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

Gene ID: 493856, updated on 26-Aug-2014
Official Symbol
CISD2provided by HGNC
Official Full Name
CDGSH iron sulfur domain 2provided by HGNC
Primary source
HGNC:24212
See related
HPRD:17413; MIM:611507
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]
See CISD2 in Epigenomics, MapViewer
Location:
4q24
Exon count:
4
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 4 NC_000004.12 (102828134..102892807)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (103749224..103813964)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene mannosidase, beta A, lysosomal Neighboring gene WD repeat domain 12 pseudogene Neighboring gene uncharacterized LOC102723704 Neighboring gene ubiquitin-conjugating enzyme E2D 3 Neighboring gene solute carrier family 9, subfamily B (NHA1, cation proton antiporter 1), member 1 Neighboring gene poly(A) binding protein, cytoplasmic 1 pseudogene 7 Neighboring gene ACTR3B pseudogene 4

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

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

Description
Genome-wide association study on dimethylarginines reveals novel AGXT2 variants associated with heart rate variability but not with overall mortality.
NHGRI GWA Catalog
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
2 iron, 2 sulfur cluster binding IDA
Inferred from Direct Assay
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
poly(A) RNA binding IDA
Inferred from Direct Assay
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
 
protein homodimerization activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
mitochondrion degradation IEA
Inferred from Electronic Annotation
more info
 
multicellular organismal aging ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of autophagy IMP
Inferred from Mutant Phenotype
more info
 
Component Evidence Code Pubs
endoplasmic reticulum IDA
Inferred from Direct Assay
more info
 
endoplasmic reticulum membrane IDA
Inferred from Direct Assay
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
membrane IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrial outer membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
protein complex IDA
Inferred from Direct Assay
more info
 
Preferred Names
CDGSH iron-sulfur domain-containing protein 2
Names
CDGSH iron-sulfur domain-containing protein 2
mitoNEET-related 1 protein
zinc finger, CDGSH-type domain 2
nutrient-deprivation autophagy factor-1
endoplasmic reticulum intermembrane small protein

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 

    Range
    5001..28830
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001008388.4NP_001008389.1  CDGSH iron-sulfur domain-containing protein 2

    See proteins identical to NP_001008389.1

    Status: REVIEWED

    Source sequence(s)
    AC018797, AC083826, AK292134, BX537971
    Consensus CDS
    CCDS34040.1
    UniProtKB/Swiss-Prot
    Q8N5K1
    Conserved Domains (2) summary
    pfam10660
    Location:366
    Blast Score: 235
    MitoNEET_N; Iron-containing outer mitochondrial membrane protein N-terminus
    smart00704
    Location:81119
    Blast Score: 156
    ZnF_CDGSH; CDGSH-type zinc finger. Function unknown

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000004.12 

    Range
    102828134..102892807
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005263040.2XP_005263097.1  

    Conserved Domains (2) summary
    pfam10660
    Location:1547
    Blast Score: 130
    MitoNEET_N; Iron-containing outer mitochondrial membrane protein N-terminus
    smart00704
    Location:62100
    Blast Score: 153
    ZnF_CDGSH; CDGSH-type zinc finger. Function unknown

Alternate HuRef

Genomic

  1. AC_000136.1 

    Range
    99526316..99550157
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018915.2 

    Range
    103766606..103790436
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)