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Aliases for S100A3 Gene

Aliases for S100A3 Gene

  • S100 Calcium Binding Protein A3 2 3 5
  • S100 Calcium-Binding Protein A3 2 4
  • S100E 3 4
  • Protein S100-A3 3
  • Protein S-100E 4

External Ids for S100A3 Gene

Previous HGNC Symbols for S100A3 Gene

  • S100E

Previous GeneCards Identifiers for S100A3 Gene

  • GC01M151335
  • GC01M149302
  • GC01M150344
  • GC01M150789
  • GC01M9A0063
  • GC01M9A0332
  • GC01M151786
  • GC01M124883

Summaries for S100A3 Gene

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 Epidermoid Cysts and Pilomatrixoma. Gene Ontology (GO) annotations related to this gene include calcium ion binding.

UniProtKB/Swiss-Prot for S100A3 Gene

  • 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

Additional gene information for S100A3 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for S100A3 Gene

Genomics for S100A3 Gene

GeneHancer (GH) Regulatory Elements for S100A3 Gene

Promoters and enhancers for S100A3 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01I153539 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 574 +3.8 3841 12 PKNOX1 ARID4B SIN3A DMAP1 CBX5 FOS DEK SP3 SP5 NFYC S100A3 LOC101928034 S100A4 S100A5 S100A16 S100A14 S100A1 CHTOP S100A13 INTS3
GH01I153531 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 13.8 +14.2 14242 8.2 HDGF PKNOX1 FOXA2 SMAD1 ARID4B SIN3A ZNF48 GLIS2 ARID2 ZNF143 ENSG00000238279 PIR41635 S100A6 S100A3 INTS3 CHTOP UBAP2L ENSG00000272654 RN7SL44P CREB3L4
GH01I153561 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 15.1 -16.2 -16189 8.8 HDGF PKNOX1 ARNT ARID4B NEUROD1 SIN3A DMAP1 ZNF2 YY1 ZNF213 S100A2 S100A6 S100A3 S100A5 ENSG00000238279 S100A16 S100A13 S100A14 SNAPIN S100A1
GH01I153984 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 9.8 -436.8 -436800 3.4 HDGF ARID4B SIN3A ZNF2 POLR2B E2F8 ZNF207 ZNF143 FOS SP3 RAB13 S100A4 ILF2 CHTOP S100A16 CREB3L4 CKS1B S100A3 HAX1 GC01P153977
GH01I153552 Enhancer 1.1 FANTOM5 Ensembl ENCODE dbSUPER 13.9 -4.5 -4496 1.8 ZFHX2 EGR2 S100A3 CHTOP S100A13 S100A16 S100A14 S100A1 INTS3 ENSG00000233222 ENSG00000243613 ILF2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around S100A3 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the S100A3 gene promoter:

Genomic Locations for S100A3 Gene

Genomic Locations for S100A3 Gene
2,044 bases
Minus strand

Genomic View for S100A3 Gene

Genes around S100A3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
S100A3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for S100A3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for S100A3 Gene

Proteins for S100A3 Gene

  • Protein details for S100A3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Protein S100-A3
    Protein Accession:
    Secondary Accessions:
    • D3DV51
    • Q6FGE4

    Protein attributes for S100A3 Gene

    101 amino acids
    Molecular mass:
    11713 Da
    Quaternary structure:
    • Homodimer and homotetramer for the citrullinated form.

    Three dimensional structures from OCA and Proteopedia for S100A3 Gene

neXtProt entry for S100A3 Gene

Post-translational modifications for S100A3 Gene

  • More than half of the arginine residues undergo citrullination by PAD1 and PAD2. Arg-51 is specifically citrullinated by PAD3 and promotes tetramerization.

Other Protein References for S100A3 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Abcam antibodies for S100A3

No data available for DME Specific Peptides for S100A3 Gene

Domains & Families for S100A3 Gene

Gene Families for S100A3 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for S100A3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the S-100 family.
  • Belongs to the S-100 family.
genes like me logo Genes that share domains with S100A3: view

Function for S100A3 Gene

Molecular function for S100A3 Gene

GENATLAS Biochemistry:
S100 calcium binding protein A3,epidermal differentiation complex
UniProtKB/Swiss-Prot Function:
Binds both calcium and zinc. May be involved in calcium-dependent cuticle cell differentiation, hair shaft and hair cuticular barrier formation.

Phenotypes From GWAS Catalog for S100A3 Gene

Gene Ontology (GO) - Molecular Function for S100A3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding IEA --
GO:0008270 zinc ion binding IEA --
GO:0046872 metal ion binding IEA --
GO:0046914 transition metal ion binding IEA --
genes like me logo Genes that share ontologies with S100A3: view
genes like me logo Genes that share phenotypes with S100A3: view

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for S100A3 Gene

Localization for S100A3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for S100A3 Gene


Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for S100A3 gene
Compartment Confidence
nucleus 5
cytosol 5
extracellular 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (4)
  • Nucleoli (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for S100A3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005730 nucleolus IDA --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol IDA --
genes like me logo Genes that share ontologies with S100A3: view

Pathways & Interactions for S100A3 Gene

SuperPathways for S100A3 Gene

No Data Available

Gene Ontology (GO) - Biological Process for S100A3 Gene


No data available for Pathways by source and SIGNOR curated interactions for S100A3 Gene

Drugs & Compounds for S100A3 Gene

(2) Drugs for S100A3 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
calcium Approved Nutra 0
genes like me logo Genes that share compounds with S100A3: view

Transcripts for S100A3 Gene

mRNA/cDNA for S100A3 Gene

Unigene Clusters for S100A3 Gene

S100 calcium binding protein A3:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for S100A3 Gene

No ASD Table

Relevant External Links for S100A3 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for S100A3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for S100A3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for S100A3 Gene

This gene is overexpressed in Skin - Not Sun Exposed (Suprapubic) (x24.8) and Skin - Sun Exposed (Lower leg) (x5.8).

Protein differential expression in normal tissues from HIPED for S100A3 Gene

This gene is overexpressed in Hair follicle (68.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for S100A3 Gene

NURSA nuclear receptor signaling pathways regulating expression of S100A3 Gene:


SOURCE GeneReport for Unigene cluster for S100A3 Gene:


mRNA Expression by UniProt/SwissProt for S100A3 Gene:

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

Evidence on tissue expression from TISSUES for S100A3 Gene

  • Lung(4.2)
genes like me logo Genes that share expression patterns with S100A3: view

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for S100A3 Gene

Orthologs for S100A3 Gene

This gene was present in the common ancestor of mammals.

Orthologs for S100A3 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia S100A3 33 34
  • 99.34 (n)
(Rattus norvegicus)
Mammalia S100a3 33
  • 90.76 (n)
(Mus musculus)
Mammalia S100a3 33 16 34
  • 90.1 (n)
(Canis familiaris)
Mammalia S100A3 33 34
  • 88.78 (n)
(Monodelphis domestica)
Mammalia S100A3 34
  • 79 (a)
(Bos Taurus)
Mammalia S100A3 34
  • 69 (a)
(Ornithorhynchus anatinus)
Mammalia S100A3 34
  • 53 (a)
Species where no ortholog for S100A3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for S100A3 Gene

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

Paralogs for S100A3 Gene

(10) SIMAP similar genes for S100A3 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with S100A3: view

No data available for Paralogs for S100A3 Gene

Variants for S100A3 Gene

Sequence variations from dbSNP and Humsavar for S100A3 Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs193921084 uncertain-significance, Malignant tumor of prostate 153,548,461(-) C/A coding_sequence_variant, missense_variant
rs1001097220 -- 153,548,255(-) C/T intron_variant
rs1001565381 -- 153,546,837(-) C/G downstream_transcript_variant
rs1001827765 -- 153,547,068(-) C/A downstream_transcript_variant
rs1001928447 -- 153,550,981(-) G/A upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for S100A3 Gene

Variant ID Type Subtype PubMed ID
esv3587584 CNV gain 21293372
esv3587591 CNV gain 21293372
nsv1002705 CNV gain 25217958
nsv831603 CNV gain 17160897

Variation tolerance for S100A3 Gene

Residual Variation Intolerance Score: 70.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.43; 63.90% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for S100A3 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for S100A3 Gene

Disorders for S100A3 Gene

MalaCards: The human disease database

(3) MalaCards diseases for S100A3 Gene - From: HGMD, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
epidermoid cysts
  • epidermoid cyst
  • pilomatricoma; ptr
hair follicle neoplasm
  • hair matrix neoplasm
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for S100A3

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with S100A3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for S100A3 Gene

Publications for S100A3 Gene

  1. Specific citrullination causes assembly of a globular S100A3 homotetramer: a putative Ca2+ modulator matures human hair cuticle. (PMID: 18083705) Kizawa K … Heizmann CW (The Journal of biological chemistry 2008) 3 4 22 58
  2. 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. (PMID: 9920417) Fritz G … Kroneck PM (Biochimica et biophysica acta 1998) 3 4 22 58
  3. 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. (PMID: 8341667) Engelkamp D … Heizmann CW (Proceedings of the National Academy of Sciences of the United States of America 1993) 2 3 4 58
  4. Refined crystal structures of human Ca(2+)/Zn(2+)-binding S100A3 protein characterized by two disulfide bridges. (PMID: 21377473) Unno M … Kizawa K (Journal of molecular biology 2011) 3 4 58
  5. Variation in genes of the epidermal differentiation complex in German atopic dermatitis patients. (PMID: 19601998) Stemmler S … Hoffjan S (International journal of immunogenetics 2009) 3 44 58

Products for S100A3 Gene

Sources for S100A3 Gene

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