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

    Gene ID: 493856, updated on 17-Jun-2024

    Summary

    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
    NEW
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    Genomic context

    See CISD2 in Genome Data Viewer
    Location:
    4q24
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (102868992..102892807)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (106183319..106207145)
    105.20220307 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

    Expression

    • Project title: 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Wolfram syndrome 2
    MedGen: C1858028 OMIM: 604928 GeneReviews: Not available
    Compare labs

    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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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 IEA
    Inferred from Electronic Annotation
    more info
     
    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

    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)

    NEW Try the new Transcript table

    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_001008388.5NP_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:81119
      ZnF_CDGSH; CDGSH-type zinc finger. Function unknown
      pfam10660
      Location:366
      MitoNEET_N; Iron-containing outer mitochondrial membrane protein N-terminus

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    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)