S100A7A

gene
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Also known as S100A7f

Summary

S100A7A (S100 calcium binding protein A7A, HGNC:21657) is a protein-coding gene on chromosome 1q21.3, encoding Protein S100-A7A (Q86SG5). May be involved in epidermal differentiation and inflammation and might therefore be important for the pathogenesis of psoriasis and other diseases.

Enables identical protein binding activity. Predicted to be involved in endothelial cell migration. Predicted to act upstream of or within inflammatory response. Located in cytosol.

Source: NCBI Gene 338324 — RefSeq curated summary.

At a glance

  • GWAS associations: 2
  • Clinical variants (ClinVar): 32 total
  • MANE Select transcript: NM_176823

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:21657
Approved symbolS100A7A
NameS100 calcium binding protein A7A
Location1q21.3
Locus typegene with protein product
StatusApproved
AliasesS100A7f
Ensembl geneENSG00000184330
Ensembl biotypeprotein_coding
OMIM617427
Entrez338324

Gene structure

Transcript identifiers

Ensembl transcripts: 3 — 3 protein_coding

ENST00000329256, ENST00000368728, ENST00000368729

RefSeq mRNA: 1 — MANE Select: NM_176823 NM_176823

CCDS: CCDS30872

Canonical transcript exons

ENST00000368729 — 3 exons

ExonStartEnd
ENSE00001447855153419145153423222
ENSE00001447857153416520153416563
ENSE00001629944153418066153418223

Expression profiles

Bgee: expression breadth broad, 70 present calls, max score 87.58.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 4.0497 / max 5641.4179, expressed in 70 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter IDTPM avgSamples expressed
53954.049770

Top tissues by expression

202 total, by Bgee expression score (0-100, higher = more expressed):

TissueAnatomy IDExpression scoreQuality
male germ line stem cell (sensu Vertebrata) in testisCL:0000089 ∩ UBERON:000047387.58gold quality
penisUBERON:000098976.22gold quality
spermCL:000001976.04silver quality
gingival epitheliumUBERON:000194975.65gold quality
gingivaUBERON:000182873.08gold quality
buccal mucosa cellCL:000233672.25gold quality
mammalian vulvaUBERON:000099772.01gold quality
body of tongueUBERON:001187666.98gold quality
superior surface of tongueUBERON:000737166.76gold quality
tongueUBERON:000172366.51gold quality
cauda epididymisUBERON:000436060.76gold quality
upper leg skinUBERON:000426259.36silver quality
esophagus squamous epitheliumUBERON:000692057.82silver quality
cardia of stomachUBERON:000116257.69gold quality
trigeminal ganglionUBERON:000167556.17gold quality
ventral tegmental areaUBERON:000269156.17gold quality
tonsilUBERON:000237255.56gold quality
saphenous veinUBERON:000731855.33gold quality
pericardiumUBERON:000240755.23gold quality
layer of synovial tissueUBERON:000761655.17gold quality
thymusUBERON:000237054.92gold quality
dorsal root ganglionUBERON:000004454.89gold quality
nippleUBERON:000203054.88gold quality
epithelium of nasopharynxUBERON:000195154.87gold quality
synovial jointUBERON:000221754.83gold quality
inferior vagus X ganglionUBERON:000536354.83gold quality
pylorusUBERON:000116654.69gold quality
medulla oblongataUBERON:000189654.56gold quality
subthalamic nucleusUBERON:000190654.55gold quality
superior vestibular nucleusUBERON:000722754.50gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

ExperimentMarker?Max mean expression
E-ANND-3yes23.31

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

148 targeting S100A7A, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNAMax scoreAvg scoremiRNA target_count
HSA-MIR-5011-5P100.0083.465820
HSA-MIR-4481100.0066.421669
HSA-MIR-190A-3P100.0080.355520
HSA-MIR-574-5P100.0066.01989
HSA-MIR-6758-5P100.0066.211470
HSA-MIR-6856-5P100.0065.471298
HSA-MIR-1252-5P100.0069.802774
HSA-MIR-3163100.0077.238605
HSA-MIR-4455100.0065.481587
HSA-MIR-318599.9968.121959
HSA-MIR-366299.9973.825684
HSA-MIR-1213699.9872.815713
HSA-MIR-314899.9775.066478
HSA-MIR-128-3P99.9571.172484
HSA-MIR-216A-3P99.9571.192505
HSA-MIR-1-3P99.9372.351914
HSA-MIR-20699.9372.501893
HSA-MIR-515-5P99.9269.822343
HSA-MIR-519E-5P99.9269.622358
HSA-MIR-6508-5P99.9270.672465
HSA-MIR-61399.9171.501710
HSA-MIR-4753-3P99.9071.033786
HSA-MIR-6783-3P99.8967.922059
HSA-MIR-1343-3P99.8966.781815
HSA-MIR-990299.8969.152250
HSA-MIR-3681-3P99.8870.462254
HSA-MIR-7845-5P99.8864.88771
HSA-MIR-449299.8768.253611
HSA-MIR-221-5P99.8665.451052
HSA-MIR-807399.8665.211118

Literature-anchored findings (GeneRIF, showing 6)

  • Molecular cloning and characterization of alternatively spliced S100A15 isoforms from psoriatic skin. (PMID:12923069)
  • The S100A15 protein has been expressed & purified to homogeneity in 2 crystal forms. Crystals of form I are triclinic. Crystals of form II are monoclinic & have a solvent content of 51.8%, corresponding to the presence of 1 monomer in the asymmetric unit. (PMID:16682778)
  • Overexpression of hS100A15 in chronic inflammatory skin diseases and regulation by inflammatory cytokines and calcium suggest that hS100A15 is involved in Th1-associated epithelial responses and epidermal maturation in normal and diseased human skin (PMID:17620096)
  • E. coli modulates S100A15 and IL-8 expression of keratinocytes by recognition through TLR4. (PMID:17625598)
  • study defines RAGE (receptor for advanced glycation end products) as the hS100A7 receptor, whereas hS100A15 functions through a Gi protein-coupled receptor (PMID:18606705)
  • S100A15 retains the ability to coordinate zinc through incorporation of an exogenous ligand resulting in a unique zinc-binding site among S100 proteins. (PMID:22747601)

Cross-species orthologs

3 orthologs

OrganismSymbolGene ID
danio_rerios100sENSDARG00000036773
danio_rerios100a10aENSDARG00000037425
danio_rerios100tENSDARG00000055589

Paralogs (21): CRNN (ENSG00000143536), S100A8 (ENSG00000143546), S100A7 (ENSG00000143556), S100B (ENSG00000160307), S100A1 (ENSG00000160678), S100A11 (ENSG00000163191), S100A9 (ENSG00000163220), S100A12 (ENSG00000163221), S100P (ENSG00000163993), S100G (ENSG00000169906), S100Z (ENSG00000171643), S100A3 (ENSG00000188015), S100A16 (ENSG00000188643), SNTN (ENSG00000188817), S100A13 (ENSG00000189171), S100A14 (ENSG00000189334), S100A4 (ENSG00000196154), S100A5 (ENSG00000196420), S100A2 (ENSG00000196754), S100A10 (ENSG00000197747), S100A6 (ENSG00000197956)

Protein

Protein identifiers

Protein S100-A7AQ86SG5 (reviewed: Q86SG5)

Alternative names: S100 calcium-binding protein A15, S100 calcium-binding protein A7-like 1, S100 calcium-binding protein A7A

All UniProt accessions (1): Q86SG5

UniProt curated annotations — full annotation on UniProt →

Function. May be involved in epidermal differentiation and inflammation and might therefore be important for the pathogenesis of psoriasis and other diseases.

Subcellular location. Cytoplasm.

Tissue specificity. Overexpressed in psoriasis.

Similarity. Belongs to the S-100 family.

RefSeq proteins (1): NP_789793* (*=MANE)

Domains & families (InterPro)

IDNameType
IPR001751S100/CaBP7/8-like_CSConserved_site
IPR002048EF_hand_domDomain
IPR011992EF-hand-dom_pairHomologous_superfamily
IPR013787S100_Ca-bd_subDomain
IPR018247EF_Hand_1_Ca_BSBinding_site
IPR034325S-100_domDomain

Pfam: PF01023

UniProt features (22 total): binding site 11, helix 5, domain 2, sequence variant 2, chain 1, strand 1

Structure

Experimental structures (PDB)

1 structures.

PDBMethodResolution (Å)
4AQIX-RAY DIFFRACTION1.7

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q86SG5-F195.190.95

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Ligand- & substrate-binding residues (11): 69; 74; 87; 91; 18; 28; 38; 63; 65; 66; 67

Function

Pathways and Gene Ontology

Reactome pathways

4 pathways

IDPathway
R-HSA-6799990Metal sequestration by antimicrobial proteins
R-HSA-168249Innate Immune System
R-HSA-168256Immune System
R-HSA-6803157Antimicrobial peptides

MSigDB gene sets: 45 (showing top): REACTOME_INNATE_IMMUNE_SYSTEM, RICKMAN_HEAD_AND_NECK_CANCER_C, chr1q21, GOMF_CALCIUM_DEPENDENT_PROTEIN_BINDING, REACTOME_METAL_SEQUESTRATION_BY_ANTIMICROBIAL_PROTEINS, REACTOME_ANTIMICROBIAL_PEPTIDES, GLI1_TARGET_GENES, MIR206, MIR1_3P, MIR613, MIR765, MIR4524A_3P, MIR4517, MIR3185, MIR6783_3P

GO Biological Process (1): endothelial cell migration (GO:0043542)

GO Molecular Function (6): calcium ion binding (GO:0005509), identical protein binding (GO:0042802), transition metal ion binding (GO:0046914), calcium-dependent protein binding (GO:0048306), protein binding (GO:0005515), metal ion binding (GO:0046872)

GO Cellular Component (2): cytoplasm (GO:0005737), cytosol (GO:0005829)

Reactome top-level categories

Rollup of top-3 pathways:

CategoryPathways
Antimicrobial peptides1
Immune System1
Innate Immune System1

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
metal ion binding2
protein binding2
cellular anatomical structure2
cell migration1
calcium ion binding1
binding1
cation binding1
intracellular anatomical structure1
cytoplasm1

Protein interactions and networks

STRING

468 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
S100A7AS100A14Q9HCY8643
S100A7ACRCT1Q9UGL9621
S100A7ALTAP1Q9BWL3581
S100A7AS100A12P80511581
S100A7AKRT16P08779577
S100A7AS100A10P08206576
S100A7AS100A5P33763575
S100A7AS100ZQ8WXG8573
S100A7AS100A13Q99584546
S100A7AS100A2P29034520
S100A7AKLK9Q9UKQ9520
S100A7AS100A16Q96FQ6519
S100A7AS100A3P33764517
S100A7AS100A1P23297516
S100A7AHRNRQ86YZ3507

IntAct

92 interactions, top by confidence:

ABTypeScore
EIF4E2GIGYF1psi-mi:“MI:0914”(association)0.730
CCNCMED19psi-mi:“MI:0914”(association)0.640
S100A7L2S100A7Apsi-mi:“MI:0915”(physical association)0.630
S100A7AS100A7L2psi-mi:“MI:0915”(physical association)0.630
S100A7ACLVS2psi-mi:“MI:0915”(physical association)0.560
CLVS2S100A7Apsi-mi:“MI:0915”(physical association)0.560
UGT1A10A2ML1psi-mi:“MI:0914”(association)0.530
TBC1D22BA2ML1psi-mi:“MI:0914”(association)0.530
SSBP2CLEC18Apsi-mi:“MI:0914”(association)0.530
NPTNTNPO2psi-mi:“MI:0914”(association)0.530
CDK11AHSP90AA1psi-mi:“MI:0914”(association)0.530
S100A7AMYH9psi-mi:“MI:0407”(direct interaction)0.440
S100A7ASLC8A1psi-mi:“MI:0407”(direct interaction)0.440
RASGEF1CS100A7Apsi-mi:“MI:0915”(physical association)0.400
CEP20S100A7Apsi-mi:“MI:0915”(physical association)0.400
CCNYL1A2ML1psi-mi:“MI:0914”(association)0.350
CDK15A2ML1psi-mi:“MI:0914”(association)0.350
SUSD3IGLL5psi-mi:“MI:0914”(association)0.350
PRKAR1ARBFOX3psi-mi:“MI:0914”(association)0.350
PRKCIPOLRMTpsi-mi:“MI:0914”(association)0.350
HTRA4PSMD12psi-mi:“MI:0914”(association)0.350
HTRA4ATOX1psi-mi:“MI:0914”(association)0.350
KLHL11PIPSLpsi-mi:“MI:0914”(association)0.350
FMNL2A2ML1psi-mi:“MI:0914”(association)0.350

BioGRID (86): S100A7A (Affinity Capture-MS), S100A7A (Affinity Capture-MS), S100A7A (Affinity Capture-MS), S100A7A (Affinity Capture-MS), S100A7A (Affinity Capture-MS), S100A7A (Affinity Capture-MS), S100A7A (Affinity Capture-MS), S100A7A (Affinity Capture-MS), S100A7A (Affinity Capture-MS), S100A7A (Two-hybrid), S100A7L2 (Two-hybrid), S100A7A (Affinity Capture-MS), S100A7A (Affinity Capture-MS), S100A7A (Affinity Capture-MS), S100A7A (Affinity Capture-MS)

ESM2 similar proteins: A5PJN0, A7K6Y8, A7K6Y9, F1SSF9, O73763, O76038, O77791, P05109, P06702, P27005, P28318, P28782, P31725, P33763, P43367, P45961, P50115, P50116, P50117, P63083, P63084, P79105, P80511, Q01449, Q06A97, Q0VFG3, Q14ST5, Q28050, Q3MHP3, Q4R6C5, Q5E9G1, Q5SY68, Q5XJX1, Q63ZJ3, Q6AXZ3, Q6DJ05, Q6R556, Q6S5I3, Q75KU4, Q803V3

Diamond homologs: A7K6Y8, A7K6Y9, O77791, P02632, P02633, P02634, P22793, P24480, P29377, P31151, P31725, P50116, P50117, P79105, P80511, P97816, Q14ST5, Q28050, Q503K9, Q6S5I3, Q865V3, Q86SG5, Q8WXG8, O77691, P05964, P06703, P14069, P28318, P30801, P62818, P62819, Q2EN75, P02638, P02639, P04271, P04631, P05109, P05942, P06702, P07091

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

32 variants total. Per-class counts are floors (≥ shown; pagination cap):

ClassificationCount (floor)
Pathogenic0
Likely pathogenic0
Uncertain significance22
Likely benign6
Benign0

Top pathogenic / likely-pathogenic (0)

SpliceAI

349 predictions. Top by Δscore:

VariantEffectΔscore
1:153418220:CTGTG:Cdonor_loss1.0000
1:153418222:GT:Gdonor_gain1.0000
1:153418222:GTGT:Gdonor_loss1.0000
1:153418223:TG:Tdonor_loss1.0000
1:153418224:G:GGdonor_gain1.0000
1:153418225:TGAG:Tdonor_loss1.0000
1:153419202:GA:Gdonor_gain1.0000
1:153419299:G:GTdonor_gain1.0000
1:153419299:G:Tdonor_gain1.0000
1:153419349:A:AGdonor_gain1.0000
1:153418061:T:Aacceptor_gain0.9900
1:153418190:G:GTdonor_gain0.9900
1:153418194:G:GTdonor_gain0.9900
1:153418219:CCTGT:Cdonor_gain0.9900
1:153418220:CTGT:Cdonor_gain0.9900
1:153418226:G:GCdonor_loss0.9900
1:153418227:AGT:Adonor_loss0.9900
1:153419140:CACA:Cacceptor_loss0.9900
1:153419142:CA:Cacceptor_loss0.9900
1:153419143:A:AGacceptor_gain0.9900
1:153419144:G:GGacceptor_gain0.9900
1:153419144:G:GTacceptor_loss0.9900
1:153419203:A:Gdonor_gain0.9900
1:153419344:G:GTdonor_gain0.9900
1:153419345:A:Tdonor_gain0.9900
1:153419349:A:Gdonor_gain0.9900
1:153416562:TGGTA:Tdonor_loss0.9800
1:153416563:GGTA:Gdonor_loss0.9800
1:153416564:G:GGdonor_gain0.9800
1:153416564:GTA:Gdonor_loss0.9800

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000278785 (1:153415717 G>A,C,T), RS1000353643 (1:153415604 G>T), RS1000583329 (1:153415123 G>A), RS1000694675 (1:153414646 CTCAT>C), RS1000940933 (1:153423200 A>G), RS1001179576 (1:153418503 CCT>C), RS1001277579 (1:153421884 C>T), RS1001309991 (1:153421751 C>A), RS1002447248 (1:153417743 G>T), RS1002952679 (1:153420920 A>G), RS1003016349 (1:153420600 G>C), RS1003276788 (1:153419609 G>A,T), RS1003584041 (1:153415893 A>G), RS1004482270 (1:153416105 C>T), RS1004814475 (1:153415232 G>A)

Disease associations

OMIM: gene MIM:617427 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

2 associations (top):

StudyTraitp-value
GCST008916_87Asthma2.000000e-13
GCST011383_8Mastocytosis8.000000e-07

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

14 total (human), top 14 by PubMed support.

ChemicalActions (top 5)PubMed papers
sodium arseniteaffects expression, increases expression3
Nickelincreases expression2
hydroquinonedecreases expression1
CGP 52608increases reaction, affects binding1
Glyphosateincreases expression1
Arsenicaffects methylation1
Benzo(a)pyreneaffects methylation, increases methylation1
Cadmiumincreases abundance, increases expression1
Sodium Dodecyl Sulfatedecreases expression, increases expression1
Tetrachlorodibenzodioxinincreases expression1
Tobacco Smoke Pollutionincreases expression1
Aflatoxin B1decreases methylation1
Cadmium Chlorideincreases abundance, increases expression1
Particulate Matterincreases expression1

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.

  • Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): mastocytosis