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FDX2 ferredoxin 2 [ Homo sapiens (human) ]

Gene ID: 112812, updated on 10-Dec-2019

Summary

Official Symbol
FDX2provided by HGNC
Official Full Name
ferredoxin 2provided by HGNC
Primary source
HGNC:HGNC:30546
See related
Ensembl:ENSG00000267673 MIM:614585
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

Genomic context

See FDX2 in Genome Data Viewer
Location:
19p13.2
Exon count:
5
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (10310045..10316015, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (10420887..10427241, complement)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene intercellular adhesion molecule 5 Neighboring gene zinc finger GATA like protein 1 Neighboring gene ribonucleoprotein, PTB binding 1 Neighboring gene intercellular adhesion molecule 3

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

Pathways from BioSystems

  • Biological oxidations, organism-specific biosystem (from REACTOME)
    Biological oxidations, organism-specific biosystemAll organisms are constantly exposed to foreign chemicals every day. These can be man-made (drugs, industrial chemicals) or natural (alkaloids, toxins from plants and animals). Uptake is usually via ...
  • Cytochrome P450 - arranged by substrate type, organism-specific biosystem (from REACTOME)
    Cytochrome P450 - arranged by substrate type, organism-specific biosystemThe P450 isozyme system is the major phase 1 biotransforming system in man, accounting for more than 90% of drug biotransformations. This system has huge catalytic versatility and a broad substrate s...
  • Defective CYP11A1 causes Adrenal insufficiency, congenital, with 46,XY sex reversal (AICSR), organism-specific biosystem (from REACTOME)
    Defective CYP11A1 causes Adrenal insufficiency, congenital, with 46,XY sex reversal (AICSR), organism-specific biosystemCholesterol side-chain cleavage enzyme, mitochondrial (CYP11A1) normally catalyses the side-chain cleavage of cholesterol to form pregnenolone. Defects in CYP11A1 can cause Adrenal insufficiency, con...
  • Disease, organism-specific biosystem (from REACTOME)
    Disease, organism-specific biosystemBiological processes are captured in Reactome by identifying the molecules (DNA, RNA, protein, small molecules) involved in them and describing the details of their interactions. From this molecular ...
  • Diseases of metabolism, organism-specific biosystem (from REACTOME)
    Diseases of metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
  • Electron transport from NADPH to Ferredoxin, organism-specific biosystem (from REACTOME)
    Electron transport from NADPH to Ferredoxin, organism-specific biosystemNADPH, ferredoxin reductase (FDXR, Adrenodoxin reductase), and ferredoxins (FDX1, FDX1L) comprise a short electron transport chain that provides electrons for biosynthesis of iron-sulfur clusters and...
  • Endogenous sterols, organism-specific biosystem (from REACTOME)
    Endogenous sterols, organism-specific biosystemA number of CYPs take part in cholesterol biosynthesis and elimination, thus playing an important role in maintaining cholesterol homeostasis. Under normal physiological conditions, cholesterol intak...
  • Metabolic disorders of biological oxidation enzymes, organism-specific biosystem (from REACTOME)
    Metabolic disorders of biological oxidation enzymes, organism-specific biosystemThe ability to process xenobiotica and many endogenous compounds is called biotransformation and is catalysed by enzymes mainly in the liver of higher organisms but also a number of other organs such...
  • Metabolism, organism-specific biosystem (from REACTOME)
    Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
  • Metabolism of lipids and lipoproteins, organism-specific biosystem (from REACTOME)
    Metabolism of lipids and lipoproteins, organism-specific biosystemLipids are hydrophobic but otherwise chemically diverse molecules that play a wide variety of roles in human biology. They include ketone bodies, fatty acids, triacylglycerols, phospholipids and sphi...
  • Metabolism of steroid hormones, organism-specific biosystem (from REACTOME)
    Metabolism of steroid hormones, organism-specific biosystemSteroid hormones are synthesized primarily in the adrenal gland and gonads. They regulate energy metabolism and stress responses (glucocorticoids), salt balance (mineralocorticoids), and sexual devel...
  • Mitochondrial iron-sulfur cluster biogenesis, organism-specific biosystem (from REACTOME)
    Mitochondrial iron-sulfur cluster biogenesis, organism-specific biosystemIron-sulfur (Fe-S) proteins are localized in the cytosol, nucleus, and mitochondria of mammalian cells (reviewed in Stemmler et al. 2010, Rouault 2012, Bandyopadhyay et al. 2008, Lill 2009, Lill et a...
  • Phase 1 - Functionalization of compounds, organism-specific biosystem (from REACTOME)
    Phase 1 - Functionalization of compounds, organism-specific biosystemPhase 1 of metabolism is concerned with functionalization, that is the introduction or exposure of functional groups on the chemical structure of a compound. This provides a 'handle' for phase 2 conj...
  • Pregnenolone biosynthesis, organism-specific biosystem (from REACTOME)
    Pregnenolone biosynthesis, organism-specific biosystemThe first process in the synthesis of all steroid hormones is the synthesis of pregnenolone from cholesterol. In this process, cholesterol mobilized from cytosolic lipid droplets or from lysosomes is...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC19604, MGC74760

Gene Ontology Provided by GOA

Function Evidence Code Pubs
2 iron, 2 sulfur cluster binding IEA
Inferred from Electronic Annotation
more info
 
electron transfer activity IEA
Inferred from Electronic Annotation
more info
 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
C21-steroid hormone biosynthetic process TAS
Traceable Author Statement
more info
 
electron transport chain IEA
Inferred from Electronic Annotation
more info
 
small molecule metabolic process TAS
Traceable Author Statement
more info
 
sterol metabolic process TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
mitochondrial matrix TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
ferredoxin-2, mitochondrial
Names
adrenodoxin-like protein, mitochondrial
ferredoxin 1 like

NCBI Reference Sequences (RefSeq)

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_034259.1 RefSeqGene

    Range
    5001..10971
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001031734.4NP_001026904.2  ferredoxin-2, mitochondrial precursor

    See identical proteins and their annotated locations for NP_001026904.2

    Status: REVIEWED

    Source sequence(s)
    AC011511, AI289404, BC063460, DA243025
    Consensus CDS
    CCDS32905.2
    UniProtKB/Swiss-Prot
    Q6P4F2
    Related
    ENSP00000377311.4, ENST00000393708.3
    Conserved Domains (1) summary
    PLN02593
    Location:71186
    PLN02593; adrenodoxin-like ferredoxin protein

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

    Range
    10310045..10316015 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. 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.
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