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 SFXN1.

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
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH10J102710 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 758 -1.4 -1402 5.8 SIN3A SP1 CTCF GATA3 SREBF1 FOXA1 ZBTB6 SMARCE1 POLR2A CTBP1 ARL3 SFXN2 HSALNG0080313 LDB1 PPRC1 GBF1 PDCD11 ARMH3 WBP1L PCGF6
GH10J102641 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 36.8 -66.8 -66795 12.7 ZNF785 SIN3A SP1 CTCF SREBF1 FOXA1 RBPJ SMARCE1 POLR2A TCF7L2 TRIM8 ARL3 SFXN2 MFSD13A NOLC1 PDCD11 AS3MT PPRC1 TAF5 INA
GH10J102743 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 29.2 +30.1 30115 3.2 PPP1R10 E2F8 SP1 ZBTB40 SIX5 RBPJ POLR2A CEBPZ NR2F6 ATF1 WBP1L CYP17A1-AS1 PDCD11 PPRC1 SFXN2 GBF1 TAF5 AS3MT PCGF6 LDB1
GH10J102772 Promoter/Enhancer 2.1 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 29.2 +64.1 64090 11.7 SMARCE1 ZNF701 L3MBTL2 ZNF121 TEAD4 ZNF652 SP1 ZNF148 CEBPG SP7 WBP1L SFXN2 AS3MT ARL3 PPRC1 NFKB2 LDB1 PDCD11 BORCS7 CYP17A1
GH10J102418 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 13.7 -293.6 -293562 5.1 ZNF785 SIN3A ZNF24 SP1 ZBTB40 CTCF SIX5 ZBTB6 RBPJ SMARCE1 FBXL15 PSD lnc-PSD-1 PDCD11 PPRC1 ARL3 PCGF6 GBF1 SFXN2 NFKB2
- 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

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:
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

  • Addgene plasmids for SFXN2

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
peroxisome 1
cytosol 1
nucleus 0

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 1452
genes like me logo Genes that share compounds with SFXN2: view

Transcripts for SFXN2 Gene

mRNA/cDNA for SFXN2 Gene

CRISPR Products

Clone Products

  • Addgene plasmids for SFXN2

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
ECgene alternative splicing isoforms for
SFXN2

Expression for SFXN2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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

NURSA nuclear receptor signaling pathways regulating expression of SFXN2 Gene:

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 33 32
  • 99.59 (n)
OneToOne
dog
(Canis familiaris)
Mammalia SFXN2 33 32
  • 91.41 (n)
OneToOne
cow
(Bos Taurus)
Mammalia SFXN2 33 32
  • 88.82 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia LOC100910912 32
  • 87.37 (n)
mouse
(Mus musculus)
Mammalia Sfxn2 17 33 32
  • 86.34 (n)
oppossum
(Monodelphis domestica)
Mammalia SFXN2 33
  • 77 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SFXN2 33
  • 73 (a)
OneToOne
chicken
(Gallus gallus)
Aves SFXN2 33 32
  • 73.52 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SFXN2 33
  • 60 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia sfxn2 32
  • 68.32 (n)
Str.20013 32
African clawed frog
(Xenopus laevis)
Amphibia MGC69144 32
zebrafish
(Danio rerio)
Actinopterygii sfxn2 33 32
  • 69.47 (n)
OneToOne
wufa03a09 32
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9550 32
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007119 32
  • 60.9 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG6812 33 34 32
  • 60.19 (n)
OneToOne
CG11739 34
  • 49 (a)
worm
(Caenorhabditis elegans)
Secernentea sfxn-2 33 32
  • 51.82 (n)
OneToOne
T04F8.1 34
  • 49 (a)
C47D12.3 34
  • 48 (a)
C14F5.4 34
  • 47 (a)
AH6.2 34
  • 44 (a)
Y6E2A.9 34
  • 43 (a)
F37H8.4 34
  • 40 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes FSF1 33
  • 32 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 33
  • 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

Sequence variations from dbSNP and Humsavar for SFXN2 Gene

SNP ID Clin Chr 10 pos Variation AA Info Type
rs1000069791 -- 102,726,252(+) G/A genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000197128 -- 102,719,374(+) A/G genic_upstream_transcript_variant, intron_variant
rs1000241208 -- 102,726,882(+) A/G intron_variant
rs1000296649 -- 102,713,312(+) A/G upstream_transcript_variant
rs1000322523 -- 102,713,698(+) A/G upstream_transcript_variant

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 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 56
  2. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 43 56
  3. Genome-wide association study reveals genetic risk underlying Parkinson's disease. (PMID: 19915575) Simón-Sánchez J … Gasser T (Nature genetics 2009) 3 43 56
  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 43 56
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 56

Products for SFXN2 Gene

Sources for SFXN2 Gene