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Homo sapiens CDGSH iron sulfur domain 2 (CISD2), mRNA.


RefSeq Accession Definition Sequence Price Select
NM_001008388 Homo sapiens CDGSH iron sulfur domain 2 (CISD2), mRNA. Full Lenth $2651.40
ORF Sequence $159.00


RefSeq Version NM_001008388.4, 300116254
Length 5892 bp
Structure linear
Update Date 10-APR-2011
Organism Homo sapiens (human)
Definition Homo sapiens CDGSH iron sulfur domain 2 (CISD2), mRNA.
Product CDGSH iron-sulfur domain-containing protein 2
Comment

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. [provided by RefSeq].


Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. COMPLETENESS: complete on the 3' end.
RefSeq NP_001008389.1
CDS 108..515
Exon (1)1..210
Exon (2)1..210
Exon (3)211..425
Exon (4)426..5892
Translation MVLESVARIVKVQLPAYLKRLPVPESITGFARLTVSEWLRLLPFLGVLALLGYLAVRPFL PKKKQQKDSLINLKIQKENPKVVNEINIEDLCLTKAAYCRCWRSKTFPACDGSHNKHNEL TGDNVGPLILKKKEV
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Position Chain Variation Link
216+c, gdbSNP:63749888
Gene SymbolCISD2
Gene SynonymERIS; Miner1; NAF-1; WFS2; ZCD2
Chromosome4
Locus Map4q24
All Transcripts NM_001008388
Title A role for the CISD2 gene in lifespan control and human disease .
Author Chen,Y.F., Wu,C.Y., Kirby,R., Kao,C.H. and Tsai,T.F.
Journal Ann. N. Y. Acad. Sci. 1201, 58-64 (2010)
Title Crystal structure of Miner1: The redox-active 2Fe-2S protein causative in Wolfram Syndrome 2 .
Author Conlan,A.R., Axelrod,H.L., Cohen,A.E., Abresch,E.C., Zuris,J., Yee,D., Nechushtai,R., Jennings,P.A. and Paddock,M.L.
Journal J. Mol. Biol. 392 (1), 143-153 (2009)
Title A homozygous mutation in a novel zinc-finger protein, ERIS, is responsible for Wolfram syndrome 2 .
Author Amr,S., Heisey,C., Zhang,M., Xia,X.J., Shows,K.H., Ajlouni,K., Pandya,A., Satin,L.S., El-Shanti,H. and Shiang,R.
Journal Am. J. Hum. Genet. 81 (4), 673-683 (2007)
Title The outer mitochondrial membrane protein mitoNEET contains a novel redox-active 2Fe-2S cluster .
Author Wiley,S.E., Paddock,M.L., Abresch,E.C., Gross,L., van der Geer,P., Nechushtai,R., Murphy,A.N., Jennings,P.A. and Dixon,J.E.
Journal J. Biol. Chem. 282 (33), 23745-23749 (2007)
Title MitoNEET is an iron-containing outer mitochondrial membrane protein that regulates oxidative capacity .
Author Wiley,S.E., Murphy,A.N., Ross,S.A., van der Geer,P. and Dixon,J.E.
Journal Proc. Natl. Acad. Sci. U.S.A. 104 (13), 5318-5323 (2007)
Title Wolfram syndrome: phenotype and novel mutation in two Taiwanese siblings .
Author Shu,S.G., Tsai,C.R. and Chi,C.S.
Journal J. Formos. Med. Assoc. 102 (11), 808-811 (2003)
Title Bleeding tendency in Wolfram syndrome: a newly identified feature with phenotype genotype correlation .
Author al-Sheyyab,M., Jarrah,N., Younis,E., Shennak,M.M., Hadidi,A., Awidi,A., el-Shanti,H. and Ajlouni,K.
Journal Eur. J. Pediatr. 160 (4), 243-246 (2001)
Title Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing .
Author Simpson,J.C., Wellenreuther,R., Poustka,A., Pepperkok,R. and Wiemann,S.
Journal EMBO Rep. 1 (3), 287-292 (2000)
Title Homozygosity mapping identifies an additional locus for Wolfram syndrome on chromosome 4q .
Author El-Shanti,H., Lidral,A.C., Jarrah,N., Druhan,L. and Ajlouni,K.
Journal Am. J. Hum. Genet. 66 (4), 1229-1236 (2000)

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