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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
  • SLC56A4 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. Gene Ontology (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

GeneHancer (GH) Regulatory Elements for SFXN4 Gene

Promoters and enhancers for SFXN4 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH10J119164 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 660 0.0 -26 3.1 HDGF MLX ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B ZNF207 ZNF143 SFXN4 SEC23IP RPL17P36 TIAL1 EIF3A PRDX3
GH10J119205 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 37 -44.4 -44362 8.7 PKNOX1 FOXA2 ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF213 ZNF207 ZNF143 GRK5 SFXN4 PHACTR2P1 PRDX3 EIF3A GRK5-IT1 RN7SL749P
GH10J119160 Enhancer 0.8 ENCODE 77 +3.9 3907 1.9 HDAC1 PKNOX1 ATF1 TAF9B TCF12 ZNF121 FOS ATF7 CREM SMARCA5 SFXN4 GC10P119111
GH10J119176 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 22 -12.1 -12129 3.9 HDGF SMAD1 FOXA2 MLX ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 PRDX3 EIF3A SFXN4
GH10J119219 Enhancer 1.2 Ensembl ENCODE dbSUPER 24.3 -56.2 -56169 4.8 ZFP64 RAD21 YY1 ZNF335 ZNF366 RCOR1 FOS RXRA SP5 ZBTB11 TIAL1 SEC23IP SFXN4 RPL17P36 MCMBP RN7SL749P GRK5 GC10P119246
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SFXN4 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SFXN4 gene promoter:
  • NF-kappaB1
  • Hlf
  • Pbx1a
  • Ik-1
  • NF-kappaB
  • NF-kappaB2
  • AREB6
  • Msx-1

Genomic Locations for SFXN4 Gene

Genomic Locations for SFXN4 Gene
24,943 bases
Minus strand
24,926 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 posLast=230230 and posLast=106106
  • 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:
  • Sfxn4 Sfxn4<tm1b(KOMP)Wtsi>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SFXN4

Clone 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 --
GO:0043231 intracellular membrane-bounded organelle IDA --
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: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
  • FE (II) ion
  • Fe(II)
  • Fe(2+)
  • Ferrous ion
  • Iron ion(2+)
genes like me logo Genes that share compounds with SFXN4: view

Transcripts for SFXN4 Gene

mRNA/cDNA for SFXN4 Gene

Unigene Clusters for SFXN4 Gene

Sideroflexin 4:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SFXN4

Clone 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, 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 34 33
  • 99.6 (n)
(Canis familiaris)
Mammalia SFXN4 34 33
  • 77.78 (n)
(Bos Taurus)
Mammalia SFXN4 34 33
  • 76.57 (n)
(Rattus norvegicus)
Mammalia Sfxn4 33
  • 71.57 (n)
(Mus musculus)
Mammalia Sfxn4 16 34 33
  • 71.46 (n)
(Ornithorhynchus anatinus)
Mammalia SFXN4 34
  • 45 (a)
(Gallus gallus)
Aves SFXN4 34 33
  • 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 34 33
  • 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 savignyi)
Ascidiacea Cin.5911 33
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)
Evolutionary constrained regions (ECRs) for SFXN4: view image

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 Variation AA Info Type
rs367932369 pathogenic, Combined oxidative phosphorylation deficiency 18 119,157,870(-) C/T splice_donor_variant
rs398124642 pathogenic, Combined oxidative phosphorylation deficiency 18 119,162,359(-) GGG/GG 5_prime_UTR_variant, coding_sequence_variant, frameshift, non_coding_transcript_variant
rs1057521507 likely-benign, not specified 119,157,936(-) A/G intron_variant
rs141926813 likely-benign, not specified 119,147,843(-) T/C coding_sequence_variant, non_coding_transcript_variant, synonymous_variant
rs186017166 likely-benign, not specified 119,157,871(-) G/A coding_sequence_variant, non_coding_transcript_variant, synonymous_variant

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

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

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)

Additional Variant Information for SFXN4 Gene

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

SNP Genotyping and Copy Number Assay Products

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, GTR, 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.

Additional Disease Information for SFXN4

Genetic Association Database
Human Genome Epidemiology 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 58
  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 58
  3. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 44 58
  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 44 58
  5. The DNA sequence and comparative analysis of human chromosome 10. (PMID: 15164054) Deloukas P … Rogers J (Nature 2004) 3 4 58

Products for SFXN4 Gene

Sources for SFXN4 Gene

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