S100A13
gene geneOn this page
Summary
S100A13 (S100 calcium binding protein A13, HGNC:10490) is a protein-coding gene on chromosome 1q21.3, encoding Protein S100-A13 (Q99584). Plays a role in the export of proteins that lack a signal peptide and are secreted by an alternative pathway.
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 is widely expressed in various types of tissues with a high expression level in thyroid gland. In smooth muscle cells, this protein co-expresses with other family members in the nucleus and in stress fibers, suggesting diverse functions in signal transduction. Multiple alternatively spliced transcript variants encoding the same protein have been found for this gene.
Source: NCBI Gene 6284 — RefSeq curated summary.
At a glance
- GWAS associations: 1
- Clinical variants (ClinVar): 28 total
- MANE Select transcript:
NM_001024211
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:10490 |
| Approved symbol | S100A13 |
| Name | S100 calcium binding protein A13 |
| Location | 1q21.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000189171 |
| Ensembl biotype | protein_coding |
| OMIM | 601989 |
| Entrez | 6284 |
Gene structure
Transcript identifiers
Ensembl transcripts: 44 — 41 protein_coding, 3 protein_coding_CDS_not_defined
ENST00000339556, ENST00000392622, ENST00000392623, ENST00000440685, ENST00000469931, ENST00000472233, ENST00000476133, ENST00000484413, ENST00000491177, ENST00000497086, ENST00000607839, ENST00000883331, ENST00000883332, ENST00000883333, ENST00000883334, ENST00000883335, ENST00000883336, ENST00000883337, ENST00000883338, ENST00000883339, ENST00000883340, ENST00000883341, ENST00000883342, ENST00000914275, ENST00000914276, ENST00000914277, ENST00000914278, ENST00000914279, ENST00000914280, ENST00000914281, ENST00000914282, ENST00000914283, ENST00000914284, ENST00000914285, ENST00000914286, ENST00000914287, ENST00000914288, ENST00000914289, ENST00000914290, ENST00000914291, ENST00000914292, ENST00000972165, ENST00000972166, ENST00000972167
RefSeq mRNA: 5 — MANE Select: NM_001024211
NM_001024210, NM_001024211, NM_001024212, NM_001024213, NM_005979
CCDS: CCDS30874
Canonical transcript exons
ENST00000476133 — 3 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001447797 | 153618799 | 153619038 |
| ENSE00003916833 | 153627483 | 153627505 |
| ENSE00004031446 | 153626320 | 153626533 |
Expression profiles
Bgee: expression breadth ubiquitous, 153 present calls, max score 99.42.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 57.4385 / max 332.3969, expressed in 1814 samples.
FANTOM5 promoters (17 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 14699 | 22.1872 | 1466 |
| 14700 | 18.7516 | 1537 |
| 14707 | 7.9715 | 1749 |
| 14701 | 2.3442 | 1260 |
| 14698 | 2.0136 | 850 |
| 14697 | 1.6002 | 672 |
| 14703 | 0.7583 | 145 |
| 14702 | 0.5764 | 376 |
| 14693 | 0.2642 | 113 |
| 14694 | 0.2542 | 108 |
Top tissues by expression
153 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| right lobe of thyroid gland | UBERON:0001119 | 99.42 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 99.40 | gold quality |
| thyroid gland | UBERON:0002046 | 99.38 | gold quality |
| calcaneal tendon | UBERON:0003701 | 99.36 | gold quality |
| substantia nigra | UBERON:0002038 | 99.30 | gold quality |
| putamen | UBERON:0001874 | 99.19 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 99.17 | gold quality |
| amygdala | UBERON:0001876 | 99.16 | gold quality |
| spinal cord | UBERON:0002240 | 99.13 | gold quality |
| temporal lobe | UBERON:0001871 | 99.09 | gold quality |
| right uterine tube | UBERON:0001302 | 99.07 | gold quality |
| metanephros cortex | UBERON:0010533 | 99.00 | gold quality |
| caudate nucleus | UBERON:0001873 | 98.98 | gold quality |
| nucleus accumbens | UBERON:0001882 | 98.98 | gold quality |
| hypothalamus | UBERON:0001898 | 98.94 | gold quality |
| right atrium auricular region | UBERON:0006631 | 98.91 | gold quality |
| mucosa of stomach | UBERON:0001199 | 98.87 | gold quality |
| apex of heart | UBERON:0002098 | 98.87 | gold quality |
| subcutaneous adipose tissue | UBERON:0002190 | 98.83 | gold quality |
| adipose tissue | UBERON:0001013 | 98.76 | gold quality |
| thoracic mammary gland | UBERON:0005200 | 98.76 | gold quality |
| Ammon’s horn | UBERON:0001954 | 98.70 | gold quality |
| omental fat pad | UBERON:0010414 | 98.70 | gold quality |
| stromal cell of endometrium | CL:0002255 | 98.64 | gold quality |
| endometrium epithelium | UBERON:0004811 | 98.58 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 98.53 | gold quality |
| sigmoid colon | UBERON:0001159 | 98.50 | gold quality |
| right lung | UBERON:0002167 | 98.43 | gold quality |
| minor salivary gland | UBERON:0001830 | 98.42 | gold quality |
| fallopian tube | UBERON:0003889 | 98.42 | gold quality |
Single-cell (SCXA)
Detected in 21 experiment(s), a significant marker in 20.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-8060 | yes | 530.62 |
| E-GEOD-109979 | yes | 269.74 |
| E-MTAB-6701 | yes | 126.22 |
| E-HCAD-1 | yes | 80.03 |
| E-MTAB-8410 | yes | 64.96 |
| E-MTAB-10553 | yes | 42.47 |
| E-ANND-3 | yes | 41.60 |
| E-GEOD-134144 | yes | 36.28 |
| E-CURD-46 | yes | 35.02 |
| E-MTAB-10287 | yes | 33.31 |
| E-HCAD-10 | yes | 27.30 |
| E-GEOD-81547 | yes | 23.39 |
| E-MTAB-7316 | yes | 22.57 |
| E-CURD-112 | yes | 17.87 |
| E-HCAD-9 | yes | 17.24 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): PBRM1
Literature-anchored findings (GeneRIF, showing 18)
- detected in both cells and fibers of the hippocampus at 12 weeks gestation, slightly stronger at 20 weeks, and then decreased with age. In the temporal cortex, strong in all cellular layers at 12 to 24 weeks, declined with age from 28 weeks onwards. (PMID:12645008)
- Stress-induced export of IL-1alpha involves the intracellular association with the Cu2+-binding protein, S100A13; the expression of a S100A13 mutant functions as a dominant-negative repressor of IL-1alpha release. (PMID:12746488)
- S100A13 protein translocation in response to extracellular S100 is mediated by receptor for advanced glycation endproducts in human endothelial cells (PMID:15033494)
- data show that the expression of endoglin and S100A13 protein corresponds to the activation of the endothelial cells in the process of endometriotic angiogenesis (PMID:15821778)
- In human astrocytic gliomas, S100A13 was significantly up-regulated in high-grade vascularized gliomas. Moreover, S100A13 expression significantly correlated with microvessel density and tumour grading. (PMID:16773219)
- Human S100A13 was heterologously expressed in Escherichia coli, purified and crystallized by the hanging-drop vapour-diffusion method. (PMID:17077500)
- S100A13 is a homodimer with four EF-hand motifs in an asymmetric unit, displaying a folding pattern similar to other S100 members. S100A13 has the unique structural feature with all alpha-helices being amphiphilic. (PMID:17374362)
- Despite the high similarity of the backbone conformation in each protomer, the crystal structures of human S100A13 at pH 7.5 and at pH 6.0 exhibit recognizable differences in the relative orientation of the protomers within the dimer (PMID:18259052)
- S100A13 is expressed in melanocytic lesions when the angiogenic switch occurs and it may cooperate with VEGF-A in supporting the formation of new blood vessels, favoring the shift from radial to vertical tumor growth. (PMID:20208480)
- S100A13 promotes the release of FGF-1 protein, but does not affect the transportation of FGF-1 protein in human umbilical vein endothelial cells. (PMID:20863990)
- the IL1alpha-S100A13 tetrameric complex is the key complex formed during the non-classical pathway of IL1alpha release (PMID:21270123)
- S100A13 is involved in cutaneous malignant melanoma resistance to DTIC/TMZ. (PMID:24722184)
- S100A13 interacts with the C2 domain of RAGE. (PMID:24982031)
- This is the first report for the association between HMGA1 and S100A13 expression in the modulation of thyroid cancer growth and invasion. (PMID:27008379)
- High S100A13 expression is closely associated with high intratumoral angiogenesis and poor prognosis in patients with stage I NSCLC. Immunohistochemical evaluation of S100A13 expression, along with an examination of the perioperative extent of angiolymphatic invasion, has value for predicting prognosis. (PMID:30047626)
- These findings unveil a critical role of the non-classical secretory pathway of IL-1alpha in cellular senescence and SASP regulation. (PMID:30670674)
- An atypical pulmonary fibrosis is associated with co-inheritance of mutations in the calcium binding protein genes S100A3 and S100A13. (PMID:31073086)
- Genome-wide analysis of DNA methylation identifies S100A13 as an epigenetic biomarker in individuals with chronic (>/= 30 years) type 2 diabetes without diabetic retinopathy. (PMID:32493412)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | s100v1 | ENSDARG00000070427 |
| danio_rerio | s100v2 | ENSDARG00000070702 |
| mus_musculus | S100a13 | ENSMUSG00000042312 |
| rattus_norvegicus | S100a13 | ENSRNOG00000079311 |
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), S100A14 (ENSG00000189334), S100A4 (ENSG00000196154), S100A5 (ENSG00000196420), S100A2 (ENSG00000196754), S100A10 (ENSG00000197747), S100A6 (ENSG00000197956)
Protein
Protein identifiers
Protein S100-A13 — Q99584 (reviewed: Q99584)
Alternative names: S100 calcium-binding protein A13
All UniProt accessions (1): Q99584
UniProt curated annotations — full annotation on UniProt →
Function. Plays a role in the export of proteins that lack a signal peptide and are secreted by an alternative pathway. Binds two calcium ions per subunit. Binds one copper ion. Binding of one copper ion does not interfere with calcium binding. Required for the copper-dependent stress-induced export of IL1A and FGF1. The calcium-free protein binds to lipid vesicles containing phosphatidylserine, but not to vesicles containing phosphatidylcholine.
Subunit / interactions. Homodimer. Part of a copper-dependent multiprotein complex containing S100A13, FGF1 and SYT1. Interacts with FGF1 and SYT1. Interacts with IL1A.
Subcellular location. Cytoplasm. Secreted.
Tissue specificity. Expressed in heart and skeletal muscle.
Similarity. Belongs to the S-100 family.
RefSeq proteins (5): NP_001019381, NP_001019382, NP_001019383, NP_001019384, NP_005970 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR011992 | EF-hand-dom_pair | Homologous_superfamily |
| IPR013787 | S100_Ca-bd_sub | Domain |
Pfam: PF01023
UniProt features (21 total): binding site 7, helix 6, strand 4, chain 1, domain 1, turn 1, modified residue 1
Structure
Experimental structures (PDB)
12 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 2EGD | X-RAY DIFFRACTION | 1.8 |
| 2H2K | X-RAY DIFFRACTION | 2 |
| 1YUR | SOLUTION NMR | |
| 1YUS | SOLUTION NMR | |
| 1YUT | SOLUTION NMR | |
| 1YUU | SOLUTION NMR | |
| 2K8M | SOLUTION NMR | |
| 2KI4 | SOLUTION NMR | |
| 2KI6 | SOLUTION NMR | |
| 2KOT | SOLUTION NMR | |
| 2L5X | SOLUTION NMR | |
| 2LE9 | SOLUTION NMR |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q99584-F1 | 80.91 | 0.09 |
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): 32; 37; 64; 66; 68; 70; 75
Post-translational modifications (1): 32
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 241 (showing top):
CHIARADONNA_NEOPLASTIC_TRANSFORMATION_KRAS_DN, KAAB_HEART_ATRIUM_VS_VENTRICLE_UP, GOBP_CANONICAL_NF_KAPPAB_SIGNAL_TRANSDUCTION, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_UP, DACOSTA_UV_RESPONSE_VIA_ERCC3_UP, GOBP_POSITIVE_REGULATION_OF_CYTOKINE_PRODUCTION, GOBP_VESICLE_MEDIATED_TRANSPORT, GOBP_INTERLEUKIN_1_PRODUCTION, GOBP_LEUKOCYTE_MEDIATED_IMMUNITY, BOYLAN_MULTIPLE_MYELOMA_D_DN, GOLDRATH_ANTIGEN_RESPONSE, GOBP_CELL_ACTIVATION_INVOLVED_IN_IMMUNE_RESPONSE, BROWNE_HCMV_INFECTION_48HR_DN, GOBP_MAST_CELL_ACTIVATION
GO Biological Process (5): positive regulation of cytokine production (GO:0001819), protein transport (GO:0015031), positive regulation of interleukin-1 alpha production (GO:0032730), positive regulation of canonical NF-kappaB signal transduction (GO:0043123), mast cell degranulation (GO:0043303)
GO Molecular Function (10): copper ion binding (GO:0005507), calcium ion binding (GO:0005509), zinc ion binding (GO:0008270), lipid binding (GO:0008289), fibroblast growth factor binding (GO:0017134), protein homodimerization activity (GO:0042803), calcium-dependent protein binding (GO:0048306), RAGE receptor binding (GO:0050786), protein binding (GO:0005515), metal ion binding (GO:0046872)
GO Cellular Component (9): extracellular region (GO:0005576), obsolete extracellular space (GO:0005615), nucleus (GO:0005634), nucleoplasm (GO:0005654), nucleolus (GO:0005730), cytoplasm (GO:0005737), cytosol (GO:0005829), plasma membrane (GO:0005886), perinuclear region of cytoplasm (GO:0048471)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 5 |
| transition metal ion binding | 2 |
| binding | 2 |
| nuclear lumen | 2 |
| cytoplasm | 2 |
| cytokine production | 1 |
| regulation of cytokine production | 1 |
| positive regulation of gene expression | 1 |
| positive regulation of multicellular organismal process | 1 |
| transport | 1 |
| intracellular protein localization | 1 |
| establishment of protein localization | 1 |
| interleukin-1 alpha production | 1 |
| regulation of interleukin-1 alpha production | 1 |
| positive regulation of interleukin-1 production | 1 |
| canonical NF-kappaB signal transduction | 1 |
| regulation of canonical NF-kappaB signal transduction | 1 |
| positive regulation of intracellular signal transduction | 1 |
| mast cell activation involved in immune response | 1 |
| mast cell mediated immunity | 1 |
| lysosome localization | 1 |
| leukocyte degranulation | 1 |
| establishment of organelle localization | 1 |
| metal ion binding | 1 |
| growth factor binding | 1 |
| identical protein binding | 1 |
| protein dimerization activity | 1 |
| calcium ion binding | 1 |
| protein binding | 1 |
| signaling receptor binding | 1 |
| cation binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| intracellular membraneless organelle | 1 |
| intracellular anatomical structure | 1 |
| membrane | 1 |
| cell periphery | 1 |
Protein interactions and networks
STRING
1026 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| S100A13 | SYT1 | P21579 | 982 |
| S100A13 | FGF1 | P05230 | 922 |
| S100A13 | IL1A | P01583 | 818 |
| S100A13 | PBRM1 | Q86U86 | 808 |
| S100A13 | SPHK1 | Q9NYA1 | 763 |
| S100A13 | CRABP2 | P29373 | 742 |
| S100A13 | S100A6 | P06703 | 717 |
| S100A13 | S100A3 | P33764 | 700 |
| S100A13 | S100A10 | P08206 | 685 |
| S100A13 | S100A2 | P29034 | 680 |
| S100A13 | S100Z | Q8WXG8 | 671 |
| S100A13 | CLEC1B | Q9P126 | 662 |
| S100A13 | HRNR | Q86YZ3 | 643 |
| S100A13 | S100A7 | P31151 | 584 |
| S100A13 | S100B | P04271 | 570 |
IntAct
57 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| KIFAP3 | KIF3C | psi-mi:“MI:0914”(association) | 0.640 |
| SDC2 | PDPK1 | psi-mi:“MI:0914”(association) | 0.640 |
| PLEKHF2 | S100A13 | psi-mi:“MI:0915”(physical association) | 0.560 |
| S100A13 | PLEKHF2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| S100A13 | S100A14 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TNF | S100A13 | psi-mi:“MI:0407”(direct interaction) | 0.560 |
| S100A13 | TNF | psi-mi:“MI:0407”(direct interaction) | 0.560 |
| SNRNP27 | UBA6 | psi-mi:“MI:0914”(association) | 0.530 |
| MGST3 | GAPDHS | psi-mi:“MI:0914”(association) | 0.530 |
| CCL5 | C4A | psi-mi:“MI:0914”(association) | 0.530 |
| S100A13 | TP53 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| S100A13 | SLC8A1 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| S100A13 | EEF1G | psi-mi:“MI:0915”(physical association) | 0.400 |
| FER1L5 | psi-mi:“MI:0915”(physical association) | 0.400 | |
| TK2 | psi-mi:“MI:0915”(physical association) | 0.400 | |
| S100A13 | S100A13 | psi-mi:“MI:0915”(physical association) | 0.370 |
| S100A13 | IGBP1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| IRF9 | S100A13 | psi-mi:“MI:0915”(physical association) | 0.370 |
| ESYT2 | psi-mi:“MI:0914”(association) | 0.350 | |
| E5 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| APP | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| SDC2 | METTL8 | psi-mi:“MI:0914”(association) | 0.350 |
| SPRY2 | SNX3 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (55): S100A13 (Two-hybrid), PLEKHF2 (Two-hybrid), S100A13 (Affinity Capture-MS), S100A13 (Affinity Capture-MS), S100A13 (Affinity Capture-MS), S100A13 (Affinity Capture-MS), S100A13 (Affinity Capture-MS), S100A13 (Affinity Capture-MS), S100A13 (Biochemical Activity), S100A13 (Affinity Capture-Western), S100A13 (Two-hybrid), S100A14 (Two-hybrid), SYT1 (Co-purification), FGF1 (Co-purification), S100A13 (Proximity Label-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
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| PBRM1 | “up-regulates quantity by expression” | S100A13 | “transcriptional regulation” |
Disease & clinical
Clinical variants and AI predictions
ClinVar
28 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 16 |
| Likely benign | 2 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1121 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 1:153619034:ACATC:A | acceptor_gain | 1.0000 |
| 1:153619035:CATC:C | acceptor_gain | 1.0000 |
| 1:153619035:CATCC:C | acceptor_gain | 1.0000 |
| 1:153619036:ATC:A | acceptor_gain | 1.0000 |
| 1:153619037:TC:T | acceptor_gain | 1.0000 |
| 1:153619038:CC:C | acceptor_gain | 1.0000 |
| 1:153619039:C:CC | acceptor_gain | 1.0000 |
| 1:153619039:CTGA:C | acceptor_loss | 1.0000 |
| 1:153619040:T:C | acceptor_loss | 1.0000 |
| 1:153619051:C:CT | acceptor_gain | 1.0000 |
| 1:153626316:CTAC:C | donor_loss | 1.0000 |
| 1:153626318:A:C | donor_loss | 1.0000 |
| 1:153626319:CCTT:C | donor_loss | 1.0000 |
| 1:153626529:CTGAC:C | acceptor_gain | 1.0000 |
| 1:153626535:T:G | acceptor_loss | 1.0000 |
| 1:153628497:G:GG | donor_gain | 1.0000 |
| 1:153630659:GGAT:G | donor_gain | 1.0000 |
| 1:153630660:G:GT | donor_gain | 1.0000 |
| 1:153630660:GAT:G | donor_gain | 1.0000 |
| 1:153630663:G:GG | donor_gain | 1.0000 |
| 1:153619039:C:T | acceptor_gain | 0.9900 |
| 1:153619048:C:CT | acceptor_gain | 0.9900 |
| 1:153619051:C:T | acceptor_gain | 0.9900 |
| 1:153619052:A:T | acceptor_gain | 0.9900 |
| 1:153626318:A:AC | donor_gain | 0.9900 |
| 1:153626319:C:CC | donor_gain | 0.9900 |
| 1:153626530:TGAC:T | acceptor_gain | 0.9900 |
| 1:153626531:GAC:G | acceptor_gain | 0.9900 |
| 1:153626533:CCTG:C | acceptor_gain | 0.9900 |
| 1:153626534:C:CC | acceptor_gain | 0.9900 |
AlphaMissense
0 scored. Top likely-pathogenic:
dbSNP variants (sampled 300 via entrez): RS1000143162 (1:153620784 G>A,T), RS1000212278 (1:153619295 G>A), RS1000284570 (1:153620411 A>C), RS1000918441 (1:153622332 C>T), RS1001120163 (1:153632245 A>G), RS1001272366 (1:153620862 T>C), RS1001530344 (1:153632397 G>A), RS1001587220 (1:153632503 C>T), RS1001829229 (1:153625659 C>T), RS1001903315 (1:153632676 C>G,T), RS1002184205 (1:153632941 G>A,C), RS1002210709 (1:153636317 G>A), RS1002257869 (1:153632654 G>A), RS1002348892 (1:153627471 C>G), RS1002516231 (1:153634101 C>T)
Disease associations
OMIM: gene MIM:601989 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
1 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST90002400_521 | Plateletcrit | 4.000000e-15 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007985 | platelet crit |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
58 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Benzo(a)pyrene | affects methylation, increases expression | 4 |
| sodium arsenite | decreases expression, increases expression | 3 |
| methylmercuric chloride | decreases expression | 2 |
| Air Pollutants | decreases expression, increases abundance | 2 |
| Copper | affects binding, affects cotreatment, affects folding, affects secretion | 2 |
| Doxorubicin | affects expression, increases expression | 2 |
| Rotenone | decreases expression, increases expression | 2 |
| Smoke | decreases expression, increases abundance | 2 |
| 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide | decreases expression, increases expression | 2 |
| Aflatoxin B1 | affects expression, increases methylation | 2 |
| Particulate Matter | decreases expression, increases abundance | 2 |
| aristolochic acid I | increases expression | 1 |
| FR900359 | increases phosphorylation | 1 |
| dicrotophos | decreases expression | 1 |
| bisphenol A | increases expression | 1 |
| pyrogallol 1,3-dimethyl ether | affects cotreatment, decreases expression, affects localization, increases expression | 1 |
| beta-lapachone | increases expression | 1 |
| perfluorooctanoic acid | increases expression | 1 |
| cuprous chloride | affects binding, affects cotreatment, affects folding | 1 |
| phenanthrene | decreases expression | 1 |
| lewisite | increases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| entinostat | increases expression | 1 |
| K 7174 | increases expression | 1 |
| fenpyroximate | increases expression | 1 |
| pyrimidifen | increases expression | 1 |
| nutlin 3 | affects cotreatment, increases secretion | 1 |
| Grape Seed Proanthocyanidins | affects cotreatment, decreases expression | 1 |
| bisphenol AF | increases expression | 1 |
| Decitabine | affects expression | 1 |
Cellosaurus cell lines
1 cell lines: 1 transformed cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_B3GF | Abcam HEK293T S100A13 KO | Transformed 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.