Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 
or upload a file of gene symbols


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

SOX3 Gene

protein-coding   GIFtS: 60
GCID: GC0XM139585

SRY (sex determining region Y)-box 3

(Previous name: panhypopituitarism )
(Previous symbol: PHP)
 Explore 31 diseases affiliated with
SOX3 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for SOX3    

Aliases
for SOX3 gene

(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 31 2     GHDX2
PHP1 2     PHPX2
MRGH2 5     SOXB2
Panhypopituitarism1     Transcription Factor SOX-32

External Ids:    HGNC: 111991   Entrez Gene: 66582   Ensembl: ENSG000001345957   OMIM: 3134305   UniProtKB: P412253   

Export aliases for SOX3 gene to outside databases

Previous GC identifers: GC0XM134169 GC0XM136443 GC0XM137530 GC0XM138290 GC0XM139310 GC0XM139412 GC0XM128852


Summaries
for SOX3 gene

(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 SOX3:
This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation
of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional
regulator after forming a protein complex with other proteins. Mutations in this gene have been associated with
X-linked mental retardation with growth hormone deficiency. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: SOX3_HUMAN, P41225
Function: Transcription factor required during the formation of the hypothalamo-pituitary axis. May function as a
switch in neuronal development. Keeps neural cells undifferentiated by counteracting the activity of proneural
proteins and suppresses neuronal differentiation. Required also within the pharyngeal epithelia for craniofacial
morphogenesis. Controls a genetic switch in male development. Is necessary for initiating male sex determination by
directing the development of supporting cell precursors (pre-Sertoli cells) as Sertoli rather than granulosa cells (By
similarity)

Gene Wiki entry for SOX3


Genomic Views
for SOX3 gene

(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_000023.10  NC_018934.1  NT_011786.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SOX3 gene promoter:
         Max1   Egr-3   GATA-3   Pax-5   Egr-1   FOXD3   Nkx5-1   AREB6   Nkx6-1   FOXC1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: SOX3 promoter sequence
   Search SABiosciences Chromatin IP Primers for SOX3

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SOX3


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

Entrez Gene cytogenetic band: Xq27.1   Ensembl cytogenetic band:  Xq27.1   HGNC cytogenetic band: Xq27

SOX3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SOX3 gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XM139585:  view genomic region     (about GC identifiers)

Start:
 139,585,152 bp from pter      End:
 139,587,225 bp from pter
Size:
 2,074 bases      Orientation:
 minus strand

Proteins
for SOX3 gene

(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: SOX3_HUMAN, P41225 (See protein sequence)
Recommended Name: Transcription factor SOX-3  
Size: 446 amino acids; 45210 Da
Subunit: Interacts with SOX2 and FGFR1 (By similarity)
Subcellular location: Nucleus
Caution: Was originally (PubMed:1614875) termed SOX-9
Secondary accessions: P35714 Q5JWI3 Q9NP49

Explore the universe of human proteins at neXtProt for SOX3: NX_P41225

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P41225

    • SOX3 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_005625.2  
    ENSEMBL proteins: 
     ENSP00000359567  

    Human Recombinant Protein Products: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate: SOX3
    OriGene Custom Protein Services for SOX3 
    GenScript Custom Purified and Recombinant Proteins Services for SOX3
    Novus Biologicals SOX3 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for SOX3

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--


    SOX3 for ontologies           About GeneDecksing



    SOX3 Antibody Products: 
    EMD Millipore Mono- and Polyclonal Antibodies for the study of SOX3
    R&D Systems Antibodies for SOX3
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for SOX3 
    GenScript Custom Superior Antibodies Services for SOX3
    Novus Biologicals SOX3 Antibodies
    Search for Antibodies for SOX3 at Abcam  
    Uscn Antibodies for SOX3
    ThermoFisher Antibodies for SOX3

    Assay Products for SOX3: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Immunoassay Development
    Browse OriGene Fluorogenic Cell Assay Kits
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for SOX3
    Browse Enzo Life Sciences for kits & assays
    Uscn ELISAs and CLIAs for SOX3

    Protein Domains /
    Families
    for SOX3 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    SOX3 for domains           About GeneDecksing

    2 InterPro domains/families:
     IPR009071 HMG_superfamily
     IPR022097 TF_SOX

    Graphical View of Domain Structure for InterPro Entry P41225

    ProtoNet protein and cluster: P41225

    UniProtKB/Swiss-Prot: SOX3_HUMAN, P41225
    Similarity: Contains 1 HMG box DNA-binding domain


    Function
    for SOX3 gene

    (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: SOX3_HUMAN, P41225
    Function: Transcription factor required during the formation of the hypothalamo-pituitary axis. May function as a
    switch in neuronal development. Keeps neural cells undifferentiated by counteracting the activity of proneural
    proteins and suppresses neuronal differentiation. Required also within the pharyngeal epithelia for craniofacial
    morphogenesis. Controls a genetic switch in male development. Is necessary for initiating male sex determination by
    directing the development of supporting cell precursors (pre-Sertoli cells) as Sertoli rather than granulosa cells (By
    similarity)

         Genatlas biochemistry entry for SOX3:
    SRY related HMG box gene 3,found in human fetal brain and spinal cord,deleted in a male patient with hemophilia and
    mental retardation (and testicular failure),modulator of LINE retroposons promoter activity

    miRNA
    Products:            		Browse 3'-UTR reporter clones for miRNA target validation
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SOX3
    8 QIAGEN miScript miRNA Assays for microRNAs that regulate SOX3:
    hsa-miR-3163 hsa-miR-483-3p hsa-miR-607 hsa-miR-3180-3p hsa-miR-3143 hsa-miR-340 hsa-miR-4282 hsa-miR-664*
    SwitchGear 3'UTR luciferase reporter plasmid: SOX3 3' UTR sequence
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for SOX3 (see all 4)
    OriGene shRNA RFP: SOX3
    OriGene siRNA: SOX3
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SOX3

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for SOX3

    Clone
    Products:             		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for SOX3 (see all 2)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for SOX3
    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector: SOX3 (NM_005634)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SOX3
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SOX3 

    Cell Line
    Products:             		GenScript Custom overexpressing Cell Line Services for SOX3
    Search LifeMap BioReagents cell lines for SOX3

    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SOX3

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000979RNA polymerase II core promoter sequence-specific DNA binding ISS--
    GO:0001106RNA polymerase II transcription corepressor activity ISS--
    GO:0003677DNA binding TAS8625802


    SOX3 for ontologies           About GeneDecksing


    Animal Models:
         Mouse knock-out Sox3tm1.1Lja for SOX3
         9 MGI mutant phenotypes (inferred from 3 alleles) (MGI details for Sox3):
     behavior/neurological  craniofacial  endocrine/exocrine gland  growth/size  homeostasis/metabolism 
     mortality/aging  nervous system  no phenotypic analysis  reproductive system 

    SOX3 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for SOX3 gene

    (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
    1Transcription factors in neurogenesis
    		Transcription factors in neurogenesis1.00
    2Selected targets of ESR1
    		Selected targets of ESR11.00
    3Rho Family GTPases
    		Molecular Mechanisms of Cancer0.51

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    2 EMD Millipore Pathways for SOX3
        Transcription factors in neurogenesis
    Selected targets of ESR1

    1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for SOX3
        Molecular Mechanisms of Cancer



    SOX3 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for SOX3

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    2 Interacting proteins for SOX3 (P412253 ENSP000003595674) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PAX6P263673, ENSP000003684014I2D: score=1 STRING: ENSP00000368401
    SUMO1P631653, ENSP000003760764I2D: score=1 STRING: ENSP00000376076
    About this table

    Gene Ontology (GO): 5/12 biological process terms (GO ID links to tree view) (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter ----
    GO:0007417central nervous system development TAS8625802
    GO:0007423sensory organ development ISS--
    GO:0007530sex determination IMP--
    GO:0009887organ morphogenesis IEA--


    SOX3 for ontologies           About GeneDecksing



    Drugs & Compounds
    for SOX3 gene

    (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

    SOX3 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for SOX3
    1 Novoseek chemical compound relationship for SOX3 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    alanine 24 5 12428212 (2), 17127446 (1), 15800844 (1), 18174732 (1)

    Search CenterWatch for drugs/clinical trials and news about SOX3 

    Transcripts
    for SOX3 gene

    (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 SOX3 gene: 
    NM_005634.2  

    Unigene Cluster for SOX3:

    SRY (sex determining region Y)-box 3
    Hs.157429  [show with all ESTs]
    Unigene Representative Sequence: NM_005634
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000370536(uc004fbd.1)

    miRNA
    Products:             		Browse 3'-UTR reporter clones for miRNA target validation
    Browse OriGene MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SOX3
    8 QIAGEN miScript miRNA Assays for microRNAs that regulate SOX3:
    hsa-miR-3163 hsa-miR-483-3p hsa-miR-607 hsa-miR-3180-3p hsa-miR-3143 hsa-miR-340 hsa-miR-4282 hsa-miR-664*
    SwitchGear 3'UTR luciferase reporter plasmid: SOX3 3' UTR sequence
    Inhib. RNA
    Products:             		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for SOX3 (see all 4)
    OriGene shRNA RFP: SOX3
    OriGene siRNA: SOX3
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SOX3
    Clone
    Products:             		 OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for SOX3 (see all 2)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for SOX3
    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector: SOX3 (NM_005634)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SOX3
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SOX3 
    Primer
    Products:            		 OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for SOX3
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat SOX3
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SOX3
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SOX3

    Additional cDNA sequence: 

    AK313820.1 BC093863.1 BC093865.1 X65665.1 X71137.1 

    1 DOTS entry:

    DT.405021 

    10 AceView cDNA sequences:

    NM_005634 AI359981 AW015864 AI568613 AI566947 AI937355 X71137 AI368680 
    AI824954 BG716730 

    GeneLoc Exon Structure


    Expression
    for SOX3 gene

    (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

    SOX3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TTGAGTTGGT

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

    SOX3 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    8 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    Neural EctodermNeural PlateSpinal Neural Plate CellsNeural Ectoderm
    Neural TubeMesencephalonNeural Fold CellsNeural Ectoderm
    Neural TubeProsencephalonNeural Fold CellsNeural Ectoderm
    Neural TubeRhombencephalonNeural Fold CellsNeural Ectoderm
    Spinal CordPresumptive Spinal CordNeural Fold CellsNeural Ectoderm
    TestisSeminiferous TubulesSpermatogonium Type AGerm Cells, Male Gametocytes
    BrainHypothalamusBrain
    Neural TubeTelencephalonNeural Tube
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 5 LifeMap Cells 
    NameCategory
    CyT49 (Embryonic Stem Cell)Early Embryo, Inner Cell Mass
    N2/LSB/S/F8-induced cells (Generation of midbra...)
    Ventral/hypothalamic-like neurons (Generation of midbra...)
    Dorsal forebrain-like neurons (Generation of midbra...)Brain
    N2/LSB induced-cells (Generation of midbra...)

    See SOX3 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SOX3

    SOURCE GeneReport for Unigene cluster: Hs.157429
        SABiosciences Custom PCR Arrays for SOX3
    Primer
    Products:    		 OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for SOX3
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat SOX3
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SOX3
    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SOX3
    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SOX3

    Orthologs
    for SOX3 gene

    (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 SOX3 gene from 4/17 species (see all 17)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves SOX31 SRY (sex determining region Y)-box 3 78.9(n)
    82.91(a)    		   374019  NM_204195.1  NP_989526.1 
    African clawed frog
    (Xenopus laevis)    		 Amphibia Xl.222 X.laevis mRNA for SOX3 protein 78.85(n)    Y07542.1 
    zebrafish
    (Danio rerio)    		 Actinopterygii sox31 SRY-box containing gene 3 74.56(n)
    76.67(a)    		   30529  NM_001001811.2  NP_001001811.2 
    worm
    (Caenorhabditis elegans)    		 Secernentea sox-46
    		 Protein SOX-4
    		 22(a)
    		 possible ortholog
    		 X(3505427-3506378)


    ENSEMBL Gene Tree for SOX3 (if available)
    TreeFam Gene Tree for SOX3 (if available) 

    Paralogs
    for SOX3 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SOX3 gene
    SOX132  SOX22  SOX42  SOX12  SOX142  SOX92  SOX122  SOX152  
    SOX182  SOX52  ENSG000002587242  SOX212  SOX172  SOX62  SOX112  SOX82  
    SRY2  SOX102  SOX72  
    5 SIMAP similar genes for SOX3 using alignment to 1 protein entry:     SOX3_HUMAN:
    SOX1    SOX10    SOX2    SOX21    SOX15

    SOX3 for paralogs           About GeneDecksing



    Genomic Variants
    for SOX3 gene

    (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

    10/50 NCBI SNPs in SOX3 are shown (see all 50)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr X posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1821729251,2
    		--139584788(+) TTTCAA/GCGGCC 1 -- ds50010--------
    rs1475615151,2
    		--139585293(+) AAATCA/GCCAAC 1 -- ut310--------
    rs1879161311,2
    		--139585312(+) ATTGGA/GCAGAA 1 -- ut310--------
    rs1406523381,2
    		--139585462(+) GGGCGC/TAGGCG 1 -- ut310--------
    rs1930238751,2
    		--139585553(+) ATTTTC/GAAATG 1 -- ut310--------
    rs1856673921,2
    		--139585570(+) AATAAC/TCCTGG 1 -- ut310--------
    rs454513931,2
    		C--139586494(+) GCGGCG/TGCGGC 2 A syn10--------
    rs1513109781,2
    		F--139586554(+) GGCAGG/CGAGTA 2 /S syn11Minor allele frequency- C:0.00NA 4314
    rs455866311,2
    		C,F,--139586617(+) TCCGGA/GTACTC 2 Y syn11Minor allele frequency- G:0.02NA 4534
    rs1385307851,2
    		C,F,--139586623(+) TACTCC/TTTCAT 2 K syn11Minor allele frequency- T:0.00NA 4540

    HapMap Linkage Disequilibrium report for SOX3 (139585152 - 139587225 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 6 variations for SOX3
         6 Indels: 97021 83788 83787 97022 83785 83786
    Human Gene Mutation Database (HGMD): SOX3

    Locus Specific Mutation Databases (LSDB): SOX3

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing SOX3
    DNA2.0 Custom Variant and Variant Library Synthesis for SOX3

    Disorders / Diseases
    for SOX3 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    SOX3 for disorders           About GeneDecksing

    OMIM gene information: 313430   
    OMIM disorders: 300123  312000  
    UniProtKB/Swiss-Prot: SOX3_HUMAN, P41225
  • Defects in SOX3 are a cause of panhypopituitarism X-linked (PHPX) [MIM:312000]. Affected individuals have
    • absent infundibulum, anterior pituitary hypoplasia, and ectopic posterior pituitary
  • Defects in SOX3 are the cause of mental retardation X-linked with isolated growth hormone deficiency (MRXGH)
    • [MIM:300123]
  • Defects in SOX3 are the cause of 46,XX sex reversal type 3 (SRXX3) [MIM:300833]. A condition in which male
    • gonads develop in a genetic female (female to male sex reversal). Note=Copy number variations (CNV) encompassing or in
    close proximity to SOX3 are responsible for XX male reversal. These variations include two duplications of
    approximately 123 kb and 85 kb, the former of which spans the entire SOX3 gene; a 343 kb deletion immediately upstream
    of SOX3 that is probably responsible of altered regulation (and not increased dosage) of SOX3; a large (approximately
    6 Mb) duplication that encompasses SOX3 and at least 18 additional distally located genes. Its proximal breakpoint
    falls within the SOX3 regulatory region. This large rearrangement has been found in a patient with XX male reversal
    and a complex phenotype that also includes a scrotal hypoplasia, microcephaly, developmental delay, and growth
    retardation

    20/31 diseases for SOX3 (see all 31):    About MalaCards
    growth hormone deficiency    mental retardation, x-linked, with isolated growth hormone deficiency    borjeson-forssman-lehmann syndrome    mental retardation, x-linked
    panhypopituitarism    isolated growth hormone deficiency    panhypopituitarism x-linked    46 xy gonadal dysgenesis
    lambert-eaton myasthenic syndrome    blue cone monochromacy    infundibular hypoplasia and hypopituitarism    gonadal dysgenesis
    pituitary hormone deficiency    combined pituitary hormone deficiency    peters anomaly    sex reversal
    hypopituitarism    myasthenic syndrome    short stature    pituitary hypoplasia

    4 diseases from the University of Copenhagen DISEASES database for SOX3:
    Hypopituitarism     Pituitary hypoplasia     Holoprosencephaly     Blue cone monochromacy

    4 Novoseek disease relationships for SOX3 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    hypopituitarism 84.4 5 15338277 (1), 17127446 (1), 16097007 (1), 18174732 (1)
    growth hormone deficiency 65.8 3 12428212 (2), 15800844 (1)
    mental retardation 48.8 7 12428212 (4), 15338277 (1), 8111369 (1), 18174732 (1)
    small cell lung cancer 24.5 1 10760287 (1)

    Genetic Association Database (GAD): SOX3
    Human Genome Epidemiology (HuGE) Navigator: SOX3 (3 documents)

    Export disorders for SOX3 gene to outside databases

    Publications
    for SOX3 gene

    (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 SOX3 gene, integrated from 9 sources (see all 66):
    (articles sorted by number of sources associating them with SOX3)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Over- and underdosage of SOX3 is associated with infundibular hypoplasia and hypopituitarism. (PubMed id 15800844)1, 2, 3, 9 Woods K.S.... Dattani M.T. (2005)
    2. Transcription factor SOX3 is involved in X-linked mental retardation with growth hormone deficiency. (PubMed id 12428212)1, 2, 9 Laumonnier F.... Briault S. (2002)
    3. SOX3 is an X-linked gene related to SRY. (PubMed id 8111369)1, 2, 9 Stevanovic M.... Goodfellow P.N. (1993)
    4. Identification of SOX3 as an XX male sex reversal gen e in mice and humans. (PubMed id 21183788)1, 2 Sutton E....Thomas P. (2011)
    5. The DNA sequence of the human X chromosome. (PubMed id 15772651)1, 2 Ross M.T.... Bentley D.R. (2005)
    6. X-linked sex-determining region Y box 3 (SOX3) gene mutations are uncommon in men with idiopathic oligoazoospermic infertility. (PubMed id 15292361)1, 4 Raverot G....Jameson J.L. (2004)
    7. 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)
    8. A conserved family of genes related to the testis determining gene, SRY. (PubMed id 1614875)1, 2 Denny P.... Ashworth A. (1992)
    9. PBX1 and MEIS1 up-regulate SOX3 gene expression by di rect interaction with a consensus binding site within the basal promoter region . (PubMed id 19799567)1, 9 Mojsin M. and Stevanovic M. (2010)
    10. The male-determining gene SRY is a hybrid of DGCR8 an d SOX3, and is regulated by the transcription factor CP2. (PubMed id 19902333)1, 9 Sato Y....Nakahori Y. (2010)

    External Searches for SOX3 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing SOX3 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 6658 HGNC: 11199 AceView: SOX3 Ensembl:ENSG00000134595 euGenes: HUgn6658
    ECgene: SOX3 H-InvDB: SOX3

    Other Databases showing SOX3 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing SOX3 gene

    (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 SOX3 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SOX3

    Intellectual Property
    for SOX3 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for SOX3 gene:
    Search GeneIP for patents involving SOX3

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



    Products
    for SOX3 gene

    (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, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, 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
    Advanced Cell Diagnostics
    About This Section

     Browse Small Molecules at EMD Millipore
     EMD Millipore Mono- and Polyclonal Antibodies for the study of SOX3
     Browse for Gene Knock-down Tools from EMD Millipore
     Browse Purified and Recombinant Proteins at EMD Millipore
     Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
     Browse Kits and Assays available from EMD Millipore
     
     EMD Millipore Custom Antibody & Bulk Services
     EMD Millipore Preclinical / Clinical Development Services
     EMD Millipore Immunoassay Services
     EMD Millipore Target Screening & Profiling Services

      
     Antibodies for SOX3 (SOX3)   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Kinase Activity Assays/Reagents  
     Browse ELISpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Multiplex/Array Assay Kits/Reagents  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Phosphatase Activity Assays/Reagents   Browse Recombinant/Natural Proteins  
     Browse OriGene Antibodies   OriGene shRNA RFP for SOX3  
     OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for SOX3   OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for SOX3  
     OriGene Protein Over-expression Lysate for SOX3   Browse OriGene Fluorogenic Cell Assay Kits  
     OriGene siRNA for SOX3   Browse 3'-UTR reporter clones for miRNA target validation  
     OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for SOX3   OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for SOX3  
     Browse OriGene GFP tagged cDNA clones in CMV expression vector   Browse OriGene MicroRNA Expression Plasmids  
     Browse OriGene basic RS shRNAs   Browse OriGene validated miRNA SYBR primer pairs  
     Browse OriGene full length recombinant human proteins expressed in human HEK293 cells   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for SOX3   OriGene Custom Protein Services for SOX3  
     OriGene Custom Immunoassay Development  

         		 
     QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat SOX3
     QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing SOX3
     QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SOX3
     QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SOX3
     QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SOX3
     QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SOX3
     GenScript Custom Purified and Recombinant Proteins Services for SOX3 GenScript cDNA clones with any tag delivered in your preferred vector for SOX3
     GenScript Custom Assay Services for SOX3 GenScript Custom Superior Antibodies Services for SOX3
     GenScript Custom overexpressing Cell Line Services for SOX3 CloneReady with Over 120,000 Genes
     Gene Synthesis: Any Gene in Any Vector Vector-based siRNA and miRNA, Ready for Transfection
     Gene Mutant Library, Variants up to 10^11 Plasmid Preparation
     Custom Peptide Services
     Search for Antibodies & Assays

     Regulatory tfbs in SOX3 promoter
     Search Chromatin IP Primers for SOX3
     RT2 qPCR Primer Assay in human, mouse, rat SOX3
     GNC Network for SOX3
     SABiosciences PCR Arrays including human, mouse, rat SOX3
     Search Tocris compounds for SOX3
     Browse Sino Biological Proteins and Antibodies
     Browse Sino Biological cDNA Clones
     Antibodies/Proteins Production Services
     Rabbit Monoclonal Antibody Platform
     Bulk Purchasing
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies
     Novus Tissue Slides
     SOX3 antibodies
     SOX3 lysates
     Search for Antibodies for SOX3 at Abcam
     See all of Abcam's Antibodies, Kits and Proteins for SOX3
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins




     SOX3 Proteins, Antibodies, CLIAs, and ELISAs
     Search LifeMap BioReagents cell lines for SOX3
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SOX3
     SwitchGear 3'UTR luciferase reporter plasmids for SOX3
     SwitchGear Promoter luciferase reporter plasmids for SOX3
     ThermoFisher Antibodies for SOX3
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SOX3
           
    GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 27 Apr 2013

    View Random Gene

    Category
    VWF
    (GIFTS: 73)
    von Willebrand factor
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 

    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Copyright © 1996-2013 , Weizmann Institute of Science. All Rights Reserved.
    Hot genes      Disease genes      SOX3 gene at Home site.
    hostname: 356980-web2.xennexinc.com index build: 100 solr: 1.4