Misplaced Pages

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) Band 4q24 Start 102,868,974 bp End 102,892,807 bp
Gene location (Mouse) Chr. Chromosome 3 (mouse) Band 3|3 G3 Start 135,112,173 bp End 135,129,686 bp
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
Wikidata
View/Edit Human View/Edit Mouse

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

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. .

See also

• CDGSH iron sulfur domain

References

1. ^ GRCh38: Ensembl release 89: ENSG00000145354 – Ensembl, May 2017
2. ^ GRCm38: Ensembl release 89: ENSMUSG00000028165 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. "CISD2 CDGSH iron sulfur domain 2 [ Homo sapiens (human) ]". National Center for Biotechnology Information. Retrieved 2018-06-04.

Further reading

• Shu SG, Tsai CR, Chi CS (November 2003). "Wolfram syndrome: phenotype and novel mutation in two Taiwanese siblings". J. Formos. Med. Assoc. 102 (11): 808–11. PMID 14724730.
• Amr S, Heisey C, Zhang M, Xia XJ, Shows KH, Ajlouni K, Pandya A, Satin LS, El-Shanti H, Shiang R (October 2007). "A homozygous mutation in a novel zinc-finger protein, ERIS, is responsible for Wolfram syndrome 2". Am. J. Hum. Genet. 81 (4): 673–83. doi:10.1086/520961. PMC 2227919. PMID 17846994.
• Conlan AR, Axelrod HL, Cohen AE, Abresch EC, Zuris J, Yee D, Nechushtai R, Jennings PA, Paddock ML (September 2009). "Crystal structure of Miner1: The redox-active 2Fe-2S protein causative in Wolfram Syndrome 2". J. Mol. Biol. 392 (1): 143–53. doi:10.1016/j.jmb.2009.06.079. PMC 2739586. PMID 19580816.
• Chang NC, Nguyen M, Germain M, Shore GC (February 2010). "Antagonism of Beclin 1-dependent autophagy by BCL-2 at the endoplasmic reticulum requires NAF-1". EMBO J. 29 (3): 606–18. doi:10.1038/emboj.2009.369. PMC 2830692. PMID 20010695.
• Chen YF, Wu CY, Kirby R, Kao CH, Tsai TF (July 2010). "A role for the CISD2 gene in lifespan control and human disease". Ann. N. Y. Acad. Sci. 1201 (1): 58–64. Bibcode:2010NYASA1201...58C. doi:10.1111/j.1749-6632.2010.05619.x. PMID 20649540. S2CID 22176942.
• Tamir S, Zuris JA, Agranat L, Lipper CH, Conlan AR, Michaeli D, Harir Y, Paddock ML, Mittler R, Cabantchik ZI, Jennings PA, Nechushtai R (2013). "Nutrient-deprivation autophagy factor-1 (NAF-1): biochemical properties of a novel cellular target for anti-diabetic drugs". PLOS ONE. 8 (5): e61202. Bibcode:2013PLoSO...861202T. doi:10.1371/journal.pone.0061202. PMC 3661554. PMID 23717386.
• Sohn YS, Tamir S, Song L, Michaeli D, Matouk I, Conlan AR, Harir Y, Holt SH, Shulaev V, Paddock ML, Hochberg A, Cabanchick IZ, Onuchic JN, Jennings PA, Nechushtai R, Mittler R (September 2013). "NAF-1 and mitoNEET are central to human breast cancer proliferation by maintaining mitochondrial homeostasis and promoting tumor growth". Proc. Natl. Acad. Sci. U.S.A. 110 (36): 14676–81. Bibcode:2013PNAS..11014676S. doi:10.1073/pnas.1313198110. PMC 3767537. PMID 23959881.
• Tamir S, Rotem-Bamberger S, Katz C, Morcos F, Hailey KL, Zuris JA, Wang C, Conlan AR, Lipper CH, Paddock ML, Mittler R, Onuchic JN, Jennings PA, Friedler A, Nechushtai R (April 2014). "Integrated strategy reveals the protein interface between cancer targets Bcl-2 and NAF-1". Proc. Natl. Acad. Sci. U.S.A. 111 (14): 5177–82. Bibcode:2014PNAS..111.5177T. doi:10.1073/pnas.1403770111. PMC 3986192. PMID 24706857.
• Liu L, Xia M, Wang J, Zhang W, Zhang Y, He M (September 2014). "CISD2 expression is a novel marker correlating with pelvic lymph node metastasis and prognosis in patients with early-stage cervical cancer". Med. Oncol. 31 (9): 183. doi:10.1007/s12032-014-0183-5. PMID 25134919. S2CID 40242445.

External links

• CISD2

This article on a gene on human chromosome 4 is a stub. You can help Misplaced Pages by expanding it.

• v
• t
• e

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

• Genes on human chromosome 4
• Human chromosome 4 gene stubs