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Aliases for SFXN4 Gene

Aliases for SFXN4 Gene

  • Sideroflexin 4 2 3 5
  • Breast Cancer Resistance Marker 1 3 4
  • BCRM1 3 4
  • Sideroflexin-4 3
  • COXPD18 3

External Ids for SFXN4 Gene

Previous GeneCards Identifiers for SFXN4 Gene

  • GC00U991058
  • GC10M120143
  • GC10M121032
  • GC10M120565
  • GC10M120535
  • GC10M120890
  • GC10M114530

Summaries for SFXN4 Gene

Entrez Gene Summary for SFXN4 Gene

  • This gene encodes a member of the sideroflexin family. The encoded protein is a transmembrane protein of the inner mitochondrial membrane, and is required for mitochondrial respiratory homeostasis and erythropoiesis. Mutations in this gene are associated with mitochondriopathy and macrocytic anemia. Alternatively spliced transcript variants have been found in this gene. [provided by RefSeq, Jan 2014]

GeneCards Summary for SFXN4 Gene

SFXN4 (Sideroflexin 4) is a Protein Coding gene. Diseases associated with SFXN4 include Combined Oxidative Phosphorylation Deficiency 18 and Macrocytic Anemia. GO annotations related to this gene include cation transmembrane transporter activity and ion transmembrane transporter activity. An important paralog of this gene is SFXN5.

UniProtKB/Swiss-Prot for SFXN4 Gene

  • Potential iron transporter.

Additional gene information for SFXN4 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SFXN4 Gene

Genomics for SFXN4 Gene

Regulatory Elements for SFXN4 Gene

Enhancers for SFXN4 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH10H119160 0.9 ENCODE 77 +3.9 3907 1.9 HDAC1 PKNOX1 ATF1 TBL1XR1 TCF12 ZNF121 FOS ATF7 CREM SMARCA5 SFXN4 GC10P119111
GH10H119219 1.4 Ensembl ENCODE dbSUPER 24.3 -56.2 -56169 4.8 ZFP64 RAD21 ZNF366 FOS RCOR1 SP5 ZEB2 REST ZNF843 ZNF623 TIAL1 SEC23IP SFXN4 RPL17P36 MCMBP RN7SL749P GC10P119246
GH10H119176 1.1 ENCODE 22 -12.1 -12130 3.9 HDGF FOXA2 MLX ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 SFXN4 PRDX3
GH10H119218 0.9 ENCODE dbSUPER 25.1 -52.7 -52678 0.7 MAZ ZSCAN4 ZNF398 ZIC2 ZNF341 PATZ1 PRDM10 ZXDB TRIM28 ZNF558 SFXN4 RN7SL749P GC10P119246
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SFXN4 on UCSC Golden Path with GeneCards custom track

Promoters for SFXN4 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000034214 109 1201 HDGF MLX ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143 ZNF207 SP3

Genomic Locations for SFXN4 Gene

Genomic Locations for SFXN4 Gene
24,943 bases
Minus strand

Genomic View for SFXN4 Gene

Genes around SFXN4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SFXN4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SFXN4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SFXN4 Gene

Proteins for SFXN4 Gene

  • Protein details for SFXN4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Protein Accession:
    Secondary Accessions:
    • Q6WSU4
    • Q86TD9

    Protein attributes for SFXN4 Gene

    337 amino acids
    Molecular mass:
    37998 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for SFXN4 Gene


neXtProt entry for SFXN4 Gene

Post-translational modifications for SFXN4 Gene

  • Ubiquitination at isoforms=106 and isoforms=2, 3230
  • Modification sites at PhosphoSitePlus

Other Protein References for SFXN4 Gene

No data available for DME Specific Peptides for SFXN4 Gene

Domains & Families for SFXN4 Gene

Gene Families for SFXN4 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Transporters

Protein Domains for SFXN4 Gene


Suggested Antigen Peptide Sequences for SFXN4 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the sideroflexin family.
  • Belongs to the sideroflexin family.
genes like me logo Genes that share domains with SFXN4: view

Function for SFXN4 Gene

Molecular function for SFXN4 Gene

UniProtKB/Swiss-Prot Function:
Potential iron transporter.

Phenotypes From GWAS Catalog for SFXN4 Gene

Gene Ontology (GO) - Molecular Function for SFXN4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0015075 ion transmembrane transporter activity IEA --
genes like me logo Genes that share ontologies with SFXN4: view
genes like me logo Genes that share phenotypes with SFXN4: view

Human Phenotype Ontology for SFXN4 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SFXN4 Gene

MGI Knock Outs for SFXN4:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for SFXN4 Gene

Localization for SFXN4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SFXN4 Gene

Mitochondrion inner membrane; Multi-pass membrane protein.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SFXN4 gene
Compartment Confidence
mitochondrion 4
cytosol 2
plasma membrane 1
peroxisome 1
nucleus 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for SFXN4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005743 mitochondrial inner membrane IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with SFXN4: view

Pathways & Interactions for SFXN4 Gene

SuperPathways for SFXN4 Gene

No Data Available

Gene Ontology (GO) - Biological Process for SFXN4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0006811 ion transport IEA --
GO:0034220 ion transmembrane transport IEA --
GO:0055072 iron ion homeostasis IEA --
GO:0055085 transmembrane transport IEA --
genes like me logo Genes that share ontologies with SFXN4: view

No data available for Pathways by source and SIGNOR curated interactions for SFXN4 Gene

Drugs & Compounds for SFXN4 Gene

(1) Additional Compounds for SFXN4 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • Armco iron
  • Carbonyl iron
  • FE
  • Ferrovac e
  • Hematite
genes like me logo Genes that share compounds with SFXN4: view

Transcripts for SFXN4 Gene

Unigene Clusters for SFXN4 Gene

Sideroflexin 4:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for SFXN4 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13 ^ 14 ^ 15 ^ 16
SP1: - - - -
SP2: - -
SP3: - -
SP5: - -

Relevant External Links for SFXN4 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for SFXN4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SFXN4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for SFXN4 Gene

This gene is overexpressed in Breast (13.5) and Lung (12.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for SFXN4 Gene

Protein tissue co-expression partners for SFXN4 Gene

NURSA nuclear receptor signaling pathways regulating expression of SFXN4 Gene:


SOURCE GeneReport for Unigene cluster for SFXN4 Gene:


Phenotype-based relationships between genes and organs from Gene ORGANizer for SFXN4 Gene

Germ Layers:
  • ectoderm
  • mesoderm
  • nervous
  • skeletal muscle
Head and neck:
  • brain
  • cranial nerve
  • eye
  • head
  • peripheral nervous system
genes like me logo Genes that share expression patterns with SFXN4: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Evidence on tissue expression from TISSUES for SFXN4 Gene

Orthologs for SFXN4 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for SFXN4 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia SFXN4 33 34
  • 99.6 (n)
(Canis familiaris)
Mammalia SFXN4 33 34
  • 77.78 (n)
(Bos Taurus)
Mammalia SFXN4 33 34
  • 76.57 (n)
(Rattus norvegicus)
Mammalia Sfxn4 33
  • 71.57 (n)
(Mus musculus)
Mammalia Sfxn4 33 16 34
  • 71.46 (n)
(Ornithorhynchus anatinus)
Mammalia SFXN4 34
  • 45 (a)
(Gallus gallus)
Aves SFXN4 33 34
  • 52.94 (n)
(Anolis carolinensis)
Reptilia SFXN4 34
  • 40 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100487071 33
  • 52.3 (n)
Str.15833 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.8955 33
(Danio rerio)
Actinopterygii sfxn4 33 34
  • 50.59 (n)
prdx3 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.12364 33
(Caenorhabditis elegans)
Secernentea sfxn-5 34
  • 24 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes FSF1 34
  • 21 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.5911 33
Species where no ortholog for SFXN4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SFXN4 Gene

Gene Tree for SFXN4 (if available)
Gene Tree for SFXN4 (if available)

Paralogs for SFXN4 Gene

Paralogs for SFXN4 Gene Pseudogenes for SFXN4 Gene

genes like me logo Genes that share paralogs with SFXN4: view

Variants for SFXN4 Gene

Sequence variations from dbSNP and Humsavar for SFXN4 Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type
rs367932369 Pathogenic 119,157,870(+) ACTCA(C/T)GTAAC splice-donor-variant
rs398124642 Pathogenic 119,162,359(-) CAGCC(-/C)TGCCT nc-transcript-variant, reference, frameshift-variant, utr-variant-5-prime
rs398124643 Pathogenic 119,147,853(-) TGTTA(-/T)GAGAA nc-transcript-variant, reference, frameshift-variant
rs1000105689 -- 119,141,702(+) CTTAT(C/T)TCTAC intron-variant
rs1000170489 -- 119,158,446(+) AACCC(C/T)GTCTC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SFXN4 Gene

Variant ID Type Subtype PubMed ID
nsv825583 CNV gain 20364138
nsv552214 CNV loss 21841781
nsv1041093 CNV gain 25217958
esv3624698 CNV loss 21293372
esv2761635 CNV loss 21179565

Variation tolerance for SFXN4 Gene

Residual Variation Intolerance Score: 13.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.33; 7.32% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SFXN4 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SFXN4 Gene

Disorders for SFXN4 Gene

MalaCards: The human disease database

(2) MalaCards diseases for SFXN4 Gene - From: HGMD, OMIM, ClinVar, GeneTests, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
combined oxidative phosphorylation deficiency 18
  • coxpd18
macrocytic anemia
  • anemia macrocytic
- elite association - COSMIC cancer census association via MalaCards
Search SFXN4 in MalaCards View complete list of genes associated with diseases


  • Combined oxidative phosphorylation deficiency 18 (COXPD18) [MIM:615578]: An autosomal recessive disorder of mitochondrial dysfunction characterized by intrauterine growth retardation, hypotonia, visual impairment, speech delay, and lactic acidosis associated with decreased mitochondrial respiratory chain activity. Affected patients may also show hematologic abnormalities, mainly macrocytic anemia. {ECO:0000269 PubMed:24119684}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for SFXN4

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with SFXN4: view

No data available for Genatlas for SFXN4 Gene

Publications for SFXN4 Gene

  1. Molecular cloning and characterization of a novel human putative transmembrane protein homologous to mouse sideroflexin associated with sideroblastic anemia. (PMID: 14756423) Zheng H … Mao Y (DNA sequence : the journal of DNA sequencing and mapping 2003) 2 3 4 22 60
  2. Macrocytic anemia and mitochondriopathy resulting from a defect in sideroflexin 4. (PMID: 24119684) Hildick-Smith GJ … Paw BH (American journal of human genetics 2013) 3 4 60
  3. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 45 60
  4. A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. (PMID: 16385451) Grupe A … Goate A (American journal of human genetics 2006) 3 45 60
  5. The DNA sequence and comparative analysis of human chromosome 10. (PMID: 15164054) Deloukas P … Rogers J (Nature 2004) 3 4 60

Products for SFXN4 Gene

Sources for SFXN4 Gene

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