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    S100B S100 calcium binding protein B [ Homo sapiens (human) ]

    Gene ID: 6285, updated on 2-Nov-2024

    Summary

    Official Symbol
    S100Bprovided by HGNC
    Official Full Name
    S100 calcium binding protein Bprovided by HGNC
    Primary source
    HGNC:HGNC:10500
    See related
    Ensembl:ENSG00000160307 MIM:176990; AllianceGenome:HGNC:10500
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    NEF; S100; S100-B; S100beta
    Summary
    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]
    Expression
    Biased expression in brain (RPKM 150.1), fat (RPKM 102.5) and 2 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See S100B in Genome Data Viewer
    Location:
    21q22.3
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 21 NC_000021.9 (46598604..46605082, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 21 NC_060945.1 (44984829..44991348, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 21 NC_000021.8 (48018517..48024995, complement)

    Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene DIP2A intronic transcript 1 Neighboring gene disco interacting protein 2 homolog A Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18606 Neighboring gene RNA, U6 small nuclear 396, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:48026033-48026534 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:48044299-48044799 Neighboring gene H3K27ac hESC enhancer GRCh37_chr21:48054684-48055354 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13424 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:48061114-48061614 Neighboring gene protein arginine methyltransferase 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13425 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18607 Neighboring gene uncharacterized LOC124905058 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:48087547-48088284 Neighboring gene DSTN pseudogene 1

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    The combination of a genome-wide association study of lymphocyte count and analysis of gene expression data reveals novel asthma candidate genes.
    EBI GWAS Catalog

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Vpr vpr HIV-1 Vpr upregulates the gene expression of S100B in human monocyte-derived dendritic cells PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RAGE receptor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables RAGE receptor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables S100 protein binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables S100 protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables calcium ion binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables calcium ion binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables calcium ion binding NAS
    Non-traceable Author Statement
    more info
    PubMed 
    enables calcium-dependent protein binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables calcium-dependent protein binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein homodimerization activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein homodimerization activity IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables tau protein binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables zinc ion binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in adaptive thermogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in axonogenesis TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in cell adhesion IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in central nervous system development TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in learning or memory ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in memory IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of canonical NF-kappaB signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in positive regulation of canonical NF-kappaB signal transduction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of cell population proliferation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in positive regulation of neuron differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of neuronal synaptic plasticity IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in sympathetic neuron projection extension ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    is_active_in extracellular region ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in extracellular region TAS
    Traceable Author Statement
    more info
     
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
     
    located_in neuronal cell body IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in perinuclear region of cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in ruffle IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    protein S100-B
    Names
    S-100 calcium-binding protein, beta chain
    S-100 protein subunit beta
    S100 calcium-binding protein, beta (neural)

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_006272.3NP_006263.1  protein S100-B

      See identical proteins and their annotated locations for NP_006263.1

      Status: REVIEWED

      Source sequence(s)
      AA310307, AP000339, BC001766, EB386131
      Consensus CDS
      CCDS13736.1
      UniProtKB/Swiss-Prot
      D3DSN6, P04271
      UniProtKB/TrEMBL
      A0A0S2Z4C5
      Related
      ENSP00000291700.4, ENST00000291700.9
      Conserved Domains (1) summary
      cd05027
      Location:289
      S-100B; S-100B domain found in proteins similar to S100B. S100B is a calcium-binding protein belonging to a large S100 vertebrate-specific protein family within the EF-hand superfamily of calcium-binding proteins. Note that the S-100 hierarchy, to which this ...

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000021.9 Reference GRCh38.p14 Primary Assembly

      Range
      46598604..46605082 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017028424.3XP_016883913.1  protein S100-B isoform X1

      UniProtKB/Swiss-Prot
      D3DSN6, P04271
      UniProtKB/TrEMBL
      A0A0S2Z4C5
      Related
      ENSP00000380769.1, ENST00000397648.1
      Conserved Domains (1) summary
      cd05027
      Location:289
      S-100B; S-100B domain found in proteins similar to S100B. S100B is a calcium-binding protein belonging to a large S100 vertebrate-specific protein family within the EF-hand superfamily of calcium-binding proteins. Note that the S-100 hierarchy, to which this ...

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060945.1 Alternate T2T-CHM13v2.0

      Range
      44984829..44991348 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054324737.1XP_054180712.1  protein S100-B isoform X1

      UniProtKB/Swiss-Prot
      D3DSN6, P04271
      UniProtKB/TrEMBL
      A0A0S2Z4C5