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    MYO5B myosin VB [ Homo sapiens (human) ]

    Gene ID: 4645, updated on 3-Nov-2024

    Summary

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    Official Symbol
    MYO5Bprovided by HGNC
    Official Full Name
    myosin VBprovided by HGNC
    Primary source
    HGNC:HGNC:7603
    See related
    Ensembl:ENSG00000167306 MIM:606540; AllianceGenome:HGNC:7603
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    DIAR2; MVID1; PFIC10
    Summary
    The protein encoded by this gene, together with other proteins, may be involved in plasma membrane recycling. Mutations in this gene are associated with microvillous inclusion disease. [provided by RefSeq, Sep 2009]
    Expression
    Broad expression in small intestine (RPKM 15.1), duodenum (RPKM 14.8) and 18 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See MYO5B in Genome Data Viewer
    Location:
    18q21.1
    Exon count:
    40
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (49822789..50195147, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (50024565..50396878, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (47349159..47721517, complement)

    Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 2051 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9451 Neighboring gene acetyl-CoA acyltransferase 2 Neighboring gene small Cajal body-specific RNA 17 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:47371819-47372320 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:47373043-47373544 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr18:47375491-47376690 Neighboring gene small nucleolar RNA host gene 22 Neighboring gene H3K27ac hESC enhancer GRCh37_chr18:47382468-47382968 Neighboring gene H3K27ac hESC enhancer GRCh37_chr18:47382969-47383469 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr18:47405587-47406786 Neighboring gene Sharpr-MPRA regulatory region 7262 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:47430620-47431120 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:47431121-47431621 Neighboring gene RNA, 5S ribosomal pseudogene 457 Neighboring gene uncharacterized LOC124904299 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:47500397-47500898 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:47500899-47501398 Neighboring gene NANOG hESC enhancer GRCh37_chr18:47600579-47601125 Neighboring gene Sharpr-MPRA regulatory region 3103 Neighboring gene adenosine deaminase domain containing 1 pseudogene 2 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr18:47626164-47627363 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr18:47653727-47654926 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9452 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13312 Neighboring gene microRNA 4320 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9453 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9454 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13313 Neighboring gene RNA, 7SL, cytoplasmic 310, pseudogene Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr18:47766185-47767384 Neighboring gene uncharacterized LOC124904300 Neighboring gene cilia and flagella associated protein 53

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Myosin Vb gene is associated with schizophrenia in Chinese Han population. Chen Y, et al. Psychiatry Res, 2013 May 15. PMID 23561489
    2. Novel MYO5B mutation in microvillous inclusion disease of Syrian ancestry. Hassan K, et al. Cold Spring Harb Mol Case Stud, 2022 Feb. PMID 34815247, Free PMC Article
    3. MYO5B-associated diseases: Novel liver-related variants and genotype-phenotype correlation. Wang L, et al. Liver Int, 2022 Feb. PMID 34811877
    4. Loss-of-function of MYO5B is the main cause of microvillus inclusion disease: 15 novel mutations and a CaCo-2 RNAi cell model. Ruemmele FM, et al. Hum Mutat, 2010 May. PMID 20186687
    5. Microvillus inclusion disease: prenatal ultrasound findings, molecular diagnosis and genetic counseling of congenital diarrhea. Chen CP, et al. Taiwan J Obstet Gynecol, 2010 Dec. PMID 21199752

    See all (109) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Coronavirus M Protein Trafficking in Epithelial Cells Utilizes a Myosin Vb Splice Variant and Rab10.
      Title: Coronavirus M Protein Trafficking in Epithelial Cells Utilizes a Myosin Vb Splice Variant and Rab10.
    2. Bioinformatics reveal elevated levels of Myosin Vb in uterine corpus endometrial carcinoma patients which correlates to increased cell metabolism and poor prognosis.
      Title: Bioinformatics reveal elevated levels of Myosin Vb in uterine corpus endometrial carcinoma patients which correlates to increased cell metabolism and poor prognosis.
    3. Myosin Vb as a tumor suppressor gene in intestinal cancer.
      Title: Myosin Vb as a tumor suppressor gene in intestinal cancer.
    4. A Functional Relationship Between UNC45A and MYO5B Connects Two Rare Diseases With Shared Enteropathy.
      Title: A Functional Relationship Between UNC45A and MYO5B Connects Two Rare Diseases With Shared Enteropathy.
    5. MYO5B Gene Mutations: A Not Negligible Cause of Intrahepatic Cholestasis of Infancy With Normal Gamma-Glutamyl Transferase Phenotype.
      Title: MYO5B Gene Mutations: A Not Negligible Cause of Intrahepatic Cholestasis of Infancy With Normal Gamma-Glutamyl Transferase Phenotype.
    6. Myo5b Transports Fibronectin-Containing Vesicles and Facilitates FN1 Secretion from Human Pleural Mesothelial Cells.
      Title: Myo5b Transports Fibronectin-Containing Vesicles and Facilitates FN1 Secretion from Human Pleural Mesothelial Cells.
    7. Novel MYO5B mutation in microvillous inclusion disease of Syrian ancestry.
      Title: Novel MYO5B mutation in microvillous inclusion disease of Syrian ancestry.
    8. MYO5B-associated diseases: Novel liver-related variants and genotype-phenotype correlation.
      Title: MYO5B-associated diseases: Novel liver-related variants and genotype-phenotype correlation.
    9. Mutations in Myosin 5B in Children With Early-onset Cholestasis.
      Title: Mutations in Myosin 5B in Children With Early-onset Cholestasis.
    10. A Molecular Mechanism Underlying Genotype-Specific Intrahepatic Cholestasis Resulting From MYO5B Mutations.
      Title: A Molecular Mechanism Underlying Genotype-Specific Intrahepatic Cholestasis Resulting From MYO5B Mutations.
    Submit: New GeneRIF Correction See all GeneRIFs (48)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Cholestasis, progressive familial intrahepatic, 10
    MedGen: C5676981 OMIM: 619868 GeneReviews: Not available
    		not available
    Congenital microvillous atrophy
    MedGen: C0341306 OMIM: 251850 GeneReviews: Not available
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • KIAA1119

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables actin filament binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables calmodulin binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables microfilament motor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables microfilament motor activity TAS
    Traceable Author Statement
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables small GTPase binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in actin filament organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in endosomal transport IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in protein transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in renal water homeostasis TAS
    Traceable Author Statement
    more info
    		  
    involved_in vesicle transport along actin filament IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in vesicle-mediated transport IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in actin cytoskeleton IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in apical cortex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasmic vesicle membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in extracellular exosome HDA PubMed 
    is_active_in membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of myosin complex IEA
    Inferred from Electronic Annotation
    more info
    		  
    part_of protein-containing complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    colocalizes_with recycling endosome IC
    Inferred by Curator
    more info
    		 PubMed 
    is_active_in vesicle IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_012925.2 RefSeqGene

      Range
      4935..377293
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001080467.3 → NP_001073936.1  unconventional myosin-Vb

      See identical proteins and their annotated locations for NP_001073936.1

      Status: REVIEWED

      Source sequence(s)
      AB290160, AC105224, AK025336, AY274809, BC032511, BX641287, DA350416, Z38208
      Consensus CDS
      CCDS42436.1
      UniProtKB/Swiss-Prot
      B0I1R3, Q0P656, Q9H6Y6, Q9ULV0
      UniProtKB/TrEMBL
      A0A8V8TM52
      Related
      ENSP00000285039.6, ENST00000285039.12
      Conserved Domains (6) summary
      smart00015
      Location:860 → 881
      IQ; Calmodulin-binding motif
      smart00242
      Location:64 → 760
      MYSc; Myosin. Large ATPases
      cd15477
      Location:1474 → 1845
      Myo5b_CBD; Cargo binding domain of myosin 5b
      cd01380
      Location:83 → 749
      MYSc_Myo5; class V myosin, motor domain
      pfam14915
      Location:895 → 1172
      CCDC144C; CCDC144C protein coiled-coil region
      cl23720
      Location:980 → 1080
      RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000018.10 Reference GRCh38.p14 Primary Assembly

      Range
      49822789..50195147 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060942.1 Alternate T2T-CHM13v2.0

      Range
      50024565..50396878 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9ULV0.3 GenPept UniProtKB/Swiss-Prot:Q9ULV0

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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