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FLASH GENE
Symbol CISD2 contributors: mct - updated : 02-12-2014
HGNC name CDGSH iron sulfur domain 2
HGNC id 24212
Corresponding disease
WFS2 Wolfram syndrome 2
Location 4q24      Physical location : 103.790.134 - 103.813.961
Synonym name
  • mitoNEET related 1
  • zinc finger, CDGSH-type domain 2
  • endoplasmic reticulum intermembrane small protein
  • nutrient-deprivation autophagy factor-1
  • Synonym symbol(s) Miner1, ZCD2, ERIS, CDGSH2, STING, MITA, NAF-1, WFS2
    DNA
    TYPE functioning gene
    STRUCTURE 19.59 kb     3 Exon(s)
    MAPPING cloned Y linked Y status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    3 - 1840 15.15 135 - Amr (2007)
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   highly
    Endocrineadrenal gland   highly
    Urinarybladder   highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • N-terminal anchor sequence tethers the protein to the outer membrane
  • a single -adrenergic receptor kinase site at amino acids 25-29
  • 21 two PKA/PKC kinase motifs at amino acids 32-34 and 67-69
  • a single CK2 (formerly, casein kinase 2)
  • a two iron-two sulphur coordinating domain within its cytosolic region, which is necessary, but not sufficient for interaction with BCL2
  • a 39-amino-acid single zinc-finger domain of the CDGSH type, with a CCHH finger, located close to the carboxy terminus, oriented toward the cytoplasm
  • HOMOLOGY
    Homologene
    FAMILY
  • CISD protein family, NEET proteins family
  • CATEGORY transport
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria,outer
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    text
  • detected both in endoplasmic reticulum (ER) and mitochondrial outer membrane
  • basic FUNCTION
  • may function in Fe-S cluster shuttling and/or in redox reactions
  • important iron-containing protein involved in the control of maximal mitochondrial respiratory rates
  • endoplasmic reticulum (ER) IFN stimulator, which is a strong type I IFN stimulator and plays a pivotal role in response to both non–self-cytosolic RNA and dsDNA (Sun 2009)
  • is involved in mammalian lifespan control (pMID: 20649540)
  • endoplasmic reticulum (ER) BCL-2-interacting protein, which functions to mediate the ability of ER BCL-2 to antagonize BECN1 -dependent autophagy and depress ER calcium stores
  • is required for homeostatic maintenance of skeletal muscle
  • protects mitochondria from age-associated damage and functional decline as well as attenuating the age-associated reduction in whole-body energy metabolism
  • regulates sulphydryl redox status, the unfolded protein response, and Ca2+ homeostasis
  • key player in regulating autophagy
  • physiological role for CISD1, CISD2 in promoting mitochondrial function in cancer cells
  • plays likely an important role in intracellular Ca(2+) homeostasis, which is required for the differentiation and functioning of adipocytes as well as the regulation of glucose homeostasis
  • may function as an autophagy regulator involved in the Bcl-2 mediated regulation of autophagy
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule metal binding,
  • interact with GIMAP5 on the mitochondrial and ER membranes and thereby modulate mitochondrial Ca(2+) uptake associated with the maintenance of intracellular Ca(2+) homeostasis in adipocytes
  • regulates Ca(2+) homeostasis and Ca(2+) has been proposed to have an important regulatory role in autophagy
  • protein
  • is required in this pathway for BCL2 at the ER to functionally antagonize Beclin 1-dependent autophagy
  • cell & other
    REGULATION
    activated by dimerization, induced by innate immune challenges, leads to the activation of CISD2 and, in turn, the downstream components (Sun 2009)
    ASSOCIATED DISORDERS
    corresponding disease(s) WFS2
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral       gain of function
    in cervical cancer cells at both the mRNA and protein levels
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
  • CISD2 expression might be an independent prognostic indicator for the survival of patients with early-stage cervical cancer, and might be a novel biomarker for early-stage cervical cancer progression
  • Therapy target
    SystemTypeDisorderPubmed
    cancer  
    promising mitochondrial targets for cancer therapy
    diabete  
    cellular target for anti-diabetic drugs
    neuromuscularmyopathy 
    novel therapeutic target for treating certain muscle pathologies (PMID: 22343142)
    ANIMAL & CELL MODELS
  • Cisd2 deficiency shortens lifespan resulting in premature aging in mice
  • Naf-1 null mice display discernable clinical signs of degeneration at 2-3 months of age, with early evidence of significant defects in the structure and performance of skeletal muscle