CISD2

CDGSH iron sulfur domain 2 is a protein that in humans is encoded by the CISD2 gene.^[5]

CISD2
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 3FNV, 4OO7, 4OOA
Identifiers
Aliases	CISD2, ERIS, Miner1, NAF-1, WFS2, ZCD2, CDGSH iron sulfur domain 2
External IDs	OMIM: 611507; MGI: 1914256; HomoloGene: 36436; GeneCards: CISD2; OMA:CISD2 - orthologs
Gene location (Human) Chr. Chromosome 4 (human)[1] Band 4q24 Start 102,868,974 bp[1] End 102,892,807 bp[1]
Gene location (Mouse) Chr. Chromosome 3 (mouse)[2] Band 3|3 G3 Start 135,112,173 bp[2] End 135,129,686 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in pancreatic epithelial cell tendon of biceps brachii islet of Langerhans internal globus pallidus pons cerebellar vermis right lobe of liver pancreatic ductal cell bone marrow cells C1 segment Top expressed in interventricular septum myocardium of ventricle right kidney soleus muscle Paneth cell extraocular muscle proximal tubule temporal muscle digastric muscle retinal pigment epithelium More reference expression data BioGPS n/a
Gene ontology Molecular function iron-sulfur cluster binding protein binding protein homodimerization activity metal ion binding 2 iron, 2 sulfur cluster binding RNA binding Cellular component intracellular membrane-bounded organelle integral component of membrane mitochondrial outer membrane endoplasmic reticulum membrane endoplasmic reticulum membrane mitochondrion protein-containing complex perinuclear endoplasmic reticulum Biological process autophagy regulation of autophagy autophagy of mitochondrion multicellular organism aging Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 493856 67006 Ensembl ENSG00000145354 ENSMUSG00000028165 UniProt Q8N5K1 Q9CQB5 RefSeq (mRNA) NM_001008388 NM_025902 RefSeq (protein) NP_001008389 NP_080178 Location (UCSC) Chr 4: 102.87 – 102.89 Mb Chr 3: 135.11 – 135.13 Mb PubMed search [3] [4]
Wikidata
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Function

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. [provided by RefSeq, Mar 2011].

See also

• CDGSH iron sulfur domain