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Aliases for SFXN4 Gene

Aliases for SFXN4 Gene

  • Sideroflexin 4 2 3
  • Breast Cancer Resistance Marker 1 3 4
  • COXPD18 3 6
  • BCRM1 3 4
  • Sideroflexin-4 3

External Ids for SFXN4 Gene

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 growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome. GO annotations related to this gene include cation transmembrane transporter activity. An important paralog of this gene is SFXN3.

UniProtKB/Swiss-Prot for SFXN4 Gene

  • Potential iron transporter.

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

Genomics for SFXN4 Gene

Genomic Location for SFXN4 Gene

Start:
119,140,767 bp from pter
End:
119,165,708 bp from pter
Size:
24,942 bases
Orientation:
Minus strand

Genomic View for SFXN4 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SFXN4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SFXN4 Gene

Regulatory Elements for SFXN4 Gene

Proteins for SFXN4 Gene

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

    Protein Symbol:
    Q6P4A7-SFXN4_HUMAN
    Recommended name:
    Sideroflexin-4
    Protein Accession:
    Q6P4A7
    Secondary Accessions:
    • Q6WSU4
    • Q86TD9

    Protein attributes for SFXN4 Gene

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

    Alternative splice isoforms for SFXN4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SFXN4 Gene

Proteomics data for SFXN4 Gene at MOPED

Post-translational modifications for SFXN4 Gene

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys106 and Lys230

Other Protein References for SFXN4 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for SFXN4 Gene

Domains for SFXN4 Gene

Gene Families for SFXN4 Gene

HGNC:
  • SFXN :Sideroflexins

Protein Domains for SFXN4 Gene

InterPro:
Blocks:
ProtoNet:

UniProtKB/Swiss-Prot:

SFXN4_HUMAN
Family:
  • Belongs to the sideroflexin family.:
    • Q6P4A7
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.

Gene Ontology (GO) - Molecular Function for SFXN4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008324 cation transmembrane transporter activity --
GO:0015075 ion transmembrane transporter activity IEA --
genes like me logo Genes that share ontologies with SFXN4: view

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , miRNA , Transcription Factor Targeting 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

COMPARTMENTS
Jensen Localization Image for SFXN4 Gene COMPARTMENTS Subcellular localization image for SFXN4 gene
Compartment Confidence
mitochondrion 5
cytosol 2
endoplasmic reticulum 1
nucleus 1
peroxisome 1
plasma membrane 1

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 --
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 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 --
GO:0034220 ion transmembrane transport IEA --
GO:0055072 iron ion homeostasis IEA --
GO:0055085 transmembrane transport --
GO:0098655 cation transmembrane transport --
genes like me logo Genes that share ontologies with SFXN4: view

No data available for Pathways by source for SFXN4 Gene

Compounds for SFXN4 Gene

(1) HMDB Compounds for SFXN4 Gene

Compound Synonyms Cas Number PubMed IDs
Iron
  • Armco iron
7439-89-6
genes like me logo Genes that share compounds with SFXN4: view

Transcripts for SFXN4 Gene

Unigene Clusters for SFXN4 Gene

Sideroflexin 4:
Representative Sequences:

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: - -
SP4:
SP5: - -
SP6:

Relevant External Links for SFXN4 Gene

GeneLoc Exon Structure for
SFXN4
ECgene alternative splicing isoforms for
SFXN4

Expression for SFXN4 Gene

mRNA expression in normal human tissues for SFXN4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for SFXN4 Gene

SOURCE GeneReport for Unigene cluster for SFXN4 Gene Hs.655168

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

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
chimpanzee
(Pan troglodytes)
Mammalia SFXN4 36
  • 99.6 (n)
  • 99.7 (a)
SFXN4 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SFXN4 36
  • 76.57 (n)
  • 66.45 (a)
SFXN4 37
  • 66 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SFXN4 36
  • 77.78 (n)
  • 63.78 (a)
SFXN4 37
  • 64 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Sfxn4 36
  • 71.46 (n)
  • 61.34 (a)
Sfxn4 16
Sfxn4 37
  • 61 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SFXN4 37
  • 45 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Sfxn4 36
  • 71.57 (n)
  • 61.66 (a)
chicken
(Gallus gallus)
Aves SFXN4 36
  • 52.94 (n)
  • 40.25 (a)
SFXN4 37
  • 36 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SFXN4 37
  • 40 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.8955 36
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100487071 36
  • 52.3 (n)
  • 40.74 (a)
Str.15833 36
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.12364 36
zebrafish
(Danio rerio)
Actinopterygii prdx3 36
sfxn4 36
  • 50.59 (n)
  • 39.48 (a)
sfxn4 37
  • 37 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea sfxn-5 37
  • 24 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes FSF1 37
  • 21 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.5911 36
Species with no ortholog for SFXN4:
  • 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

ENSEMBL:
Gene Tree for SFXN4 (if available)
TreeFam:
Gene Tree for SFXN4 (if available)

Paralogs for SFXN4 Gene

Paralogs for SFXN4 Gene

Pseudogenes.org 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 MAF
rs925388 -- 119,159,438(-) GAAGC(A/G)GCCAG intron-variant
rs933092 -- 119,165,362(-) CGCGG(C/G)AGGGG intron-variant, utr-variant-5-prime
rs1041686 -- 119,164,752(+) CACCG(C/T)CCCTT intron-variant
rs1128436 -- 119,141,045(-) ACAGT(C/G)GGAAG utr-variant-3-prime, nc-transcript-variant
rs1268935 -- 119,142,776(+) gccca(A/G)actgg intron-variant

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

Variant ID Type Subtype PubMed ID
nsv825583 CNV Gain 20364138

Relevant External Links for SFXN4 Gene

HapMap Linkage Disequilibrium report
SFXN4
Human Gene Mutation Database (HGMD)
SFXN4

Disorders for SFXN4 Gene

(1) OMIM Diseases for SFXN4 Gene (615564)

UniProtKB/Swiss-Prot

SFXN4_HUMAN
  • 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)
SFXN4
Human Genome Epidemiology (HuGE) Navigator
SFXN4
genes like me logo Genes that share disorders with SFXN4: view

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 Seq. 2003) 2 3 4 23
  2. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson S.L. … O'Brien S.J. (PLoS ONE 2010) 3 49
  3. The DNA sequence and comparative analysis of human chromosome 10. (PMID: 15164054) Deloukas P. … Rogers J. (Nature 2004) 3 4
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  5. A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. (PMID: 16385451) Grupe A. … Goate A. (Am. J. Hum. Genet. 2006) 3 49

Products for SFXN4 Gene

Sources for SFXN4 Gene

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