CISD3 CDGSH iron sulfur domain 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CISD3provided by HGNC
Official Full Name: CDGSH iron sulfur domain 3provided by HGNC
Primary source: HGNC:HGNC:27578
See related: Ensembl:ENSG00000277972 MIM:611933; AllianceGenome:HGNC:27578
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: MiNT; Miner2
Summary: CISD3 is a member of the CDGSH domain-containing family, which may play a role in regulating electron transport and oxidative phosphorylation (Wiley et al., 2007 [PubMed 17376863]).[supplied by OMIM, Apr 2008]
Expression: Ubiquitous expression in kidney (RPKM 15.7), small intestine (RPKM 14.3) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 17q12

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (38730341..38735605)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (39593426..39598690)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (36886594..36891858)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Biochemical and cellular characterization of the CISD3 protein: Molecular bases of cluster release and destabilizing effects of nitric oxide.
Title: Biochemical and cellular characterization of the CISD3 protein: Molecular bases of cluster release and destabilizing effects of nitric oxide.
CISD3 inhibition drives cystine-deprivation induced ferroptosis.
Title: CISD3 inhibition drives cystine-deprivation induced ferroptosis.
Data indicate that mitochondrial inner NEET protein (MiNT)functions within the mitochondria to regulate levels of toxic iron and reactive oxygen species (ROS).
Title: Structure of the human monomeric NEET protein MiNT and its role in regulating iron and reactive oxygen species in cancer cells.

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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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH91451 (e-PCR)
- UniSTS:92439

RH17373 (e-PCR)
- UniSTS:49506

RH78331 (e-PCR)
- UniSTS:51057

RH91164 (e-PCR)
- UniSTS:84360

D17S518 (e-PCR)
- UniSTS:146842

RH12584 (e-PCR)
- UniSTS:15264

RH41914 (e-PCR)
- UniSTS:9931

RH45610 (e-PCR)
- UniSTS:22769

A007D13 (e-PCR)
- UniSTS:19452

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 metal ion binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in protein maturation by [2Fe-2S] cluster transfer	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein maturation by [2Fe-2S] cluster transfer	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in mitochondrion	HTP more info	PubMed
is_active_in mitochondrion	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrion	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: CDGSH iron-sulfur domain-containing protein 3, mitochondrial

Names: mitoNEET related 2; mitoNEET-related protein 2; mitochondrial inner NEET protein

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.

mRNA and Protein(s)

NM_001136498.2 → NP_001129970.1 CDGSH iron-sulfur domain-containing protein 3, mitochondrial precursor

See identical proteins and their annotated locations for NP_001129970.1

Status: VALIDATED

Source sequence(s)

AC006449

Consensus CDS

CCDS45662.1

UniProtKB/Swiss-Prot

P0C7P0

Related

ENSP00000483781.1, ENST00000613478.2

Conserved Domains (2) summary

smart00704
Location:44 → 75

ZnF_CDGSH; CDGSH-type zinc finger. Function unknown

cl02748
Location:83 → 119

zf-CDGSH; Iron-binding zinc finger CDGSH type