FDX2 ferredoxin 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: FDX2provided by HGNC
Official Full Name: ferredoxin 2provided by HGNC
Primary source: HGNC:HGNC:30546
See related: Ensembl:ENSG00000267673 MIM:614585; AllianceGenome:HGNC:30546
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: FDX1L; MEOAL
Summary: This gene encodes a member of the ferredoxin family. The encoded protein contains a 2Fe-2S ferredoxin-type domain and is essential for heme A and Fe/S protein biosynthesis. Mutation in FDX1L gene is associated with mitochondrial muscle myopathy. [provided by RefSeq, Sep 2014]
Expression: Ubiquitous expression in brain (RPKM 12.1), thyroid (RPKM 8.3) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 19p13.2

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (10310045..10316015, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (10436158..10442125, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (10420721..10426691, complement)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Unraveling the molecular determinants of a rare human mitochondrial disorder caused by the P144L mutation of FDX2.
Title: Unraveling the molecular determinants of a rare human mitochondrial disorder caused by the P144L mutation of FDX2.
Functional spectrum and specificity of mitochondrial ferredoxins FDX1 and FDX2.
Title: Functional spectrum and specificity of mitochondrial ferredoxins FDX1 and FDX2.
FDX1 and FDX2 both bind NFS1 and donate electrons for iron-sulfur cluster biosynthesis.
Title: Human Mitochondrial Ferredoxin 1 (FDX1) and Ferredoxin 2 (FDX2) Both Bind Cysteine Desulfurase and Donate Electrons for Iron-Sulfur Cluster Biosynthesis.
By binding zinc-free ISCU, iron drives persulfide uptake from NFS1 and allows persulfide reduction into sulfide by FDX2, thereby coordinating sulfide production with its availability to generate Fe-S clusters. FXN stimulates the whole process by accelerating persulfide transfer. This reconstitution recapitulates physiological conditions which provides a model for Fe-S cluster biosynthesis on the scaffold protein ISCU.
Title: Physiologically relevant reconstitution of iron-sulfur cluster biosynthesis uncovers persulfide-processing functions of ferredoxin-2 and frataxin.
The phenotype was mapped to the same homozygous missense mutation in FDX2 (c.431C > T, p.P144L). The deleterious effect of the mutation was validated by real-time reverse transcription polymerase chain reaction and western blot analysis, which demonstrated normal expression of FDX2 mRNA but severely reduced expression of FDX2 protein in muscle tissue.
Title: A novel complex neurological phenotype due to a homozygous mutation in FDX2.
Fdx2 is the second component of the Fe-S cluster biogenesis machinery, the first being IscU that is associated with isolated mitochondrial myopathy.
Title: Deleterious mutation in FDX1L gene is associated with a novel mitochondrial muscle myopathy.
unique conformational change is observed when holo hFd2 is warmed to physiological temperatures, or higher
Title: Human ferredoxin-2 displays a unique conformational change.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.

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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

Associated conditions

Description	Tests
Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy MedGen: C5193223 OMIM: 251900 GeneReviews: Primary Mitochondrial Disorders Overview	Compare labs

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

RH48407 (e-PCR)
- UniSTS:15400

WI-14289 (e-PCR)
- UniSTS:10943

Readthrough FDX2-ZGLP1

Readthrough gene: FDX2-ZGLP1, Included gene: ZGLP1

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables 2 iron, 2 sulfur cluster binding	IEA Inferred from Electronic Annotation more info
enables electron transfer activity	IBA Inferred from Biological aspect of Ancestor more info
enables electron transfer activity	IDA Inferred from Direct Assay more info	PubMed
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in P450-containing electron transport chain	IEA Inferred from Electronic Annotation more info
involved_in [2Fe-2S] cluster assembly	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of [4Fe-4S] cluster assembly	IDA Inferred from Direct Assay more info	PubMed
involved_in electron transport chain	IBA Inferred from Biological aspect of Ancestor more info
involved_in iron-sulfur cluster assembly	NAS Non-traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
part_of iron-sulfur cluster assembly complex	NAS Non-traceable Author Statement more info	PubMed
located_in mitochondrial matrix	TAS Traceable Author Statement more info
located_in mitochondrion	HTP more info	PubMed
is_active_in mitochondrion	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrion	NAS Non-traceable Author Statement more info	PubMed

General protein information

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Preferred Names: ferredoxin-2, mitochondrial

Names: adrenodoxin-like protein, mitochondrial; ferredoxin 1 like

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

NG_034259.1 RefSeqGene

Range

5001..10971

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001397406.1 → NP_001384335.1 ferredoxin-2, mitochondrial

Status: REVIEWED

Source sequence(s)

AC011511

Consensus CDS

CCDS32905.3

UniProtKB/Swiss-Prot

B7Z6L7, Q6P4F2, Q8N8B8

Related

ENSP00000377311.5, ENST00000393708.3

Conserved Domains (1) summary

PLN02593
Location:68 → 183

PLN02593; adrenodoxin-like ferredoxin protein

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

NC_000019.10 Reference GRCh38.p14 Primary Assembly

Range

10310045..10316015 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

NC_060943.1 Alternate T2T-CHM13v2.0

Range

10436158..10442125 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_080665.3: Suppressed sequence

Description

NM_080665.3: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.