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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

SFXN2 Gene

protein-coding   GIFtS: 50
GCID: GC10P104464

sideroflexin 2

 Explore 4 diseases affiliated with
SFXN2 via our new
 Human Malady Compendium 
Biological research products
for SFXN2
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Sideroflexin 21 2
Sideroflexin-21

External Ids:    HGNC: 160861   Entrez Gene: 1189802   Ensembl: ENSG000001563987   UniProtKB: Q96NB23   

Export aliases for SFXN2 gene to outside databases

Previous GC identifers: GC10P103367 GC10P103707 GC10P104605 GC10P104138 GC10P098108


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

UniProtKB/Swiss-Prot: SFXN2_HUMAN, Q96NB2
Function: Potential iron transporter




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000010.10  NC_018921.1  NT_030059.13  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SFXN2 gene promoter:
         AhR   Bach1   TBP   NF-1   NF-1/L   RREB-1   Cdc5   Egr-4   Egr-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSFXN2 promoter sequence
   Search SABiosciences Chromatin IP Primers for SFXN2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SFXN2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 10q24.32   Ensembl cytogenetic band:  10q24.32   HGNC cytogenetic band: 10q24.32

SFXN2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SFXN2 gene location

GeneLoc information about chromosome 10         GeneLoc Exon Structure

GeneLoc location for GC10P104464:  view genomic region     (about GC identifiers)

Start:
104,474,297 bp from pter      End:
104,498,951 bp from pter
Size:
24,655 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: SFXN2_HUMAN, Q96NB2 (See protein sequence)
Recommended Name: Sideroflexin-2  
Size: 322 amino acids; 36232 Da
Subcellular location: Mitochondrion membrane; Multi-pass membrane protein (By similarity)
Sequence caution: Sequence=BAB70993.1; Type=Erroneous initiation;

Explore the universe of human proteins at neXtProt for SFXN2: NX_Q96NB2

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q96NB2

  • SFXN2 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_849189.1  
    ENSEMBL proteins: 
     ENSP00000358909  

    Human Recombinant Protein Products: 
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    Novus Biologicals SFXN2 Lysates
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    Browse ProSpec Recombinant Proteins
    Uscn Proteins for SFXN2

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005743mitochondrial inner membrane IEA--
    GO:0016021integral to membrane IEA--


    SFXN2 for ontologies           About GeneDecksing



    SFXN2 Antibody Products: 
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    Uscn Antibodies for SFXN2
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    Uscn ELISAs and CLIAs for SFXN2


    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    SFXN2 for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR004686 Mtc

    Graphical View of Domain Structure for InterPro Entry Q96NB2

    ProtoNet protein and cluster: Q96NB2

    1 Blocks protein family: IPB004686 Tricarboxylate/iron carrier

    UniProtKB/Swiss-Prot: SFXN2_HUMAN, Q96NB2
    Similarity: Belongs to the sideroflexin family


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: SFXN2_HUMAN, Q96NB2
    Function: Potential iron transporter

    miRNA
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    hsa-miR-623 hsa-miR-3685 hsa-miR-1321 hsa-miR-502-5p hsa-miR-539 hsa-miR-128 hsa-miR-650 hsa-miR-9
    SwitchGear 3'UTR luciferase reporter plasmidSFXN2 3' UTR sequence
    Inhib. RNA
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    DNA2.0 Custom Protein Engineering Service for SFXN2

    Clone
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SFXN2

    Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008324cation transmembrane transporter activity IEA--


    SFXN2 for ontologies           About GeneDecksing


    3 GenomeRNAi human phenotypes for SFXN2:
     Decreased influenza A virus in  Increased TP53 protein express  Synthetic lethal with Ras 


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for SFXN2

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    2 Interacting proteins for SFXN2 (Q96NB23 ENSP000003589094) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CLN3Q132863I2D: score=1 
    UBCENSP000003448184STRING: ENSP00000344818
    About this table

    Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0055072iron ion homeostasis IEA--


    SFXN2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for SFXN2

    1 HMDB Compound for SFXN2    About this table
    CompoundSynonyms CAS #PubMed Ids
    IronArmco iron (see all 19)7439-89-6--
    Search CenterWatch for drugs/clinical trials and news about SFXN2 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for SFXN2 gene: 
    NM_178858.4  

    Unigene Cluster for SFXN2:

    Sideroflexin 2
    Hs.44070  [show with all ESTs]
    Unigene Representative Sequence: BC022091
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000369893(uc001kwb.2 uc001kwc.2) ENST00000459894 ENST00000473178
    ENST00000480358

    miRNA
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    8/23 QIAGEN miScript miRNA Assays for microRNAs that regulate SFXN2 (see all 23):
    hsa-miR-623 hsa-miR-3685 hsa-miR-1321 hsa-miR-502-5p hsa-miR-539 hsa-miR-128 hsa-miR-650 hsa-miR-9
    SwitchGear 3'UTR luciferase reporter plasmidSFXN2 3' UTR sequence
    Inhib. RNA
    Products:
         
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for SFXN2 (see all 6)
    Browse OriGene siRNA
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    Clone
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    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for SFXN2 (see all 3)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for SFXN2
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    Additional cDNA sequence: 

    AF462052.1 AK308246.1 BC022091.2 

    10 DOTS entries:

    DT.314537  DT.92069123  DT.121642604  DT.102825440  DT.40188814  DT.121213741  DT.100774592  DT.121213745 
    DT.75172333  DT.92051672 

    24/118 AceView cDNA sequences (see all 118):

    BF194923 BX090573 BM833015 N56615 AI049571 AI168025 BQ082296 BP872141 
    AA557277 AK055711 BP872052 AA894829 CR616223 BP872285 BP873601 AA887308 
    AA476258 BP871592 BM697684 AA989363 BP871559 CA445823 BP872233 AA496126 

    GeneLoc Exon Structure

    5/15 Alternative Splicing Database (ASD) splice patterns (SP) for SFXN2 (see all 15)    About this scheme

    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:        -     -     -     -     -     -     -     -                             -     -                                   -     -     -                     

    ExUns: 15 ^ 16 ^ 17 ^ 18a · 18b
    SP1:                              
    SP2:                              
    SP3:                              
    SP4:                              
    SP5:                              


    ECgene alternative splicing isoforms for SFXN2

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    SFXN2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TCTGAACCTA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See SFXN2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SFXN2

    SOURCE GeneReport for Unigene cluster: Hs.44070
        SABiosciences Custom PCR Arrays for SFXN2
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SFXN2

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for SFXN2 gene from 6/24 species (see all 24)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves SFXN21 sideroflexin 2 73.31(n)
    74.68(a)
      423866  XM_421731.3  XP_421731.1 
    lizard
    (Anolis carolinensis)
    Reptilia SFXN26
    --
    70(a)
    1 ↔ 1
    3(40115142-40140922)
    African clawed frog
    (Xenopus laevis)
    Amphibia MGC691442 hypothetical protein MGC69144 71.68(n)    BC056118.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufa03a092 Danio rerio mRNA similar to sideroflexin 2 (cDNA clone more 74.15(n)    BC048044.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG68121 , 3 CG68121 53(a)
    (best of 2)3
    60.4(n)1
    58.28(a)1
      75F63
    400801  NM_140829.21  NP_649086.21 
    worm
    (Caenorhabditis elegans)
    Secernentea T04F8.13
    sfxn-21
    Protein SFXN-21 49(a)
    (best of 6)3
    51.88(n)1
    48.55(a)1
      X(11694958-11696884)3
    1810541  NM_076940.41  NP_509341.21 


    ENSEMBL Gene Tree for SFXN2 (if available)
    TreeFam Gene Tree for SFXN2 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SFXN2 gene
    SFXN42  SFXN12  SFXN52  SFXN32  
    3 SIMAP similar genes for SFXN2 using alignment to 2 protein entries:     SFXN2_HUMAN (see all proteins):
    SFXN1    SFXN3    SFXN5

    SFXN2 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/384 NCBI SNPs in SFXN2 are shown (see all 384    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 10 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs2001177681,2
    --104476285(+) ATTAC-/TTTTTT 1 -- int10--------
    rs79054811,2
    C,F,--104476292(+) TTTTTT/CTCTCT 1 -- int1 trp38Minor allele frequency- C:0.25NA CSA WA EA 368
    rs560714571,2
    --104476293(+) TTTTTC/TCTCTT 1 -- int10--------
    rs1832837501,2
    --104476384(+) GCAACA/GGTGCG 1 -- int10--------
    rs1379575191,2
    --104476541(+) GGCTGG/TTCTTG 1 -- int10--------
    rs1881584121,2
    --104476581(+) TTGGGC/TTCTCA 1 -- int10--------
    rs1419678601,2
    --104476615(+) GCCACC/TGTGCC 1 -- int10--------
    rs1917954311,2
    --104476627(+) GGCCTC/GGGAGT 1 -- int10--------
    rs1142901731,2
    C,F,--104476662(+) AGGACC/TTTGGG 1 -- int11Minor allele frequency- T:0.02WA 118
    rs1835715401,2
    --104476723(+) TGTTCA/GTGTTT 1 -- int10--------

    HapMap Linkage Disequilibrium report for SFXN2 (104474297 - 104498951 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for SFXN2
         1 CNV: 58417

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing SFXN2
    DNA2.0 Custom Variant and Variant Library Synthesis for SFXN2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    SFXN2 for disorders           About GeneDecksing

    4 diseases for SFXN2:    About MalaCards
    sideroblastic anemia    parkinson's disease    anemia    alzheimer's disease

    1 disease from the University of Copenhagen DISEASES database for SFXN2:
    Sideroblastic anemia
    Human Genome Epidemiology (HuGE) Navigator: SFXN2 (2 documents)

    Export disorders for SFXN2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for SFXN2 gene, integrated from 9 sources (see all 12):
    (articles sorted by number of sources associating them with SFXN2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    3. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)
    4. Methods for quantification of in vivo changes in prote in ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (2012)
    5. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    6. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
    7. A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)
    8. Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1 Hendrickson S.L....O'Brien S.J. (2010)
    9. Genome-wide association study reveals genetic risk un derlying Parkinson's disease. (PubMed id 19915575)1 SimA^n-SA!nchez J....Gasser T. (2009)
    10. A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. (PubMed id 16385451)1 Grupe A....Goate A. (2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 118980 HGNC: 16086 AceView: SFXN2 Ensembl:ENSG00000156398 euGenes: HUgn118980
    ECgene: SFXN2 H-InvDB: SFXN2

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for SFXN2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for SFXN2 gene:
    Search GeneIP for patents involving SFXN2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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