S100A2

Summary

S100A2 (S100 calcium binding protein A2, HGNC:10492) is a protein-coding gene on chromosome 1q21.3, encoding Protein S100-A2 (P29034). May function as calcium sensor and modulator, contributing to cellular calcium signaling.

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 may have a tumor suppressor function. Chromosomal rearrangements and altered expression of this gene have been implicated in breast cancer.

Source: NCBI Gene 6273 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 7 total
• Druggable target: yes
• MANE Select transcript: NM_005978

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:10492
Approved symbol	S100A2
Name	S100 calcium binding protein A2
Location	1q21.3
Locus type	gene with protein product
Status	Approved
Aliases	CAN19
Ensembl gene	ENSG00000196754
Ensembl biotype	protein_coding
OMIM	176993
Entrez	6273

Gene structure

Transcript identifiers

Ensembl transcripts: 13 — 13 protein_coding

ENST00000368707, ENST00000368708, ENST00000368709, ENST00000368710, ENST00000487430, ENST00000497140, ENST00000883392, ENST00000930957, ENST00000930958, ENST00000930959, ENST00000930960, ENST00000930961, ENST00000930962

RefSeq mRNA: 3 — MANE Select: NM_005978 NM_001366406, NM_001366407, NM_005978

CCDS: CCDS1044, CCDS91058, CCDS91059

Canonical transcript exons

ENST00000368708 — 3 exons

Exon	Start	End
ENSE00001406387	153563734	153563887
ENSE00001865377	153561108	153561591
ENSE00001891169	153565506	153565844

Expression profiles

Bgee: expression breadth ubiquitous, 215 present calls, max score 99.92.

FANTOM5 (CAGE): breadth broad, TPM avg 101.2970 / max 12123.7362, expressed in 779 samples.

FANTOM5 promoters (9 alternative TSS)

Promoter ID	TPM avg	Samples expressed
14663	88.9760	416
14664	10.6499	369
14667	0.5324	260
14666	0.3708	179
14661	0.2873	66
14665	0.1855	101
14659	0.1223	49
14668	0.1149	47
14660	0.0580	35

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
tongue squamous epithelium	UBERON:0006919	99.92	gold quality
lower esophagus mucosa	UBERON:0035834	99.92	gold quality
gingival epithelium	UBERON:0001949	99.90	gold quality
gingiva	UBERON:0001828	99.89	gold quality
hair follicle	UBERON:0002073	99.88	gold quality
pharyngeal mucosa	UBERON:0000355	99.87	gold quality
cervix squamous epithelium	UBERON:0006922	99.82	gold quality
oral cavity	UBERON:0000167	99.79	gold quality
cervix epithelium	UBERON:0004801	99.66	gold quality
squamous epithelium	UBERON:0006914	99.64	gold quality
periodontal ligament	UBERON:0008266	99.62	gold quality
body of tongue	UBERON:0011876	99.62	gold quality
penis	UBERON:0000989	99.48	gold quality
esophagus squamous epithelium	UBERON:0006920	99.46	gold quality
esophagus mucosa	UBERON:0002469	99.44	gold quality
mammalian vulva	UBERON:0000997	99.30	gold quality
mucosa of urinary bladder	UBERON:0001259	99.22	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	99.21	gold quality
upper arm skin	UBERON:0004263	98.87	gold quality
tongue	UBERON:0001723	98.82	gold quality
nasal cavity mucosa	UBERON:0001826	98.82	gold quality
epithelium of esophagus	UBERON:0001976	98.67	gold quality
nasal cavity epithelium	UBERON:0005384	98.39	gold quality
skin of abdomen	UBERON:0001416	98.36	gold quality
zone of skin	UBERON:0000014	98.23	gold quality
epithelium of nasopharynx	UBERON:0001951	98.14	gold quality
trachea	UBERON:0003126	98.13	gold quality
skin of leg	UBERON:0001511	98.10	gold quality
upper leg skin	UBERON:0004262	97.95	gold quality
nipple	UBERON:0002030	97.82	gold quality

Single-cell (SCXA)

Detected in 18 experiment(s), a significant marker in 17.

Experiment	Marker?	Max mean expression
E-MTAB-8142	yes	30275.51
E-MTAB-10855	yes	22586.27
E-CURD-114	yes	18352.77
E-HCAD-1	yes	13155.39
E-ANND-2	yes	7733.75
E-GEOD-86618	yes	6038.89
E-HCAD-8	yes	5246.30
E-MTAB-6308	yes	4154.80
E-HCAD-15	yes	4029.13
E-CURD-126	yes	3858.33
E-GEOD-130148	yes	2369.46
E-MTAB-8559	yes	1676.64
E-MTAB-10283	yes	1613.94
E-GEOD-139324	yes	1016.64
E-CURD-7	yes	563.60

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): AP1, BRCA1, JUN, JUNB, PPARG, TP53, TP63, TP73

miRNA regulators (miRDB)

15 targeting S100A2, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-9983-3P	99.94	71.48	3631
HSA-MIR-129-5P	99.88	70.26	3273
HSA-MIR-4306	99.72	70.50	3630
HSA-MIR-561-3P	99.64	70.90	3647
HSA-MIR-7150	99.62	66.80	1322
HSA-MIR-889-3P	99.40	69.76	2103
HSA-MIR-185-5P	99.35	68.60	2497
HSA-MIR-4644	99.35	69.12	2514
HSA-MIR-421	98.90	67.04	1883
HSA-MIR-4709-5P	98.51	67.25	1335
HSA-MIR-138-5P	98.43	70.49	1292
HSA-MIR-5585-3P	98.25	67.41	941
HSA-MIR-665	97.60	65.64	1781
HSA-MIR-769-5P	94.45	64.56	603

Literature-anchored findings (GeneRIF, showing 40)

• decrease in S100A2 staining from normal to cancer cases is more pronounced in glandular than in squamous epithelial tissue (PMID:11813862)
• Expression of S100A2 protein in squamous cell carcinoma of the esophagus (PMID:11956617)
• DeltaNp63 transactivated the S100A2 promoter, and significantly more fold changes were seen in DeltaNp63-introduced cells than in p53-introduced cells, suggesting that DeltaNp63 may be a novel stimulator of the S100A2 promoter. (PMID:14519656)
• Strong S100A2 expression was often associated with increasing levels of disorder in preinvasive bronchial lesions in non-small cell lung cancer. (PMID:15467767)
• in oral cancer cells the Ca(2+)- and cell cycle-dependent p53-S100A2 interaction might modulate proliferation (PMID:15941720)
• The five genes, and three of the encoded proteins, were shown differentially expressed between a group of keratoconus patients and a reference group using different techniques (PMID:16015083)
• abnormal transcription of TACSTD2 and S100A2 are thought to be unique molecular markers of the preinvasive stage of lung adenocarcinoma (PMID:16232198)
• S100A2 expression was demonstrated to be the only independent factor for late cervical metastasis. (PMID:16273244)
• Involvement of S100A2 and S100A4 in the progression of lung adenocarcinomas provides a list of targets regulated by S100A2 and S100A4. (PMID:16367903)
• S100A2 gene, whose transcript and protein are induced during keratinocyte differentiation, is a direct transcriptional target of p73beta and DeltaNp63alpha and is required for proper keratinocyte differentiation (PMID:16449968)
• results demonstrate frequent cytosolic overexpression of S100A2 and S100A4 in Barrett’s adenocarcinoma (PMID:17032501)
• Increased S100 A2 expression is associated with non-small cell lung cancer (PMID:17067748)
• Preliminary analysis of the X-ray data indicates that there are two subunits per asymmetric unit. (PMID:17077493)
• S100A2 was down-regulated in lymph node metastasis of squamous cell carcinoma, head and neck neoplasms (SCCHN), suggesting that instead of being a putative tumor suppressor, S100A2 may play a role in the metastasis of SCCHN (PMID:17123307)
• Zn2+ might deactivate S100A2 by inhibiting response to intracellular Ca2+ signals (PMID:17239974)
• STMN1, but not SYK or S100A2, have roles in preventing progression of ER-positive primary breast cancer (PMID:17874182)
• Gene regulation is mediated by a novel transcriptional element in the S100A2 promoter which is bound by TAp63gamma but not by p53. (PMID:18388131)
• Analysis of S100A2 expression revealed that expression in adenocarcinomas and squamous cell carcinomas is significantly different, but not related to any of the found alterations. (PMID:18656279)
• S100A2 and S100A6 interact with another TPR protein Tom70 and regulate the Tom70-ligand interaction in vitro (PMID:18669640)
• Survival after UVA irradiation was greater in human keratinocytes compared to mouse skin with no S100A2 expression, showing a protective role for S100A2. A S100A2-dependent difference was observed in the induction of Cxcl13 transcripts in transgenic mice. (PMID:18773213)
• These findings identify S100A2 as a strong metastasis inducer in vivo. (PMID:19118029)
• S100A2 bound monomeric p53 as well as tetrameric, whereas S100A1 only bound monomeric p53. (PMID:19297317)
• Diminished expression of S100A2, a putative tumor suppressor, is an independent predictive factor of neck node relapse in laryngeal squamous cell carcinoma. (PMID:19344608)
• S100A2 expression is a good predictor of response to pancreatectomy for Pancreatic Cancer and suggests that high S100A2 expression may be a marker of a metastatic phenotype. (PMID:19376121)
• S100A2 and p63 protein both play important roles in the carcinogenesis of esophageal squamous cell carcinoma (ESCC). An investigation into the combined expression of S100A2 and p63 may be helpful in early diagnosis. (PMID:19725154)
• S100A1, S100A2, S100A4, S100A6 and S100B interacted with MDM2 (2-125). (PMID:20591429)
• Although the diffraction data of S100A2 were recorded at a wavelength of 0.90 A, which is usually not assumed to be suitable for calcium/sulfur SAD, the anomalous signal was satisfactory. (PMID:20823519)
• Loss of Reprimo and S100A2 expressions occurs frequently in gastric adenocarcinomas. The expressions of Reprimo and S100A2 may be potential biomarkers for gastric adenocarcinomas detection. (PMID:20949468)
• The coding sequence polymorphism S100A2_185G>A had no regulatory role in S100A2-mediated tumor suppression in oral cancer. (PMID:21029261)
• S100A2 is upregulated in gastric adenocarcinoma and is associated with tumor progression. (PMID:21443102)
• findings highlight an important link between the TGF-beta1-induced MAPK and p53 signalling pathways in the regulation of S100A2 expression and pro-tumorigenic actions (PMID:22747445)
• In conclusion, data from the present study demonstrated that loss of S100A2 expression contributes to gastric cancer development and progression (PMID:23337980)
• Data indicate S100A2 and S100P proteins as novel Ca2+-dependent regulators of the CHIP-proteasome pathway. (PMID:23344957)
• Expression of S100A2 in cholangiocarcinoma cells significantly correlated with the histological grade, lymph node metastasis, clinical stage, and a poor survival rate of the patients. Thus it is a strong tumor marker for the cancer. (PMID:23621473)
• Data indicate that S100A2 expression predicts longer disease-free survival (DFS) and overall survival (OS) in patients treated with adjuvant therapy and should be evaluated as a predictive biomarker. (PMID:23726265)
• S100A2 protumorigenic actions and its involvement in TGF-beta-mediated cancer cell invasion and epithelial-mesenchymal transition. (PMID:23996929)
• loss of S100A2 expression contributes to Ggastric cancer development and progression. (PMID:24318973)
• These data demonstrate the importance of S100A2 downstream of the BRCA1/DeltaNp63 signalling axis in modulating transcriptional responses and enforcing growth control mechanisms through destabilisation of mutant p53. (PMID:24556685)
• The potential of cytoplasmic S100A2 overexpression as a predictor of recurrence risk in oral squamous cell carcinoma patients. (PMID:25591983)
• Our investigation complements the current understanding of laryngeal cancer progression. Furthermore, this study supports the concept that enhanced expression of S100A2 may be a promising strategy in developing novel cancer therapeutic drugs. (PMID:25874882)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	s100s	ENSDARG00000036773
danio_rerio	s100a10a	ENSDARG00000037425
danio_rerio	s100t	ENSDARG00000055589
mus_musculus	S100a2	ENSMUSG00000094018

Paralogs (21): CRNN (ENSG00000143536), S100A8 (ENSG00000143546), S100A7 (ENSG00000143556), S100B (ENSG00000160307), S100A1 (ENSG00000160678), S100A11 (ENSG00000163191), S100A9 (ENSG00000163220), S100A12 (ENSG00000163221), S100P (ENSG00000163993), S100G (ENSG00000169906), S100Z (ENSG00000171643), S100A7A (ENSG00000184330), S100A3 (ENSG00000188015), S100A16 (ENSG00000188643), SNTN (ENSG00000188817), S100A13 (ENSG00000189171), S100A14 (ENSG00000189334), S100A4 (ENSG00000196154), S100A5 (ENSG00000196420), S100A10 (ENSG00000197747), S100A6 (ENSG00000197956)

Protein

Protein identifiers

Protein S100-A2 — P29034 (reviewed: P29034)

Alternative names: CAN19, Protein S-100L, S100 calcium-binding protein A2

All UniProt accessions (3): P29034, Q5RHS7, R4GN49

UniProt curated annotations — full annotation on UniProt →

Function. May function as calcium sensor and modulator, contributing to cellular calcium signaling. May function by interacting with other proteins, such as TPR-containing proteins, and indirectly play a role in many physiological processes. May also play a role in suppressing tumor cell growth.

Subunit / interactions. Homodimer. Interacts with FKBP4. Interacts with PPP5C (via TPR repeats); the interaction is calcium-dependent and modulates PPP5C activity. Interacts with TPPP; this interaction inhibits TPPP dimerization.

Tissue specificity. A subset of epithelial cells including normal human mammary epithelial cells and keratinocytes.

Induction. By growth factors in early G1 phase and probably by cell-cycle regulation in S phase. DNA methylation probably plays a direct negative role in suppressing S100L gene expression in tumor cells.

Miscellaneous. This protein binds two calcium ions.

Similarity. Belongs to the S-100 family.

RefSeq proteins (3): NP_001353335, NP_001353336, NP_005969* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001751	S100/CaBP7/8-like_CS	Conserved_site
IPR002048	EF_hand_dom	Domain
IPR011992	EF-hand-dom_pair	Homologous_superfamily
IPR013787	S100_Ca-bd_sub	Domain
IPR018247	EF_Hand_1_Ca_BS	Binding_site
IPR034325	S-100_dom	Domain

Pfam: PF01023

UniProt features (18 total): binding site 7, helix 5, domain 2, strand 2, chain 1, sequence conflict 1

Structure

Experimental structures (PDB)

2 structures.

PDB	Method	Resolution (Å)
4DUQ	X-RAY DIFFRACTION	1.3
2RGI	X-RAY DIFFRACTION	1.6

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P29034-F1	87.46	0.63

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 (7): 29; 34; 64; 66; 68; 70; 75

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 184 (showing top): AP1_01, BORCZUK_MALIGNANT_MESOTHELIOMA_UP, RODRIGUES_THYROID_CARCINOMA_ANAPLASTIC_UP, YAGI_AML_WITH_INV_16_TRANSLOCATION, JAEGER_METASTASIS_DN, CAGCTG_AP4_Q5, HERNANDEZ_MITOTIC_ARREST_BY_DOCETAXEL_2_UP, WEI_MYCN_TARGETS_WITH_E_BOX, RICKMAN_METASTASIS_DN, RICKMAN_TUMOR_DIFFERENTIATED_WELL_VS_POORLY_DN, KIM_RESPONSE_TO_TSA_AND_DECITABINE_UP, ROZANOV_MMP14_TARGETS_UP, BACH2_01, HUPER_BREAST_BASAL_VS_LUMINAL_UP, TGANTCA_AP1_C

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 (0):

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
metal ion binding	2
protein binding	2
cell migration	1
calcium ion binding	1
binding	1
cation binding	1

Protein interactions and networks

STRING

1836 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
S100A2	TP53	P04637	973
S100A2	HRNR	Q86YZ3	738
S100A2	S100G	P29377	688
S100A2	S100A13	Q99584	680
S100A2	S100A7	P31151	679
S100A2	S100A14	Q9HCY8	604
S100A2	ANXA2	P07355	578
S100A2	TCHHL1	Q5QJ38	572
S100A2	AGER	Q15109	525
S100A2	S100A7A	Q86SG5	520
S100A2	GDF15	P78360	513
S100A2	SERPINA1	P01009	511
S100A2	S100A16	Q96FQ6	506
S100A2	SPRR4	Q96PI1	480
S100A2	LELP1	Q5T871	469

IntAct

114 interactions, top by confidence:

A	B	Type	Score
TP53	TP53	psi-mi:“MI:0915”(physical association)	0.980
S100B	S100A4	psi-mi:“MI:0914”(association)	0.870
S100B	S100A2	psi-mi:“MI:0915”(physical association)	0.850
S100A2	S100B	psi-mi:“MI:0915”(physical association)	0.850
S100A2	S100A2	psi-mi:“MI:0915”(physical association)	0.810
S100A2	S100A2	psi-mi:“MI:0407”(direct interaction)	0.810
S100A2	S100A1	psi-mi:“MI:0915”(physical association)	0.780
S100A1	S100A2	psi-mi:“MI:0915”(physical association)	0.780
EZR	EZR	psi-mi:“MI:0915”(physical association)	0.780
FKBP4	HSP90AA1	psi-mi:“MI:0914”(association)	0.780
FAM9C	SNAP29	psi-mi:“MI:0914”(association)	0.740
S100A2	TP53	psi-mi:“MI:0407”(direct interaction)	0.680
TP53	S100A2	psi-mi:“MI:0407”(direct interaction)	0.680
SINHCAF	TNRC18	psi-mi:“MI:0914”(association)	0.640
S100A2	S100A3	psi-mi:“MI:0915”(physical association)	0.630
S100A2	KPNA2	psi-mi:“MI:0407”(direct interaction)	0.610
S100A2	KPNA2	psi-mi:“MI:0915”(physical association)	0.610

BioGRID (427): S100A2 (Two-hybrid), S100A2 (Two-hybrid), S100B (Two-hybrid), HOPX (Affinity Capture-Western), S100A2 (Affinity Capture-MS), S100A2 (Two-hybrid), S100A2 (Affinity Capture-MS), S100A2 (Affinity Capture-MS), S100A2 (Affinity Capture-MS), S100A2 (Affinity Capture-MS), FOPNL (Reconstituted Complex), S100A2 (Two-hybrid), S100A2 (Affinity Capture-MS), S100A2 (Affinity Capture-MS), S100A2 (Two-hybrid)

ESM2 similar proteins: O77691, O77791, P02638, P02639, P04271, P04354, P04467, P04631, P05937, P05942, P05964, P06702, P06703, P07091, P07171, P10462, P12658, P14069, P23297, P24479, P25815, P26447, P27004, P28318, P29034, P30801, P31151, P35466, P35467, P50114, P56565, P79105, P79880, P80310, P80511, P97352, Q0VCM0, Q14ST5, Q28050, Q2EN75

Diamond homologs: A6NMZ2, B7FF67, P29034, P35467, Q0P561, Q503K9, Q7LZT1, Q8C9X1, A7K6Y9, O77691, O77791, P02632, P02633, P02634, P02638, P02639, P04271, P04631, P05942, P05964, P06702, P06703, P07091, P10462, P14069, P20930, P23297, P24480, P25815, P26447, P27003, P28318, P28783, P29377, P30801, P33763, P33764, P35466, P50114, P50116

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
STUB1	“down-regulates quantity by destabilization”	S100A2	polyubiquitination

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 87 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
Toll Like Receptor TLR6:TLR2 Cascade	5	16.9×	2e-03
Toll Like Receptor 2 (TLR2) Cascade	5	16.6×	2e-03
Toll Like Receptor TLR1:TLR2 Cascade	5	16.1×	2e-03
ESR-mediated signaling	6	14.8×	1e-03
MyD88:MAL(TIRAP) cascade initiated on plasma membrane	5	14.6×	2e-03
Toll Like Receptor 4 (TLR4) Cascade	5	12.6×	3e-03
Toll-like Receptor Cascades	5	11.9×	3e-03
Signaling by Receptor Tyrosine Kinases	7	7.0×	3e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	5
Likely benign	0
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

706 predictions. Top by Δscore:

Variant	Effect	Δscore
1:153561587:TTCTC:T	acceptor_gain	1.0000
1:153561589:CTC:C	acceptor_gain	1.0000
1:153561590:TC:T	acceptor_gain	1.0000
1:153561591:CC:C	acceptor_gain	1.0000
1:153561591:CCT:C	acceptor_loss	1.0000
1:153561592:C:CC	acceptor_gain	1.0000
1:153561593:T:C	acceptor_loss	1.0000
1:153561598:G:C	acceptor_gain	1.0000
1:153561598:G:GC	acceptor_gain	1.0000
1:153563726:CCACT:C	donor_loss	1.0000
1:153563727:CACTC:C	donor_loss	1.0000
1:153563728:ACTCA:A	donor_loss	1.0000
1:153563729:CTCAC:C	donor_loss	1.0000
1:153563730:TCA:T	donor_loss	1.0000
1:153563731:CACCC:C	donor_loss	1.0000
1:153563732:ACC:A	donor_gain	1.0000
1:153563732:ACCC:A	donor_gain	1.0000
1:153563733:C:CG	donor_loss	1.0000
1:153563733:CCC:C	donor_gain	1.0000
1:153563733:CCCC:C	donor_gain	1.0000
1:153561602:C:CT	acceptor_gain	0.9900
1:153561603:A:T	acceptor_gain	0.9900
1:153563447:C:A	donor_gain	0.9900
1:153563725:GCCAC:G	donor_loss	0.9900
1:153563732:AC:A	donor_gain	0.9900
1:153563732:ACCCC:A	donor_gain	0.9900
1:153563733:CC:C	donor_gain	0.9900
1:153563733:CCCCC:C	donor_gain	0.9900
1:153563790:G:C	donor_gain	0.9900
1:153563822:T:C	acceptor_gain	0.9900

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000130986 (1:153566358 A>T), RS1000267225 (1:153566132 G>C), RS1000455946 (1:153562071 C>T), RS1000464467 (1:153564772 T>C), RS1000601230 (1:153564361 G>A,T), RS1000763581 (1:153563043 G>A), RS1000807122 (1:153562439 G>A), RS1000831248 (1:153561705 A>T), RS1001574057 (1:153562508 A>G,T), RS1002742116 (1:153565620 A>C), RS1002805449 (1:153567643 C>A,T), RS1002924624 (1:153561846 C>T), RS1003495204 (1:153565139 A>G), RS1004359996 (1:153566623 C>A), RS1004693395 (1:153565179 G>A,C)

Disease associations

OMIM: gene MIM:176993 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL4296263 (SINGLE PROTEIN)

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

CTD chemical–gene interactions

71 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	decreases expression, increases expression	4
Benzo(a)pyrene	affects methylation, increases expression	4
Estradiol	increases expression, decreases expression, affects cotreatment	4
Fluorouracil	affects expression, decreases expression, increases expression, affects response to substance, affects reaction (+1 more)	4
Valproic Acid	affects expression, increases expression, increases methylation	4
Decitabine	affects expression, affects methylation, increases expression	3
Cyclosporine	decreases expression, increases expression	3
Air Pollutants	decreases expression, increases abundance	2
Progesterone	affects cotreatment, increases expression	2
Tobacco Smoke Pollution	affects expression, increases expression	2
Zinc	decreases reaction, affects cotreatment, increases expression, affects binding	2
Aflatoxin B1	affects expression, increases expression	2
Cadmium Chloride	decreases expression, increases abundance, increases expression	2
aristolochic acid I	increases expression	1
bisphenol F	decreases expression	1
sotorasib	affects cotreatment, increases expression	1
lasiocarpine	increases expression	1
methyleugenol	increases expression	1
propionaldehyde	increases expression	1
bisphenol A	decreases expression	1
glycidyl methacrylate	increases expression	1
lead acetate	increases expression	1
dimethylselenide	increases oxidation, decreases expression, increases expression	1
beta-lapachone	increases expression	1
methylparaben	decreases expression	1
butyraldehyde	increases expression	1
benzo(e)pyrene	increases methylation	1
perfluorodecanoic acid	decreases expression	1
2-amino-3,8-dimethylimidazo(4,5-f)quinoxaline	increases expression	1
pentanal	increases expression	1

ChEMBL screening assays

1 unique, capped per target: 1 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL6079549	Binding	Inhibition of S100A2 (unknown origin) by Alphascreen assay	Covalent Inhibitors of S100A4 Block the Formation of a Pro-Metastasis Non-Muscle Myosin 2A Complex. — J Med Chem

Clinical trials (associated diseases)

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