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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

MYO5B Gene

protein-coding   GIFtS: 56
GCID: GC18M047349

myosin VB
 Explore 5 diseases affiliated with
MYO5B via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for MYO5B    

Aliases
for MYO5B gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Myosin VB1 2
KIAA11191 3 5
MYO5B Variant Protein2
Myosin-Vb1
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


Summaries
for MYO5B gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for MYO5B:
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)

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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000018.9  NC_018929.1  NT_010966.14  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for MYO5B

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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

Proteins
for MYO5B gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
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;
Secondary accessions: B0I1R3

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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9ULV0

    • MYO5B Protein expression data from MOPED and PaxDb:    About this image 
    MYO5B Protein Expression
    REFSEQ proteins: NP_001073936.1  
    ENSEMBL proteins: 
     ENSP00000285039   ENSP00000464776   ENSP00000466368   ENSP00000315531  
    Reactome Protein details: Q9ULV0
    Human Recombinant Protein Products for MYO5B: 
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    Uscn Proteins for MYO5B

    Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016459myosin complex IEA--
    GO:0019717synaptosome ----
    GO:0030659cytoplasmic vesicle membrane TAS--
    GO:0043025neuronal cell body ----
    GO:0043197dendritic spine ----

    MYO5B for ontologies           About GeneDecksing



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    Protein Domains /
    Families
    for MYO5B gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    MYO5B for domains           About GeneDecksing

    4 InterPro domains/families:
     IPR000048 IQ_motif_EF-hand-BS
     IPR018444 Dil_domain
     IPR002710 Dilute
     IPR001609 Myosin_head_motor_dom

    Graphical View of Domain Structure for InterPro Entry Q9ULV0

    ProtoNet protein and cluster: Q9ULV0

    2 Blocks protein families:
    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


    Function
    for MYO5B gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    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): 5/7 molecular function terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000146microfilament motor activity TAS--
    GO:0003779actin binding IEA--
    GO:0005515protein binding IPI19542231
    GO:0005516calmodulin binding IEA--
    GO:0005524ATP 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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    miRNA
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    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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    Pathways & Interactions
    for MYO5B gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Regulation of Water Balance by Renal Aquaporins
    		Regulation of Water Balance by Renal Aquaporins1.00
    		Aquaporin-mediated transport0.84
    2Clathrin-dependent protein traffic
    		Transport_Clathrin-coated vesicle cycle0.66
    		wtCFTR and delta508-CFTR traffic / Generic schema (norm and CF)0.37
    3Translocation of Aquaporin-2 from Intracellular Vesicles to the Apical Plasma Membrane
    		Translocation of Aquaporin-2 from Intracellular Vesicles to the Apical Plasma Membrane1.00
    4wtCFTR and deltaF508 traffic / Membrane expression (norm and CF)
    		wtCFTR and deltaF508 traffic / Membrane expression (norm and CF)1.00
    5SLC-mediated transmembrane transport
    		Transmembrane transport of small molecules0.50

    Pathway sources
    See GeneCards unified pathways
    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

    4        Reactome Pathways for MYO5B
        Transmembrane transport of small molecules
    Aquaporin-mediated transport
    Translocation of Aquaporin-2 from Intracellular Vesicles to the Apical Plasma Membrane
    Regulation of Water Balance by Renal Aquaporins



    MYO5B for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for MYO5B

    STRING Interaction Network Preview (showing 5 interactants - click image to see 13)

    5/148 Interacting proteins for MYO5B (Q9ULV02, 3 ENSP000002850394) via UniProtKB, MINT, STRING, and/or I2D (see all 148)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SMAD3P840222, 3, ENSP000003329734MINT-51243 I2D: score=2 STRING: ENSP00000332973
    CALM1P621583I2D: score=7 
    CALM2P621583I2D: score=7 
    CALM3P621583I2D: score=7 
    COILP384323, ENSP000002403164I2D: score=2 STRING: ENSP00000240316
    About this table

    Gene Ontology (GO): 5 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006833water transport TAS--
    GO:0015031protein transport IEA--
    GO:0016192vesicle-mediated transport IMP17462998
    GO:0032880regulation of protein localization ----
    GO:0055085transmembrane transport TAS--

    MYO5B for ontologies           About GeneDecksing



    Drugs & Compounds
    for MYO5B gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    MYO5B for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for MYO5B
    1 Novoseek 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)

    Search CenterWatch for drugs/clinical trials and news about MYO5B 

    Transcripts
    for MYO5B gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for MYO5B gene: 
    NM_001080467.2  

    Unigene Cluster for MYO5B:

    Myosin VB
    Hs.720076  [show with all ESTs]
    Unigene Representative Sequence: NM_001080467
    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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    8/48 QIAGEN miScript miRNA 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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    Inhib. RNA
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    Clone
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    Additional cDNA sequence: 

    AB032945.2 AB290160.1 AK025336.1 AK092405.1 AK093149.1 AK301976.1 AL133643.1 AY274809.1 
    BC033527.1 

    9 DOTS entries:

    DT.212946  DT.95281870  DT.212947  DT.97855611  DT.121105569  DT.99930327  DT.91777568  DT.121105500 
    DT.121105507 

    24/640 AceView cDNA sequences (see all 640):

    BQ062322 F01416 BX383497 L29143 BM676161 BQ055230 AU118572 AI915899 
    AA384254 CR607062 BM791322 BQ957005 BQ948187 BE793962 AA219466 BE463831 
    BE044634 BX341640 AU121192 CR599438 BM839574 AI392859 BM819540 BQ923113 

    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

    Expression
    for MYO5B gene

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    MYO5B expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: --
    MYO5B Expression
    About this image

    MYO5B expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table

    2 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    Reproductive SystemEarly GonadTestis Somatic CellsTestis
    AdiposeInterscapular Brown Adipose DepotAdipose
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    Extraembryonic endoderm-like cells (Generation of extrae...)

    See MYO5B Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for MYO5B

    SOURCE GeneReport for Unigene cluster: Hs.720076
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              Polycomb & Trithorax Target Genes in human mouse rat

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    In Situ
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    Orthologs
    for MYO5B gene

    (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)
    About This Section
    This gene was present in the common ancestor of eukaryotes.

    Orthologs for MYO5B gene from 7/25 species (see all 25)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    lizard
    (Anolis carolinensis)    		 Reptilia MYO5B6
    		 --
    		 76(a)
    		 1 ↔ 1
    		 2(112686812-112782318)
    zebrafish
    (Danio rerio)    		 Actinopterygii LOC1005365191 myosin-Vb-like 70.45(n)
    72.97(a)    		   100536519  XM_003200867.1  XP_003200915.1 
    fruit fly
    (Drosophila melanogaster)    		 Insecta didum6
    		 dilute class unconventional myosin
    		 40(a)
    		 1 → many
    		 2R(3387660-3396130)
    worm
    (Caenorhabditis elegans)    		 Secernentea hum-26
    		 Heavy chain, Unconventional Myosin family member (...
    		 33(a)
    		 1 → many
    		 V(9386130-9400044)
    baker's yeast
    (Saccharomyces cerevisiae)    		 Saccharomycetes MYO4(YAL029C)4
    MYO41    		 One of two type V myosin motors (along with MYO2) involved more4
    Myo4p1    		 48.18(n)1
    40.14(a)1    		   1(92270-87855)4
    8512041, 4  NP_009373.11, 4 
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons XIC1 myosin motor domain-containing protein and DIL domain-containing more 48.09(n)
    40.79(a)    		   837394  NM_100746.3  NP_172349.2 
    rice
    (Oryza sativa)    		 Liliopsida Os06g04882001 hypothetical protein 47.82(n)
    39.52(a)    		   4341074  NM_001064205.1  NP_001057670.1 


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

    Paralogs
    for MYO5B gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for MYO5B gene
    MYO3A2  MYO9A2  MYO5C2  MYO102  MYO15A2  MYO7A2  MYO9B2  MYO162  
    MYO5A2  MYO7B2  MYO62  MYO3B2  
    18/34 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    MYO7A
    MYO1D    MYH15    MYH9    MYH10    MYH14    DKFZp686A01173

    MYO5B for paralogs           About GeneDecksing


    4 Pseudogenes.org Pseudogenes for MYO5B
    PGOHUM00000235057 PGOHUM00000236170 PGOHUM00000236547 PGOHUM00000236583


    Genomic Variants
    for MYO5B gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/7705 NCBI SNPs in MYO5B are shown (see all 7705)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 18 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs72276111,2
    		C,F--44202979(+) ATCTAT/CAGATC 1 -- ds50011Minor allele frequency- C:0.07WA 118
    rs99472721,2
    		C,A,H--44203206(+) GTTTCG/ATTGAT 1 -- ds50014Minor allele frequency- A:0.00NS EA 418
    rs1998131941,2
    		C--44203619(-) GAATCC/TAACAC 1 -- ut310--------
    rs99476141,2
    		C--44203757(+) CATTTC/GTGATT 1 -- ut310--------
    rs1998307301,2
    		C--44203793(-) TTTTTC/TANNNN 1 -- ut310--------
    rs2021719651,2
    		C--44203809(+) TTTTGC/TATCTA 1 -- ut310--------
    rs99477391,2
    		C--44203852(+) TGTTTC/G/TTCATT 2 -- ut313NA CSA 6
    rs777543781,2
    		C--44204254(+) AAAAGC/GCTTAA 1 -- ut310--------
    rs10464771,2
    		--44204325(-) TAGATG/TTTTTT 1 -- ut312Minor allele frequency- T:0.00MN NA 186
    rs118768591,2
    		C,F,H--44204378(+) GGAACT/GCTAAC 1 -- ut31 ese35Minor allele frequency- G:0.10NA CSA WA 129

    HapMap Linkage Disequilibrium report for MYO5B (47349156 - 47599156 bp, first 250kb of MYO5B)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 15 variations for MYO5B
         11 CNVs: 67356 77881 35574 77882 58833 35575 43537 61621 49999 88836 22609
         4 Indels: 73148 88837 50000 73149
    Human Gene Mutation Database (HGMD): MYO5B

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    Disorders / Diseases
    for MYO5B gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    MYO5B for disorders           About GeneDecksing

    OMIM gene information: 606540   
    OMIM disorders: 251850  
    UniProtKB/Swiss-Prot: MYO5B_HUMAN, Q9ULV0
  • Defects in MYO5B are a cause of diarrhea type 2 (DIAR2) [MIM:251850]. DIAR2 is characterized by onset of
    • intractable life-threatening watery diarrhea during infancy. Two forms are recognized: early-onset MVID with diarrhea
    beginning in the neonatal period, and late-onset, with first symptoms appearing after 3 or 4 months of life

    5 diseases for MYO5B:    About MalaCards
    microvillus inclusion disease    diarrhea    ataxia    cholesterol
    malaria

    Human Genome Epidemiology (HuGE) Navigator: MYO5B (3 documents)

    Export disorders for MYO5B gene to outside databases

    Publications
    for MYO5B gene

    (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)
    About This Section

    PubMed articles for MYO5B gene, integrated from 9 sources (see all 49):
    (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 f ibrosis 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. (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. (2009)
    3. Rab GTPase-Myo5B complexes control membrane recycling and epithelial polarization. (PubMed id 21282656)1, 2 Roland J.T....Goldenring J.R. (2011)
    4. MYO5B mutations cause microvillus inclusion disease and disrupt epithelial cell polarity. (PubMed id 18724368)1, 2 Muller T....Janecke A.R. (2008)
    5. Identification and characterization of a family of Rab11-interacting proteins. (PubMed id 11495908)1, 2 Hales C.M.... Goldenring J.R. (2001)
    6. 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. (1999)
    7. Mapping of unconventional myosins in mouse and human. (PubMed id 8884266)1, 3 Hasson T.... Jenkins N.A. (1996)
    8. 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. (2004)
    9. Myosin Vb localises to nucleoli and associates with t he RNA polymerase I transcription complex. (PubMed id 19610025)1, 9 Lindsay A.J. and McCaffrey M.W. (2009)
    10. Rab11a and myosin Vb are required for bile canalicular formation in WIF-B9 cells. (PubMed id 16214890)1, 9 Wakabayashi Y....Arias I.M. (2005)

    External Searches for MYO5B gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  
      Query String
    		PubMed
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    Genome Databases showing MYO5B gene

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

    Other Databases showing MYO5B gene

    (According to HUGE)
    About This Section
    HUGE: KIAA1119

    Specialized Databases showing MYO5B gene

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

    Intellectual Property
    for MYO5B gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		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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    About This Section

     
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