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

SFXN4 Gene

protein-coding   GIFtS: 49
GCID: GC10M120890

Sideroflexin 4

Alzheimer's & Parkinson's Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Sideroflexin 41 2
Breast Cancer Resistance Marker 12 3
BCRM12 3
sideroflexin-42

External Ids:    HGNC: 160881   Entrez Gene: 1195592   Ensembl: ENSG000001836057   UniProtKB: Q6P4A73   

Export aliases for SFXN4 gene to outside databases

Previous GC identifers: GC00U991058 GC10M120143 GC10M121032 GC10M120565 GC10M120535 GC10M114530


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

GeneCards Summary for SFXN4 Gene: 
SFXN4 (sideroflexin 4) is a protein-coding gene. Diseases associated with SFXN4 include sideroblastic anemia, and breast cancer. GO annotations related to this gene include cation transmembrane transporter activity. An important paralog of this gene is SFXN1.

UniProtKB/Swiss-Prot: SFXN4_HUMAN, Q6P4A7
Function: Potential iron transporter (By similarity)




(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000010.10  NT_030059.13  NC_018921.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SFXN4 gene promoter:
         AREB6   Pbx1a   NF-kappaB2   Msx-1   NF-kappaB   NF-kappaB1   Ik-1   Hlf   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSFXN4 promoter sequence
   Search SABiosciences Chromatin IP Primers for SFXN4

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SFXN4


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

Entrez Gene cytogenetic band: 10q26.11   Ensembl cytogenetic band:  10q26.11   HGNC cytogenetic band: 10q26.11

SFXN4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SFXN4 gene location

GeneLoc information about chromosome 10         GeneLoc Exon Structure

GeneLoc location for GC10M120890:  view genomic region     (about GC identifiers)

Start:
120,900,279 bp from pter      End:
120,925,204 bp from pter
Size:
24,926 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: SFXN4_HUMAN, Q6P4A7 (See protein sequence)
Recommended Name: Sideroflexin-4  
Size: 337 amino acids; 37998 Da
Subcellular location: Mitochondrion membrane; Multi-pass membrane protein (By similarity)
Secondary accessions: Q6WSU4 Q86TD9
Alternative splicing: 3 isoforms:  Q6P4A7-1   Q6P4A7-2   Q6P4A7-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for SFXN4: NX_Q6P4A7

Explore proteomics data for SFXN4 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q6P4A7

  • SFXN4 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SFXN4 Protein Expression
    REFSEQ proteins: NP_998814.1  
    ENSEMBL proteins: 
     ENSP00000347924   ENSP00000358127   ENSP00000414193   ENSP00000333200  

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    Browse Sino Biological Cell Lysates 
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    Cloud-Clone Corp. Proteins for SFXN4 

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion ----
    GO:0016020membrane ----
    GO:0016021integral to membrane IEA--
    GO:0031966mitochondrial membrane IEA--
    GO:0043231intracellular membrane-bounded organelle IDA--

    SFXN4 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    SFXN: Sideroflexins

    1 InterPro protein domain:
     IPR004686 Mtc

    Graphical View of Domain Structure for InterPro Entry Q6P4A7

    ProtoNet protein and cluster: Q6P4A7

    1 Blocks protein domain: IPB004686 Tricarboxylate/iron carrier

    UniProtKB/Swiss-Prot: SFXN4_HUMAN, Q6P4A7
    Similarity: Belongs to the sideroflexin family


    SFXN4 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SFXN4_HUMAN, Q6P4A7
    Function: Potential iron transporter (By similarity)

         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--
         
    SFXN4 for ontologies           About GeneDecksing


    Animal Models:
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SFXN4 
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    Inhib. RNA
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, 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 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for SFXN4

    STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

    5 Interacting proteins for SFXN4 (Q6P4A73 ENSP000003479244) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    BABAM1Q9NWV83, ENSP000003524084I2D: score=2 STRING: ENSP00000352408
    CLN3Q132863, ENSP000003530734I2D: score=3 STRING: ENSP00000353073
    TSC22D1Q157143, ENSP000003974354I2D: score=1 STRING: ENSP00000397435
    FYNP062413I2D: score=1 
    UBCENSP000003448184STRING: ENSP00000344818
    About this table

    Gene Ontology (GO): 3 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006812cation transport ----
    GO:0055072iron ion homeostasis IEA--
    GO:0055085transmembrane transport ----

    SFXN4 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, 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 SFXN4

    1 HMDB Compound for SFXN4    About this table
    CompoundSynonyms CAS #PubMed Ids
    IronArmco iron (see all 19)7439-89-6--

    Search CenterWatch for drugs/clinical trials and news about SFXN4

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, 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, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for SFXN4 gene (2 alternative transcripts): 
    NM_178867.3  NM_213649.1  

    Unigene Cluster for SFXN4:

    Sideroflexin 4
    Hs.655168  [show with all ESTs]
    Unigene Representative Sequence: BC050475
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000490417 ENST00000484960 ENST00000355697(uc001ldy.3 uc001leb.3 uc001lea.3)
    ENST00000461438 ENST00000369131 ENST00000466218 ENST00000419372 ENST00000462913
    ENST00000330036

    miRNA
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    2 QIAGEN miScript miRNA Assays for microRNAs that regulate SFXN4:
    hsa-miR-27a hsa-miR-27b
    SwitchGear 3'UTR luciferase reporter plasmidSFXN4 3' UTR sequence
    Inhib. RNA
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    Additional mRNA sequence: 

    AY269785.1 BC050475.1 BC063562.1 

    10 DOTS entries:

    DT.100663296  DT.87016601  DT.87016599  DT.100811192  DT.100811193  DT.100811186  DT.92431518  DT.100811183 
    DT.444577  DT.40274822 

    24/223 AceView cDNA sequences (see all 223):

    BX400877 AA828337 AA205530 NM_178867 NM_213650 AA044164 AI291700 AA731463 
    AI672926 BM930455 AI300110 AI675801 CA842907 CB306697 BM932205 CR608481 
    CR612192 CD105211 AW182383 AA972928 BQ186183 CR612933 BM930783 BM972933 

    GeneLoc Exon Structure

    5/6 Alternative Splicing Database (ASD) splice patterns (SP) for SFXN4 (see all 6)    About this scheme

    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:                    -           -                                                                                             


    ECgene alternative splicing isoforms for SFXN4

    (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

    SFXN4 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GACAAGGAAG
    SFXN4 Expression
    About this image


    See SFXN4 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SFXN4

    SOURCE GeneReport for Unigene cluster: Hs.655168
        SABiosciences Custom PCR Arrays for SFXN4
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    In Situ
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    (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 and fungi.

    Orthologs for SFXN4 gene from 6/14 species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Sfxn41 , 5 sideroflexin 41, 5 71.46(n)1
    61.34(a)1
      19 (56.52 cM)5
    942811  NM_053198.31  NP_444428.31 
     608372775 
    chicken
    (Gallus gallus)
    Aves SFXN41 sideroflexin 4 53.07(n)
    39.81(a)
      771604  XM_001234860.2  XP_001234861.1 
    lizard
    (Anolis carolinensis)
    Reptilia SFXN46
    Uncharacterized protein
    40(a)
    1 ↔ 1
    GL343399.1(480529-529575)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.89552 Xenopus laevis transcribed sequence with moderate similarity more 74.96(n)    CA980988.1 
    zebrafish
    (Danio rerio)
    Actinopterygii prdx32 peroxiredoxin 3 74.04(n)   373079  CK352837.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes FSF16
    Putative protein, predicted to be an alpha-isoprop...
    23(a)
    1 → many
    XV(831059-832042)


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SFXN4 gene
    SFXN12  SFXN52  SFXN22  SFXN32  

    SFXN4 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for SFXN4
    PGOHUM00000240367


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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

    10/663 SNPs in SFXN4 are shown (see all 663)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 10 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1893057071,2
    C--114529586(+) CAGGCA/GATCCA 1 -- ds50010--------
    rs1820522961,2
    --114529612(+) CAAAGC/TGCTGG 1 -- ds50010--------
    rs1502905121,2
    --114529628(+) CAGGCA/GTGAGC 1 -- ds50010--------
    rs1154836701,2
    F--114529636(+) AGCCAC/ACGCGC 1 -- ds50011Minor allele frequency- A:0.14WA 118
    rs1139648211,2
    C--114529640(+) ACCGCG/ACCTGG 1 -- ds50013Minor allele frequency- A:0.16CSA WA EA 240
    rs1860780751,2
    --114529647(+) CTGGCC/TGACAA 1 -- ds50010--------
    rs2019981611,2
    --114529718(+) GAAGC-/AGAGAGA 1 -- ds50010--------
    rs1900964251,2
    --114529743(+) GAGGAC/TGCTGG 1 -- ds50010--------
    rs79121151,2
    C,F,H--114529760(+) ACGGAG/AGAAGG 1 -- ds500110Minor allele frequency- A:0.16NS EA NA WA 782
    rs1449511741,2
    C--114529816(+) CCTGGA/CGGAGG 1 -- ds50010--------

    HapMap Linkage Disequilibrium report for SFXN4 (120900279 - 120925204 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for SFXN4:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv825583CNV Gain20364138

    SABiosciences Cancer Mutation PCR Assays
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    DNA2.0 Custom Variant and Variant Library Synthesis for SFXN4

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    6 diseases for SFXN4:    About MalaCards
    sideroblastic anemia    breast cancer    anemia    hepatitis b
    alzheimer's disease    hepatitis


    SFXN4 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015
    Genetic Association Database (GAD): SFXN4
    Human Genome Epidemiology (HuGE) Navigator: SFXN4 (3 documents)

    Export disorders for SFXN4 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 SFXN4 gene, integrated from 9 sources (see all 20):
    (articles sorted by number of sources associating them with SFXN4)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular cloning and characterization of a novel human putative transmembrane protein homologous to mouse sideroflexin associated with sideroblastic anemia. (PubMed id 14756423)1, 2, 3, 9 Zheng H.... Mao Y. (2003)
    2. Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (2010)
    3. A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. (PubMed id 16385451)1, 4 Grupe A....Goate A. (2006)
    4. 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)
    5. The DNA sequence and comparative analysis of human chromosome 10. (PubMed id 15164054)1, 2 Deloukas P.... Rogers J. (2004)
    6. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (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. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
    9. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
    10. New genetic associations detected in a host response study to hepatitis B vaccine. (PubMed id 20237496)1 Davila S....Seielstad M. (2010)

    (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: 119559 HGNC: 16088 AceView: SFXN4 Ensembl:ENSG00000183605 euGenes: HUgn119559
    ECgene: SFXN4 H-InvDB: SFXN4

    (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 SFXN4 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 SFXN4 gene:
    Search GeneIP for patents involving SFXN4

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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