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

Gene ID: 6285, updated on 4-Jan-2025

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
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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: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 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

General gene information

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables RAGE receptor binding  
enables RAGE receptor binding PubMed 
enables S100 protein binding  
enables S100 protein binding PubMed 
enables calcium ion binding  
enables calcium ion binding PubMed 
enables calcium ion binding PubMed 
enables calcium-dependent protein binding  
enables calcium-dependent protein binding PubMed 
enables identical protein binding PubMed 
enables protein binding PubMed 
enables protein homodimerization activity PubMed 
enables protein homodimerization activity PubMed 
enables tau protein binding  
enables zinc ion binding PubMed 
Process Evidence Code Pubs
involved_in adaptive thermogenesis  
involved_in axonogenesis PubMed 
involved_in cell adhesion  
involved_in central nervous system development PubMed 
involved_in learning or memory  
involved_in memory  
involved_in positive regulation of canonical NF-kappaB signal transduction  
involved_in positive regulation of canonical NF-kappaB signal transduction PubMed 
involved_in positive regulation of cell population proliferation  
involved_in positive regulation of neuron differentiation  
involved_in regulation of neuronal synaptic plasticity  
involved_in sympathetic neuron projection extension  
Component Evidence Code Pubs
is_active_in cytoplasm  
located_in cytoplasm PubMed 
located_in cytoplasm  
located_in cytosol  
is_active_in extracellular region  
located_in extracellular region  
is_active_in extracellular space  
located_in intracellular membrane-bounded organelle  
located_in neuronal cell body  
located_in nucleoplasm  
is_active_in nucleus  
located_in nucleus PubMed 
located_in perinuclear region of cytoplasm PubMed 
located_in ruffle 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)

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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
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