Aliases for SFXN2 Gene

Aliases for SFXN2 Gene

  • Sideroflexin 2 2 3 5
  • Sideroflexin-2 3 4
  • SLC56A2 3

External Ids for SFXN2 Gene

Previous GeneCards Identifiers for SFXN2 Gene

  • GC10P103367
  • GC10P103707
  • GC10P104605
  • GC10P104138
  • GC10P104464
  • GC10P098108

Summaries for SFXN2 Gene

GeneCards Summary for SFXN2 Gene

SFXN2 (Sideroflexin 2) is a Protein Coding gene. 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 SFXN3.

UniProtKB/Swiss-Prot Summary for SFXN2 Gene

  • Mitochondrial amino-acid transporter that mediates transport of serine into mitochondria.

Additional gene information for SFXN2 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SFXN2 Gene

Genomics for SFXN2 Gene

GeneHancer (GH) Regulatory Elements for SFXN2 Gene

Promoters and enhancers for SFXN2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SFXN2 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SFXN2

Top Transcription factor binding sites by QIAGEN in the SFXN2 gene promoter:
  • AhR
  • Bach1
  • Cdc5
  • Egr-2
  • Egr-4
  • NF-1
  • NF-1/L
  • RREB-1
  • TBP

Genomic Locations for SFXN2 Gene

Genomic Locations for SFXN2 Gene
chr10:102,714,508-102,743,492
(GRCh38/hg38)
Size:
28,985 bases
Orientation:
Plus strand
chr10:104,474,295-104,503,249
(GRCh37/hg19)
Size:
28,955 bases
Orientation:
Plus strand

Genomic View for SFXN2 Gene

Genes around SFXN2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SFXN2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SFXN2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SFXN2 Gene

Proteins for SFXN2 Gene

  • Protein details for SFXN2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96NB2-SFXN2_HUMAN
    Recommended name:
    Sideroflexin-2
    Protein Accession:
    Q96NB2
    Secondary Accessions:
    • Q5JSM6

    Protein attributes for SFXN2 Gene

    Size:
    322 amino acids
    Molecular mass:
    36232 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAB70993.1; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for SFXN2 Gene

Post-translational modifications for SFXN2 Gene

  • Ubiquitination at Lys25 and Lys308
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for SFXN2 Gene

Domains & Families for SFXN2 Gene

Gene Families for SFXN2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for SFXN2 Gene

Blocks:
  • Tricarboxylate/iron carrier
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SFXN2 Gene

GenScript: Design optimal peptide antigens:
  • Sideroflexin 2, isoform CRA_a (Q5JSM6_HUMAN)
  • Sideroflexin-2 (SFXN2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q96NB2

UniProtKB/Swiss-Prot:

SFXN2_HUMAN :
  • Belongs to the sideroflexin family.
Family:
  • Belongs to the sideroflexin family.
genes like me logo Genes that share domains with SFXN2: view

Function for SFXN2 Gene

Molecular function for SFXN2 Gene

UniProtKB/Swiss-Prot Function:
Mitochondrial amino-acid transporter that mediates transport of serine into mitochondria.

Phenotypes From GWAS Catalog for SFXN2 Gene

Gene Ontology (GO) - Molecular Function for SFXN2 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 SFXN2: view
genes like me logo Genes that share phenotypes with SFXN2: view

Animal Model Products

CRISPR Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SFXN2 Gene

Localization for SFXN2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SFXN2 Gene

Mitochondrion membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
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 SFXN2 gene
Compartment Confidence
mitochondrion 5
cytosol 2
extracellular 1
peroxisome 1
nucleus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for SFXN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IDA 30442778
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0031966 mitochondrial membrane IEA --
genes like me logo Genes that share ontologies with SFXN2: view

Pathways & Interactions for SFXN2 Gene

PathCards logo

SuperPathways for SFXN2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for SFXN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport IEA --
GO:0006865 amino acid transport IEA --
GO:0034220 ion transmembrane transport IEA --
GO:0055085 transmembrane transport IEA --
GO:1990542 mitochondrial transmembrane transport IDA 30442778
genes like me logo Genes that share ontologies with SFXN2: view

No data available for Pathways by source and SIGNOR curated interactions for SFXN2 Gene

Drugs & Compounds for SFXN2 Gene

(1) Drugs for SFXN2 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Iron Approved, Experimental Pharma 1496
genes like me logo Genes that share compounds with SFXN2: view

Transcripts for SFXN2 Gene

mRNA/cDNA for SFXN2 Gene

2 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
13 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SFXN2 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b · 4c ^ 5 ^ 6 ^ 7a · 7b · 7c ^ 8 ^ 9a · 9b ^ 10a · 10b · 10c · 10d · 10e · 10f ^ 11a · 11b ^ 12 ^ 13 ^ 14 ^
SP1: - - - - - - - - - - - - - -
SP2: - - - - - - - - - - -
SP3:
SP4: - - - - - - - -
SP5: - - - - - - - - - - - - -
SP6: - - - - - - - - -
SP7: - - - - - - - - -
SP8: - - - - - - - -
SP9: - - - - - - -
SP10: - - - - -
SP11: - - - - -
SP12: - - - -
SP13: - - - - - - - - - -
SP14: -
SP15: - - - -

ExUns: 15 ^ 16 ^ 17 ^ 18a · 18b
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:

Relevant External Links for SFXN2 Gene

GeneLoc Exon Structure for
SFXN2

Expression for SFXN2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SFXN2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SFXN2 Gene

This gene is overexpressed in Kidney - Cortex (x5.9) and Liver (x4.1).

Protein differential expression in normal tissues from HIPED for SFXN2 Gene

This gene is overexpressed in Nasal epithelium (29.9) and Kidney (21.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SFXN2 Gene



Protein tissue co-expression partners for SFXN2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SFXN2

SOURCE GeneReport for Unigene cluster for SFXN2 Gene:

Hs.44070

mRNA Expression by UniProt/SwissProt for SFXN2 Gene:

Q96NB2-SFXN2_HUMAN
Tissue specificity: Widely expressed, highest levels in kidney, liver, and pancreas.

Evidence on tissue expression from TISSUES for SFXN2 Gene

  • Muscle(4.1)
  • Kidney(3.6)
genes like me logo Genes that share expression patterns with SFXN2: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for SFXN2 Gene

Orthologs for SFXN2 Gene

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

Orthologs for SFXN2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SFXN2 31 30
  • 99.59 (n)
OneToOne
dog
(Canis familiaris)
Mammalia SFXN2 31 30
  • 91.41 (n)
OneToOne
cow
(Bos Taurus)
Mammalia SFXN2 31 30
  • 88.82 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia LOC100910912 30
  • 87.37 (n)
mouse
(Mus musculus)
Mammalia Sfxn2 17 31 30
  • 86.34 (n)
oppossum
(Monodelphis domestica)
Mammalia SFXN2 31
  • 77 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SFXN2 31
  • 73 (a)
OneToOne
chicken
(Gallus gallus)
Aves SFXN2 31 30
  • 73.52 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SFXN2 31
  • 60 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia sfxn2 30
  • 68.32 (n)
Str.20013 30
African clawed frog
(Xenopus laevis)
Amphibia MGC69144 30
zebrafish
(Danio rerio)
Actinopterygii sfxn2 31 30
  • 69.47 (n)
OneToOne
wufa03a09 30
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9550 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007119 30
  • 60.9 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG6812 31 32 30
  • 60.19 (n)
OneToOne
CG11739 32
  • 49 (a)
worm
(Caenorhabditis elegans)
Secernentea sfxn-2 31 30
  • 51.82 (n)
OneToOne
T04F8.1 32
  • 49 (a)
C47D12.3 32
  • 48 (a)
C14F5.4 32
  • 47 (a)
AH6.2 32
  • 44 (a)
Y6E2A.9 32
  • 43 (a)
F37H8.4 32
  • 40 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes FSF1 31
  • 32 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 52 (a)
OneToOne
Species where no ortholog for SFXN2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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)
  • 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 SFXN2 Gene

ENSEMBL:
Gene Tree for SFXN2 (if available)
TreeFam:
Gene Tree for SFXN2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SFXN2: view image

Paralogs for SFXN2 Gene

Paralogs for SFXN2 Gene

(3) SIMAP similar genes for SFXN2 Gene using alignment to 8 proteins:

  • SFXN2_HUMAN
  • R4GMR9_HUMAN
  • R4GMS6_HUMAN
  • R4GMW0_HUMAN
  • R4GMX4_HUMAN
  • R4GN63_HUMAN
  • R4GN74_HUMAN
  • R4GNC2_HUMAN
genes like me logo Genes that share paralogs with SFXN2: view

Variants for SFXN2 Gene

Additional dbSNP identifiers (rs#s) for SFXN2 Gene

Structural Variations from Database of Genomic Variants (DGV) for SFXN2 Gene

Variant ID Type Subtype PubMed ID
esv999356 CNV loss 20482838
nsv820242 CNV gain 19587683
nsv831969 CNV loss 17160897

Variation tolerance for SFXN2 Gene

Residual Variation Intolerance Score: 56.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.76; 33.26% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SFXN2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SFXN2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SFXN2 Gene

Disorders for SFXN2 Gene

Additional Disease Information for SFXN2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for SFXN2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for SFXN2 Gene

Publications for SFXN2 Gene

  1. SFXN1 is a mitochondrial serine transporter required for one-carbon metabolism. (PMID: 30442778) Kory N … Sabatini DM (Science (New York, N.Y.) 2018) 3 4 54
  2. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 41 54
  3. Genome-wide association study reveals genetic risk underlying Parkinson's disease. (PMID: 19915575) Simón-Sánchez J … Gasser T (Nature genetics 2009) 3 41 54
  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 41 54
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 54

Products for SFXN2 Gene

Sources for SFXN2 Gene