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

SOX12 Gene

protein-coding   GIFtS: 49
GCID: GC20P000306

SRY (sex determining region Y)-box 12

(Previous name: SRY (sex determining region Y)-box 22 )
(Previous symbol: SOX22)
  Search for SOX12
in our new
 Human Malady Compendium 
Biological research products
for SOX12
    

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

Aliases
SRY (Sex Determining Region Y)-Box 121 2     SRY-Related HMG-Box Gene 222
SOX221 2 3 5     Transcription Factor SOX-122
SRY (Sex Determining Region Y)-Box 221     Protein SOX-223
SOX-22 Protein2     

External Ids:    HGNC: 111981   Entrez Gene: 66662   Ensembl: ENSG000001777327   OMIM: 6019475   UniProtKB: O153703   

Export aliases for SOX12 gene to outside databases

Previous GC identifers: GC20P000294 GC20P000301 GC20P000254


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

Entrez Gene summary for SOX12:
Members of the SOX family of transcription factors are characterized by the presence of a DNA-binding high mobility
group (HMG) domain, homologous to the HMG box of sex-determining region Y (SRY). Forming a subgroup of the HMG domain
superfamily, SOX proteins have been implicated in cell fate decisions in a diverse range of developmental processes.
SOX transcription factors have diverse tissue-specific expression patterns during early development and have been
proposed to act as target-specific transcription factors and/or as chromatin structure regulatory elements. The
protein encoded by this gene was identified as a SOX family member based on conserved domains, and its expression in
various tissues suggests a role in both differentiation and maintenance of several cell types. (provided by RefSeq,
Jan 2013)

UniProtKB/Swiss-Prot: SOX12_HUMAN, O15370
Function: Binds to the sequence 5'-AACAAT-3' (By similarity)

Gene Wiki entry for SOX12


(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_000020.10  NC_018931.1  NT_011387.8  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SOX12 gene promoter:
         HFH-3   Spz1   Tal-1   GATA-1   E47   C/EBPalpha   CREB   CHOP-10   FOXI1   deltaCREB   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for SOX12

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SOX12


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

Entrez Gene cytogenetic band: 20p13   Ensembl cytogenetic band:  20p13   HGNC cytogenetic band: 20p13

SOX12 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SOX12 gene location

GeneLoc information about chromosome 20         GeneLoc Exon Structure

GeneLoc location for GC20P000306:  view genomic region     (about GC identifiers)

Start:
306,207 bp from pter      End:
310,868 bp from pter
Size:
4,662 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: SOX12_HUMAN, O15370 (See protein sequence)
Recommended Name: Transcription factor SOX-12  
Size: 315 amino acids; 34122 Da
Subcellular location: Nucleus
Sequence caution: Sequence=AAB69627.1; Type=Frameshift; Positions=135, 201;
Secondary accessions: Q5D038 Q9NUD4

Explore the universe of human proteins at neXtProt for SOX12: NX_O15370

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_O15370

  • SOX12 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_008874.2  
    ENSEMBL proteins: 
     ENSP00000441671   ENSP00000347646  

    Human Recombinant Protein Products: 
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    OriGene Custom Protein Services for SOX12 
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    Novus Biologicals SOX12 Proteins
    Novus Biologicals SOX12 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for SOX12

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005575cellular_component ND--
    GO:0005634nucleus IEA--
    GO:0032993protein-DNA complex IEA--


    SOX12 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for SOX12


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

    SOX12 for domains           About GeneDecksing

    2 InterPro domains/families:
     IPR009071 HMG_superfamily
     IPR017386 SOX-12/11/4a

    Graphical View of Domain Structure for InterPro Entry O15370

    ProtoNet protein and cluster: O15370

    UniProtKB/Swiss-Prot: SOX12_HUMAN, O15370
    Similarity: Contains 1 HMG box DNA-binding domain


    (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: SOX12_HUMAN, O15370
    Function: Binds to the sequence 5'-AACAAT-3' (By similarity)

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SOX12
    8/122 QIAGEN miScript miRNA Assays for microRNAs that regulate SOX12 (see all 122):
    hsa-miR-411* hsa-miR-3678-3p hsa-miR-3194-5p hsa-miR-1914* hsa-miR-1260b hsa-miR-578 hsa-miR-632 hsa-miR-30d
    SwitchGear 3'UTR luciferase reporter plasmidSOX12 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for SOX12 (see all 4)
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    Clone
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SOX12

    Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000976transcription regulatory region sequence-specific DNA binding ISS--
    GO:0001077RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription ISS--
    GO:0001105RNA polymerase II transcription coactivator activity ISS--
    GO:0003677DNA binding NAS9215677


    SOX12 for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for SOX12:
     Increased cell death HMECs cel 

    Animal Models:
         Mouse knock-out Sox12tm2.1Weg for SOX12
         13 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Sox12):
     cardiovascular system  craniofacial  embryogenesis  growth/size  hematopoietic system 
     immune system  limbs/digits/tail  mortality/aging  nervous system  no phenotypic analysis 
     normal  reproductive system  skeleton 

    SOX12 for phenotypes           About GeneDecksing


    (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

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Rho Family GTPases
    Molecular Mechanisms of Cancer0.51

    1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for SOX12
        Molecular Mechanisms of Cancer


    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for SOX12

    STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

    3 Interacting proteins for SOX12 (ENSP000003476464) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SMAD4ENSP000003415514STRING: ENSP00000341551
    SRMENSP000003661564STRING: ENSP00000366156
    --ENSP000003791484STRING: ENSP00000379148
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006357regulation of transcription from RNA polymerase II promoter NAS9215677
    GO:0021510spinal cord development ISS--
    GO:0045165cell fate commitment IEP9215677
    GO:0045944positive regulation of transcription from RNA polymerase II promoter ISS--
    GO:0065004protein-DNA complex assembly IEA--


    SOX12 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 SOX12
    Search CenterWatch for drugs/clinical trials and news about SOX12 

    (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 SOX12 gene: 
    NM_006943.3  

    Unigene Cluster for SOX12:

    SRY (sex determining region Y)-box 12
    Hs.43627  [show with all ESTs]
    Unigene Representative Sequence: NM_006943
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000544632 ENST00000342665(uc002wdh.3)

    miRNA
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    8/122 QIAGEN miScript miRNA Assays for microRNAs that regulate SOX12 (see all 122):
    hsa-miR-411* hsa-miR-3678-3p hsa-miR-3194-5p hsa-miR-1914* hsa-miR-1260b hsa-miR-578 hsa-miR-632 hsa-miR-30d
    SwitchGear 3'UTR luciferase reporter plasmidSOX12 3' UTR sequence
    Inhib. RNA
    Products:
         
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SOX12
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SOX12

    Additional cDNA sequence: 

    BC028103.1 BC067361.1 

    9 DOTS entries:

    DT.453042  DT.101964090  DT.97841906  DT.97816664  DT.120814608  DT.86854650  DT.97841908  DT.100750162 
    DT.97841909 

    24/127 AceView cDNA sequences (see all 127):

    BM670751 AI161357 BU176133 BM699154 AI051187 NM_006943 AI805407 AA425701 
    BX477861 AW105302 BU860084 BU634219 AI685644 AW247052 AA128513 BQ923317 
    BF508404 AA428551 AW028670 AW196342 AI669236 BU179354 BU539596 BQ639636 

    GeneLoc Exon Structure


    (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

    SOX12 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TGAGTGAAGA

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

    About this image
    See SOX12 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SOX12

    SOURCE GeneReport for Unigene cluster: Hs.43627

    UniProtKB/Swiss-Prot: SOX12_HUMAN, O15370
    Tissue specificity: Expressed most abundantly in the CNS. Also expressed in fetal brain and kidney and adult heart,
    pancreas, testis and ovary. Other tissues were only weakly positive

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SOX12

    (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 SOX12 gene from 5/19 species (see all 19)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves LOC7771791 transcription factor SOX-12-like 78.26(n)
    78.88(a)
      777179  XM_003642466.1  XP_003642514.1 
    lizard
    (Anolis carolinensis)
    Reptilia SOX126
    --
    47(a)
    1 ↔ 1
    GL343346.1(1139219-1140190)
    zebrafish
    (Danio rerio)
    Actinopterygii sox126
    SRY (sex determining region Y)-box 12
    23(a)
    1 ↔ 1
    11(25123721-25125485)
    fruit fly
    (Drosophila melanogaster)
    Insecta Sox146
    Sox box protein 14
    11(a)
    1 → many
    2R(19866744-19872700)
    worm
    (Caenorhabditis elegans)
    Secernentea sox-46
    sem-26
    SEx Muscle abnormal family member (sem-2)
    19(a)
    16(a)
    possible ortholog
    1 ↔ many
    X(3505427-3506378)
    I(5205106-5215221)


    ENSEMBL Gene Tree for SOX12 (if available)
    TreeFam Gene Tree for SOX12 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SOX12 gene
    SOX132  SOX22  SOX42  SOX12  SOX142  SOX32  SOX92  SOX152  
    SOX182  SOX52  ENSG000002587242  SOX212  SOX62  SOX172  SOX112  SOX82  
    SRY2  SOX102  SOX72  
    5 SIMAP similar genes for SOX12 using alignment to 1 protein entry:     SOX12_HUMAN:
    SRY    SOX10    SOX15    SOX14    SOX11

    SOX12 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

    10/128 NCBI SNPs in SOX12 are shown (see all 128    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 20 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs60368281,2
    C,F,A,--255751(+) gcctgA/Gctcat 1 -- int1 tfbs31Minor allele frequency- G:0.14WA 118
    rs61068981,2
    --255786(+) aggttC/Tcacca 1 -- int10--------
    rs791427671,2
    F,--255913(+) AACATT/CGCCTA 1 -- int11Minor allele frequency- C:0.08WA 118
    rs60497621,2
    C,F,A,H,--255966(+) AAAACC/AACCAT 1 -- int16Minor allele frequency- A:0.06NS EA CSA WA 535
    rs760632361,2
    C,--256089(+) AAGGTT/GTTACA 1 -- int13Minor allele frequency- G:0.19CSA WA 121
    rs60497891,2
    C,F,A,H,--256216(+) CTCCAA/GTTTCT 1 -- int114Minor allele frequency- G:0.16NS NA EA WA 1750
    rs22684341,2
    C,F,--256236(+) CCACCC/TCCACC 1 -- int12Minor allele frequency- T:0.07EA WA 1606
    rs621914211,2
    --256617(+) CCACGC/ACCCCA 1 -- int11Minor allele frequency- A:0.50NA 2
    rs735745721,2
    C,--256792(+) CAGCTC/GAGGAC 1 -- int12Minor allele frequency- G:0.08WA 120
    rs61383371,2
    C--256823(+) GCCCCG/TCGGCC 1 -- int10--------

    HapMap Linkage Disequilibrium report for SOX12 (306207 - 310868 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for SOX12: --

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing SOX12
    DNA2.0 Custom Variant and Variant Library Synthesis for SOX12

    (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

    SOX12 for disorders           About MalaCards

    SOX12 for disorders           About GeneDecksing

    OMIM gene information: 601947    OMIM disorders: --


    Export disorders for SOX12 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 SOX12 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with SOX12)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. SOX22 is a new member of the SOX gene family, mainly expressed in human nervous tissue. (PubMed id 9215677)1, 2, 3, 9 Jay P.... Berta P. (1997)
    2. 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)
    3. The DNA sequence and comparative analysis of human chromosome 20. (PubMed id 11780052)1, 2 Deloukas P....Rogers J. (2001)
    4. Sox12 deletion in the mouse reveals nonreciprocal red undancy with the related Sox4 and Sox11 transcription factors. (PubMed id 18505825)1 Hoser M....Sock E. (2008)
    5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)
    6. Floppy SOX: mutual induced fit in hmg (high-mobility group) box-DNA recognition. (PubMed id 11222737)1 Weiss M.A. (2001)
    7. Phylogeny of the SOX family of developmental transcription factors based on sequence and structural indicators. (PubMed id 11071752)1 Bowles J....Koopman P. (2000)
    8. Normalization and subtraction: two approaches to facilitate gene discovery. (PubMed id 8889548)1 Bonaldo M.F.... Soares M.B. (1996)
    9. Initial assessment of human gene diversity and expression patterns based upon 83 million nucleotides of cDNA sequence. (PubMed id 7566098)1 Adams M.D....White O. (1995)
    10. Studies on the effect of various agents on the maturat ion of thymus stem cells. (PubMed id 185058)1 Singh U. and Owen J.J. (1975)

    (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: 6666 HGNC: 11198 AceView: SOX12 Ensembl:ENSG00000177732 euGenes: HUgn6666
    ECgene: SOX12 H-InvDB: SOX12

    (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 SOX12 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 SOX12 gene:
    Search GeneIP for patents involving SOX12

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



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