CISD2

Summary

Gene Symbol: CISD2
Description: CDGSH iron sulfur domain 2
Summary: The protein encoded by this gene is a zinc finger protein that localizes to the endoplasmic reticulum. The encoded protein binds an iron/sulfur cluster and may be involved in calcium homeostasis. Defects in this gene are a cause of Wolfram syndrome 2 (WFS2). [provided by RefSeq]
Alias: ERIS, Miner1, WFS2, ZCD2, CDGSH iron sulfur domain-containing protein 2, NAF-1, endoplasmic reticulum intermembrane small protein, mitoNEET related 1, mitoNEET-related 1 protein, nutrient-deprivation autophagy factor-1, zinc finger, CDGSH-type domain 2
Species: human

Webpages

  1. the nine planets solar system tour
    seds.lpl.arizona.edu/nineplanets/nineplanets/luna.html
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    seds.lpl.arizona.edu/nineplanets/nineplanets/ganymede.html
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    seds.lpl.arizona.edu/nineplanets/nineplanets/neptune.html

Publications

  1. Homozygosity mapping identifies an additional locus for Wolfram syndrome on chromosome 4q
    H el Shanti
    Department of Pediatrics and Medical Technology, School of Medicine, Jordan University of Science and Technology, Irbid, Jordan
    Am J Hum Genet 66:1229-36
  2. Bleeding tendency in Wolfram syndrome: a newly identified feature with phenotype genotype correlation
    M Al Sheyyab
    Department of Pediatrics, School of Medicine, Jordan University of Science and Technology, Irbid, Jordan
    Eur J Pediatr 160:243-6
  3. Wolfram syndrome: phenotype and novel mutation in two Taiwanese siblings
    San Ging Shu
    Department of Pediatrics, Taichung Veterans General Hospital, Taichung, Taiwan
    J Formos Med Assoc 102:808-11
  4. MitoNEET is an iron-containing outer mitochondrial membrane protein that regulates oxidative capacity
    Sandra E Wiley
    Department of Pharmacology, University of California at San Diego, La Jolla, CA 92093, USA
    Proc Natl Acad Sci U S A 104:5318-23
  5. The outer mitochondrial membrane protein mitoNEET contains a novel redox-active 2Fe-2S cluster
    Sandra E Wiley
    Department of Pharmacology, University of California, San Diego, La Jolla, California 92093, USA
    J Biol Chem 282:23745-9
  6. A homozygous mutation in a novel zinc-finger protein, ERIS, is responsible for Wolfram syndrome 2
    Sami Amr
    Department of Human Genetics, Virginia Commonwealth University, Richmond, VA, USA
    Am J Hum Genet 81:673-83

Detail Information

Publications6

  1. Homozygosity mapping identifies an additional locus for Wolfram syndrome on chromosome 4q
    H el Shanti
    Department of Pediatrics and Medical Technology, School of Medicine, Jordan University of Science and Technology, Irbid, Jordan
    Am J Hum Genet 66:1229-36
    ..We also provide data on a new locus that plays a role in the etiology of insulin-dependent diabetes mellitus...
  2. Bleeding tendency in Wolfram syndrome: a newly identified feature with phenotype genotype correlation
    M Al Sheyyab
    Department of Pediatrics, School of Medicine, Jordan University of Science and Technology, Irbid, Jordan
    Eur J Pediatr 160:243-6
    ..diathesis is a new additional feature to the clinical spectrum of WS, which is probably a feature of the disorder WFS2 and not WFS1, as bleeding has never been reported in the latter...
  3. Wolfram syndrome: phenotype and novel mutation in two Taiwanese siblings
    San Ging Shu
    Department of Pediatrics, Taichung Veterans General Hospital, Taichung, Taiwan
    J Formos Med Assoc 102:808-11
    ..Mutation analysis of the 2 probands revealed compound heterozygotes of 1 novel and 1 previously reported mutation. Their parents and an asymptomatic sibling were carriers of 1 mutation...
  4. MitoNEET is an iron-containing outer mitochondrial membrane protein that regulates oxidative capacity
    Sandra E Wiley
    Department of Pharmacology, University of California at San Diego, La Jolla, CA 92093, USA
    Proc Natl Acad Sci U S A 104:5318-23
    ..Cardiac mitochondria isolated from mitoNEET-null mice demonstrate a reduced oxidative capacity, suggesting that mito- NEET is an important iron-containing protein involved in the control of maximal mitochondrial respiratory rates...
  5. The outer mitochondrial membrane protein mitoNEET contains a novel redox-active 2Fe-2S cluster
    Sandra E Wiley
    Department of Pharmacology, University of California, San Diego, La Jolla, California 92093, USA
    J Biol Chem 282:23745-9
    ..mitoNEET is the first identified 2Fe-2S-containing protein located in the outer mitochondrial membrane. Based on the biophysical data and domain fusion analysis, mitoNEET may function in Fe-S cluster shuttling and/or in redox reactions...
  6. A homozygous mutation in a novel zinc-finger protein, ERIS, is responsible for Wolfram syndrome 2
    Sami Amr
    Department of Human Genetics, Virginia Commonwealth University, Richmond, VA, USA
    Am J Hum Genet 81:673-83
    ..The ZCD2-encoded protein, ERIS (endoplasmic reticulum intermembrane small protein), is also shown to localize to the endoplasmic reticulum but does not interact directly with ..