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FLASH GENE
Symbol IDH3B contributors: mct - updated : 10-12-2020
HGNC name isocitrate dehydrogenase 3 (NAD+) beta
HGNC id 5385
Corresponding disease
ARRP17 retinitis pigmentosa autosomal recessive, 17
Location 20p13      Physical location : 2.639.042 - 2.644.843
Synonym name
  • NAD+-specific isocitrate dehydrogenase b subunit
  • isocitric dehydrogenase
    • Synonym symbol(s) FLJ11043, H-IDHB, MGC903, NAD-IDH, RP46
    EC.number 1.1.1.41
    DNA
    TYPE functioning gene
    STRUCTURE 5.82 kb     11 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    RNA
    TRANSCRIPTS type messenger
    text two alternatively spliced isoforms beta 1 (in non muscle tissues) and beta 2 (in heart and skeletal muscle)
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    12 - 1542 - 385 - 2010 20435888
    12 - 1227 - 383 - 2010 20435888
    11 - 1645 - 233 - 2010 20435888
    13 - 1305 - 387 - 2010 20435888
    12 - 1397 - 376 - 2010 20435888
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Lymphoid/Immunetonsils   highly
    Reproductivefemale systemuteruscervix highly
     female systemovary  highly
    Respiratoryrespiratory tractlarynx  highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    HOMOLOGY
    Homologene
    FAMILY
    CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria,matrix
    intracellular,nucleus
    basic FUNCTION
  • involved in the third step of citric acid cycle
  • playing a regulatory role in determining the pH optimum for IDH activity through the tissue-specific alternative splicing
  • is an important regulator of the cell cycle
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) ARRP17
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    in esophageal squamous cell carcinoma (ESCC), IDH3B was posttranslationally upregulated in late G1 phase, and overexpression of IDH3B accelerated G1-S transition, contributing to the promotion of cell proliferation
    Susceptibility to uterine prolapse
    Variant & Polymorphism SNP
  • SNP rs6051098 is associated with uterine prolapse
    • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS