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FLASH GENE
Symbol IDH3B contributors: mct - updated : 10-12-2020
HGNC name isocitrate dehydrogenase 3 (NAD+) beta
HGNC id 5385
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