• Gene id: 6285

Gene Summary

• Gene Symbol: S100B   Gene   UCSC   Ensembl
• Aliases: NEF, S100, S100-B, S100beta
• Gene name: S100 calcium binding protein B
• Alternate names: protein S100-B, S-100 calcium-binding protein, beta chain, S-100 protein subunit beta, S100 calcium-binding protein, beta (neural),
• Gene location: 21q22.3 (46605242: 46598603)     Exons: 3     NC_000021.9
• Gene summary(Entrez): 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 ce
• OMIM: 612828

Protein Summary

• Protein general information: P04271  
  • Name: Protein S100 B (S 100 protein beta chain) (S 100 protein subunit beta) (S100 calcium binding protein B)
  • Length: 92  
  • Mass: 10713
  • Tissue specificity: Although predominant among the water-soluble brain proteins, S100 is also found in a variety of other tissues.
• Sequence:

  MSELEKAMVALIDVFHQYSGREGDKHKLKKSELKELINNELSHFLEEIKEQEVVDKVMETLDNDGDGECDFQEFM
  AFVAMVTTACHEFFEHE

• Structural information:
  • Protein Domains: (13..4-)
    (/note="EF-hand-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00448-)
    (49..8-)
    (/note="EF-hand-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00448"-)
  • Interpro: IPR011992  IPR018247  IPR002048  IPR028481  IPR001751   IPR013787  
  • Prosite: PS00018 PS50222 PS00303
  • CDD: cd05027
  • PDB: 1MQ1 1UWO 2H61 2M49 2PRU 3CZT 3D0Y 3D10 3HCM 4XYN 5CSF 5CSI 5CSJ 5CSN 5D7F
  • PDBsum: 1MQ1 1UWO 2H61 2M49 2PRU 3CZT 3D0Y 3D10 3HCM 4XYN 5CSF 5CSI 5CSJ 5CSN 5D7F
  • STRING: ENSP00000291700
• Other Databases: GeneCards:  S100B  Malacards:  S100B

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005509	calcium ion binding	IEA	molecular function
GO:0008270	zinc ion binding	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005509	calcium ion binding	TAS	molecular function
GO:0007409	axonogenesis	TAS	biological process
GO:0007417	central nervous system development	TAS	biological process
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0045087	innate immune response	TAS	biological process
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005509	calcium ion binding	IEA	molecular function
GO:0005615	extracellular space	IEA	cellular component
GO:0008270	zinc ion binding	IEA	molecular function
GO:0008284	positive regulation of cell population proliferation	IEA	biological process
GO:0008360	regulation of cell shape	IEA	biological process
GO:0031643	positive regulation of myelination	IEA	biological process
GO:0050786	RAGE receptor binding	IEA	molecular function
GO:0050806	positive regulation of synaptic transmission	IEA	biological process
GO:0051384	response to glucocorticoid	IEA	biological process
GO:0060291	long-term synaptic potentiation	IEA	biological process
GO:0071456	cellular response to hypoxia	IEA	biological process
GO:2001015	negative regulation of skeletal muscle cell differentiation	IEA	biological process
GO:0007611	learning or memory	IEA	biological process
GO:0007613	memory	IEA	biological process
GO:0048168	regulation of neuronal synaptic plasticity	IEA	biological process
GO:0005102	signaling receptor binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0042802	identical protein binding	IEA	molecular function
GO:0043065	positive regulation of apoptotic process	IEA	biological process
GO:0048708	astrocyte differentiation	IEA	biological process
GO:0051597	response to methylmercury	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0043025	neuronal cell body	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0048471	perinuclear region of cytoplasm	IDA	cellular component
GO:0043123	positive regulation of I-kappaB kinase/NF-kappaB signaling	IDA	biological process
GO:0001726	ruffle	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0048471	perinuclear region of cytoplasm	IDA	cellular component
GO:0042803	protein homodimerization activity	IDA	molecular function
GO:0048306	calcium-dependent protein binding	IDA	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0048156	tau protein binding	ISS	molecular function
GO:0008270	zinc ion binding	ISS	molecular function
GO:0007611	learning or memory	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0050786	RAGE receptor binding	IPI	molecular function
GO:0042803	protein homodimerization activity	IPI	molecular function
GO:0005509	calcium ion binding	NAS	molecular function
GO:0044548	S100 protein binding	IPI	molecular function
GO:0044548	S100 protein binding	IPI	molecular function
GO:0005737	cytoplasm	ISS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005509	calcium ion binding	IEA	molecular function
GO:0008270	zinc ion binding	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005509	calcium ion binding	TAS	molecular function
GO:0007409	axonogenesis	TAS	biological process
GO:0007417	central nervous system development	TAS	biological process
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0045087	innate immune response	TAS	biological process
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005509	calcium ion binding	IEA	molecular function
GO:0005615	extracellular space	IEA	cellular component
GO:0008270	zinc ion binding	IEA	molecular function
GO:0008284	positive regulation of cell population proliferation	IEA	biological process
GO:0008360	regulation of cell shape	IEA	biological process
GO:0031643	positive regulation of myelination	IEA	biological process
GO:0050786	RAGE receptor binding	IEA	molecular function
GO:0050806	positive regulation of synaptic transmission	IEA	biological process
GO:0051384	response to glucocorticoid	IEA	biological process
GO:0060291	long-term synaptic potentiation	IEA	biological process
GO:0071456	cellular response to hypoxia	IEA	biological process
GO:2001015	negative regulation of skeletal muscle cell differentiation	IEA	biological process
GO:0007611	learning or memory	IEA	biological process
GO:0007613	memory	IEA	biological process
GO:0048168	regulation of neuronal synaptic plasticity	IEA	biological process
GO:0005102	signaling receptor binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0042802	identical protein binding	IEA	molecular function
GO:0043065	positive regulation of apoptotic process	IEA	biological process
GO:0048708	astrocyte differentiation	IEA	biological process
GO:0051597	response to methylmercury	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0043025	neuronal cell body	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0048471	perinuclear region of cytoplasm	IDA	cellular component
GO:0043123	positive regulation of I-kappaB kinase/NF-kappaB signaling	IDA	biological process
GO:0001726	ruffle	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0048471	perinuclear region of cytoplasm	IDA	cellular component
GO:0042803	protein homodimerization activity	IDA	molecular function
GO:0048306	calcium-dependent protein binding	IDA	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0048156	tau protein binding	ISS	molecular function
GO:0008270	zinc ion binding	ISS	molecular function
GO:0007611	learning or memory	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0050786	RAGE receptor binding	IPI	molecular function
GO:0042803	protein homodimerization activity	IPI	molecular function
GO:0005509	calcium ion binding	NAS	molecular function
GO:0044548	S100 protein binding	IPI	molecular function
GO:0044548	S100 protein binding	IPI	molecular function
GO:0005737	cytoplasm	ISS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function

Diseases

Associated diseases	References
Alzheimer's disease	PMID:20105309
Alzheimer's disease	PMID:19705461
Hypertension	PMID:21130083
urinary bladder cancer	PMID:17970044
Creutzfeldt-Jakob disease	PMID:20855493
migraine without aura	PMID:21293918
Cardiomyopathy	PMID:18068619
Parkinson's disease	PMID:21402140
Machado-Joseph disease	PMID:21743141
Multiple sclerosis	PMID:12076997
Schizophrenia	PMID:19539717
Schizophrenia	PMID:15670788
Neuromyelitis optica	PMID:21371524
Brain disease	PMID:20847541
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R