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CISD2 CDGSH iron sulfur domain 2 [ Homo sapiens (human) ]

Gene ID: 493856, updated on 3-Nov-2024

Summary

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Official Symbol
CISD2provided by HGNC
Official Full Name
CDGSH iron sulfur domain 2provided by HGNC
Primary source
HGNC:HGNC:24212
See related
Ensembl:ENSG00000145354 MIM:611507; AllianceGenome:HGNC:24212
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
ERIS; WFS2; ZCD2; NAF-1; Miner1
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]
Expression
Ubiquitous expression in thyroid (RPKM 8.6), kidney (RPKM 5.5) and 25 other tissues See more
Orthologs
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Genomic context

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See CISD2 in Genome Data Viewer
Location:
4q24
Exon count:
3
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (102868992..102892807)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (106183319..106207145)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (103790149..103813964)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene ubiquitin conjugating enzyme E2 D3 Neighboring gene UBE2D3 antisense RNA 1 Neighboring gene RNA, U7 small nuclear 151 pseudogene Neighboring gene small nucleolar RNA U13 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21762 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15602 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15603 Neighboring gene solute carrier family 9 member B1 Neighboring gene poly(A) binding protein cytoplasmic 1 pseudogene 7 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr4:103859100-103859749 Neighboring gene ACTR3B pseudogene 4

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. A novel prognostic score model incorporating CDGSH iron sulfur domain2 (CISD2) predicts risk of disease progression in laryngeal squamous cell carcinoma. Yang L, et al. Oncotarget, 2016 Apr 19. PMID 27007153, Free PMC Article
  2. CISD2 plays a role in age-related diseases and cancer. Liao HY, et al. Biomed Pharmacother, 2021 Jun. PMID 33752060
  3. Elevated CISD2 expression predicts poor diagnosis and promotes invasion and migration of prostate cancer cells. Zhu QQ, et al. Eur Rev Med Pharmacol Sci, 2020 Jun. PMID 32633348
  4. Cisd2: a promising new target in Alzheimer's disease(†). Nobili A, et al. J Pathol, 2020 Jun. PMID 32207855
  5. Neuronal CISD2 plays a minor anti-inflammatory role in LPS-stimulated neuron-like SH-SY5Y cells. Kuo CY, et al. J Neurol Sci, 2020 Jan 15. PMID 31683052

See all (110) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. CISD2 regulates oxidative stress and mitophagy to maintain the balance of the follicular microenvironment in PCOS.
    Title: CISD2 regulates oxidative stress and mitophagy to maintain the balance of the follicular microenvironment in PCOS.
  2. 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.
    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.
  3. A preliminary study unveils CISD2 as a ferroptosis-related therapeutic target for recurrent spontaneous abortion through immunological analysis and two-sample mendelian randomization.
    Title: A preliminary study unveils CISD2 as a ferroptosis-related therapeutic target for recurrent spontaneous abortion through immunological analysis and two-sample mendelian randomization.
  4. Overexpression of CISD2 alleviates septic acute kidney injury via activating Sonic Hedgehog signaling pathway.
    Title: Overexpression of CISD2 alleviates septic acute kidney injury via activating Sonic Hedgehog signaling pathway.
  5. CISD2 promotes lung squamous carcinoma cell migration and invasion via the TGF-beta1-induced Smad2/3 signaling pathway.
    Title: CISD2 promotes lung squamous carcinoma cell migration and invasion via the TGF-β1-induced Smad2/3 signaling pathway.
  6. CDGSH iron sulfur domain 2 mitigates apoptosis, oxidative stress and inflammatory response caused by oxygen-glucose deprivation/reoxygenation in HT22 hippocampal neurons by Akt-Nrf2-activated pathway.
    Title: CDGSH iron sulfur domain 2 mitigates apoptosis, oxidative stress and inflammatory response caused by oxygen-glucose deprivation/reoxygenation in HT22 hippocampal neurons by Akt-Nrf2-activated pathway.
  7. Cisd2 plays an essential role in corneal epithelial regeneration.
    Title: Cisd2 plays an essential role in corneal epithelial regeneration.
  8. Disrupting CISD2 function in cancer cells primarily impacts mitochondrial labile iron levels and triggers TXNIP expression.
    Title: Disrupting CISD2 function in cancer cells primarily impacts mitochondrial labile iron levels and triggers TXNIP expression.
  9. CISD2 maintains cellular homeostasis.
    Title: CISD2 maintains cellular homeostasis.
  10. CISD2 plays a role in age-related diseases and cancer.
    Title: CISD2 plays a role in age-related diseases and cancer.
Submit: New GeneRIF Correction See all GeneRIFs (39)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Wolfram syndrome 2
MedGen: C1858028 OMIM: 604928 GeneReviews: Not available
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EBI GWAS Catalog

Description
Genome-wide association study on dimethylarginines reveals novel AGXT2 variants associated with heart rate variability but not with overall mortality.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ36037

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables 2 iron, 2 sulfur cluster binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables 2 iron, 2 sulfur cluster binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables RNA binding HDA PubMed 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein homodimerization activity IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in autophagy of mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in regulation of autophagy IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
located_in endoplasmic reticulum IDA
Inferred from Direct Assay
more info
  
located_in endoplasmic reticulum membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in membrane HDA PubMed 
is_active_in mitochondrial outer membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in mitochondrial outer membrane ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in perinuclear endoplasmic reticulum IDA
Inferred from Direct Assay
more info
 PubMed 
part_of protein-containing complex IDA
Inferred from Direct Assay
more info
  

General protein information

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Preferred Names
CDGSH iron-sulfur domain-containing protein 2
Names
endoplasmic reticulum intermembrane small protein
mitoNEET-related 1 protein
nutrient-deprivation autophagy factor-1
zinc finger, CDGSH-type domain 2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_008636.2 RefSeqGene

    Range
    5015..28830
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_1266

mRNA and Protein(s)

  1. NM_001008388.5 → NP_001008389.1  CDGSH iron-sulfur domain-containing protein 2

    See identical proteins and their annotated locations for NP_001008389.1

    Status: REVIEWED

    Source sequence(s)
    AC018797, AC083826, AK292134, BX537971
    Consensus CDS
    CCDS34040.1
    UniProtKB/Swiss-Prot
    Q7Z3D5, Q8N5K1
    Related
    ENSP00000273986.4, ENST00000273986.10
    Conserved Domains (2) summary
    smart00704
    Location:81 → 119
    ZnF_CDGSH; CDGSH-type zinc finger. Function unknown
    pfam10660
    Location:3 → 66
    MitoNEET_N; Iron-containing outer mitochondrial membrane protein N-terminus

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

    Range
    102868992..102892807
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060928.1 Alternate T2T-CHM13v2.0

    Range
    106183319..106207145
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8N5K1.1 GenPept UniProtKB/Swiss-Prot:Q8N5K1

Gene LinkOut

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