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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

S100A3 Gene

protein-coding GIFtS: 55
GCID: GC01M153519

S100 Calcium Binding Protein A3

(Previous name: S100 calcium-binding protein A3)
(Previous symbol: S100E)

14 related diseases
at

MalaCards

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
About This Section

Aliases
S100 Calcium Binding Protein A3¹ ²
S100E¹ ² ³ ⁵
S100 Calcium-Binding Protein A3¹ ² ³
Protein S100-A3²
Protein S-100E³

External Ids:	HGNC: 10493¹	Entrez Gene: 6274²	Ensembl: ENSG00000188015⁷	OMIM: 176992⁵	UniProtKB: P33764³

Export aliases for S100A3 gene to outside databases

Previous GC identifers: GC01M151335 GC01M149302 GC01M150344 GC01M150789 GC01M9A0063 GC01M9A0332 GC01M151786 GC01M124883

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for S100A3 Gene:

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 cellular processes such as cell cycle progression and differentiation. S100 genes include at

least 13 members which are located as a cluster on chromosome 1q21. This protein has the highest content of cysteines

of all S100 proteins, has a high affinity for Zinc, and is highly expressed in human hair cuticle. The precise

function of this protein is unknown. (provided by RefSeq, Jul 2008)

GeneCards Summary for S100A3 Gene:

S100A3 (S100 calcium binding protein A3) is a protein-coding gene. Diseases associated with S100A3 include pilomatrixoma, and anaplastic astrocytoma. GO annotations related to this gene include calcium ion binding. An important paralog of this gene is S100A11.

UniProtKB/Swiss-Prot: S10A3_HUMAN, P33764

Function: Binds both calcium and zinc. May be involved in calcium-dependent cuticle cell differentiation, hair shaft

and hair cuticular barrier formation

Gene Wiki entry for S100A3 Gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000001.10 NT_004487.19 NC_018912.2

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the S100A3 gene promoter:
AML1a ATF-2 c-Jun
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: S100A3 promoter sequence

Search SABiosciences Chromatin IP Primers for S100A3

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat S100A3

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1q21 Ensembl cytogenetic band: 1q21.3 HGNC cytogenetic band: 1q21

S100A3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
S100A3 gene location

GeneLoc information about chromosome 1 GeneLoc Exon Structure

GeneLoc location for GC01M153519: view genomic region (about GC identifiers)

Start:	153,519,805 bp from pter	End:	153,521,848 bp from pter
Size:	2,044 bases	Orientation:	minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: S10A3_HUMAN, P33764 (See protein sequence)

Recommended Name: Protein S100-A3

Size: 101 amino acids; 11713 Da

Subunit: Homodimer and homotetramer for the citrullinated form

Subcellular location: Cytoplasm

5 PDB 3D structures from and Proteopedia for S100A3:

1KSO (3D)

3NSI (3D)

3NSK (3D)

3NSL (3D)

3NSO (3D)

Secondary accessions: D3DV51 Q6FGE4

Explore the universe of human proteins at neXtProt for S100A3: NX_P33764

Explore proteomics data for S100A3 at MOPED

Post-translational modifications:

UniProtKB: More than half of the arginine residues undergo citrullination by PAD1 and PAD2. Arg-51 is specifically citrullinated

by PAD3 and promotes tetramerization

View neXtProt modification sites for NX_P33764

S100A3 Protein expression data from MOPED¹, PaxDb² and MAXQB³ : About this image

REFSEQ proteins: NP_002951.1

ENSEMBL proteins:

ENSP00000357702 ENSP00000357701

Human Recombinant Protein Products for S100A3:

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Gene Ontology (GO): 1 cellular component term (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005737	cytoplasm	IEA	--

S100A3 for ontologies About GeneDecksing

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

HGNC Gene Families:

S100: S100 calcium binding proteins

3 InterPro protein domains:

IPR011992 EF-hand-like_dom

IPR013787 S100_Ca-bd_sub

IPR001751 S100/CaBP-9k_CS

Graphical View of Domain Structure for InterPro Entry P33764

ProtoNet protein and cluster: P33764

1 Blocks protein domain: IPB001751 Calcium-binding protein

UniProtKB/Swiss-Prot: S10A3_HUMAN, P33764

Similarity: Belongs to the S-100 family

Similarity: Contains 2 EF-hand domains

S100A3 for domains About GeneDecksing

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: S10A3_HUMAN, P33764

Function: Binds both calcium and zinc. May be involved in calcium-dependent cuticle cell differentiation, hair shaft

and hair cuticular barrier formation

Genatlas biochemistry entry for S100A3:

S100 calcium binding protein A3,epidermal differentiation complex

Gene Ontology (GO): 1 molecular function term (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005509	calcium ion binding	IEA	--

S100A3 for ontologies About GeneDecksing

Animal Models:

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		hsa-miR-488
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In Situ Assay
Products:

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(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
About This Section

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for S100A3

STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

5 Interacting proteins for S100A3 (P33764³ ENSP00000357701⁴) via UniProtKB, MINT, STRING, and/or I2D

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
DLG3	Q92796³, ENSP00000363480⁴	I2D: score=2 STRING: ENSP00000363480
HPCAL4	Q9UM19³	I2D: score=1
S100P	ENSP00000296370⁴	STRING: ENSP00000296370
S100A1	ENSP00000292169⁴	STRING: ENSP00000292169
ABCG2	ENSP00000237612⁴	STRING: ENSP00000237612

About this table

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, IUPHAR, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

S100A3 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for S100A3 (S10A3)

1 HMDB Compound for S100A3 About this table

Compound	Synonyms	CAS #	PubMed Ids
Calcium	Ca (see all 2)	7440-70-2	--

2 Novoseek inferred chemical compound relationships for S100A3 gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
calcium	33.5	12	18083705 (4), 9804353 (2), 10082754 (2), 8672544 (2) (see all 5)
zinc	11.8	4	9920417 (3), 7673133 (1)

Search CenterWatch for drugs/clinical trials and news about S100A3 / S10A3

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
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Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for S100A3 gene:

NM_002960.1

Unigene Cluster for S100A3:

S100 calcium binding protein A3

Hs.557609 [show with all ESTs]

Unigene Representative Sequence: FY211449

2 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000368713(uc001fca.1) ENST00000368712

miRNA Products:
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		hsa-miR-488
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Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
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Additional mRNA sequence:

BC012893.1 BT006955.1 CR542163.1 CR542185.1 Z18948.1

4 DOTS entries:

DT.212995 DT.95246174 DT.87017506 DT.95363221

24/388 AceView cDNA sequences (see all 388):

BU175597 BU608609 BE877461 BM741613 AA330444 F27477 AA296087 NM_002961

AJ712737 BE468052 BU626248 W94732 CB109571 AA872450 BU846394 BM760112

CR542185 BM699836 BM760188 BC016300 AI168075 BM754955 AA057375 BM755230

GeneLoc Exon Structure

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

S100A3 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: TCTCCCACAC

About this image

See S100A3 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for S100A3

SOURCE GeneReport for Unigene cluster: Hs.557609

UniProtKB/Swiss-Prot: S10A3_HUMAN, P33764

Tissue specificity: Skin specific, specifically expressed at the inner endocuticle of hair fibers

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In Situ
Assay Products:

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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of chordates.

Orthologs for S100A3 gene from 2/8 species (see all 8) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	S100a3^{1 , 5}	S100 calcium binding protein A3^{1, 5}	90.1(n)¹ 90.1(a)¹		3 (39.26 cM)⁵ 20197¹ NM_011310.2¹ NP_035440.1¹ 90600215⁵
zebrafish (Danio rerio)	Actinopterygii	icn⁶ icn2⁶	ictacalcin 2	35(a) 32(a)	many ↔ many many ↔ many	16(25670482-25671845) 16(25726344-25730386)

ENSEMBL Gene Tree for S100A3 (if available)
TreeFam Gene Tree for S100A3 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for S100A3 gene

S100A11² S100A6² S100A1² S100A12² S100B² S100A4² S100A10² S100Z²

S100P² S100A2² S100A5² S100A9²

10 SIMAP similar genes for S100A3 using alignment to 1 protein entry: S10A3_HUMAN:

S100A4 S100B S100A2 S100A6 S100A5 S100A1

S100A11 S100Z S100P S100A10

S100A3 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, ⁴UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 1 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs148342748^1,2	C,F	--	153520297(+)	`ATTTGT/CTGTAG`	2	/N /S	mis¹		1		NA	4552
rs2071631^1,2	C,H	--	153520317(-)	`ACTGAG/ATTTCG`	2	/E	syn¹ ese³		6		NS EA NA	422
rs79576027^1,2	C	--	153520321(+)	`ACTCAG/CTCTGT`	2	/T /S	mis¹		1		WA	118
rs199863069^1,2	C	--	153520352(+)	`GGTAAG/AGGAGT`	1	--	int¹		1		EU	1319
rs56089062^1,2	C,F	--	153520400(+)	`CCTCCT/CTCCTC`	1	--	int¹		6		WA CSA NA	246
rs76857436^1,2	C,F	--	153520408(+)	`CTCTCC/TCAAGT`	1	--	int¹		2		CSA WA	122
rs149215700^1,2	C	--	153520418(+)	`TGGACC/TCACCC`	1	--	int¹		0	--	--	--	--
rs75928171^1,2	C,F	--	153520451(+)	`AGGGCC/TGACTT`	1	--	int¹		1		WA	118
rs78031781^1,2	C,F	--	153520513(+)	`CCTCTC/TAGATT`	1	--	int¹		1		NA	120
rs117791106^1,2	F	--	153520514(+)	`CTCTCA/GGATTA`	1	--	int¹		1		EA	120

HapMap Linkage Disequilibrium report for S100A3 (153519805 - 153521848 bp)

Structural Variations
Database of Genomic Variants (DGV) 1 variation for S100A3: About this table

Variant ID	Type	Subtype	PubMed ID
nsv831603	CNV	Gain	17160897

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing S100A3

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

S100A3 for disorders           About GeneDecksing

OMIM gene information: 176992    OMIM disorders: --

14 diseases for S100A3:    About MalaCards

pilomatrixoma anaplastic astrocytoma craniopharyngioma pilocytic astrocytoma

astrocytoma esophageal squamous cell carcinoma cholesteatoma atopic dermatitis

glioblastoma dermatitis esophagitis squamous cell carcinoma

gastric cancer pancreatitis

1 disease from the University of Copenhagen DISEASES database for S100A3:

Pilomatrixoma

3 Novoseek inferred disease relationships for S100A3 gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
anaplastic astrocytoma	54.1	1	9989446 (1)
glioblastoma	35	1	9989446 (1)
tumors	0	2	9989446 (1), 18793447 (1)

Genetic Association Database (GAD): S100A3
Human Genome Epidemiology (HuGE) Navigator: S100A3 (2 documents)

Export disorders for S100A3 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for S100A3 gene, integrated from 9 sources (see all 34):
(articles sorted by number of sources associating them with S100A3)

Utopia: connect your pdf to the dynamic
world of online information

Six S100 genes are clustered on human chromosome 1q21: identification of two genes coding for the two previously unreported calcium-binding proteins S100D and S100E. (PubMed id 8341667)^{1, 2, 3} Engelkamp D.... Heizmann C.W. (1993)
Specific citrullination causes assembly of a globular S100A3 homotetramer: a putative Ca2+ modulator matures human hair cuticle. (PubMed id 18083705)^{1, 2, 9} Kizawa K....Heizmann C.W. (2008)
Probing the structure of the human Ca2+- and Zn2+-binding protein S100A3: spectroscopic investigations of its transition metal ion complexes, and three-dimensional structural model. (PubMed id 9920417)^{1, 2, 9} Fritz G.... Kroneck P.M.H. (1998)
Refined crystal structures of human Ca(2+)/Zn(2+)-bin ding S100A3 protein characterized by two disulfide bridges. (PubMed id 21377473)^{1, 2} Unno M....Kizawa K. (2011)
Variation in genes of the epidermal differentiation c omplex in German atopic dermatitis patients. (PubMed id 19601998)^{1, 4} Stemmler S....Hoffjan S. (2009)
The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)^{1, 2} Gregory S.G.... Bentley D.R. (2006)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
Characterization of the cysteine-rich calcium-binding S100A3 protein from human hair cuticles. (PubMed id 12470658)^{1, 2} Kizawa K....Heizmann C.W. (2002)
Metal-free MIRAS phasing: structure of apo-S100A3. (PubMed id 12136135)^{1, 2} Mittl P.R....Grutter M.G. (2002)
Highly-expressed S100A3, a calcium-binding protein, in human hair cuticle. (PubMed id 8672544)^{1, 9} Kizawa K....Murakami U. (1996)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 6274	HGNC: 10493	AceView: S100A3andS100A4	Ensembl:ENSG00000188015	euGenes: HUgn6274
ECgene: S100A3	H-InvDB: S100A3

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for S100A3	Pharmacogenomics, SNPs, Pathways

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S100 Calcium Binding Protein A3

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