777001 Os02g0777700 47.58(n)
    37.86(a)
      4330906  NM_001054826.2  NP_001048291.2 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for MYO5B gene
    MYO3A2  MYO9A2  MYO5C2  MYO102  MYO7A2  MYO162  MYO9B2  MYO5A2  
    MYO7B2  PLEKHH32  MYO62  MYO3B2  
    Selected SIMAP similar genes for MYO5B using alignment to 5 protein entries:     MYO5B_HUMAN (see all proteins) (see all similar genes):
    MYO5A    MYO5C    MYO1E    MYH13    MYH6    MYH7
    MYO1F variant protein    MYH11    MYH3    MYO15A    MYO1B    MYO1D
    MYH15    MYH9    MYO7A    MYH14    MYH10    DKFZp686A01173

    MYO5B for paralogs           About GeneDecksing


    4 Pseudogenes.org Pseudogenes for MYO5B
    PGOHUM00000235057 PGOHUM00000236170 PGOHUM00000236547 PGOHUM00000236583


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for MYO5B (see all 9184)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 18 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0549934
    Diarrhea 2, with microvillus atrophy (DIAR2)4--see VAR_0549932 V G mis40--------
    VAR_0549954
    Diarrhea 2, with microvillus atrophy (DIAR2)4--see VAR_0549952 R C mis40--------
    VAR_0549944
    Diarrhea 2, with microvillus atrophy (DIAR2)4--see VAR_0549942 R H mis40--------
    rs339747241,2
    C--44272628(+) CAAGT-/CAAGCC 1 -- int10--------
    rs114443271,2
    C--44327289(+) CTGGAT/-ATCAA 1 -- int11Minor allele frequency- -:0.00CSA 2
    rs339183831,2
    C--44327603(+) ATTAT-/CGGTTC 1 -- int10--------
    rs3775193311,2
    C--44329036(+) TTTTTT/-GGAAG 1 -- int11Minor allele frequency- -:0.00NA 2
    rs772505461,2
    C--44337863(+) TGTACA/TCTCTC 1 -- int10--------
    rs1386305221,2
    C--44361440(+) TTTAA-/CTTCTC 1 -- int10--------
    rs2015909361,2
    C--44361440(+) TTTAAA/CTTCTC 1 -- int10--------

    HapMap Linkage Disequilibrium report for MYO5B (47349156 - 47599156 bp, first 250kb of MYO5B)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for MYO5B (see all 31):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2717088CNV Deletion23290073
    esv3542CNV Deletion18987735
    nsv436237CNV Deletion17901297
    esv2664969CNV Deletion23128226
    esv270918CNV Insertion20981092
    nsv528145CNV Loss19592680
    nsv2296CNV Loss18451855
    nsv909628CNV Loss21882294
    nsv2297CNV Loss18451855
    nsv512532CNV Loss21212237

    Human Gene Mutation Database (HGMD): MYO5B
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing MYO5B
    DNA2.0 Custom Variant and Variant Library Synthesis for MYO5B

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 606540   
    OMIM disorders: 251850  
    UniProtKB/Swiss-Prot: MYO5B_HUMAN, Q9ULV0
  • 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. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 16 diseases for MYO5B:    
    About MalaCards
    microvillus inclusion disease    diarrhea with microvillus atrophy 2    diarrhea    fanconi syndrome
    bipolar disorder    cystic fibrosis    ataxia    tonsillitis
    hiv-1    endotheliitis    hepatitis    thyroiditis
    multiple myeloma    myeloma    neuronitis    prostatitis


    MYO5B for disorders           About GeneDecksing

    Genetic Association Database (GAD): MYO5B
    Human Genome Epidemiology (HuGE) Navigator: MYO5B (3 documents)

    Export disorders for MYO5B gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for MYO5B gene, integrated from 10 sources (see all 58):
    (articles sorted by number of sources associating them with MYO5B)
        Utopia: connect your pdf to the dynamic
    world of online information

    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. (PubMed id 17462998)1, 2, 3, 9 Swiatecka-Urban A.... Stanton B.A. (J. Biol. Chem. 2007)
    2. Requirement of myosin Vb.Rab11a.Rab11-FIP2 complex in cholesterol- regulated translocation of NPC1L1 to the cell surface. (PubMed id 19542231)1, 2, 9 Chu B.-B....Song B.-L. (J. Biol. Chem. 2009)
    3. Rab GTPase-Myo5B complexes control membrane recycling and epithelial polarization. (PubMed id 21282656)1, 2 Roland J.T....Goldenring J.R. (Proc. Natl. Acad. Sci. U.S.A. 2011)
    4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    5. MYO5B mutations cause microvillus inclusion disease and disrupt epithelial cell polarity. (PubMed id 18724368)1, 2 Mueller T.... Janecke A.R. (Nat. Genet. 2008)
    6. Identification and characterization of a family of Rab11-interacting proteins. (PubMed id 11495908)1, 2 Hales C.M.... Goldenring J.R. (J. Biol. Chem. 2001)
    7. Characterization of cDNA clones selected by the GeneMark analysis from size-fractionated cDNA libraries from human brain. (PubMed id 10574461)1, 2 Hirosawa M.... Ohara O. (DNA Res. 1999)
    8. Mapping of unconventional myosins in mouse and human. (PubMed id 8884266)1, 3 Hasson T.... Jenkins N.A. (Genomics 1996)
    9. Rab11-family interacting protein 2 and myosin Vb are required for CXCR2 recycling and receptor-mediated chemotaxis. (PubMed id 15004234)1, 9 Fan G.H....Richmond A. (Mol. Biol. Cell 2004)
    10. Myosin Vb localises to nucleoli and associates with the RNA polymerase I transcription complex. (PubMed id 19610025)1, 9 Lindsay A.J. and McCaffrey M.W. (Cell Motil. Cytoskeleton 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 4645 HGNC: 7603 AceView: ACAA2andMYO5B Ensembl:ENSG00000167306 euGenes: HUgn4645
    ECgene: MYO5B H-InvDB: MYO5B

    (According to HUGE)
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    HUGE: KIAA1119

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for MYO5B Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for MYO5B gene:
    Search GeneIP for patents involving MYO5B

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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