Gene Report

Basic information

Related studies

Functional annotation

Related other genetic factors

Overlap with SZ and MDD

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Basic Info

Approved Symbol	S100B
Symbol Alias	S100beta
Approved Name	S100 calcium binding protein B
Previous Name	S100 calcium binding protein, beta (neural)
Location	21q22.3
Position	chr21:46598962-46605208, -1
External Links	HGNC: 10500 Entrez Gene: 6285 Ensembl: ENSG00000160307 UCSC: uc002zju.1
No. of Studies	2 (Positive: 1; Negative: 1; trend: 0)
Overlap with SZ?	YES
Overlap with MDD?	YES

Gene related studies (count: 2)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Yosifova, A.,2009	SNP: rs2839350, rs3788266	No SNP of this gene had significant association with BD in our population.	Negative	Comment on Study
Roche, S., 2007	SNP: rs2839350, rs2839351, rs2839355, rs2839359, rs2839363, rs3788266, rs3804040, rs881827, rs9722 Haplotype: rs2839350 - rs2839351(A-C), rs2839351 - rs9722(C-C), rs2839355 - rs2839359(T-T), rs2839359 - rs2839363(T-A), rs2839363 - rs3788266(G-A(BPI)/G-G(BPI&psychosis)), rs3804040 - rs2839350(C-A), rs881827 - rs2839355(C-T(BPI)/T-C(BPI&psychosis)), rs9722 - rs881827(T-C(BPI)/C-C(BPI&psychosis))	The data suggest that variants within S100B predispose to a psychotic subtype of BPAD	Positive	Comment on Study

Gene functional annotation

Gene related GO terms (count: 34)

GO terms by PBA (count: 4)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0005634	nucleus	cellular component	IDA	283
GO:0045087	innate immune response	biological process	TAS	49
GO:0005509	calcium ion binding	molecular function	NAS[9519411]	50
GO:0007417	central nervous system development	biological process	TAS[8202493]	21

GO terms by database search (count: 30)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0044548	S100 protein binding	molecular function	IPI[10913138]	2
GO:0005576	extracellular region	cellular component	TAS	97
GO:0007409	axonogenesis	biological process	TAS[8202493]	11
GO:0043123	positive regulation of I-kappaB kinase/NF-kappaB signaling	biological process	IDA[15033494]	14
GO:0071456	cellular response to hypoxia	biological process	IEA	13
GO:0007611	learning or memory	biological process	ISS	13
GO:0043065	positive regulation of apoptotic process	biological process	IEA	25
GO:0042803	protein homodimerization activity	molecular function	IDA[10913138]; IPI[9519411]	71
GO:0005737	cytoplasm	cellular component	IDA[10913138]; ISS	322
GO:0043231	intracellular membrane-bounded organelle	cellular component	IDA	34
GO:0008284	positive regulation of cell proliferation	biological process	IEA	44
GO:0048471	perinuclear region of cytoplasm	cellular component	IDA[12118070]	50
GO:0005515	protein binding	molecular function	IPI[10913138]	563
GO:0048708	astrocyte differentiation	biological process	IEA	2
GO:0051597	response to methylmercury	biological process	IEA	2
GO:0060291	long-term synaptic potentiation	biological process	IEA	14
GO:0008283	cell proliferation	biological process	TAS[8202493]	37
GO:0005615	extracellular space	cellular component	IEA	85
GO:0042802	identical protein binding	molecular function	IPI[10913138]	44
GO:0007613	memory	biological process	IEA	22
GO:0050786	RAGE receptor binding	molecular function	IPI[15033494]	1
GO:0051384	response to glucocorticoid	biological process	IEA	11
GO:2001015	negative regulation of skeletal muscle cell differentiation	biological process	IEA	1
GO:0048168	regulation of neuronal synaptic plasticity	biological process	IEA	6
GO:0048306	calcium-dependent protein binding	molecular function	IDA[10913138]	7
GO:0043025	neuronal cell body	cellular component	IEA	50
GO:0048156	tau protein binding	molecular function	ISS	3
GO:0001726	ruffle	cellular component	IDA[10913138]	10
GO:0008360	regulation of cell shape	biological process	IEA	16
GO:0008270	zinc ion binding	molecular function	ISS	77

Gene related KEGG pathways (count: 0)

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 19)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
S100B	ANXA6	NO	in vitro	9883272
S100B	S100A6	NO	in vivo;yeast 2-hybrid	9925766 , 10913138
S100B	TP53	NO	in vitro	11527429 , 10876243
S100B	IQGAP1	NO	in vitro;in vivo	12377780
S100B	CACYBP	YES	in vitro;in vivo	12042313
S100B	TNIP1	NO	in vitro;yeast 2-hybrid	9923610
S100B	S100A11	NO	in vivo;yeast 2-hybrid	10913138
S100B	NDRG1	NO	in vitro;in vivo	12493777
S100B	S100A1	NO	in vivo;yeast 2-hybrid	10913138 , 9925766
S100B	GFAP	YES	in vitro	10510252
S100B	CAPZA1	NO	in vitro	12470955
S100B	GUCY2D	NO	in vivo	15556616
S100B	AHNAK	NO	in vitro;in vivo	11312263
S100B	SUGT1	NO	in vitro	12746458
S100B	MAPT	YES	in vitro;in vivo	2833519 , 11264299
S100B	STK38	NO	in vitro	9774336 , 14661952
S100B	DES	NO	in vitro	10510252
S100B	AGER	NO	in vivo	10399917
S100B	PGM1	NO	in vitro	8894274

Related other genetic factors

Gene related SNPs (count: 19)

Literature-origin SNPs (count: 9)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs3804040	chr21:46595409 - 46595409(1)	downstream_gene_variant	1(0/1/0)
rs2839359	chr21:46603466 - 46603466(1)	intron_variant; upstream_gene_variant	1(0/1/0)
rs2839363	chr21:46604833 - 46604833(1)	intron_variant; upstream_gene_variant	1(0/1/0)
rs2839355	chr21:46602120 - 46602120(1)	intron_variant	1(0/1/0)
rs3788266	chr21:46606442 - 46606442(1)	upstream_gene_variant	2(1/1/0)
rs2839351	chr21:46597373 - 46597373(1)	downstream_gene_variant	1(0/1/0)
rs881827	chr21:46599955 - 46599955(1)	intron_variant	1(0/1/0)
rs9722	chr21:46599326 - 46599326(1)	3_prime_UTR_variant	1(0/1/0)
rs2839350	chr21:46597307 - 46597307(1)	downstream_gene_variant	2(1/1/0)

LD-proxies (count: 10)

rs_ID	Location	Functional Annotation
rs2239575	chr21:46600024 - 46600024(1)	intron_variant
rs2839356	chr21:46602231 - 46602231(1)	intron_variant
rs2839357	chr21:46602974 - 46602974(1)	intron_variant; upstream_gene_variant
rs12152107	chr21:46607967 - 46607967(1)	upstream_gene_variant
rs2239574	chr21:46599898 - 46599898(1)	intron_variant
rs34722617	chr21:46602054 - 46602054(1)	intron_variant
rs13047696	chr21:46607264 - 46607264(1)	upstream_gene_variant
rs7282126	chr21:46608083 - 46608083(1)	upstream_gene_variant
rs2839346	chr21:46596835 - 46596835(1)	downstream_gene_variant
rs2839344	chr21:46596778 - 46596778(1)	downstream_gene_variant

Gene related CNVs (count: 0)

Gene related other variants (count: 0)

Gene related regions (count: 3)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
Chr 21	chr21:0-46709983	1 (0/1/0)
21q22	chr21:30200000-46709983	2 (0/0/2)
21q21.3-qter	chr21:25500000-46709983	1 (0/1/0)

Overlap with schizophrenia (SZ) and major depressive disorder (MDD)

Gene relationship with SZ

Overlap with SZ from cross-disorder studies (count: 0)

Overlap with SZ from candidate gene intersection analysis (count: 2)

Reference	ID in SZGene	Result Category
19158809	23	Positive
15670788	23	Positive

Gene relationship with MDD

Overlap with MDD from cross-disorder studies (count: 0)

Overlap with MDD from candidate gene intersection analysis (count: 3)

Reference	Description	Category in MDD	Link in MK4MDD
19497163	Two single nucleotide polymorphisms did not display significant associations with MDD.	Neg	S100B
18939940	There were no significant differences in the genotype distribution and allele frequencies between major depressive patients and healthy individuals	Neg	S100B
17938633	Selected differentially expressed genes in BA44 to BA47 (ANOVA and t-test P < 0.01, fold change 1.3t)	Pos	S100B

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Region: chr21:46598962..46605208 View in gBrowse