Human Gene S100B (ENST00000291700.9_7) from GENCODE V47lift37
  Description: S100 calcium binding protein B (from RefSeq NM_006272.3)
Gencode Transcript: ENST00000291700.9_7
Gencode Gene: ENSG00000160307.10_9
Transcript (Including UTRs)
   Position: hg19 chr21:48,018,517-48,024,995 Size: 6,479 Total Exon Count: 3 Strand: -
Coding Region
   Position: hg19 chr21:48,019,276-48,022,328 Size: 3,053 Coding Exon Count: 2 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr21:48,018,517-48,024,995)mRNA (may differ from genome)Protein (92 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsHGNC
MalacardsMGIOMIMPubMedReactomeUniProtKB
WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: S100B_HUMAN
DESCRIPTION: RecName: Full=Protein S100-B; AltName: Full=S-100 protein beta chain; AltName: Full=S-100 protein subunit beta; AltName: Full=S100 calcium-binding protein B;
FUNCTION: Weakly binds calcium but binds zinc very tightly- distinct binding sites with different affinities exist for both ions on each monomer. Physiological concentrations of potassium ion antagonize the binding of both divalent cations, especially affecting high-affinity calcium-binding sites. Binds to and initiates the activation of STK38 by releasing autoinhibitory intramolecular interactions within the kinase. Interaction with AGER after myocardial infarction may play a role in myocyte apoptosis by activating ERK1/2 and p53/TP53 signaling (By similarity). Could assist ATAD3A cytoplasmic processing, preventing aggregation and favoring mitochondrial localization.
SUBUNIT: Dimer of either two alpha chains, or two beta chains, or one alpha and one beta chain. The S100B dimer binds two molecules of STK38. Interacts with AGER (By similarity). The S100B dimer interacts with two molecules of CAPZA1. Interacts with ATAD3A; this interaction probably occurs in the cytosol prior to ATAD3A mitochondrial targeting. Interacts with CACYBP in a calcium- dependent manner (By similarity).
INTERACTION: Self; NbExp=4; IntAct=EBI-458391, EBI-458391; P23297:S100A1; NbExp=5; IntAct=EBI-458391, EBI-743686; P31949:S100A11; NbExp=5; IntAct=EBI-458391, EBI-701862; P06703:S100A6; NbExp=5; IntAct=EBI-458391, EBI-352877;
SUBCELLULAR LOCATION: Cytoplasm. Nucleus.
TISSUE SPECIFICITY: Although predominant among the water-soluble brain proteins, S100 is also found in a variety of other tissues.
MISCELLANEOUS: In addition to metal-ion binding, this protein is involved with the regulation of protein phosphorylation in brain tissue.
SIMILARITY: Belongs to the S-101 family.
SIMILARITY: Contains 2 EF-hand domains.
WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/S100BID42195ch21q22.html";

-  Primer design for this transcript
 

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Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
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To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: S100B
Diseases sorted by gene-association score: syringoma (28), middle cerebral artery infarction (22), letterer-siwe disease (20), amelanotic melanoma (18), malignant giant cell tumor of soft parts (18), neurofibroma (18), myxopapillary ependymoma (18), anaplastic ependymoma (17), juvenile xanthogranuloma (17), granular cell tumor (16), spondylosis (16), malignant iris melanoma (15), cutaneous fibrous histiocytoma (14), perineurioma (14), traumatic brain injury (14), malignant peripheral nerve sheath tumor (13), head injury (13), aggressive digital papillary adenocarcinoma (13), meningeal melanocytoma (13), sclerosing perineurioma (13), generalized eruptive histiocytosis (13), hydromyelia (12), malignant giant cell tumor (12), localized hypertrophic neuropathy (12), histiocytosis (12), olfactory neuroblastoma (12), fibrous meningioma (12), subependymal giant cell astrocytoma (12), gemistocytic astrocytoma (12), pleomorphic adenoma (12), down syndrome (11), epithelioid malignant peripheral nerve sheath tumor (11), chordoma (11), rosai-dorfman disease (11), papillary ependymoma (11), clear cell sarcoma (10), intraneural perineurioma (10), eccrine porocarcinoma (10), reticular perineurioma (10), monophasic synovial sarcoma (10), mixed type thymoma (10), non-functioning pituitary adenoma (10), malignant triton tumor (10), pleomorphic liposarcoma (10), neurilemmoma (10), ependymoma (10), embryonal sarcoma (10), microglandular adenosis (10), creutzfeldt-jakob disease (9), dysembryoplastic neuroepithelial tumor (9), carotid stenosis (9), ossifying fibromyxoid tumor (9), adenomas, salivary gland pleomorphic, somatic (9), lentigo maligna melanoma (9), cerebral primitive neuroectodermal tumor (9), myxofibrosarcoma (9), ganglioglioma (9), ectopic cushing syndrome (9), primary hepatic neuroendocrine carcinoma (9), odontogenic myxoma (9), bednar tumor (9), pineocytoma (9), intracranial cysts (9), asphyxia neonatorum (9), uveal melanoma (9), brain injury (8), clear cell adenoma (8), extraosseous ewing's sarcoma (8), cardiac arrest (8), chordoid glioma (8), dermatofibrosarcoma protuberans (8), parachordoma (8), neuroma (8), spindle cell rhabdomyosarcoma (8), myopericytoma (8), hidradenocarcinoma (8), supratentorial primitive neuroectodermal tumor (7), chordoid meningioma (7), acute mountain sickness (7), hypoganglionosis (7), functioning pituitary adenoma (7), gastrointestinal stromal tumor (7), primary progressive multiple sclerosis (7), hemangioblastoma (7), secondary progressive multiple sclerosis (7), spiradenoma (7), histiocytic sarcoma (7), bacterial meningitis (7), osteochondroma (7), leiomyosarcoma (6), tuberous sclerosis (6), human immunodeficiency virus infectious disease (6), spindle cell sarcoma (6), optic nerve glioma (6), dendritic cell tumor (6), tracheoesophageal fistula (6), malignant conjunctival melanoma (6), polymorphous low-grade adenocarcinoma (6), angiocentric glioma (6), hepatic encephalopathy (6), psychotic disorder (6), hemangiopericytoma, malignant (5), desmoplastic small round cell tumor (5), meningioma, familial (5), retinitis pigmentosa 14 (5), sleep apnea (5), spinal chordoma (5), neuronal ceroid-lipofuscinoses (5), cellular schwannoma (5), megalencephaly (4), inflammatory myofibroblastic tumor (4), melanoma (4), astrocytoma (4), pancreatic gastrinoma (4), gliosarcoma (4), chandler syndrome (4), vaccinia (4), myocardial infarction (3), alzheimer disease (2), ewing sarcoma (2)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 1483.52 RPKM in Brain - Spinal cord (cervical c-1)
Total median expression: 5552.38 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -15.8071-0.223 Picture PostScript Text
3' UTR -254.60759-0.335 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR011992 - EF-hand-like_dom
IPR018247 - EF_Hand_1_Ca_BS
IPR018249 - EF_HAND_2
IPR001751 - S100/CaBP-9k_CS
IPR013787 - S100_Ca-bd_sub

Pfam Domains:
PF00036 - EF hand
PF01023 - S-100/ICaBP type calcium binding domain
PF13202 - EF hand

SCOP Domains:
47473 - EF-hand

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1MQ1 - NMR MuPIT 1UWO - NMR MuPIT 2H61 - X-ray MuPIT 2PRU - NMR MuPIT 3CZT - X-ray MuPIT 3D0Y - X-ray MuPIT 3D10 - X-ray MuPIT 3HCM - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on P04271
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005102 receptor binding
GO:0005509 calcium ion binding
GO:0005515 protein binding
GO:0008270 zinc ion binding
GO:0042802 identical protein binding
GO:0042803 protein homodimerization activity
GO:0044548 S100 protein binding
GO:0046872 metal ion binding
GO:0048156 tau protein binding
GO:0048306 calcium-dependent protein binding
GO:0050786 RAGE receptor binding

Biological Process:
GO:0007409 axonogenesis
GO:0007417 central nervous system development
GO:0007611 learning or memory
GO:0007613 memory
GO:0008283 cell proliferation
GO:0008284 positive regulation of cell proliferation
GO:0008360 regulation of cell shape
GO:0031643 positive regulation of myelination
GO:0043065 positive regulation of apoptotic process
GO:0043123 positive regulation of I-kappaB kinase/NF-kappaB signaling
GO:0045087 innate immune response
GO:0048168 regulation of neuronal synaptic plasticity
GO:0048708 astrocyte differentiation
GO:0050806 positive regulation of synaptic transmission
GO:0051384 response to glucocorticoid
GO:0051597 response to methylmercury
GO:0060291 long-term synaptic potentiation
GO:0071456 cellular response to hypoxia
GO:2001015 negative regulation of skeletal muscle cell differentiation

Cellular Component:
GO:0001726 ruffle
GO:0005576 extracellular region
GO:0005615 extracellular space
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0043025 neuronal cell body
GO:0048471 perinuclear region of cytoplasm


-  Descriptions from all associated GenBank mRNAs
  CS301701 - Sequence 2 from Patent WO2006000719.
CS301702 - Sequence 3 from Patent WO2006000719.
JD144113 - Sequence 125137 from Patent EP1572962.
JD156342 - Sequence 137366 from Patent EP1572962.
JD482303 - Sequence 463327 from Patent EP1572962.
JD316280 - Sequence 297304 from Patent EP1572962.
BC001766 - Homo sapiens S100 calcium binding protein B, mRNA (cDNA clone MGC:1323 IMAGE:3543825), complete cds.
FW339990 - Screening.
JD307532 - Sequence 288556 from Patent EP1572962.
JD444882 - Sequence 425906 from Patent EP1572962.
JD362184 - Sequence 343208 from Patent EP1572962.
DQ892491 - Synthetic construct clone IMAGE:100005121; FLH186785.01X; RZPDo839A0672D S100 calcium binding protein, beta (neural) (S100B) gene, encodes complete protein.
EU176695 - Synthetic construct Homo sapiens clone IMAGE:100011660; FLH264093.01L; RZPDo839G05257D S100 calcium binding protein B (S100B) gene, encodes complete protein.
CR542123 - Homo sapiens full open reading frame cDNA clone RZPDo834C0623D for gene S100B, S100 calcium binding protein, beta (neural); complete cds, incl. stopcodon.
KJ897514 - Synthetic construct Homo sapiens clone ccsbBroadEn_06908 S100B gene, encodes complete protein.
AB464700 - Synthetic construct DNA, clone: pF1KB8857, Homo sapiens S100B gene for S100 calcium binding protein B, without stop codon, in Flexi system.
KU178319 - Homo sapiens S100 calcium binding protein B isoform 1 (S100B) mRNA, partial cds.
KU178320 - Homo sapiens S100 calcium binding protein B isoform 2 (S100B) mRNA, complete cds, alternatively spliced.
BC041935 - Homo sapiens S100 calcium binding protein, beta (neural), mRNA (cDNA clone IMAGE:5300855).

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein P04271 (Reactome details) participates in the following event(s):

R-HSA-879377 The TRTK-12 fragment of F-actin capping protein alpha binds the AGER ligand S100B
R-HSA-879411 Advanced glycosylation end product-specific receptor (AGER/RAGE) is a multiligand receptor
R-HSA-879362 AGER binds ERK1/2
R-NUL-997411 AGER binds rat ERK1/2
R-HSA-1251985 Nuclear signaling by ERBB4
R-HSA-879415 Advanced glycosylation endproduct receptor signaling
R-HSA-1236394 Signaling by ERBB4
R-HSA-168249 Innate Immune System
R-HSA-9006934 Signaling by Receptor Tyrosine Kinases
R-HSA-168256 Immune System
R-HSA-162582 Signal Transduction

-  Other Names for This Gene
  Alternate Gene Symbols: D3DSN6, ENST00000291700.1, ENST00000291700.2, ENST00000291700.3, ENST00000291700.4, ENST00000291700.5, ENST00000291700.6, ENST00000291700.7, ENST00000291700.8, NM_006272, P04271, S100B , S100B_HUMAN, uc317kyu.1, uc317kyu.2
UCSC ID: ENST00000291700.9_7
RefSeq Accession: NM_006272.3
Protein: P04271 (aka S100B_HUMAN or S10B_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.