CISD2

Protein-coding gene in humans

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]
Band	4q24	End	102,892,807 bp^[1]

Gene location (Mouse)

Chr.	Chromosome 3 (mouse)^[2]

Band	3\|3 G3	Start	135,112,173 bp^[2]
Band	3\|3 G3	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

View/Edit Human

View/Edit Mouse

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

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].

References

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

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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.
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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.