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

S100B Gene

protein-coding   GIFtS: 72
GCID: GC21M048018

S100 calcium binding protein B

(Previous names: S100 calcium binding protein, beta (neural) )
 Explore 258 diseases affiliated with
S100B via our new
 Human Malady Compendium 
Biological research products
for S100B
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, and/or 11Nature:405,311-319 and CroW21)
About This Section

Aliases
S100 Calcium Binding Protein B1 2     S1002
S100beta1 2     S100-B2
S-100 Calcium-Binding Protein, Beta Chain2 11     Protein S100-B2
S-100 Protein Subunit Beta2 3     S100 Calcium-Binding Protein, Beta (Neural)2
S100 Calcium Binding Protein, Beta (Neural)1     S-100 Protein Beta Chain3
NEF2     S100 Calcium-Binding Protein B3

External Ids:    HGNC: 105001   Entrez Gene: 62852   Ensembl: ENSG000001603077   OMIM: 1769905   UniProtKB: P042713   

Export aliases for S100B gene to outside databases

Previous GC identifers: GC21M044525 GC21M046875 GC21M046874 GC21M046842 GC21M033398


(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 S100B:
The protein encoded by this gene is a member of the S100 family of proteins containing 2 EF-hand calcium-binding
motifs. S100 proteins are localized in the cytoplasm and/or nucleus of a wide range of cells, and involved in the
regulation of a number of cellular processes such as cell cycle progression and differentiation. S100 genes include at
least 13 members which are located as a cluster on chromosome 1q21; however, this gene is located at 21q22.3. This
protein may function in Neurite extension, proliferation of melanoma cells, stimulation of Ca2+ fluxes, inhibition of
PKC-mediated phosphorylation, astrocytosis and axonal proliferation, and inhibition of microtubule assembly.
Chromosomal rearrangements and altered expression of this gene have been implicated in several neurological,
neoplastic, and other types of diseases, including Alzheimer's disease, Down's syndrome, epilepsy, amyotrophic lateral
sclerosis, melanoma, and type I diabetes. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: S100B_HUMAN, P04271
Function: Weakly binds calcium but binds zinc very tightly-distinct binding sites with different affinities exist for
both ions on each monomer. Physiological concentrations of potassium ion antagonize the binding of both divalent
cations, especially affecting high-affinity calcium-binding sites. Binds to and initiates the activation of STK38 by
releasing autoinhibitory intramolecular interactions within the kinase. Interaction with AGER after myocardial
infarction may play a role in myocyte apoptosis by activating ERK1/2 and p53/TP53 signaling (By similarity). Could
assist ATAD3A cytoplasmic processing, preventing aggregation and favoring mitochondrial localization

Gene Wiki entry for S100B


(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, Whole Chromsome Sequence According to Nature (Cited Here with Permission):405,311-319 and CroW21)
About This Section
RefSeq DNA sequence:
NC_000021.8  NC_018932.1  NT_011515.12  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the S100B gene promoter:
         STAT1   AP-1   AP-2alpha isoform 3   AP-2alpha isoform 2   PPAR-gamma1   AP-2alpha isoform 4   PPAR-gamma2   AP-2alpha   AP-2alphaA   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidS100B promoter sequence

   Search SABiosciences Chromatin IP Primers for S100B

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat S100B


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

Entrez Gene cytogenetic band: 21q22.3   Ensembl cytogenetic band:  21q22.3   HGNC cytogenetic band: 21q22.3
Nature(405: 311-319) cytogenetic band:   21q22.3
S100B Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
S100B gene location
GeneLoc information about chromosome 21         GeneLoc Exon Structure

(about GC identifiers)
GC21M048018:   GeneLoc Nature:405,311-319
Start:
48,018,531 bp from pter       33,524,582 bp from centromere
End:
48,025,121 bp from pter 33,525,899 bp from centromere
Size:
6,591 bases 1,318 bases
Orientation:
minus strand minus strand

Whole chromosome sequencing:
cDNA sequence: M59488
genomic clones: PP9H11


(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: S100B_HUMAN, P04271 (See protein sequence)
Recommended Name: Protein S100-B  
Size: 92 amino acids; 10713 Da
Subunit: Dimer of either two alpha chains, or two beta chains, or one alpha and one beta chain. The S100B dimer binds
two molecules of STK38. Interacts with AGER (By similarity). The S100B dimer interacts with two molecules of CAPZA1.
Interacts with ATAD3A; this interaction probably occurs in the cytosol prior to ATAD3A mitochondrial targeting.
Interacts with CACYBP in a calcium-dependent manner (By similarity)
Subcellular location: Cytoplasm. Nucleus
Miscellaneous: In addition to metal-ion binding, this protein is involved with the regulation of protein
phosphorylation in brain tissue
6/8 PDB 3D structures from and Proteopedia for S100B (see all 8):
1MQ1 (3D)        1UWO (3D)        2H61 (3D)        2PRU (3D)        3CZT (3D)        3D0Y (3D)    
Secondary accessions: D3DSN6

Explore the universe of human proteins at neXtProt for S100B: NX_P04271

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P04271

  • S100B Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_006263.1  
    ENSEMBL proteins: 
     ENSP00000291700   ENSP00000356038   ENSP00000380769  
    Reactome Protein details: P04271
    Human Recombinant Protein Products: 
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    Novus Biologicals S100B Lysate
    Sino Biological Recombinant Protein for S100B
    ProSpec Recombinant Protein for S100B
    Uscn Proteins for S100B

    Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001726ruffle IDA10913138
    GO:0005576extracellular region TAS--
    GO:0005615extracellular space IEA--
    GO:0005634nucleus IDA10913138
    GO:0005737cytoplasm ISS--


    S100B for ontologies           About GeneDecksing



    S100B Antibody Products: 
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    Uscn ELISAs and CLIAs for S100B


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

    S100B for domains           About GeneDecksing

    5 InterPro domains/families:
     IPR018247 EF_Hand_1_Ca_BS
     IPR011992 EF-hand-like_dom
     IPR002048 EF_hand_Ca-bd
     IPR013787 S100_Ca-bd_sub
     IPR001751 S100/CaBP-9k_CS

    Graphical View of Domain Structure for InterPro Entry P04271

    ProtoNet protein and cluster: P04271

    1 Blocks protein family: IPB001751 Calcium-binding protein

    UniProtKB/Swiss-Prot: S100B_HUMAN, P04271
    Similarity: Belongs to the S-101 family
    Similarity: Contains 2 EF-hand domains


    (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: S100B_HUMAN, P04271
    Function: Weakly binds calcium but binds zinc very tightly-distinct binding sites with different affinities exist for
    both ions on each monomer. Physiological concentrations of potassium ion antagonize the binding of both divalent
    cations, especially affecting high-affinity calcium-binding sites. Binds to and initiates the activation of STK38 by
    releasing autoinhibitory intramolecular interactions within the kinase. Interaction with AGER after myocardial
    infarction may play a role in myocyte apoptosis by activating ERK1/2 and p53/TP53 signaling (By similarity). Could
    assist ATAD3A cytoplasmic processing, preventing aggregation and favoring mitochondrial localization

         Genatlas biochemistry entry for S100B:
    S100 calcium binding protein,beta polypeptide,neuronal,probably including locus control region LCR-S100B,stimulating
    GUCY2D at micromolar concentration of Ca2+ for retinal specific activity

    miRNA
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    miRTarBase miRNAs that target S100B:
    hsa-mir-29a (MIRT003735), hsa-mir-29b (MIRT003736)

    OriGene 3'-UTR Clone: S100B
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat S100B
    5 QIAGEN miScript miRNA Assays for microRNAs that regulate S100B:
    hsa-miR-330-3p hsa-miR-516a-3p hsa-miR-516b* hsa-miR-551b* hsa-miR-583
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat S100B

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    Gene Ontology (GO): 5/10 molecular function terms (GO ID links to tree view) (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005102receptor binding ----
    GO:0005509calcium ion binding NAS9519411
    GO:0005515protein binding IPI16189514
    GO:0008270zinc ion binding ISS--
    GO:0042802identical protein binding IPI10913138


    S100B for ontologies           About GeneDecksing


    Animal Models:
         Mouse knock-outs for S100B: S100btm1Ito S100btm1Daoh
         3 MGI mutant phenotypes (inferred from 2 alleles(MGI details for S100b):
     behavior/neurological  integument  normal 

    S100B 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 - 5/8 super-pathways (see all 8About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Immune System
    Immune System1.00
    Innate Immune System0.46
    2Neuroscience
    Neuroscience1.00
    3Ca, cAMP and Lipid Signaling
    Ca, cAMP and Lipid Signaling1.00
    4Transcription of GFAP and S100B
    Transcription of GFAP and S100B1.00
    5Advanced glycosylation endproduct receptor signaling
    Advanced glycosylation endproduct receptor signaling1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    2 Cell Signaling Technology (CST) Pathways for S100B
        Ca, cAMP and Lipid Signaling
    Neuroscience

    5/7        Reactome Pathways for S100B (see all 7)
        Advanced glycosylation endproduct receptor signaling
    Signal Transduction
    Signaling by ERBB4
    Transcription of GFAP and S100B
    Immune System



    S100B for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for S100B

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/36 Interacting proteins for S100B (P042711, 2, 3 ENSP000002917004) via UniProtKB, MINT, STRING, and/or I2D (see all 36)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    AGERQ151092, 3, ENSP000003642174MINT-5224202 MINT-5224259 MINT-5224222 MINT-5224235 I2D: score=2 STRING: ENSP00000364217
    TP53P046372, 3, ENSP000002693054MINT-7905162 MINT-7905317 I2D: score=3 STRING: ENSP00000269305
    MDM2Q009872, 3, ENSP000004172814MINT-7905220 MINT-7905043 I2D: score=2 STRING: ENSP00000417281
    S100A1P232971, 3, ENSP000002921694EBI-458391,EBI-743686 I2D: score=6 STRING: ENSP00000292169
    CALM1P621583, ENSP000003494674I2D: score=1 STRING: ENSP00000349467
    About this table

    Gene Ontology (GO): 5/17 biological process terms (GO ID links to tree view) (see all 17):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007409axonogenesis TAS8202493
    GO:0007417central nervous system development TAS8202493
    GO:0007611learning or memory ISS--
    GO:0007613memory IEA--
    GO:0008283cell proliferation TAS8202493


    S100B 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

    S100B for compounds           About GeneDecksing

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

    Browse Tocris compounds for S100B

    1 HMDB Compound for S100B    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--

    5 DrugBank Compounds for S100B    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Calcium-- --target--17624933 17612632 17536784 17515952
    (Z)-2-[2-(4-methylpiperazin-1-yl)benzyl]diazenecarbothioamide-- --target--10592235
    2-[(5-hex-1-yn-1-ylfuran-2-yl)carbonyl]-N-methylhydrazinecarbothioamide-- --target--10592235
    N-Formylmethionine-- --target--10592235
    Olopatadine-- 113806-05-6targetother/unknown11944917

    10/96 Novoseek chemical compound relationships for S100B gene (see all 96)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    s 100 64 35 9870671 (6), 8878020 (5), 11169510 (2), 16338157 (2) (see all 9)
    mucicarmine 62.6 3 11858401 (1), 15239680 (1), 10199475 (1)
    reticulin 57 5 1653908 (1), 11858401 (1), 2354404 (1), 15597767 (1) (see all 5)
    hematoxylin 56.9 19 15725798 (3), 7512798 (1), 16949932 (1), 19094127 (1) (see all 16)
    paraffin 52.7 19 7524376 (1), 7668412 (1), 10199466 (1), 8050903 (1) (see all 17)
    b 723 34.8 6 9808124 (1), 12481020 (1), 1693028 (1), 7678320 (1) (see all 6)
    orcein 29.3 1 16796160 (1)
    glycogen 24.3 3 8214396 (1), 8088719 (1), 15547779 (1)
    calcium 24.1 187 8688416 (6), 9428666 (4), 8805590 (3), 15882069 (3) (see all 99)
    tyrosine 19.1 56 18073204 (4), 15681409 (4), 9705913 (3), 9218412 (2) (see all 33)

    Search CenterWatch for drugs/clinical trials and news about S100B 

    (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 S100B gene: 
    NM_006272.2  

    Unigene Cluster for S100B:

    S100 calcium binding protein B
    Hs.422181  [show with all ESTs]
    Unigene Representative Sequence: BC041935
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000291700(uc002zju.1) ENST00000367071(uc002zjv.1) ENST00000397648


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    Additional cDNA sequence: 

    BC001766.1 BC041935.1 CR542123.1 

    12 DOTS entries:

    DT.215194  DT.100758003  DT.95157592  DT.121136780  DT.121136796  DT.95120732  DT.100758001  DT.95157596 
    DT.100758004  DT.100758005  DT.121136789  DT.95157594 

    24/265 AceView cDNA sequences (see all 265):

    AW206399 BE856467 BI491621 BM694813 CR542123 BM695249 CB054226 BI496877 
    BI856702 BI756271 AW137786 BU731627 BI494752 AA808065 AW206771 AA831469 
    AI391682 AI339135 AA363992 BE465410 BG708355 BG706520 BU162478 CD172282 

    GeneLoc Exon Structure

    5/6 Alternative Splicing Database (ASD) splice patterns (SP) for S100B (see all 6)    About this scheme

    ExUns: 1a · 1b · 1c · 1d · 1e ^ 2a · 2b · 2c ^ 3 ^ 4a · 4b · 4c · 4d · 4e
    SP1:                                -     -                                             
    SP2:                                -                                                   
    SP3:                                -     -           -                                 
    SP4:                          -     -     -           -                                 
    SP5:                                -                 -                                 


    ECgene alternative splicing isoforms for S100B

    (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

    S100B expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GCCGTGTAGA

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

    About this image

    S100B expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    4 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    BoneZeugopod Epiphyseal EndChondrocytesBone, Cartilage
    BrainBlood Brain BarrierPostnatal Endothelial CellsBlood Brain Barrier, Endothelium
    LimbZeugopodMesenchymal Condensate CellsBone, Cartilage
    AdiposeInterscapular Brown Adipose DepotAdipose
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 2 LifeMap Cells 
    NameCategory
    Intermediate limb mesenchymal cells (ILM cells) (Primary Cell)Bone, Cartilage, Limb
    GABA neuron-like cells (Generation of motor ...)Brain

    See S100B Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for S100B

    SOURCE GeneReport for Unigene cluster: Hs.422181

    UniProtKB/Swiss-Prot: S100B_HUMAN, P04271
    Tissue specificity: Although predominant among the water-soluble brain proteins, S100 is also found in a variety of
    other tissues

        SABiosciences Expression via Pathway-Focused PCR Arrays including S100B: 
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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 chordates.

    Orthologs for S100B gene from 2/8 species (see all 8)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves S100B1 S100 calcium binding protein B 83.33(n)
    84.78(a)
      424038  XM_001233034.2  XP_001233035.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufq18b102 wufq18b10 73.83(n)   336344  BI427905.1 


    ENSEMBL Gene Tree for S100B (if available)
    TreeFam Gene Tree for S100B (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for S100B gene
    S100A112  S100A62  S100A12  S100A122  S100A82  S100A42  S100A32  S100A102  
    S100Z2  S100P2  S100A22  S100A52  S100A92  
    18/22 SIMAP similar genes for S100B using alignment to 2 protein entries:     S100B_HUMAN (see all proteins) (see all similar genes):
    S100A1    S100A5    S100A6    S100A16    S100Z    S100A4
    S100A12    HRNR    S100A9    S100P    S100A11    RPTN
    S100A8    S100A3    FLG2    S100A10    S100A13    S100G

    S100B 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

    10/169 NCBI SNPs in S100B are shown (see all 169    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 21 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1169235171,2
    C,F,--48018073(+) GGCACG/CTGACT 1 -- ds50011Minor allele frequency- C:0.03NA 120
    rs1503093821,2
    --48018089(+) GGACCA/GTTGGC 1 -- ds50010--------
    rs1824464531,2
    --48018104(+) CCCCTC/TCCTGG 1 -- ds50010--------
    rs99815821,2
    C,F,--48018207(+) GCAGAA/CGGGAA 1 -- ds50015Minor allele frequency- C:0.18WA CSA NA 244
    rs99805841,2
    C,F,H,--48018216(+) AAGCCG/ACGTTT 1 -- ds50016Minor allele frequency- A:0.21NS WA CSA 338
    rs1143420941,2
    F,--48018247(+) ATGGCG/ACTGGA 1 -- ds50011Minor allele frequency- A:0.05WA 118
    rs1130686531,2
    C,--48018412(+) CACGCG/ACCACC 1 -- ds50011Minor allele frequency- A:0.50NA 2
    rs1490678131,2
    --48018425(+) GCCAGA/GCTACT 1 -- ds50010--------
    rs622257201,2
    --48018492(+) TCCTGG/ACCTTG 1 -- ds50011Minor allele frequency- A:0.50NA 2
    rs99836981,2
    C,F,H,--48018543(+) TTGAAC/TGCAGG 1 -- ut31 ese322Minor allele frequency- T:0.13NS EA NA WA CSA 1774

    HapMap Linkage Disequilibrium report for S100B (48018531 - 48025121 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 2 variations for S100B
         2 CNVs: 8897 3235
    Human Gene Mutation Database (HGMD): S100B

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    (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

    S100B for disorders           About GeneDecksing

    OMIM gene information: 176990    OMIM disorders: --

    20/258 diseases for S100B (see all 258):    About MalaCards
    amyotrophic lateral sclerosis    lateral sclerosis    malignant peripheral nerve sheath tumor    rosai-dorfman disease
    melanoma    polymorphous low-grade adenocarcinoma    epithelioid malignant peripheral nerve sheath tumor    down syndrome
    langerhans-cell histiocytosis    glutaric acidemia type i    erdheim-chester disease    primitive neuroectodermal tumor
    desmoplastic small round cell tumor    lymphoepithelioma-like carcinoma    malignant giant cell tumor of soft parts    dermatofibrosarcoma protuberans
    relapsing-remitting multiple sclerosis    spinal cord ischemia    alzheimer's disease    supratentorial primitive neuroectodermal tumor

    6 diseases from the University of Copenhagen DISEASES database for S100B:
    Cerebrovascular accident     Melanoma     Down syndrome     Schizophrenia
    Alzheimer's disease     Labyrinthine dysfunction

    10/96 Novoseek disease relationships for S100B gene (see all 96)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    myoepithelioma 81.9 5 1694334 (1), 8380682 (1), 1718079 (1), 8986967 (1) (see all 5)
    melanoma 80 442 8791271 (5), 15234232 (5), 10570381 (5), 19104452 (5) (see all 99)
    tumors 77.2 652 12759535 (4), 18454690 (4), 1380226 (4), 8986967 (4) (see all 99)
    granular cell tumor 76.2 9 7817938 (1), 8878020 (1), 12579997 (1), 15590438 (1) (see all 8)
    perineurioma 75.2 3 9221216 (1), 12459629 (1), 18434767 (1)
    mpnst 75.2 14 14508395 (3), 11580072 (1), 10584703 (1), 17910355 (1) (see all 9)
    malignant peripheral nerve sheath tumors 74.8 8 11145248 (1), 11732802 (1), 17119986 (1), 18480004 (1) (see all 7)
    schwannoma 73.6 32 15487453 (2), 18480004 (2), 1710946 (2), 1708642 (2) (see all 22)
    sarcoma clear cell 73.3 3 14666625 (1), 11211309 (1), 2004337 (1)
    immunodeficiency 72.1 241 9811718 (3), 1571013 (2), 12370346 (2), 9153233 (2) (see all 99)

    Genetic Association Database (GAD): S100B
    Human Genome Epidemiology (HuGE) Navigator: S100B (10 documents)

    Export disorders for S100B 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 S100B gene, integrated from 9 sources (see all 1777):
    (articles sorted by number of sources associating them with S100B)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning and expression of the human S100 beta gene. (PubMed id 2394738)1, 2, 3 Allore R.J.... Marks A. (1990)
    2. Demonstration of heterodimer formation between S100B and S100A6 in the yeast two-hybrid system and human melanoma. (PubMed id 9925766)1, 2, 9 Yang Q.... Marks A. (1999)
    3. The calcium-dependent interaction between S100B and t he mitochondrial AAA ATPase ATAD3A and the role of this complex in the cytoplas mic processing of ATAD3A. (PubMed id 20351179)1, 2, 9 Gilquin B....Baudier J. (2010)
    4. The calcium binding protein, S100B, is increased in the amniotic fluid of women with intra-amniotic infection/inflammation and preterm labor with intact or ruptured membranes. (PubMed id 17624933)1, 7, 9 Friel L.A....Espinoza J. (2007)
    5. Amide exchange shows calcium-induced conformational changes are transmitted to the dimer interface of S100B. (PubMed id 17536784)1, 7 Marlatt N.M. and Shaw G.S. (2007)
    6. SNPs and haplotypes in the S100B gene reveal association with schizophrenia. (PubMed id 15670788)1, 4 Liu J....He L. (2005)
    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 novel S100 target conformation is revealed by the solution structure of the Ca2+-S100B-TRTK-12 complex. (PubMed id 12480931)1, 2 McClintock K.A. and Shaw G.S. (2003)
    9. The DNA sequence of human chromosome 21. (PubMed id 10830953)1, 2 Hattori M....Yaspo M.L. (2000)
    10. A novel calcium-sensitive switch revealed by the structure of human S100B in the calcium-bound form. (PubMed id 9519411)1, 2 Smith S.P. and Shaw G.S. (1998)

    (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)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 6285 HGNC: 10500 AceView: S100B Ensembl:ENSG00000160307 euGenes: HUgn6285
    ECgene: S100B H-InvDB: S100B

    (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 S100B Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for S100B Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for S100B gene:
    Search GeneIP for patents involving S100B

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



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