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FLASH GENE
Symbol ISCA2 contributors: mct - updated : 30-05-2018
HGNC name iron-sulfur cluster assembly 2 homolog (S. cerevisiae)
HGNC id 19857
Corresponding disease
MMDS4 multiple mitochondrial dysfunctions syndrome 4
Location 14q24.3      Physical location : 74.960.449 - 74.962.271
Synonym name
  • HESB like domain containing 1
  • iron-sulfur cluster assembly 2 homolog, mitochondrial
    • Synonym symbol(s) c14_5557, HBLD1, ISA2, MMDS4
    DNA
    TYPE functioning gene
    STRUCTURE 1.85 kb     4 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    4 - 1088 16 154 - 2012 22323289
    3 - 972 - 60 - 2012 22323289
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    		HesB-like domain
    HOMOLOGY
    Homologene
    FAMILY
  • hesB/iscA family
    • CATEGORY unknown/unspecified
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria,matrix
    intracellular,cytoplasm,cytosolic
    basic FUNCTION
  • ISCA1, ISCA2, and IBA57 are specifically involved in the maturation of mitochondrial [4Fe-4S] proteins functioning late in the mitochondrial iron-sulfur cluster assembly pathway
  • plays a role in the biogenesis of Fe-S clusters
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • structural plasticity of the dimeric state of the [2Fe-2S] bound form of human GLRX5 (holo hGRX5) is the crucial factor that allows an efficient cluster transfer to the partner proteins ISCA1 and ISCA2 by a specific protein-protein recognition mechanism
  • NFU1, BOLA3, ISCA2 and IBA57 operate in the maturation of [4Fe-4S] clusters, and IBA57 seems to require BOLA3, NFU1 and ISCA2 for its stability
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) MMDS4
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional       loss of function
    diminished mitochondrial membrane potential, the mitochondrial network, basal and maximal respiration, ATP production, and activity of ETC complexes II and IV
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS