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FLASH GENE
Symbol DNAJC30 contributors: mct/npt - updated : 12-06-2009
HGNC name DnaJ (Hsp40) homolog, subfamily C, member 30
HGNC id 16410
Corresponding disease
WBS Williams Beuren syndrome
Location 7q11.23      Physical location : 73.095.247 - 73.097.781
Synonym name Williams Beuren syndrome chromosome region 18
Synonym symbol(s) MGC12943, WBSCR18
DNA
TYPE functioning gene
STRUCTURE 2.53 kb     1 Exon(s)
MAPPING cloned Y linked N status provisional
regionally located in a region commonly deleted in Williams-Beuren syndrome
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
1 - 2534 26 226 - Merla (2002)
EXPRESSION
Type widely
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
blood / hematopoieticspleen    
Cardiovascularheart   highly
Digestivestomach    
Endocrineparathyroid   highly
Hearing/Equilibriumear   highly
Nervousbrain    
Reproductivemale systemtestis   
Respiratoryrespiratory tractlarynx  highly
Urinarykidney    
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Blood / Hematopoieticbone marrow   
Epithelialsecretoryglandularendocrine 
Epithelialsecretoryglandularexocrine 
Lymphoid    
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period fetal, pregnancy
Text placenta, brain, liver, kidney, heart, lung
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a DNAJ domain
  • a putative C-terminal transmembrane segment
  • HOMOLOGY
    interspecies homolog to murine Wbscr18
    homolog to C.elegans R10h10.1
    Homologene
    FAMILY
  • DNAJ molecular chaperone homology domain-containing protein family
  • CATEGORY chaperone/stress
    SUBCELLULAR LOCALIZATION
    basic FUNCTION
  • DNAJ-like chaperone (Merla 2002)
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) WBS
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS