S100A14
gene geneOn this page
Also known as S100A15BCMP84
Summary
S100A14 (S100 calcium binding protein A14, HGNC:18901) is a protein-coding gene on chromosome 1q21.3, encoding Protein S100-A14 (Q9HCY8). Modulates P53/TP53 protein levels, and thereby plays a role in the regulation of cell survival and apoptosis.
This gene encodes a member of the S100 protein family which contains an EF-hand motif and binds calcium. The gene is located in a cluster of S100 genes on chromosome 1. Levels of the encoded protein have been found to be lower in cancerous tissue and associated with metastasis suggesting a tumor suppressor function (PMID: 19956863, 19351828).
Source: NCBI Gene 57402 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 25 total
- MANE Select transcript:
NM_020672
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:18901 |
| Approved symbol | S100A14 |
| Name | S100 calcium binding protein A14 |
| Location | 1q21.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | S100A15, BCMP84 |
| Ensembl gene | ENSG00000189334 |
| Ensembl biotype | protein_coding |
| OMIM | 607986 |
| Entrez | 57402 |
Gene structure
Transcript identifiers
Ensembl transcripts: 8 — 6 protein_coding, 2 protein_coding_CDS_not_defined
ENST00000344616, ENST00000368700, ENST00000368701, ENST00000368702, ENST00000469571, ENST00000476873, ENST00000859573, ENST00000946612
RefSeq mRNA: 1 — MANE Select: NM_020672
NM_020672
CCDS: CCDS1046
Canonical transcript exons
ENST00000344616 — 4 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001387931 | 153616295 | 153616325 |
| ENSE00003619904 | 153615235 | 153615381 |
| ENSE00003630533 | 153615829 | 153615936 |
| ENSE00003890238 | 153614255 | 153615022 |
Expression profiles
Bgee: expression breadth ubiquitous, 206 present calls, max score 99.94.
FANTOM5 (CAGE): breadth broad, TPM avg 26.8678 / max 1473.6466, expressed in 437 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 14689 | 26.8505 | 436 |
| 14688 | 0.0173 | 6 |
Top tissues by expression
281 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| lower esophagus mucosa | UBERON:0035834 | 99.94 | gold quality |
| pharyngeal mucosa | UBERON:0000355 | 99.63 | gold quality |
| esophagus mucosa | UBERON:0002469 | 99.60 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 99.46 | gold quality |
| tongue squamous epithelium | UBERON:0006919 | 99.36 | gold quality |
| skin of abdomen | UBERON:0001416 | 99.28 | gold quality |
| oral cavity | UBERON:0000167 | 99.08 | gold quality |
| body of tongue | UBERON:0011876 | 99.01 | gold quality |
| skin of leg | UBERON:0001511 | 98.84 | gold quality |
| gingiva | UBERON:0001828 | 98.83 | gold quality |
| rectum | UBERON:0001052 | 98.82 | gold quality |
| gingival epithelium | UBERON:0001949 | 98.79 | gold quality |
| zone of skin | UBERON:0000014 | 98.61 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 98.41 | gold quality |
| mammalian vulva | UBERON:0000997 | 98.21 | gold quality |
| penis | UBERON:0000989 | 98.05 | gold quality |
| squamous epithelium | UBERON:0006914 | 97.93 | gold quality |
| epithelium of esophagus | UBERON:0001976 | 97.81 | gold quality |
| nasal cavity epithelium | UBERON:0005384 | 97.75 | gold quality |
| nipple | UBERON:0002030 | 97.71 | gold quality |
| tongue | UBERON:0001723 | 97.66 | gold quality |
| ileal mucosa | UBERON:0000331 | 97.51 | gold quality |
| cervix epithelium | UBERON:0004801 | 97.51 | gold quality |
| mouth mucosa | UBERON:0003729 | 97.41 | gold quality |
| hair follicle | UBERON:0002073 | 97.38 | gold quality |
| duodenum | UBERON:0002114 | 97.35 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 97.24 | gold quality |
| upper arm skin | UBERON:0004263 | 97.19 | gold quality |
| minor salivary gland | UBERON:0001830 | 97.15 | gold quality |
| upper leg skin | UBERON:0004262 | 96.73 | gold quality |
Single-cell (SCXA)
Detected in 17 experiment(s), a significant marker in 16.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-HCAD-1 | yes | 8744.09 |
| E-MTAB-8142 | yes | 5265.10 |
| E-MTAB-8060 | yes | 2023.79 |
| E-CURD-79 | yes | 1992.03 |
| E-CURD-114 | yes | 1880.29 |
| E-MTAB-8221 | yes | 1545.78 |
| E-MTAB-10885 | yes | 1405.08 |
| E-MTAB-8495 | yes | 1191.86 |
| E-MTAB-10662 | yes | 588.81 |
| E-ANND-5 | yes | 573.54 |
| E-MTAB-8410 | yes | 62.70 |
| E-MTAB-5061 | yes | 26.93 |
| E-HCAD-10 | yes | 25.33 |
| E-MTAB-10553 | yes | 24.89 |
| E-HCAD-9 | yes | 10.80 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
19 targeting S100A14, 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-6077 | 99.99 | 68.04 | 2299 |
| HSA-MIR-4725-3P | 99.96 | 69.53 | 2520 |
| HSA-MIR-6780B-5P | 99.96 | 69.60 | 2562 |
| HSA-MIR-2110 | 99.96 | 66.68 | 1930 |
| HSA-MIR-335-3P | 99.93 | 73.36 | 4958 |
| HSA-MIR-153-5P | 99.89 | 73.86 | 6317 |
| HSA-MIR-4271 | 99.88 | 68.32 | 2244 |
| HSA-MIR-5004-5P | 99.68 | 66.63 | 1294 |
| HSA-MIR-6871-3P | 99.43 | 68.85 | 741 |
| HSA-MIR-3678-3P | 99.31 | 67.10 | 1432 |
| HSA-MIR-6852-5P | 99.17 | 66.69 | 2073 |
| HSA-MIR-4477A | 98.83 | 69.75 | 2952 |
| HSA-MIR-4451 | 98.82 | 68.17 | 1455 |
| HSA-MIR-7977 | 98.65 | 66.18 | 2590 |
| HSA-MIR-450A-2-3P | 97.91 | 67.56 | 1459 |
| HSA-MIR-4456 | 97.50 | 64.88 | 1678 |
| HSA-MIR-6841-5P | 97.19 | 67.29 | 409 |
| HSA-MIR-6736-3P | 96.98 | 65.22 | 1342 |
| HSA-MIR-624-5P | 96.00 | 68.88 | 728 |
Literature-anchored findings (GeneRIF, showing 31)
- Data constitute strong evidence in support of the notion that S100A14 might function as a cancer suppressor working in the P53 pathway and play a role in esophageal carcinogenesis. (PMID:19351828)
- S100A14 and S100A4 have roles in metastasis in colorectal cancer after surgery (PMID:19956863)
- S100A14 induces cell apoptosis is partially in a RAGE-dependent manner (PMID:21559403)
- S100A14 provides a novel role in oral squamous cell carcinoma cell proliferation by inducing G1-arrest (PMID:22032898)
- that S100A14 promotes cell motility and invasiveness by regulating the expression and function of MMP2 in a p53-dependent manner. (PMID:22451655)
- The solution structure of homodimeric S100A14 in the apo state solved by NMR (PMID:23197251)
- High S100A14 expression is associated with metastasis of hepatocellular carcinoma. (PMID:23886191)
- S100A14 interacts with S100A16 and regulates its expression in human cancer cells. (PMID:24086685)
- Data demonstrate that S100A14 is transcriptionally regulated by JunB and involved in esophageal squamous cell carcinoma cell differentiation. (PMID:24107296)
- Data show that S100A14 and HER2 are colocalized in plasma membrane of breast cancer tissue cells and breast cancer cell lines. (PMID:24285542)
- Data indicate that S100A14 has a crucial role in EOC progression, and its overexpression is associated with poor prognosis. (PMID:24939856)
- Data show that the genetic variant 425G>A on the 5’-UTR of calcium-binding protein S100A14 was associated with reduced S100A14 expression in gastric cancer (GC) cells. (PMID:25266115)
- The antimicrobial peptides psoriasin (S100A7) and koebnerisin (S100A15) suppress extracellular matrix production and proliferation of human fibroblasts (PMID:25502330)
- Co-expression of S100A14 and S100A16 correlates with a poor prognosis in human breast cancer and promotes cancer cell invasion (PMID:25884418)
- S100A14 is expressed in epithelial-like, but not in mesenchymal-like, triple-negative breast cancer cells in vitro. (PMID:25912829)
- We identified a two-gene signature including KCNN4 and S100A14 which was related to recurrence in optimally debulked serous ovarian carcinoma patients (PMID:27270322)
- Increased S100A15 expression and decreased DNA methylation of its gene promoter region were associated with high metastasis potential and poor outcome in lung adenocarcinoma. (PMID:28498804)
- results indicate that S100A14 may have a role in the induction of differentiation and inhibition of cell metastasis in gastric cancer. (PMID:28726786)
- S100A14 is expressed in a subset of lung adenocarcinoma, and its expression is related to certain clinicopathological parameters. Furthermore, S100A14 expression was strongly correlated with migration and invasion in lung adenocarcinoma cells. (PMID:28950283)
- S100A14 increases the motility of lung adenocarcinoma cells, and might be a diagnostic and prognostic serum biomarker and potential therapeutic target for lung adenocarcinoma. (PMID:29733545)
- Low S100A14 expression is associated with Colorectal Cancer. (PMID:31882495)
- Loss of S100A14 expression at the tumor-invading front correlates with poor differentiation and worse prognosis in oral squamous cell carcinoma. (PMID:32202693)
- A S100A14-CCL2/CXCL5 signaling axis drives breast cancer metastasis. (PMID:32483412)
- S100A14 suppresses metastasis of nasopharyngeal carcinoma by inhibition of NF-kB signaling through degradation of IRAK1. (PMID:32555330)
- S100A14 serum level and its correlation with prognostic factors in breast cancer. (PMID:32984913)
- S100A14 promotes progression and gemcitabine resistance in pancreatic cancer. (PMID:33579599)
- S100A14 inhibits cell growth and epithelial-mesenchymal transition (EMT) in prostate cancer through FAT1-mediated Hippo signaling pathway. (PMID:33890248)
- Circ_0003221 Downregulation Restrains Cervical Cancer Cell Growth, Metastasis and Angiogenesis by Governing the miR-139-3p/S100A14 Pathway. (PMID:35023052)
- Construction of immune-related signature and identification of S100A14 determining immune-suppressive microenvironment in pancreatic cancer. (PMID:35953822)
- Induction of Antimicrobial Protein S100A15 Expression by Oral Microbial Pathogens Is Toll-like Receptors-Dependent Activation of c-Jun-N-Terminal Kinase (JNK), p38, and NF-kappaB Pathways. (PMID:36982421)
- LncRNA CTBP1-AS inhibits TP63-mediated activation of S100A14 during prostate cancer progression. (PMID:38476086)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | s100s | ENSDARG00000036773 |
| danio_rerio | s100a10a | ENSDARG00000037425 |
| danio_rerio | s100t | ENSDARG00000055589 |
| mus_musculus | S100a14 | ENSMUSG00000042306 |
| rattus_norvegicus | S100a14 | ENSRNOG00000069413 |
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), S100A4 (ENSG00000196154), S100A5 (ENSG00000196420), S100A2 (ENSG00000196754), S100A10 (ENSG00000197747), S100A6 (ENSG00000197956)
Protein
Protein identifiers
Protein S100-A14 — Q9HCY8 (reviewed: Q9HCY8)
Alternative names: S100 calcium-binding protein A14
All UniProt accessions (1): Q9HCY8
UniProt curated annotations — full annotation on UniProt →
Function. Modulates P53/TP53 protein levels, and thereby plays a role in the regulation of cell survival and apoptosis. Depending on the context, it can promote cell proliferation or apoptosis. Plays a role in the regulation of cell migration by modulating the levels of MMP2, a matrix protease that is under transcriptional control of P53/TP53. Does not bind calcium.
Subunit / interactions. Homodimer. Interacts with AGER.
Subcellular location. Cytoplasm.
Tissue specificity. Expressed at highest levels in colon and at moderate levels in thymus, kidney, liver, small intestine, and lung. Low expression in heart and no expression is seen in brain, skeletal muscle, spleen, placenta and peripheral blood leukocytes.
Similarity. Belongs to the S-100 family.
RefSeq proteins (1): NP_065723* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR011992 | EF-hand-dom_pair | Homologous_superfamily |
| IPR013787 | S100_Ca-bd_sub | Domain |
Pfam: PF01023
UniProt features (11 total): helix 5, strand 2, turn 2, chain 1, domain 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 2M0R | SOLUTION NMR |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9HCY8-F1 | 77.33 | 0.30 |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 179 (showing top):
GOBP_MYELOID_LEUKOCYTE_MIGRATION, GOBP_CELL_CHEMOTAXIS, JAEGER_METASTASIS_DN, AREB6_01, GGGTGGRR_PAX4_03, GOBP_REGULATION_OF_LEUKOCYTE_MIGRATION, GOBP_LEUKOCYTE_CHEMOTAXIS, GOBP_REGULATION_OF_MONONUCLEAR_CELL_MIGRATION, KANG_FLUOROURACIL_RESISTANCE_DN, GOBP_POSITIVE_REGULATION_OF_RESPONSE_TO_EXTERNAL_STIMULUS, GOBP_TAXIS, GOBP_LEUKOCYTE_MIGRATION, GOBP_REGULATION_OF_IMMUNE_RESPONSE, RICKMAN_METASTASIS_DN, GOBP_DEFENSE_RESPONSE_TO_OTHER_ORGANISM
GO Biological Process (7): apoptotic process (GO:0006915), response to lipopolysaccharide (GO:0032496), toll-like receptor 4 signaling pathway (GO:0034142), defense response to bacterium (GO:0042742), calcium ion homeostasis (GO:0055074), positive regulation of granulocyte chemotaxis (GO:0071624), positive regulation of monocyte chemotaxis (GO:0090026)
GO Molecular Function (4): calcium ion binding (GO:0005509), chemokine receptor binding (GO:0042379), calcium-dependent protein binding (GO:0048306), protein binding (GO:0005515)
GO Cellular Component (4): obsolete extracellular space (GO:0005615), 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 |
|---|---|
| positive regulation of leukocyte chemotaxis | 2 |
| cellular anatomical structure | 2 |
| programmed cell death | 1 |
| apoptotic signaling pathway | 1 |
| execution phase of apoptosis | 1 |
| response to molecule of bacterial origin | 1 |
| response to lipid | 1 |
| response to oxygen-containing compound | 1 |
| cell surface toll-like receptor signaling pathway | 1 |
| defense response | 1 |
| response to bacterium | 1 |
| monoatomic cation homeostasis | 1 |
| inorganic ion homeostasis | 1 |
| granulocyte chemotaxis | 1 |
| regulation of granulocyte chemotaxis | 1 |
| monocyte chemotaxis | 1 |
| positive regulation of mononuclear cell migration | 1 |
| regulation of monocyte chemotaxis | 1 |
| metal ion binding | 1 |
| G protein-coupled receptor binding | 1 |
| cytokine receptor binding | 1 |
| calcium ion binding | 1 |
| protein binding | 1 |
| binding | 1 |
| cytoplasm | 1 |
| extracellular vesicle | 1 |
| intracellular anatomical structure | 1 |
Protein interactions and networks
STRING
706 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| S100A14 | S100A16 | Q96FQ6 | 802 |
| S100A14 | HRNR | Q86YZ3 | 777 |
| S100A14 | RNF6 | Q9Y252 | 683 |
| S100A14 | DLEC1 | Q9Y238 | 669 |
| S100A14 | NUCB1 | Q02818 | 665 |
| S100A14 | LZTS1 | Q9Y250 | 650 |
| S100A14 | S100A7A | Q86SG5 | 643 |
| S100A14 | S100A2 | P29034 | 604 |
| S100A14 | S100A6 | P06703 | 594 |
| S100A14 | S100A3 | P33764 | 591 |
| S100A14 | S100A5 | P33763 | 582 |
| S100A14 | S100A1 | P23297 | 570 |
| S100A14 | ADH1B | P00325 | 544 |
| S100A14 | S100A7 | P31151 | 542 |
| S100A14 | S100Z | Q8WXG8 | 541 |
IntAct
64 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| XRCC5 | XRCC6 | psi-mi:“MI:0914”(association) | 0.970 |
| S100A14 | S100A16 | psi-mi:“MI:0915”(physical association) | 0.780 |
| S100A16 | S100A14 | psi-mi:“MI:0915”(physical association) | 0.780 |
| ASF1A | HAT1 | psi-mi:“MI:0914”(association) | 0.640 |
| CEP20 | CEP20 | psi-mi:“MI:0915”(physical association) | 0.590 |
| S100A14 | MAGEA6 | psi-mi:“MI:0915”(physical association) | 0.560 |
| S100A13 | S100A14 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ERBB2 | NDUFA4 | psi-mi:“MI:0914”(association) | 0.530 |
| S100A14 | MYH9 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| S100A14 | SLC8A1 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| TRPM4 | S100A14 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| S100A14 | GOT1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| AKT1 | S100A14 | psi-mi:“MI:0915”(physical association) | 0.370 |
| AURKA | S100A14 | psi-mi:“MI:0915”(physical association) | 0.370 |
| S100A14 | CASP8 | psi-mi:“MI:0915”(physical association) | 0.370 |
| FGFR2 | S100A14 | psi-mi:“MI:0915”(physical association) | 0.370 |
| SMAD4 | S100A14 | psi-mi:“MI:0915”(physical association) | 0.370 |
| STK11 | S100A14 | psi-mi:“MI:0915”(physical association) | 0.370 |
| ECH1 | A2ML1 | psi-mi:“MI:0914”(association) | 0.350 |
| ZIC1 | IMPA2 | psi-mi:“MI:0914”(association) | 0.350 |
| NEDD4 | HMGB1P1 | psi-mi:“MI:0914”(association) | 0.350 |
| PRDM16 | GAPDHS | psi-mi:“MI:0914”(association) | 0.350 |
| TDRKH | GGCT | psi-mi:“MI:0914”(association) | 0.350 |
| HTRA4 | PSMD12 | psi-mi:“MI:0914”(association) | 0.350 |
| ATG16L1 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (75): S100A14 (Two-hybrid), S100A16 (Two-hybrid), S100A14 (Affinity Capture-RNA), S100A14 (Affinity Capture-MS), S100A14 (Affinity Capture-MS), S100A14 (Affinity Capture-MS), S100A14 (Affinity Capture-MS), S100A16 (Two-hybrid), S100A14 (Affinity Capture-MS), S100A14 (Two-hybrid), S100A14 (Two-hybrid), S100A14 (Two-hybrid), S100A14 (Two-hybrid), S100A14 (Two-hybrid), S100A14 (Two-hybrid)
ESM2 similar proteins: A5PJN0, A8J3A0, F1SSF9, O73763, O76038, O81223, O81445, O93409, P02613, P04113, P05938, P05944, P05963, P08051, P08052, P13543, P18087, P30644, P45961, Q01449, Q02045, Q06A97, Q0P571, Q0VFG3, Q10131, Q3HRN7, Q3HRN9, Q3HRP0, Q3HRP2, Q3HRP5, Q3MHP3, Q5QIT3, Q5XJX1, Q63ZJ3, Q6R556, Q75KU4, Q7XC27, Q8CD10, Q8IYU8, Q8LAS7
Diamond homologs: O77691, O77791, P02632, P02633, P02634, P02638, P02639, P04163, P04271, P04631, P05109, P05942, P05943, P05964, P06702, P06703, P07091, P08207, P10462, P14069, P20930, P23297, P24479, P24480, P25815, P26447, P27003, P27005, P28318, P28782, P28783, P29034, P29377, P30801, P31725, P31949, P31950, P33763, P33764, P35466
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
25 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 21 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
0 predictions. Top by Δscore:
AlphaMissense
682 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 1:153614957:G:C | F81L | 0.994 |
| 1:153614957:G:T | F81L | 0.994 |
| 1:153614959:A:G | F81L | 0.994 |
| 1:153615266:A:G | L49P | 0.994 |
| 1:153615325:A:C | F29L | 0.992 |
| 1:153615325:A:T | F29L | 0.992 |
| 1:153615327:A:G | F29L | 0.992 |
| 1:153614947:A:G | W85R | 0.991 |
| 1:153614947:A:T | W85R | 0.991 |
| 1:153615326:A:G | F29S | 0.989 |
| 1:153615351:C:G | A21P | 0.989 |
| 1:153615275:A:G | L46P | 0.988 |
| 1:153615338:A:G | L25P | 0.987 |
| 1:153614925:G:T | A92D | 0.986 |
| 1:153615355:C:A | E19D | 0.986 |
| 1:153615355:C:G | E19D | 0.986 |
| 1:153615251:A:G | L54P | 0.985 |
| 1:153614948:G:C | F84L | 0.984 |
| 1:153614948:G:T | F84L | 0.984 |
| 1:153614950:A:G | F84L | 0.984 |
| 1:153614958:A:C | F81C | 0.984 |
| 1:153614958:A:G | F81S | 0.984 |
| 1:153615290:A:G | L41P | 0.984 |
| 1:153615347:A:T | I22N | 0.983 |
| 1:153615338:A:T | L25H | 0.980 |
| 1:153615356:T:A | E19V | 0.980 |
| 1:153614945:C:A | W85C | 0.979 |
| 1:153614945:C:G | W85C | 0.979 |
| 1:153615290:A:T | L41Q | 0.976 |
| 1:153614949:A:G | F84S | 0.975 |
dbSNP variants (sampled 300 via entrez): RS1001624922 (1:153615290 A>G), RS1001836786 (1:153615047 C>A,T), RS1003413657 (1:153617881 C>T), RS1003633157 (1:153617791 C>T), RS1003665967 (1:153618139 C>T), RS1004208200 (1:153617513 C>T), RS1004474835 (1:153613928 A>C,G,T), RS1004931918 (1:153616928 G>C), RS1005418348 (1:153615186 G>A), RS1005498546 (1:153616585 CAG>C), RS1005738345 (1:153618111 G>A), RS1006973156 (1:153614196 C>T), RS1008006357 (1:153615934 G>A,C), RS1009065027 (1:153617160 G>C,T), RS1010355132 (1:153616519 G>A)
Disease associations
OMIM: gene MIM:607986 | 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
57 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | increases expression, affects cotreatment | 5 |
| sodium arsenite | decreases expression, increases expression | 3 |
| perfluorooctanoic acid | increases expression, decreases expression | 2 |
| mercuric bromide | increases expression, affects cotreatment | 2 |
| Benzo(a)pyrene | decreases methylation, increases expression | 2 |
| Phenylmercuric Acetate | increases expression, affects cotreatment | 2 |
| Tobacco Smoke Pollution | affects expression, increases expression | 2 |
| Cyclosporine | increases expression | 2 |
| Aflatoxin B1 | increases expression, increases methylation, decreases expression | 2 |
| Cadmium Chloride | increases abundance, decreases expression | 2 |
| p-Chloromercuribenzoic Acid | affects cotreatment, increases expression | 2 |
| aristolochic acid I | increases expression | 1 |
| dicrotophos | decreases expression | 1 |
| methyleugenol | increases expression | 1 |
| bisphenol A | decreases expression | 1 |
| tris(2-butoxyethyl) phosphate | affects expression | 1 |
| beta-lapachone | increases expression | 1 |
| methylparaben | decreases expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | increases expression | 1 |
| butyraldehyde | increases expression | 1 |
| cupric chloride | decreases expression | 1 |
| lewisite | increases expression | 1 |
| isobutyl alcohol | affects cotreatment, increases abundance, increases expression | 1 |
| perfluoro-n-nonanoic acid | increases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression | 1 |
| ICG 001 | decreases expression | 1 |
| abrine | increases expression | 1 |
| dorsomorphin | affects cotreatment, increases expression | 1 |
| bisphenol S | decreases expression | 1 |
| Oxaliplatin | increases expression | 1 |
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.