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FLASH GENE
Symbol TIMM8B contributors: mct - updated : 17-06-2021
HGNC name translocase of inner mitochondrial membrane 8 homolog B (yeast)
HGNC id 11818
Location 11q23.1      Physical location : 111.955.540 - 111.957.522
Synonym name
  • mitochondrial import inner membrane translocase subunit Tim8 B
  • deafness, dystomia protein 2
  • DDP-like protein
    • Synonym symbol(s) TIM8B, DDP2, FLJ21744, MGC102866, MGC117373, DDPL
    DNA
    TYPE anonymous DNA segment
    STRUCTURE 1.96 kb     2 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Map cen - D11S1347 - TIMM8B - D11S939 - qter
    Authors Jin (99)
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    2 - 780 9.21 83 - 1999 10552927
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   highly
    Digestiveliver    
    Endocrinepancreas    
    Nervousbrain    
    Reproductivemale systemprostate   
    Respiratorylung    
    Urinarykidney    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / Hematopoieticbone marrow   
    Epithelialsecretoryglandularendocrine 
    Epithelialsecretoryglandularexocrine 
    Muscularstriatumskeletal  
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a largely alpha-helical structure
  • one on the N terminal region
  • two cysteine residues
  • one central comprising two cysteine residues
  • a third one and separated from each other by random coil and suggesting a hairpin of helices held together by the cysteine coodination of the Zn2 + ion
    • HOMOLOGY
    interspecies ortholog to yeast S.cerevisiae Tim8p
    ortholog to murine Timm8b
    Homologene
    FAMILY
  • small Tim family
    • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION extracellular
        plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,mitochondria,inner
    intracellular,cytoplasm,organelle,membrane
    basic FUNCTION unknown
    CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling sensory transduction/hearing
    a component
  • component of the Tm complex
    • INTERACTION
    DNA
    RNA
    small molecule metal binding,
  • Zn2+
    • protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral       gain of function
    by diabetes both in colonic tumor and mucosa
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS