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

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: mouse all
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Genomic context

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_000021.9 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Serum S100B protein and white matter changes in schizophrenia before and after medication.
Title: Serum S100B protein and white matter changes in schizophrenia before and after medication.
Application value of serum S100B combined with glucose metabolism indexes in predicting adverse pregnancy outcomes of patients with severe preeclampsia.
Title: Application value of serum S100B combined with glucose metabolism indexes in predicting adverse pregnancy outcomes of patients with severe preeclampsia.
Effects of interventional vascular embolization at different timing on prognosis and serum S100 calcium-binding protein B level of patients with aneurysmal subarachnoid hemorrhage.
Title: Effects of interventional vascular embolization at different timing on prognosis and serum S100 calcium-binding protein B level of patients with aneurysmal subarachnoid hemorrhage.
The Multifaceted S100B Protein: A Role in Obesity and Diabetes?
Title: The Multifaceted S100B Protein: A Role in Obesity and Diabetes?
Detection the severity of organophosphate intoxication using sensitive serum biomarkers S100B and amyloid beta (Abeta) in Egyptian subjects.
Title: Detection the severity of organophosphate intoxication using sensitive serum biomarkers S100B and amyloid β (Aβ) in Egyptian subjects.
The Role of Alarmins in Osteoarthritis Pathogenesis: HMGB1, S100B and IL-33.
Title: The Role of Alarmins in Osteoarthritis Pathogenesis: HMGB1, S100B and IL-33.
Tau liquid-liquid phase separation is modulated by the Ca[2+] -switched chaperone activity of the S100B protein.
Title: Tau liquid-liquid phase separation is modulated by the Ca(2+) -switched chaperone activity of the S100B protein.
The S100B Protein: A Multifaceted Pathogenic Factor More Than a Biomarker.
Title: The S100B Protein: A Multifaceted Pathogenic Factor More Than a Biomarker.
S100B serum level: A relevant biomarker for the management of non-traumatic headaches in emergency care?
Title: S100B serum level: A relevant biomarker for the management of non-traumatic headaches in emergency care?
5-HT and S100beta values in evaluating severity of cognitive impairment after traumatic brain injury.
Title: 5-HT and S100β values in evaluating severity of cognitive impairment after traumatic brain injury.

Submit: New GeneRIF Correction See all GeneRIFs (428)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

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 EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

GDB:185164 (e-PCR)
- UniSTS:155419

GDB:185173 (e-PCR)
- UniSTS:155428

S100B_3127 (e-PCR)
- UniSTS:462506

GDB:603920 (e-PCR)
- UniSTS:158198

SHGC-5965 (e-PCR)
- UniSTS:25083

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

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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)

NM_006272.3 → NP_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:2 → 89

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

NC_000021.9 Reference GRCh38.p14 Primary Assembly

Range

46598604..46605082 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017028424.3 → XP_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:2 → 89

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 ...