GeneID: 383


Common Name: S100B Type: Gene
Chromosome: 21 (NC_000021.9) Locus: NM_006272.3 (S100B)
HUGO Symbol: S100B Full Name: S100 calcium binding protein B
Exons: 3 Introns: 2

The S100B gene codes for a calcium-binding protein of the S-100 protein family and is expressed at high levels in brain primarily by astrocytes. It functions as a neurotrophic factor and neuronal survival protein during development of the central nervous system. It has been shown to play a role in neuroinflammation and pain signaling. It is located on chromosome 21q22.3 near risk regions for Alzheimer’s disease and Down syndrome. Serum S100B levels correlated with increased risk for avascular necrosis in sickle cell disease (SCD), a known cause of chronic pain in SCD, but fewer episodes of pain crisis. Genetic variance in S100B gene associated with chronic pain in SCD.

Synonyms: NEF , S100 , S100-B , S100beta


Sequence Viewer

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Publications / Origin

  1. Jhun EH, Sadhu N, He Y, Yao Y, Wilkie DJ, Molokie RE, Wang ZJ, S100B single nucleotide polymorphisms exhibit sex-specific associations with chronic pain in sickle cell disease in a largely African-American cohort., PLoS ONE, 15(5), e0232721, 2020 PubMed
  2. Zhang X, Shah BN, Zhang W, Saraf SL, Nouraie M, Nekhai S, Machado RF, Gladwin MT, Gordeuk VR, S100B has pleiotropic effects on vaso-occlusive manifestations in sickle cell disease., Am. J. Hematol., 95(3), E62-E65, 2020 PubMed
Created on 2020-09-07 16:35:10, Last reviewed on 2020-09-08 09:26:06 (Show full history)

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