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] See more...

Aliases for MYO5B Gene

Aliases for MYO5B Gene

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

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 Aquaporin-mediated transport and Delta508-CFTR traffic / ER-to-Golgi in CF. 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 Summary 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 CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MYO5B Gene

Genomics for MYO5B Gene

GeneHancer (GH) Regulatory Elements Pubs

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
GH18J050192 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 257.5 +0.8 849 3 BCLAF1 POLR2A ZIC2 SIN3A ZNF341 CTCF NR2C1 ELF1 SAP130 YY1 MYO5B MBD1 CXXC1 ELAC1 HSALNG0121516 ENSG00000266997
GH18J049848 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE dbSUPER 250 +345.6 345596 2.1 ZNF600 ZIC2 CEBPB DEK ZNF341 MAX EP300 ELF1 RAD21 RFX5 MYO5B ACAA2 ENSG00000252139 SCARNA17 LIPG ENSG00000266997 ENSG00000201668 SNHG22
GH18J049832 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE dbSUPER 254.5 +360.7 360653 5 CEBPA ATF3 YY1 FOXA1 ZEB1 HOMEZ THAP11 FOXA2 KDM6A CTBP1 MYO5B ACAA2 LIPG ENSG00000266997 ENSG00000252139 SNHG22
GH18J049838 Promoter 0.3 EPDnew 250 +357.5 357545 0.1 ENSG00000266997 MYO5B ACAA2 ENSG00000252139 SCARNA17 SNHG22
GH18J049826 Promoter 0.3 EPDnew 250 +368.5 368521 0.1 MYO5B ENSG00000252139 ACAA2 ENSG00000266997 SNHG22
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MYO5B on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MYO5B

Top Transcription factor binding sites by QIAGEN in the MYO5B gene promoter:
  • AREB6
  • NRSF form 1
  • NRSF form 2
  • Roaz

Genomic Locations for MYO5B Gene

Latest Assembly
chr18:49,822,789-50,195,147
(GRCh38/hg38)
Size:
372,359 bases
Orientation:
Minus strand

Previous Assembly
chr18:47,349,159-47,721,517
(GRCh37/hg19 by Entrez Gene)
Size:
372,359 bases
Orientation:
Minus strand

chr18:47,349,183-47,721,463
(GRCh37/hg19 by Ensembl)
Size:
372,281 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; (PubMed:19542231). Interacts with LIMA1 (PubMed:29880681).
    SequenceCaution:
    • Sequence=BAA86433.2; Type=Erroneous initiation; Note=Extended N-terminus.; 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

  • 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

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

Protein Domains for MYO5B Gene

Suggested Antigen Peptide Sequences for MYO5B Gene

GenScript: Design optimal peptide antigens:
  • Myosin-Vb (MYO5B_HUMAN)
  • MYO5B protein (Q0P656_HUMAN)
  • cDNA: FLJ21683 fis, clone COL09335 (Q9H6Y6_HUMAN)

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:
  • Myo5b Myo5b<tm1a(KOMP)Wtsi>

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MYO5B

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 4
cytoskeleton 4
nucleus 3
cytosol 3
plasma membrane 2
mitochondrion 2
endosome 2
lysosome 2
golgi apparatus 2
peroxisome 1
endoplasmic reticulum 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 IBA 21873635
GO:0015629 actin cytoskeleton IBA 21873635
GO:0016459 myosin complex IEA --
GO:0030659 cytoplasmic vesicle membrane TAS --
GO:0031982 vesicle IBA 21873635
genes like me logo Genes that share ontologies with MYO5B: view

Pathways & Interactions for MYO5B Gene

PathCards logo

SuperPathways for MYO5B Gene

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

Pathways by source for MYO5B Gene

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

Gene Ontology (GO) - Biological Process for MYO5B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003091 renal water homeostasis TAS --
GO:0007015 actin filament organization IBA 21873635
GO:0015031 protein transport IEA --
GO:0016192 vesicle-mediated transport IMP 17462998
GO:0016197 endosomal transport 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

mRNA/cDNA for MYO5B Gene

1 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MYO5B

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

Expression for MYO5B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for MYO5B Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MYO5B

SOURCE GeneReport for Unigene cluster for MYO5B Gene:

Hs.720076

Evidence on tissue expression from TISSUES for MYO5B Gene

  • Intestine(4.6)
  • Nervous system(4.5)
  • Kidney(3.1)
  • Eye(2.9)
  • Stomach(2.8)
  • Pancreas(2.7)
  • Skin(2.6)
  • Gall bladder(2.6)
  • Liver(2.6)

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

Germ Layers:
  • endoderm
Systems:
  • digestive
  • immune
Regions:
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 for research

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 29 30
  • 99.48 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia MYO5B 29 30
  • 89.43 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia MYO5B 30
  • 89 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia MYO5B 29 30
  • 88.96 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Myo5b 29 16 30
  • 87.15 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Myo5b 29
  • 87.1 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia MYO5B 30
  • 77 (a)
OneToOne
Chicken
(Gallus gallus)
Aves MYO5B 30
  • 49 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia MYO5B 30
  • 76 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia myo5b 29
  • 73.24 (n)
Zebrafish
(Danio rerio)
Actinopterygii myo5b 29 30 30
  • 70.45 (n)
OneToMany
MYO5B (1 of 3) 30
  • 46 (a)
OneToMany
Fruit Fly
(Drosophila melanogaster)
Insecta didum 30
  • 40 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea hum-2 30
  • 35 (a)
OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MYO2 30 32
  • 37 (a)
ManyToMany
MYO4 30
  • 34 (a)
ManyToMany
Thale Cress
(Arabidopsis thaliana)
eudicotyledons XI-I 29
  • 46.86 (n)
Rice
(Oryza sativa)
Liliopsida Os02g0777700 29
  • 47.58 (n)
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes myo52 29
  • 48.61 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.10542 30
  • 48 (a)
OneToMany
Species where no ortholog for MYO5B was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for MYO5B: view image
Alliance of Genome Resources:
Additional Orthologs for MYO5B

Paralogs for MYO5B Gene

(34) SIMAP similar genes for MYO5B Gene using alignment to 5 proteins:

  • MYO5B_HUMAN
  • K7EIJ6_HUMAN
  • Q0P656_HUMAN
  • Q7Z7A5_HUMAN
  • Q9H6Y6_HUMAN

Pseudogenes.org Pseudogenes for MYO5B Gene

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

Variants for MYO5B Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MYO5B Gene

SNP ID Clinical significance and condition Chr 18 pos Variation AA Info Type
1004962 Uncertain Significance: not provided 49,864,346(-) T/C
NM_001080467.3(MYO5B):c.3638A>G (p.Lys1213Arg)
MISSENSE
1005352 Uncertain Significance: not provided 49,843,260(-) C/T
NM_001080467.3(MYO5B):c.4592G>A (p.Gly1531Asp)
MISSENSE
1006474 Uncertain Significance: not provided 49,863,266(-) TCCTCCTGGTCAA/T
NM_001080467.3(MYO5B):c.3893_3904del (p.Val1298_Glu1301del)
INFRAME_DELETION
1007669 Uncertain Significance: not provided 49,902,791(-) G/A
NM_001080467.3(MYO5B):c.2614C>T (p.Arg872Trp)
MISSENSE
1010514 Uncertain Significance: not provided 49,895,065(-) C/G
NM_001080467.3(MYO5B):c.2921G>C (p.Gly974Ala)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for MYO5B Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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
Leiden Open Variation Database (LOVD)
MYO5B

SNP Genotyping and Copy Number Assays for research

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

Disorders for MYO5B Gene

MalaCards: The human disease database

(22) MalaCards diseases for MYO5B Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

- 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 variants affecting the gene represented in this entry.

Additional Disease Information for MYO5B

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
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
  2. Loss-of-function of MYO5B is the main cause of microvillus inclusion disease: 15 novel mutations and a CaCo-2 RNAi cell model. (PMID: 20186687) Ruemmele FM … Huber LA (Human mutation 2010) 3 4 72
  3. 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
  4. MYO5B mutations cause microvillus inclusion disease and disrupt epithelial cell polarity. (PMID: 18724368) Müller T … Janecke AR (Nature genetics 2008) 3 4 72
  5. MYO5B mutations cause cholestasis with normal serum gamma-glutamyl transferase activity in children without microvillous inclusion disease. (PMID: 27532546) Gonzales E … Jacquemin E (Hepatology (Baltimore, Md.) 2017) 3 72

Products for MYO5B Gene

Sources for MYO5B Gene