S100A16
gene geneOn this page
Also known as S100FDT1P1A7MGC17528
Summary
S100A16 (S100 calcium binding protein A16, HGNC:20441) is a protein-coding gene on chromosome 1q21.3, encoding Protein S100-A16 (Q96FQ6). Calcium-binding protein.
Enables calcium ion binding activity and protein homodimerization activity. Predicted to act upstream of or within response to calcium ion. Located in several cellular components, including cytosol; extracellular space; and nucleolus.
Source: NCBI Gene 140576 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 17 total
- MANE Select transcript:
NM_080388
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:20441 |
| Approved symbol | S100A16 |
| Name | S100 calcium binding protein A16 |
| Location | 1q21.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | S100F, DT1P1A7, MGC17528 |
| Ensembl gene | ENSG00000188643 |
| Ensembl biotype | protein_coding |
| OMIM | 617437 |
| Entrez | 140576 |
Gene structure
Transcript identifiers
Ensembl transcripts: 28 — 27 protein_coding, 1 protein_coding_CDS_not_defined
ENST00000368703, ENST00000368704, ENST00000368705, ENST00000368706, ENST00000474991, ENST00000852960, ENST00000852961, ENST00000852962, ENST00000852963, ENST00000852964, ENST00000852965, ENST00000852966, ENST00000852967, ENST00000852968, ENST00000852969, ENST00000852970, ENST00000852971, ENST00000852972, ENST00000852973, ENST00000852974, ENST00000852975, ENST00000852976, ENST00000913004, ENST00000913005, ENST00000913006, ENST00000970156, ENST00000970157, ENST00000970158
RefSeq mRNA: 3 — MANE Select: NM_080388
NM_001317007, NM_001317008, NM_080388
CCDS: CCDS1045
Canonical transcript exons
ENST00000368706 — 3 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001447809 | 153606886 | 153607692 |
| ENSE00001951512 | 153612952 | 153613137 |
| ENSE00003645863 | 153607999 | 153608177 |
Expression profiles
Bgee: expression breadth ubiquitous, 253 present calls, max score 99.91.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 107.5889 / max 933.4106, expressed in 1451 samples.
FANTOM5 promoters (14 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 14681 | 45.2564 | 1276 |
| 14683 | 21.5148 | 1222 |
| 14674 | 11.2892 | 1044 |
| 14675 | 10.7711 | 1111 |
| 14676 | 6.7975 | 1075 |
| 14682 | 4.1698 | 1054 |
| 14684 | 3.1045 | 675 |
| 14673 | 1.0244 | 410 |
| 14679 | 0.9874 | 521 |
| 14671 | 0.7586 | 492 |
Top tissues by expression
256 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| lower esophagus mucosa | UBERON:0035834 | 99.91 | gold quality |
| pharyngeal mucosa | UBERON:0000355 | 99.78 | gold quality |
| esophagus mucosa | UBERON:0002469 | 99.73 | gold quality |
| ileal mucosa | UBERON:0000331 | 99.72 | gold quality |
| upper arm skin | UBERON:0004263 | 99.68 | gold quality |
| gingival epithelium | UBERON:0001949 | 99.66 | gold quality |
| gingiva | UBERON:0001828 | 99.65 | gold quality |
| oral cavity | UBERON:0000167 | 99.58 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 99.57 | gold quality |
| nasal cavity epithelium | UBERON:0005384 | 99.45 | gold quality |
| mammalian vulva | UBERON:0000997 | 99.39 | gold quality |
| penis | UBERON:0000989 | 99.32 | gold quality |
| skin of abdomen | UBERON:0001416 | 99.31 | gold quality |
| body of tongue | UBERON:0011876 | 99.27 | gold quality |
| skin of leg | UBERON:0001511 | 99.21 | gold quality |
| zone of skin | UBERON:0000014 | 99.17 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 99.10 | gold quality |
| nipple | UBERON:0002030 | 98.95 | gold quality |
| vagina | UBERON:0000996 | 98.83 | gold quality |
| mouth mucosa | UBERON:0003729 | 98.63 | gold quality |
| upper leg skin | UBERON:0004262 | 98.63 | gold quality |
| tongue | UBERON:0001723 | 98.59 | gold quality |
| minor salivary gland | UBERON:0001830 | 98.47 | gold quality |
| pancreatic ductal cell | CL:0002079 | 98.25 | gold quality |
| buccal mucosa cell | CL:0002336 | 98.12 | gold quality |
| stromal cell of endometrium | CL:0002255 | 98.11 | gold quality |
| cardiac muscle of right atrium | UBERON:0003379 | 98.06 | gold quality |
| kidney epithelium | UBERON:0004819 | 98.06 | gold quality |
| colonic mucosa | UBERON:0000317 | 98.05 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 98.05 | gold quality |
Single-cell (SCXA)
Detected in 34 experiment(s), a significant marker in 30.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-HCAD-1 | yes | 3649.09 |
| E-CURD-98 | yes | 1358.24 |
| E-MTAB-7407 | yes | 1085.54 |
| E-MTAB-8271 | yes | 1070.29 |
| E-CURD-112 | yes | 883.10 |
| E-MTAB-8530 | yes | 869.37 |
| E-MTAB-9435 | yes | 611.34 |
| E-ANND-5 | yes | 592.96 |
| E-CURD-6 | yes | 551.97 |
| E-MTAB-9801 | yes | 540.59 |
| E-GEOD-76312 | yes | 476.94 |
| E-GEOD-109979 | yes | 321.75 |
| E-MTAB-8142 | yes | 136.82 |
| E-MTAB-6701 | yes | 128.13 |
| E-MTAB-10553 | yes | 57.28 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
36 targeting S100A16, 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-6127 | 100.00 | 66.76 | 2188 |
| HSA-MIR-4510 | 100.00 | 66.60 | 2050 |
| HSA-MIR-6129 | 100.00 | 66.46 | 2080 |
| HSA-MIR-6130 | 100.00 | 66.69 | 2012 |
| HSA-MIR-6133 | 100.00 | 66.48 | 2064 |
| HSA-MIR-4747-5P | 100.00 | 67.90 | 2681 |
| HSA-MIR-5196-5P | 100.00 | 67.98 | 2761 |
| HSA-MIR-4481 | 100.00 | 66.42 | 1669 |
| HSA-MIR-4745-5P | 99.98 | 65.95 | 1028 |
| HSA-MIR-6721-5P | 99.93 | 68.92 | 2981 |
| HSA-MIR-6756-5P | 99.82 | 67.97 | 2466 |
| HSA-MIR-498-5P | 99.76 | 69.64 | 1807 |
| HSA-MIR-4499 | 99.62 | 67.29 | 1470 |
| HSA-MIR-1249-5P | 99.61 | 66.55 | 2049 |
| HSA-MIR-6797-5P | 99.61 | 66.55 | 2084 |
| HSA-MIR-4516 | 99.61 | 67.78 | 3390 |
| HSA-MIR-4310 | 99.59 | 68.84 | 2527 |
| HSA-MIR-6083 | 99.47 | 68.73 | 2393 |
| HSA-MIR-519D-5P | 99.41 | 69.30 | 2057 |
| HSA-MIR-1912-3P | 99.32 | 67.40 | 936 |
| HSA-MIR-329-5P | 99.27 | 68.11 | 1597 |
| HSA-MIR-4434 | 99.10 | 67.01 | 1984 |
| HSA-MIR-5703 | 99.10 | 67.09 | 2053 |
| HSA-MIR-661 | 99.09 | 65.94 | 2062 |
| HSA-MIR-1295B-5P | 99.03 | 67.50 | 810 |
| HSA-MIR-6760-5P | 98.87 | 66.73 | 1515 |
| HSA-MIR-423-5P | 98.69 | 67.48 | 1522 |
| HSA-MIR-3184-5P | 98.56 | 67.13 | 1491 |
| HSA-MIR-6878-5P | 98.49 | 67.91 | 2142 |
| HSA-MIR-6847-5P | 97.93 | 66.74 | 1808 |
Literature-anchored findings (GeneRIF, showing 24)
- The presence of hydrophobic interactions stronger than for other S100 proteins, present in the closed form of S100A16 between the third and fourth helices, likely make the closed structure of the second EF-hand particularly stable. (PMID:21046186)
- S100A16 had a potential function to regulate some embryonic transcription factors to promote epithelial-mensenchymal transition in breast cancer cells which may be an important target site for the therapy of breast cancer. (PMID:25287362)
- Co-expression of S100A14 and S100A16 correlates with a poor prognosis in human breast cancer and promotes cancer cell invasion (PMID:25884418)
- These results indicate that S100 calcium binding protein A16 is a differentiation promoting protein and might function as a tumor suppressor in oral squamous cell carcinoma. (PMID:26353754)
- Data show that overexpression of S100 calcium binding protein A16 protein (S100A16) activated AKT protein and ERK signaling pathways. (PMID:27240591)
- Low S100A16 expression is associated with colorectal cancer. (PMID:28876468)
- Our results suggest that the subcellular localization of S100A16 and S100A16 mRNA expression levels is a promising prognostic marker for lung adenocarcinoma. (PMID:29320753)
- MANF showed not only transient but also long-lasting neuroprotective pro (PMID:30183374)
- Inhibition assays suggested these two signalling pathways participated in the S100A16-mediated proliferation and survival effects in B-cell ALL cell lines. (PMID:30916375)
- S100A16 might promote lipid synthesis in HepG2 cells through endoplasmic reticulum stress HSPA5/IRE1alpha-XBP1 pathway. (PMID:31008487)
- S100A16 could promote the proliferation, migration, and tumor angiogenesis of HeLa cells by regulating the phosphatidylinositol 3 kinase/protein kinase B signaling pathways. (PMID:31894756)
- Interaction of calcium binding protein S100A16 with myosin-9 promotes cytoskeleton reorganization in renal tubulointerstitial fibrosis. (PMID:32094322)
- S100A16 suppresses the proliferation, migration and invasion of colorectal cancer cells in part via the JNK/p38 MAPK pathway. (PMID:33355370)
- S100A16 induces epithelial-mesenchymal transition in human PDAC cells and is a new therapeutic target for pancreatic cancer treatment that synergizes with gemcitabine. (PMID:33359364)
- S100A16 promotes metastasis and progression of pancreatic cancer through FGF19-mediated AKT and ERK1/2 pathways. (PMID:33389337)
- The interaction of S100A16 and GRP78 actives endoplasmic reticulum stress-mediated through the IRE1alpha/XBP1 pathway in renal tubulointerstitial fibrosis. (PMID:34645789)
- Downregulated Calcium-Binding Protein S100A16 and HSP27 in Placenta-Derived Multipotent Cells Induce Functional Astrocyte Differentiation. (PMID:35061207)
- Calbindin S100A16 Promotes Renal Cell Carcinoma Progression and Angiogenesis via the VEGF/VEGFR2 Signaling Pathway. (PMID:36176934)
- New progress with calcium-binding protein S100A16 in digestive system disease. (PMID:36718596)
- S100 Calcium Binding Protein A16 Promotes Cell Proliferation by triggering LATS1 ubiquitin degradation mediated by CUL4A ligase to inhibit Hippo pathway in Glioma development. (PMID:37151881)
- An Update on S100A16 in Human Cancer. (PMID:37509106)
- S100A16 is a potential target for reshaping the tumor microenvironment in the hypoxic context of liver cancer. (PMID:38733818)
- Resistance to gemcitabine is mediated by the circ_0036627/miR-145/S100A16 axis in pancreatic cancer. (PMID:38924205)
- S100A16 stabilizes the ITGA3-mediated ECM-receptor interaction pathway to drive the malignant properties of lung adenocarcinoma cells via binding MOV10. (PMID:39450567)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | icn | ENSDARG00000009978 |
| danio_rerio | icn2 | ENSDARG00000055514 |
| mus_musculus | S100a16 | ENSMUSG00000074457 |
| rattus_norvegicus | S100a16 | ENSRNOG00000012053 |
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), SNTN (ENSG00000188817), S100A13 (ENSG00000189171), S100A14 (ENSG00000189334), S100A4 (ENSG00000196154), S100A5 (ENSG00000196420), S100A2 (ENSG00000196754), S100A10 (ENSG00000197747), S100A6 (ENSG00000197956)
Protein
Protein identifiers
Protein S100-A16 — Q96FQ6 (reviewed: Q96FQ6)
Alternative names: Aging-associated gene 13 protein, Protein S100-F, S100 calcium-binding protein A16
All UniProt accessions (1): Q96FQ6
UniProt curated annotations — full annotation on UniProt →
Function. Calcium-binding protein. Binds one calcium ion per monomer. Can promote differentiation of adipocytes (in vitro). Overexpression in preadipocytes increases their proliferation, enhances adipogenesis and reduces insulin-stimulated glucose uptake.
Subunit / interactions. Homodimer. Interacts with TP53.
Subcellular location. Nucleus. Nucleolus. Cytoplasm.
Tissue specificity. Ubiquitous. Highly expressed in esophagus, adipose tissues and colon. Expressed at lower level in lung, brain, pancreas and skeletal muscle. Expression is up-regulated in tumors of bladder, lung, thyroid gland, pancreas and ovary. Expressed in astrocytes.
Domain organisation. S100A16 proteins, but not other S100 proteins, have only one functional Ca(2+) binding site per monomer. Upon Ca(2+) binding, undergoes conformational changes leading to the exposure of hydrophobic patches which could be implicated in the Ca(2+) -dependent nuclear export. Binds Zn(2+). Ca(2+) and Zn(2+) do not bind to the same site. Does not bind Cu(2+).
Similarity. Belongs to the S-100 family.
RefSeq proteins (3): NP_001303936, NP_001303937, NP_525127* (*=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 |
Pfam: PF01023
UniProt features (18 total): helix 7, binding site 5, domain 2, turn 2, chain 1, strand 1
Structure
Experimental structures (PDB)
3 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 3NXA | X-RAY DIFFRACTION | 2.1 |
| 2L50 | SOLUTION NMR | |
| 2L51 | SOLUTION NMR |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q96FQ6-F1 | 81.56 | 0.20 |
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 (5): 67; 69; 71; 73; 78
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 139 (showing top):
GRAESSMANN_APOPTOSIS_BY_SERUM_DEPRIVATION_DN, GGGTGGRR_PAX4_03, GOBP_RESPONSE_TO_METAL_ION, RICKMAN_METASTASIS_DN, P300_01, GOBP_RESPONSE_TO_CALCIUM_ION, LEIN_OLIGODENDROCYTE_MARKERS, chr1q21, GOCC_NUCLEOLUS, GOMF_PROTEIN_DIMERIZATION_ACTIVITY, GOMF_PROTEIN_HOMODIMERIZATION_ACTIVITY, GOMF_CALCIUM_DEPENDENT_PROTEIN_BINDING, EVI1_02, AP2ALPHA_01, HNF4ALPHA_Q6
GO Biological Process (1): response to calcium ion (GO:0051592)
GO Molecular Function (7): RNA binding (GO:0003723), calcium ion binding (GO:0005509), protein homodimerization activity (GO:0042803), calcium-dependent protein binding (GO:0048306), protein binding (GO:0005515), identical protein binding (GO:0042802), metal ion binding (GO:0046872)
GO Cellular Component (8): obsolete extracellular space (GO:0005615), nucleus (GO:0005634), nucleolus (GO:0005730), cytosol (GO:0005829), plasma membrane (GO:0005886), perinuclear region of cytoplasm (GO:0048471), extracellular exosome (GO:0070062), cytoplasm (GO:0005737)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| protein binding | 2 |
| cytoplasm | 2 |
| response to metal ion | 1 |
| nucleic acid binding | 1 |
| metal ion binding | 1 |
| identical protein binding | 1 |
| protein dimerization activity | 1 |
| calcium ion binding | 1 |
| binding | 1 |
| cation binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| nuclear lumen | 1 |
| intracellular membraneless organelle | 1 |
| membrane | 1 |
| cell periphery | 1 |
| extracellular vesicle | 1 |
| intracellular anatomical structure | 1 |
Protein interactions and networks
STRING
1895 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| S100A16 | S100A14 | Q9HCY8 | 802 |
| S100A16 | S100A3 | P33764 | 785 |
| S100A16 | S100A5 | P33763 | 762 |
| S100A16 | S100A6 | P06703 | 668 |
| S100A16 | S100A7 | P31151 | 654 |
| S100A16 | S100A11 | P31949 | 615 |
| S100A16 | S100A10 | P08206 | 594 |
| S100A16 | S100G | P29377 | 588 |
| S100A16 | S100A7A | Q86SG5 | 519 |
| S100A16 | S100A12 | P80511 | 508 |
| S100A16 | S100A2 | P29034 | 506 |
| S100A16 | S100A7L2 | Q5SY68 | 448 |
| S100A16 | S100A4 | P26447 | 442 |
| S100A16 | HSPA5 | P11021 | 436 |
| S100A16 | ANXA2 | P07355 | 430 |
| S100A16 | A0A087WTN9 | A0A087WTN9 | 430 |
IntAct
48 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| S100A14 | S100A16 | psi-mi:“MI:0915”(physical association) | 0.780 |
| S100A16 | S100A14 | psi-mi:“MI:0915”(physical association) | 0.780 |
| TBC1D22B | A2ML1 | psi-mi:“MI:0914”(association) | 0.530 |
| GMCL1 | A2ML1 | psi-mi:“MI:0914”(association) | 0.530 |
| ZIC1 | CTSV | psi-mi:“MI:0914”(association) | 0.530 |
| DPPA4 | ALOX12B | psi-mi:“MI:0914”(association) | 0.530 |
| ERBB2 | NDUFA4 | psi-mi:“MI:0914”(association) | 0.530 |
| NRAS | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.480 |
| S100A16 | TP53 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| ESYT2 | psi-mi:“MI:0914”(association) | 0.350 | |
| E5 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| ZIC1 | IMPA2 | psi-mi:“MI:0914”(association) | 0.350 |
| UBAC2 | HAL | psi-mi:“MI:0914”(association) | 0.350 |
| ENG | IGKV2-28 | psi-mi:“MI:0914”(association) | 0.350 |
| HTRA4 | PSMD12 | psi-mi:“MI:0914”(association) | 0.350 |
| GABARAPL1 | psi-mi:“MI:0914”(association) | 0.350 | |
| MAPT | SHTN1 | psi-mi:“MI:0914”(association) | 0.350 |
| SRRT | A2ML1 | psi-mi:“MI:0914”(association) | 0.350 |
| PI4KAP1 | A2ML1 | psi-mi:“MI:0914”(association) | 0.350 |
| ST6GALNAC6 | A2ML1 | psi-mi:“MI:0914”(association) | 0.350 |
| RIPPLY3 | A2ML1 | psi-mi:“MI:0914”(association) | 0.350 |
| PRXL2A | A2ML1 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (83): S100A16 (Two-hybrid), S100A16 (Affinity Capture-RNA), S100A16 (Affinity Capture-RNA), S100A16 (Affinity Capture-MS), S100A16 (Two-hybrid), S100A16 (Affinity Capture-MS), S100A16 (Affinity Capture-MS), S100A16 (Affinity Capture-MS), S100A16 (Affinity Capture-MS), S100A16 (Two-hybrid), S100A16 (Biochemical Activity), S100A16 (Affinity Capture-MS), S100A16 (Affinity Capture-MS), S100A14 (Two-hybrid), S100A16 (Affinity Capture-MS)
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: 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, P29034, P29377, P30801, P33763, P33764, P35466, P35467, P50114, P50116, P50117, P56565, P62818, P62819, P63083, P63084
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
17 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 10 |
| Likely benign | 2 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
384 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 1:153607689:TGTC:T | acceptor_gain | 1.0000 |
| 1:153607690:GTC:G | acceptor_gain | 1.0000 |
| 1:153607691:TC:T | acceptor_gain | 1.0000 |
| 1:153607692:CC:C | acceptor_gain | 1.0000 |
| 1:153607693:C:CC | acceptor_gain | 1.0000 |
| 1:153607993:CCTTA:C | donor_loss | 1.0000 |
| 1:153607994:CTTA:C | donor_loss | 1.0000 |
| 1:153607995:TTA:T | donor_loss | 1.0000 |
| 1:153607996:TAC:T | donor_loss | 1.0000 |
| 1:153607997:A:AC | donor_gain | 1.0000 |
| 1:153607997:A:C | donor_loss | 1.0000 |
| 1:153607997:AC:A | donor_gain | 1.0000 |
| 1:153607998:C:CG | donor_gain | 1.0000 |
| 1:153607998:CC:C | donor_gain | 1.0000 |
| 1:153607998:CCG:C | donor_gain | 1.0000 |
| 1:153607998:CCGA:C | donor_gain | 1.0000 |
| 1:153608174:GGGC:G | acceptor_gain | 1.0000 |
| 1:153608178:C:CC | acceptor_gain | 1.0000 |
| 1:153608183:C:CT | acceptor_gain | 1.0000 |
| 1:153608186:C:CT | acceptor_gain | 1.0000 |
| 1:153608186:C:T | acceptor_gain | 1.0000 |
| 1:153608187:A:T | acceptor_gain | 1.0000 |
| 1:153607688:GTGTC:G | acceptor_gain | 0.9900 |
| 1:153607693:C:T | acceptor_gain | 0.9900 |
| 1:153608173:GGGGC:G | acceptor_gain | 0.9900 |
| 1:153608175:GGC:G | acceptor_gain | 0.9900 |
| 1:153608176:GC:G | acceptor_gain | 0.9900 |
| 1:153608177:CC:C | acceptor_gain | 0.9900 |
| 1:153609229:AGGGG:A | donor_gain | 0.9900 |
| 1:153608688:C:A | donor_gain | 0.9800 |
AlphaMissense
0 scored. Top likely-pathogenic:
dbSNP variants (sampled 300 via entrez): RS1000210330 (1:153609290 C>G), RS1000417429 (1:153611234 C>A,G), RS1000536647 (1:153610208 G>A,T), RS1000585430 (1:153609084 A>G), RS1000679863 (1:153610270 T>C), RS1000949656 (1:153610449 T>C), RS1001330521 (1:153609479 C>T), RS1001836786 (1:153615047 C>A,T), RS1001884878 (1:153611038 C>G,T), RS1002292710 (1:153611136 A>C,T), RS1002418026 (1:153608762 A>G), RS1003213451 (1:153607593 C>A,G,T), RS1003233935 (1:153612109 AACAC>A,AAC,AACACAC), RS1003334724 (1:153612272 G>C), RS1003580250 (1:153607039 G>A)
Disease associations
OMIM: gene MIM:617437 | 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: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
53 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Benzo(a)pyrene | affects methylation, decreases methylation, increases expression | 5 |
| sodium arsenite | increases expression, decreases expression, affects cotreatment, increases abundance | 3 |
| bisphenol A | affects expression, decreases expression | 2 |
| Estradiol | affects expression, decreases expression | 2 |
| Tobacco Smoke Pollution | affects expression, increases expression | 2 |
| Valproic Acid | decreases expression, increases expression | 2 |
| Cadmium Chloride | increases expression, decreases reaction, increases abundance, increases palmitoylation | 2 |
| pirinixic acid | affects binding, decreases expression, increases activity | 1 |
| pyrogallol 1,3-dimethyl ether | affects cotreatment, affects localization, decreases expression | 1 |
| tris(2-butoxyethyl) phosphate | affects expression | 1 |
| beta-lapachone | increases expression | 1 |
| 2-bromopalmitate | decreases reaction, increases abundance, increases palmitoylation | 1 |
| manganese chloride | increases abundance, affects cotreatment, decreases expression | 1 |
| lewisite | increases expression | 1 |
| 2,3-dimethoxy-1,4-naphthoquinone | increases expression | 1 |
| perfluorooctane sulfonic acid | increases expression | 1 |
| chloropicrin | decreases expression | 1 |
| erucylphospho-N,N,N-trimethylpropylammonium | increases expression | 1 |
| ICG 001 | decreases expression | 1 |
| bisphenol S | increases expression | 1 |
| (+)-JQ1 compound | decreases expression | 1 |
| bisphenol AF | increases expression | 1 |
| Sunitinib | decreases expression | 1 |
| Arsenic | affects cotreatment, decreases expression, increases abundance | 1 |
| Atrazine | increases expression | 1 |
| Cadmium | increases abundance, increases palmitoylation, decreases reaction | 1 |
| Carbamazepine | affects expression | 1 |
| Diethylhexyl Phthalate | increases expression | 1 |
| Diethylnitrosamine | increases expression | 1 |
| Doxorubicin | decreases expression | 1 |
Cellosaurus cell lines
1 cell lines: 1 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_B2EG | Abcam HeLa S100A16 KO | Cancer cell line | Female |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.