CISD3

CDGSH iron sulfur domain 3, the group of CDGSH iron sulfur domain containing

Basic information

Region (hg38): 17:38730340-38735605

Links

ENSG00000277972 ∙ NCBI:284106 ∙ OMIM:611933 ∙ HGNC:27578 ∙ Uniprot:P0C7P0 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the CISD3 gene.

• not provided (53 variants)
• Inborn genetic diseases (16 variants)
• not specified (1 variants)
• PCGF2-related condition (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CISD3 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			8			8
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			34	16	7	57
Total	0	0	42	16	7

Variants in CISD3

This is a list of pathogenic ClinVar variants found in the CISD3 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
17-38730387-C-T		not specified	Uncertain significance (Aug 09, 2021)
17-38730392-G-A		not specified	Uncertain significance (Apr 24, 2023)
17-38730405-G-C		not specified	Uncertain significance (Nov 15, 2021)
17-38731320-G-A		not specified	Uncertain significance (Jan 10, 2023)
17-38731321-C-T		not specified	Uncertain significance (Aug 11, 2022)
17-38731409-G-C		not specified	Uncertain significance (Oct 17, 2023)
17-38733307-G-A		not specified	Uncertain significance (Apr 07, 2023)
17-38733321-C-T		not specified	Uncertain significance (Sep 09, 2021)
17-38733353-G-A		not specified	Uncertain significance (Sep 17, 2021)
17-38733421-G-A		not specified	Uncertain significance (Sep 06, 2022)
17-38734160-C-T			Benign (Oct 01, 2022)
17-38735214-T-A		PCGF2-related disorder	Likely benign (Dec 23, 2019)
17-38735229-T-G		not specified	Uncertain significance (May 04, 2022)
17-38735231-AG-A		Wolfram syndrome 2 • Turnpenny-fry syndrome	Uncertain significance (Mar 25, 2024)
17-38735233-G-C		Inborn genetic diseases	Uncertain significance (Jul 07, 2023)
17-38735233-G-T		Inborn genetic diseases	Conflicting classifications of pathogenicity (Nov 17, 2022)
17-38735234-G-C			Uncertain significance (Oct 13, 2023)
17-38735240-C-T		Inborn genetic diseases	Likely benign (Aug 05, 2023)
17-38735241-G-A			Likely benign (Nov 26, 2023)
17-38735242-G-A			Uncertain significance (Oct 25, 2022)
17-38735247-G-A			Likely benign (Jan 22, 2024)
17-38735250-G-C			Uncertain significance (Oct 30, 2023)
17-38735253-G-A			Likely benign (Oct 06, 2023)
17-38735257-G-T		not specified	Uncertain significance (Feb 26, 2024)
17-38735267-G-A		Inborn genetic diseases	Uncertain significance (Apr 25, 2022)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Can transfer its iron-sulfur clusters to the apoferrodoxins FDX1 and FDX2. Contributes to mitochondrial iron homeostasis and in maintaining normal levels of free iron and reactive oxygen species, and thereby contributes to normal mitochondrial function. {ECO:0000269|PubMed:29259115}.

Intolerance Scores

• rvis_EVS: 0.39
• rvis_percentile_EVS: 75.75

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.231

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Cisd3

Gene ontology

• Biological process: protein maturation by [2Fe-2S] cluster transfer
• Cellular component: mitochondrion
• Molecular function: metal ion binding;2 iron, 2 sulfur cluster binding