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FLASH GENE

Symbol

S100B

contributors: mct - updated : 24-04-2016

HGNC name	S100 calcium binding protein B
HGNC id	10500

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	21q22.3      Physical location : 48.018.530 - 48.025.035
Synonym name	S-100 calcium-binding protein, beta chain
	S100 calcium binding protein, beta (neural)
	S100 beta
Synonym symbol(s)	NEF, S100, S100beta

DNA

TYPE	functioning gene
STRUCTURE	6.51 kb     3 Exon(s)

10 Kb 5' upstream gene genomic sequence study

text structure

probably a locus control region LCR-S100B

MAPPING

cloned

Y

linked

N

status

confirmed

Map	see COL6A2 , PFKL PFKL

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_006272 3 - 1135 NP_006263 10.6 92 - 2008 17984171

EXPRESSION

Type

widely

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Cardiovascular heart         Hearing/Equilibrium ear       highly Nervous brain       highly Homo sapiens Reproductive female system breast mammary gland     Skin/Tegument skin       highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective cartilage       Homo sapiens Nervous peripherous

cells

System Cell Pubmed Species Stage Rna symbol Nervous astrocyte Homo sapiens Nervous oligodendrocyte Homo sapiens

cell lineage
cell lines
fluid/secretion	in human milk

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

two EF-hand calcium-binding motifs

mono polymer

homomer , dimer

HOMOLOGY

Homologene

FAMILY	S-100 family
	S-101 family

CATEGORY

regulatory

SUBCELLULAR LOCALIZATION	extracellular
	intracellular
	intracellular,cytoplasm
	intracellular,nucleus

basic FUNCTION	stimulating GUCY2D at micromolar concentration of Ca2+ for retinal specific activity
	S100B contributes to OPC (oligodendrocyte progenitor cell) differentiation in response to demyelinating insult
	involved in the regulation of a number of cellular processes such as cell cycle progression and differentiation
	may play a role in the phosphorylation state of cytoskeletal proteins
	promote beta amyloid precursor protein overexpression
	can contribute to neurofibrillary tangles formation in Alzheimer disease and in all other conditions in which neuroinflammation may have a crucial role
	calcium-binding protein with both extracellular and intracellular regulatory activities in the brain
	EF-hand protein that undergo a calcium-induced conformational change allowing them to interact with other proteins and produce a biological response
	possible function of S100B in assisting the cytoplasmic processing of proteins for proper folding and subcellular localization
	plays an important role in modulation and differentiation of neuronal and glial cells
	likely contributes to cancer progression by down-regulating the tumor suppressor protein, TP53
	can function as an alternative Ca2+ sensor for the potassium channel
	reduces myoblast apoptosis in an MEK-ERK1/2, AKT1, JNK, and NFKB-dependent manner
	might act an unconventional cytokine or a damage-associated molecular pattern protein playing a role in the pathophysiology of neurodegenerative disorders and inflammatory brain diseases
	might participate in the pathophysiology of brain inflammatory disorders via RAGE-dependent regulation of several inflammation-related events including activation and migration of microglia
	exerts pro-survival or pro-apoptotic effects depending on the concentration reached in the extracellular millieu (
	alters neuronal survival and dendrite extension via AGER-mediated NFKB signaling
	stimulates myoblast proliferation and inhibits myogenic differentiation by activating FGFR1 in a bFGF-dependent manner
	dimeric EF-hand protein that undergoes a calcium-induced conformational change and exposes a hydrophobic protein-binding surface
	association of S100A1, and to a lesser extent S100B, with the human articular chondrocytes (HAC) differentiated phenotype
	S100A1 and S100B are dispensable for endochondral ossification during skeletal development, most likely because their deficiency may be masked by other S100 proteins which have similar functions

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component	dimer of either two alpha chains, or two beta chains, or one alpha and one beta chain
	S100B formed a complex with TP53 in the presence of MDM2

INTERACTION

DNA

RNA

small molecule

protein	STK38
	interacting with a variety of target proteins, including the cytoskeletal proteins tubulin and glial fibrillary acidic protein
	interacts with the tubulin homologue FtsZ (E.Coli) modulating its activity in bacterial cell division
	interacting with DRD2 (enhances receptor signaling)
	transcriptional target of the SOX trio (SOX5, SOX6, SOX9) and mediate its inhibition of terminal differentiation of chondrocytes
	binding to the TP53 tetramerization domain (
	S100B-ATAD3A interaction could significantly increase the calcium affinity by decreasing the off rate of calcium, which was observed previously for S100B and for other S100-target protein interactions
	interaction between S100B and the N-terminal domain of MDM2, dependent on calcium
	binds to KCNH1 and shares the same binding sites with Calmodulin
	S100B receptor is AGER
	binding of S100B to AGER results in stimulation of AGER anti-mitogenic and promyogenic signaling
	binding partner of the dopamine D2 receptor
	S100A1, S100A2, S100A6, and S100B proteins specifically interact with PPP5C-tetratricopeptide repeat (TPR) domain

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional         chromosomal rearrangements implicated in several neurological, neoplastic, Alzheimer's disease, Down's syndrome, epilepsy, amyotrophic lateral sclerosis, melanoma, and type I diabetes constitutional     --over   in the amnion of pre-eclamptic patients and patients with pre-eclampsia with IUGR tumoral     --over   found in malignant melanoma contribute to cancer progression by down-regulating TP53 activity tumoral     --over   in malignant melanoma and to a lesser extent in thyroid carcinoma and renal cell carcinoma constitutional     --over   associated with the severity of cardiac dysfunction, renal insufficiency (RI) and an adverse prognosis in chronic heart failure (CHF) patients constitutional     --over   early elevations (up to 3 days) of S100B and ENO2 secondary to severe traumatic brain injury, predict deterioration to brain death, but more prominently associated with ENO2 than S100B constitutional     --over   in patients with structural lesions resulting from mild traumatic brain injuries

Susceptibility

to bipolar affective disorder with psychosis (BPAD)

Variant & Polymorphism other	variants predisposing to a psychotic subtype of BPAD, possibly via alteration of gene expression
	rs3788266, a functional promoter variant in the S100B gene where the presence of the G allele promotes increased gene expression and is associated with increased serum levels of the protein, strogly associated with BPAD

Candidate gene	for dyslexia
	parameter of glial activation and/or death in several conditions of brain injury
Marker	S100A1 and S100B expression are marker to develop potency assays for cartilage regeneration cell therapies
	increased serum GFAP, S100B, ENO2 are associated with acute CO poisoning, and these biomarkers can be useful in assessing the clinical status of patients with CO poisoning
Therapy target

ANIMAL & CELL MODELS

mice deficient of both the S100a1 and S100b genes displayed normal skeletal growth from embryonic stage to adulthood