LOCUS       NM_001008388            5878 bp    mRNA    linear   PRI 19-AUG-2024
DEFINITION  Homo sapiens CDGSH iron sulfur domain 2 (CISD2), mRNA.
ACCESSION   NM_001008388
VERSION     NM_001008388.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 5878)
  AUTHORS   Wu,H.H., Zhu,Q., Liang,N., Xiang,Y., Xu,T.Y., Huang,Z.C., Cai,J.Y.,
            Weng,L.L. and Ge,H.S.
  TITLE     CISD2 regulates oxidative stress and mitophagy to maintain the
            balance of the follicular microenvironment in PCOS
  JOURNAL   Redox Rep 29 (1), 2377870 (2024)
   PUBMED   39010730
  REMARK    GeneRIF: CISD2 regulates oxidative stress and mitophagy to maintain
            the balance of the follicular microenvironment in PCOS.
REFERENCE   2  (bases 1 to 5878)
  AUTHORS   Wang,Y. and Yi,Y.
  TITLE     CISD2 downregulation participates in the ferroptosis process of
            human ovarian SKOV-3 cells through modulating the wild type
            p53-mediated GLS2/SAT1/SLC7A11 and Gpx4/TRF signaling pathway
  JOURNAL   Tissue Cell 89, 102458 (2024)
   PUBMED   38991271
  REMARK    GeneRIF: CISD2 downregulation participates in the ferroptosis
            process of human ovarian SKOV-3 cells through modulating the wild
            type p53-mediated GLS2/SAT1/SLC7A11 and Gpx4/TRF signaling pathway.
REFERENCE   3  (bases 1 to 5878)
  AUTHORS   Shangguan,M., Zheng,J., Liu,N., Zhao,J. and Wang,Q.
  TITLE     A preliminary study unveils CISD2 as a ferroptosis-related
            therapeutic target for recurrent spontaneous abortion through
            immunological analysis and two-sample mendelian randomization
  JOURNAL   J Reprod Immunol 163, 104249 (2024)
   PUBMED   38678819
  REMARK    GeneRIF: A preliminary study unveils CISD2 as a ferroptosis-related
            therapeutic target for recurrent spontaneous abortion through
            immunological analysis and two-sample mendelian randomization.
REFERENCE   4  (bases 1 to 5878)
  AUTHORS   Wu,W., Zhang,J., Chen,F., Song,H. and Zhou,X.
  TITLE     Overexpression of CISD2 alleviates septic acute kidney injury via
            activating Sonic Hedgehog signaling pathway
  JOURNAL   Cell Mol Biol (Noisy-le-grand) 70 (5), 238-242 (2024)
   PUBMED   38814213
  REMARK    GeneRIF: Overexpression of CISD2 alleviates septic acute kidney
            injury via activating Sonic Hedgehog signaling pathway.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 5878)
  AUTHORS   Zhang,J., Pan,L., Zhang,S., Yang,Y., Liang,J., Ma,S. and Wu,Q.
  TITLE     CISD2 promotes lung squamous carcinoma cell migration and invasion
            via the TGF-beta1-induced Smad2/3 signaling pathway
  JOURNAL   Clin Transl Oncol 25 (12), 3527-3540 (2023)
   PUBMED   37249759
  REMARK    GeneRIF: CISD2 promotes lung squamous carcinoma cell migration and
            invasion via the TGF-beta1-induced Smad2/3 signaling pathway.
REFERENCE   6  (bases 1 to 5878)
  AUTHORS   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.
  TITLE     The outer mitochondrial membrane protein mitoNEET contains a novel
            redox-active 2Fe-2S cluster
  JOURNAL   J Biol Chem 282 (33), 23745-23749 (2007)
   PUBMED   17584744
REFERENCE   7  (bases 1 to 5878)
  AUTHORS   Wiley,S.E., Murphy,A.N., Ross,S.A., van der Geer,P. and Dixon,J.E.
  TITLE     MitoNEET is an iron-containing outer mitochondrial membrane protein
            that regulates oxidative capacity
  JOURNAL   Proc Natl Acad Sci U S A 104 (13), 5318-5323 (2007)
   PUBMED   17376863
REFERENCE   8  (bases 1 to 5878)
  AUTHORS   Shu,S.G., Tsai,C.R. and Chi,C.S.
  TITLE     Wolfram syndrome: phenotype and novel mutation in two Taiwanese
            siblings
  JOURNAL   J Formos Med Assoc 102 (11), 808-811 (2003)
   PUBMED   14724730
  REMARK    GeneRIF: Novel mutation, new phenotypic variant with no diabetes
            insipidus, presence of peptic ulcer disease, platelet aggregation
            defect
REFERENCE   9  (bases 1 to 5878)
  AUTHORS   al-Sheyyab,M., Jarrah,N., Younis,E., Shennak,M.M., Hadidi,A.,
            Awidi,A., el-Shanti,H. and Ajlouni,K.
  TITLE     Bleeding tendency in Wolfram syndrome: a newly identified feature
            with phenotype genotype correlation
  JOURNAL   Eur J Pediatr 160 (4), 243-246 (2001)
   PUBMED   11317648
REFERENCE   10 (bases 1 to 5878)
  AUTHORS   El-Shanti,H., Lidral,A.C., Jarrah,N., Druhan,L. and Ajlouni,K.
  TITLE     Homozygosity mapping identifies an additional locus for Wolfram
            syndrome on chromosome 4q
  JOURNAL   Am J Hum Genet 66 (4), 1229-1236 (2000)
   PUBMED   10739754
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC018797.4, AK292134.1,
            BX537971.1 and AC083826.7.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Jul 31, 2018 this sequence version replaced NM_001008388.4.
            
            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.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660809.39033.1,
                                           SRR1803616.114659.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000273986.10/ ENSP00000273986.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-49                AC018797.4         165614-165662
            50-662              AK292134.1         1-613
            663-2313            BX537971.1         615-2265
            2314-5119           AC018797.4         185865-188670
            5120-5878           AC083826.7         1-759
FEATURES             Location/Qualifiers
     source          1..5878
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q24"
     gene            1..5878
                     /gene="CISD2"
                     /gene_synonym="ERIS; Miner1; NAF-1; WFS2; ZCD2"
                     /note="CDGSH iron sulfur domain 2"
                     /db_xref="GeneID:493856"
                     /db_xref="HGNC:HGNC:24212"
                     /db_xref="MIM:611507"
     exon            1..196
                     /gene="CISD2"
                     /gene_synonym="ERIS; Miner1; NAF-1; WFS2; ZCD2"
                     /inference="alignment:Splign:2.1.0"
     CDS             94..501
                     /gene="CISD2"
                     /gene_synonym="ERIS; Miner1; NAF-1; WFS2; ZCD2"
                     /note="zinc finger, CDGSH-type domain 2; endoplasmic
                     reticulum intermembrane small protein; mitoNEET-related 1
                     protein; nutrient-deprivation autophagy factor-1"
                     /codon_start=1
                     /product="CDGSH iron-sulfur domain-containing protein 2"
                     /protein_id="NP_001008389.1"
                     /db_xref="CCDS:CCDS34040.1"
                     /db_xref="GeneID:493856"
                     /db_xref="HGNC:HGNC:24212"
                     /db_xref="MIM:611507"
                     /translation="MVLESVARIVKVQLPAYLKRLPVPESITGFARLTVSEWLRLLPF
                     LGVLALLGYLAVRPFLPKKKQQKDSLINLKIQKENPKVVNEINIEDLCLTKAAYCRCW
                     RSKTFPACDGSHNKHNELTGDNVGPLILKKKEV"
     exon            197..411
                     /gene="CISD2"
                     /gene_synonym="ERIS; Miner1; NAF-1; WFS2; ZCD2"
                     /inference="alignment:Splign:2.1.0"
     exon            412..5878
                     /gene="CISD2"
                     /gene_synonym="ERIS; Miner1; NAF-1; WFS2; ZCD2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1269..1274
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CISD2"
                     /gene_synonym="ERIS; Miner1; NAF-1; WFS2; ZCD2"
                     /note="hexamer: ATTAAA"
     polyA_site      1292
                     /gene="CISD2"
                     /gene_synonym="ERIS; Miner1; NAF-1; WFS2; ZCD2"
                     /note="major polyA site"
     regulatory      1617..1622
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CISD2"
                     /gene_synonym="ERIS; Miner1; NAF-1; WFS2; ZCD2"
                     /note="hexamer: AATAAA"
     polyA_site      1643
                     /gene="CISD2"
                     /gene_synonym="ERIS; Miner1; NAF-1; WFS2; ZCD2"
                     /note="major polyA site"
     regulatory      2296..2301
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CISD2"
                     /gene_synonym="ERIS; Miner1; NAF-1; WFS2; ZCD2"
                     /note="hexamer: AATACA"
     polyA_site      2313
                     /gene="CISD2"
                     /gene_synonym="ERIS; Miner1; NAF-1; WFS2; ZCD2"
     regulatory      5855..5860
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CISD2"
                     /gene_synonym="ERIS; Miner1; NAF-1; WFS2; ZCD2"
                     /note="hexamer: AATAAA"
     polyA_site      5878
                     /gene="CISD2"
                     /gene_synonym="ERIS; Miner1; NAF-1; WFS2; ZCD2"
ORIGIN      
        1 agtgcccgcc ggccgcttcc gctcccggcg caggcgcggc agcttggcca gagcggaggg
       61 ggctcgggag aggagtggac gccgctggcc aggatggtgc tggagagcgt ggcccgtatc
      121 gtgaaggtgc agctccctgc atatctgaag cggctcccag tccctgaaag cattaccggg
      181 ttcgctaggc tcacagtttc agaatggctt cggttattgc ctttccttgg tgtactcgca
      241 cttcttggct accttgcagt tcgtccattc ctcccgaaga agaaacaaca gaaggatagc
      301 ttgattaatc ttaaaataca aaaggaaaat ccgaaagtag tgaatgaaat aaacattgaa
      361 gatttgtgtc ttactaaagc agcttattgt aggtgttggc gttctaaaac gtttcctgcc
      421 tgcgatggtt cacataataa acacaatgaa ttgacaggag ataatgtggg tccactaata
      481 ctgaagaaga aagaagtata ataataataa caatattttc tcattctttg tgtatagaaa
      541 attttaaaat ggtggtctta attattacta ctggttgaac aattatttct tccaatttat
      601 tttcttcctg cactactgtt tgtatttgat cctttgtcta ttcagtcact taattagaaa
      661 ttaaattgtc aagcctctta ttctgacttc aaagaattaa tgtatcttcc aacaataaaa
      721 tcacttctga ttttaatcta ggaaaaccta aattgtggct atggatccaa agctgtttgt
      781 ttctttgaat atcaatattt tcaacaggat cttgtattta aaattcccac ctacattgtt
      841 aaatatgtta ttttttcata tctcttttgg ttttgataat ctgaagtgtt tttttctcgt
      901 tttggccttc caaactgcat ttggttaggt gaattaagaa aaatattgcc atcaagaatt
      961 acttgtgttt tcacagagat agactctttg ctttatagag attgttgtgt atttaatatg
     1021 aatatcccag ctttagaaaa gaagtaaact ggatacaaaa agttccattg aggaacagtt
     1081 atttacagta taaaagattt gtttacttta caaaaggctt gtgtctgtgt gtgtgtgtgt
     1141 gtgtgtgtgt gtgtatttta aactgactca gtgacagctg gggtggaatg gcaagaacac
     1201 ttacaaccaa actcatgggc tgctgcaatt tgaagataat tggtaataaa cataagacat
     1261 taattcatat taaaatagtt cagtgttcaa aattgtgttt atgtggatat ttttctcttt
     1321 ttaacactat aaaccattaa aatacagtca tcccttgtat acgctaggga ctggttccag
     1381 ggccacacat ataccaaaat ctgcccatac tcaagtccca cagaaagtct tgcagaaccc
     1441 atatgtagaa aagttggccc tccagttgac cctccgtaca catgagtttc acatcccatg
     1501 cacaaatgct gatctgtgtg acctcacctg catttgattg aaaaaagtat gcgcgtaatt
     1561 gtacccaccc agttcaaacc cgtgtgtaag ggtcaactgt acaaaaaagt ttgtgaaata
     1621 aacgtactgg agaatcttta aaatttttgt gctttttaat cctactatta tgaatctttt
     1681 tagtttcatc ttacattact actctcataa tagctatcct tagccaggtg ccatggcaca
     1741 ggcctgtagt cccaactgct gggaagattg aggtgggagg atggctgcag tacaagagcc
     1801 caggagttca aggccaggct gggcaaccta gtgctccgcc tctgctgggc tctgtaggga
     1861 atcctttctg ttgtaaaaga gttaccattt aactcccttc actgagtgcg tttctgagac
     1921 cttgctaggc actctggaaa ctgcttagtt gagaaaagac aaatacaaaa gcttttcttt
     1981 agtctattta agatacagtt tattcagttc actttgcttt ctttttataa gaatgtacaa
     2041 gaggcagaca gaggtaatcc ttctagaaat aaaactaatt gttattgggc acttgtatgt
     2101 accagacact acactaagca tggtacttgg gtttttaatt tattacatgt aatgtcagta
     2161 ggttcaatta tatgatcgta acatcttcat gaccagcagc atgtatttta gagttagaaa
     2221 tgtagtctgg tttttgagaa gttttacaag gtgtatgtcc aaaattgttc tttcctcaca
     2281 tgtcagtggg ggataaatac agcattgctc tcacttcttt gactctgggt gctttttcgg
     2341 atacattttc ttcaacactg ttaaggggcc tcactgtcag attaaccaat tatttttcca
     2401 cagttggtca ccagactttg gaaaaaatcc acctcaccaa aattttggat atcctgatct
     2461 gtgttcatga aatgctcttc tttttgtaaa atctatcact gcatctcaca gcaacttgtt
     2521 ttcacacatg ttctagtggt tcccataact tagattttac aggaggcaaa tttactaaaa
     2581 atgaggagac taaaatgaat gaccaacttt gaattttgtc aaataacatt gaaaatgaat
     2641 tatctcataa aaggtaattt taatacccca aaagtaagat ggttgtactc tcagaataaa
     2701 gactttttcc ctgccacatt ttcagttgtt aaaatatgct aagagctatg cccatatctt
     2761 ttcccacctg tgcacatttt tcagaagcgt agggttggta gtaagctgtt gctttaataa
     2821 ctcctttaaa taagcattat tagcagtttg cattacttct tgtaaattta cacaatttta
     2881 tcttgtccat ctttaaaaaa tagacatcta ataaccaaat gtatttgaat tgatgcagtg
     2941 taagtaactt gtagaacttg aggataagtg gtaaaagaaa aaaaaaagta acttggctct
     3001 tgaaatacat gtcttcggtt tctagagcct tcaaaataca gccctgttgt tactgcgtca
     3061 catgattgtt ttgaggactg cttctgctta cctaggaaac tactcatgcc ttactcagca
     3121 aatgaacatc actattacat aaacatcagg tatccaaaag tgttagcagg cttgaggtat
     3181 gaatgattca ttcatatggg taattaagca agttgaatta tggaaagcac ctcacaattc
     3241 acacaattca gctttgagtt caatgccaaa tacgatgatt cattaagttg actttgtatt
     3301 ttgtaaccta atttgttaat aagtaagtta caggaagcca attaagccag ctgctgatct
     3361 atatagtact accttcctca ttgtgattcc atagtcttcc aatagaaatg tgctgtcaga
     3421 atctgtatag agagtttgta aatgccacta tttaacaagg ttcttaagaa tttaggtgga
     3481 tgttttattt gatacctacc aaagaagcct aagtaattgt ataatactta acccatttag
     3541 aattcagttg tggcagcata accaatctgg agagaccagg ggagatgtta ctaatgcttg
     3601 tactttattc agaaatgagt gcctcattgg cttggtgcag tgacgacaca cctgtaatct
     3661 cagcactttg ggaggctgag gtgggtggag tacttgatct caggagtacc ataccagctt
     3721 gggcaacgtg gtgagatctc atctctacag aaaaatgcaa aaattagccg ggcacagtgg
     3781 cgcaccagta gtcccagtta ctcgggaggc tgaggcacaa gaatctcttg agttgaggag
     3841 gccaaggttg cagtgagcca agattgtgcc actgcactcc agcctgggca acagaagtga
     3901 aaccctatct taaaaaaaaa aaaagtcttt tttttttttc atctaatcaa atttattgtg
     3961 gcagaaatca gtacgaagtt cgtaggacag gaggaaacca atataaatat ctcagcattg
     4021 taggaaattt aacccatgga aagcaggggt gaattaaaga ccactttgaa ggctgggaaa
     4081 agcagataat ttagatatag tcaaagtatg aaatcattga tagatccaga acaaggaaat
     4141 gatgtatgtg tttacatatt acatctactt tattaacaat tttccctctg ttaaactaat
     4201 atcgactaat agtagtctag gtaagtcaag ttcaaattaa gtggtaattg aaaaagtctt
     4261 ctttttaaaa aatttttaat ggtagaggca gcagctaccc agagtctact tattcttact
     4321 tcacattgaa ttctaacaag tttggttatc tgatttctgc ttcttaacaa atcacaagta
     4381 tcaaaagggt cttgcagaag gggtgaacta caaaatgtga cagctgacag caagtcaggg
     4441 gaacaaaaat aaatttaagg tgaacattaa aggcatagca gcttgagaca atttatagga
     4501 ttctgcatac aactgtctct gaggacatca ctgtgatcaa attatacaag tgatgtttag
     4561 tgatgaattg gaatcaagat aagtagtatg tgttattcaa aaaggcagga tatgtgttgc
     4621 atttggtggt aacaatttcc ccttagctat ttagttaaaa gcttagtgct taacatgttg
     4681 gaaaatttat atgtaaaata tattgactta ctcgatgatt ggaggcttta tcacaggaag
     4741 ttttcccatt caattgaaac atttttcaag cttaatgact ataatttact acataattat
     4801 ttattttgtt aaagtttgag gaaaactaaa taaagcagta gcaatttaag tcataataaa
     4861 ttttgttaga tgacttcttc cactttaggg ggaattaaaa atcatgttta aaaaccacat
     4921 gtgcagcagt tctgtgactc cctcaacatc cggttggcca tatagtccct ttgcaccaca
     4981 gaggttggag tatagaatat gcccaaagct gttttgtttt gttttaacta tgcttcatca
     5041 tctgaggttg tgttaacata gtttgtccta atagtctttt actggaaact tgctatattt
     5101 gatcatgttc agcaagtaaa ctaattttat ctactttcat atattttgag acaaagtctg
     5161 gccctgtcac ccaggctgga gtgcgggggc atgatcgtag ctcactgcag cctcagcctc
     5221 ttgtgctcaa gcgatcctcc cacctcagcc tcccaagtag ctgagactac agtcatgctt
     5281 catcatgccc ggctaatttt ttatttttct aagagacaga gtctcactgt gttacccagg
     5341 ctggtctcga agtcctggac tcaagtgatc ctccctgcct cagcactccc aaagtgctgg
     5401 gattgcaggc atgagcaacc atgcctggtg ttttatcttt tgcagaaatc caatttagta
     5461 aagtcatgtt gtagcaagca tcactttaat ataaaaagtg tacagcttat attattagca
     5521 attgtactgt ttaattttat attagttatg gtcttgaagg acattgaaaa tctgttcaga
     5581 aagactatgt ttttcaacca gagatgacat cactctaact ttcctttggt ttaaatgctt
     5641 gattcttcgc ttacaaaact tctgttttga acaactatgg tgagaaagta tatttgtgat
     5701 actgttttct tagaacactg ttgtcagata gatcagccat aatgttaaca catttctgat
     5761 ctctattata aggctgtaat tttccaaaat aatacagaaa aggagaaaag ggtagtacat
     5821 ttcataatta gagataaccc tgtactagtg agaaaataaa aatgtcaagt ttattaaa
//
