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


RefSeq Accession Definition Services Price Order
NM_001008388 Homo sapiens CDGSH iron sulfur domain 2 (CISD2), mRNA. ORF Sequence $159.00
Peptide Services
Antibody Services
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RefSeq Version NM_001008388.4, 300116254
Length 5892 bp
Structure linear
Update Date 17-APR-2013
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, Mar 2011].


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.


##Evidence-Data-START## Transcript exon combination :: BX537971.1, BC032300.1 [ECO:0000332] RNAseq introns :: single sample supports all introns ERS025081, ERS025082 [ECO:0000348] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end.

RefSeq NP_001008389.1
CDS 108..515
Misc Feature(1)114..305
Misc Feature(2)114..305
Misc Feature(3)219..287
Misc Feature(4)348..464
Exon (1)1..210
Gene:CISD2
Gene Synonym:ERIS; Miner1; NAF-1; WFS2; ZCD2
Exon (2)211..425
Gene:CISD2
Gene Synonym:ERIS; Miner1; NAF-1; WFS2; ZCD2
Exon (3)426..5892
Gene:CISD2
Gene Synonym:ERIS; Miner1; NAF-1; WFS2; ZCD2
Translation MVLESVARIVKVQLPAYLKRLPVPESITGFARLTVSEWLRLLPFLGVLALLGYLAVRPFL PKKKQQKDSLINLKIQKENPKVVNEINIEDLCLTKAAYCRCWRSKTFPACDGSHNKHNEL TGDNVGPLILKKKEV
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Position Chain Variation Link
52+dbSNP:
52+g, tdbSNP:223332
67+a, gdbSNP:34403962
119+a, gdbSNP:145312923
159+c, tdbSNP:142339135
216+dbSNP:
216+c, gdbSNP:63749888
226+a, gdbSNP:146299528
289+c, gdbSNP:142253163
290+a, gdbSNP:199702688
401+c, tdbSNP:151223492
443+dbSNP:
443+c, tdbSNP:199992363
447+c, tdbSNP:201294540
500+a, gdbSNP:3974627
523..524+, ttatadbSNP:3974628
746+a, tdbSNP:113520032
790+c, tdbSNP:7439174
843+a, gdbSNP:3974630
913+c, gdbSNP:4583764
938+g, tdbSNP:4597834
970+a, gdbSNP:181140079
984+c, tdbSNP:200929867
987..991+, acagadbSNP:200907667
992+g, tdbSNP:202177149
995+a, cdbSNP:200335385
1022+g, tdbSNP:4404547
1117+g, tdbSNP:111285950
1138..1141+, tcdbSNP:111383553
1140..1141+, tgdbSNP:35045951
1141..1142+, gtdbSNP:140674520
1145+g, tdbSNP:201534173
1168..1169+, gt, gtgtdbSNP:201652008
1245+g, tdbSNP:79809177
1251..1252+, cdbSNP:35331282
1251+, cdbSNP:141383015
1299+a, gdbSNP:184219643
1322+c, tdbSNP:115292237
1385+c, tdbSNP:188111609
1534+g, tdbSNP:200660717
1566+c, tdbSNP:112196870
1573+g, tdbSNP:7254
1743+a, tdbSNP:112503466
1842+a, cdbSNP:223311
1869+c, tdbSNP:188244827
1882+c, gdbSNP:145075446
1982+a, gdbSNP:200694706
2010+c, gdbSNP:181085468
2130+a, cdbSNP:147549214
2269+a, tdbSNP:141865431
2328..2330+, cttdbSNP:148078599
2328+, cttdbSNP:59395567
2345+a, gdbSNP:62327287
2359+a, tdbSNP:62327288
2381+a, gdbSNP:112418987
2390+c, gdbSNP:111303980
2421+g, tdbSNP:79727311
2428+a, gdbSNP:77526189
2617+c, tdbSNP:187157550
2717..2719+, tdbSNP:140544084
2718..2719+, tdbSNP:138483883
2718+, tdbSNP:34550207
2722..2723+, tdbSNP:199992730
2992+a, gdbSNP:74632941
3075..3076+, attdbSNP:35840247
3075+, attdbSNP:140684129
3077..3078+g, tdbSNP:199490840
3077..3078+, tatdbSNP:70937578
3192+g, tdbSNP:113787390
3305+a, cdbSNP:223310
3312+a, gdbSNP:113008381
3336+a, gdbSNP:190765542
3539..3542+, tactdbSNP:142131629
3547+a, cdbSNP:181627301
3629+a, gdbSNP:223309
3673+c, gdbSNP:185744666
3783+c, tdbSNP:113360567
3907+a, tdbSNP:190561512
3925..3926+, aaaaaaaaaaaadbSNP:199492699
3926+, aaaaaaaaaaaaadbSNP:74788698
4024+g, tdbSNP:112056340
4273+g, tdbSNP:116373301
4396+c, gdbSNP:113836479
4427+a, gdbSNP:223308
4474+a, gdbSNP:72935554
4601+c, tdbSNP:7660301
4612+a, cdbSNP:7682231
4613+, adbSNP:36086281
4736+c, gdbSNP:146833214
4825+a, cdbSNP:114168354
4895+a, cdbSNP:182392254
4924+a, gdbSNP:72935555
4954+c, tdbSNP:185479449
5049+g, tdbSNP:6822658
5119+a, gdbSNP:190764358
5246+c, tdbSNP:10452178
5402..5403+, cdbSNP:35599629
5402+c, gdbSNP:36038242
5424+c, gdbSNP:182994503
5445+a, tdbSNP:188693384
5447+a, tdbSNP:193226502
5500+c, tdbSNP:183447777
5522+c, tdbSNP:6823625
5662+c, tdbSNP:6846762
5746+a, cdbSNP:199627415
5809+c, tdbSNP:4699032
Gene SymbolCISD2
Gene SynonymERIS; Miner1; NAF-1; WFS2; ZCD2
Chromosome4
Locus Map4q24
All Transcripts
RefSeq Accession Definition Sequence Price Select
NM_001008388 Homo sapiens CDGSH iron sulfur domain 2 (CISD2), mRNA. Full Length $2651.40
ORF Sequence $159.00
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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