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FLASH GENE
Symbol MYO18B contributors: mct - updated : 23-08-2014
HGNC name myosin XVIIIB
HGNC id 18150
Corresponding disease
KFS4 Klippel-Feil syndrome 4 with myopathy and facial dysmorphism
Location 22q12.1      Physical location : 26.138.119 - 26.427.007
Synonym symbol(s) CTA-109D1.1, FLJ41942
DNA
TYPE functioning gene
STRUCTURE 315.23 kb     44 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status provisional
Physical map
UPB1 22q11.2 ureidopropionase, beta MGC1842 22q11.2 hypothetical protein MGC1842 SNRPD3 22q11.21 small nuclear ribonucleoprotein D3 polypeptide 18kDa GGT1 22q11.23 gamma-glutamyltransferase 1 LOC388886 22 similar to hypothetical protein LOC192734 LOC343855 22q11.23 similar to POM121 membrane glycoprotein-like 1 LOC391323 22 similar to actin-related protein 2 LOC388887 22 LOC388887 BCRL6 22q11.22 breakpoint cluster region-like 6 TOP1P2 22q11.2-q13.1 topoisomerase (DNA) I pseudogene 2 KIAA1941 22q11.23 KIAA1941 protein LOC255349 22q11.23 hypothetical LOC255349 KIAA1671  KIAA1671 protein CRYBB3 22q11.23 crystallin, beta B3 CRYBB2 22q11.23 crystallin, beta B2 LOC91353 22q11.23 similar to omega protein DKFZp434O0213 22q11.23 hypothetical protein DKFZp434O0213 CRYBB2P1 22q11.23 crystallin, beta B2 pseudogene 1 ADRBK2 22q11.22 adrenergic, beta, receptor kinase 2 YESP 22q11-q12 v-yes-1 Yamaguchi sarcoma viral oncogene homolog pseudogene MYO18B 22q11.2-q12.1 myosin XVIIIB SEZ6L 22q11.21-q12.2 seizure related 6 homolog (mouse)-like FLJ38343 22q12.1 hypothetical protein FLJ38343 LOC391324 22 similar to ribosomal protein S3a; 40S ribosomal protein S3a; v-fos transformation effector protein 1 LOC57168 22q12.1 similar to aspartate beta hydroxylase (ASPH) HPS4 22q11.2-q12.2 Hermansky-Pudlak syndrome 4 TFIP11 22q12.1 tuftelin interacting protein 11 TPST2 22q12.1 tyrosylprotein sulfotransferase 2 HMG1L10 22q12.1 high-mobility group (nonhistone chromosomal) protein 1-like 10 CRYBB1 22q11.22 crystallin, beta B1 CRYBA4 22q12.1 crystallin, beta A4 LOC391325 22 similar to HESB like domain containing 1 LOC388888 22 LOC388888 LOC388889 22 LOC388889
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
44 - 8565 - 2567 - -
EXPRESSION
Type restricted
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularheart   highly
Digestiveliver    
Lymphoid/Immunelymph node    
Nervousnervespinal nervesciatic  
 spinal cord    
Reproductivemale systemtestis   
Visualeye    
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Connectivebone   
Membraneserous membranepericardium  
Muscularstriatumcardiac predominantly Homo sapiens
Muscularstriatumskeletal predominantly Homo sapiens
cells
SystemCellPubmedSpeciesStageRna symbol
Muscularmyocyte Homo sapiens
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a iq domain
  • a myosin head-like domain
  • HOMOLOGY
    Homologene
    FAMILY
    CATEGORY motor/contractile
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm
    intracellular,nucleus
    text
  • localized on the Z-lines of myofibrils in striated muscles
  • basic FUNCTION
  • may regulate muscle-specific genes when in the nucleus and may influence intracellular trafficking when in the cytoplasm
  • a candidate tumor suppressor gene involved in carcinogenesis
  • unique unconventional myosin that is predominantly expressed in myocytes and whose expression is essential for the development and/or maintenance of myofibrillar structure
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting with HOMER2 (enhanced the ability of MYO18B to suppress the anchorage-independent growth of a lung cancer cell line)
  • interacts with the proteasomal subunit PSMC5 and is degraded by the ubiquitin-proteasome pathway
  • cell & other
    REGULATION
    induced by its expression was induced by myogenic differentiation through the binding of myocyte-specific enhancer factor-2 to its promoter
    ASSOCIATED DISORDERS
    corresponding disease(s) KFS4
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral somatic mutation      
    in lung and ovarian carcinoma
    tumoral     --low  
    by hypermethylation in ovarian cancer
    tumoral       loss of function
    in colorectal cancer
    tumoral   LOH    
    in lung cancer
    tumoral     --low  
    by promoter DNA methylation and histone deacetylation, was observed in 70p100 of lung cancers
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
    deficiency of Myo18B caused an embryonic lethality in mice accompanied by disruption of myofibrillar structures in cardiac myocytes at embryonic day 10.5