SOX15
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Also known as SOX27SOX26
Summary
SOX15 (SRY-box transcription factor 15, HGNC:11196) is a protein-coding gene on chromosome 17p13.1, encoding Transcription factor SOX-15 (O60248). Transcription factor that binds to DNA at the 5’-AACAATG-3’ consensus sequence.
This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins.
Source: NCBI Gene 6665 — RefSeq curated summary.
At a glance
- GWAS associations: 2
- Clinical variants (ClinVar): 36 total
- MANE Select transcript:
NM_006942
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:11196 |
| Approved symbol | SOX15 |
| Name | SRY-box transcription factor 15 |
| Location | 17p13.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | SOX27, SOX26 |
| Ensembl gene | ENSG00000129194 |
| Ensembl biotype | protein_coding |
| OMIM | 601297 |
| Entrez | 6665 |
Gene structure
Transcript identifiers
Ensembl transcripts: 3 — 3 protein_coding
ENST00000250055, ENST00000538513, ENST00000570788
RefSeq mRNA: 1 — MANE Select: NM_006942
NM_006942
CCDS: CCDS32549
Canonical transcript exons
ENST00000250055 — 2 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000887339 | 7589144 | 7590094 |
| ENSE00001319870 | 7588178 | 7588546 |
Expression profiles
Bgee: expression breadth ubiquitous, 229 present calls, max score 96.92.
FANTOM5 (CAGE): breadth broad, TPM avg 13.0827 / max 470.6203, expressed in 807 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 164262 | 6.8008 | 290 |
| 164260 | 6.0726 | 754 |
| 164259 | 0.2094 | 124 |
Top tissues by expression
286 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| lower esophagus mucosa | UBERON:0035834 | 96.92 | gold quality |
| oocyte | CL:0000023 | 95.61 | gold quality |
| esophagus mucosa | UBERON:0002469 | 94.77 | gold quality |
| secondary oocyte | CL:0000655 | 92.30 | gold quality |
| skin of abdomen | UBERON:0001416 | 90.56 | gold quality |
| skin of leg | UBERON:0001511 | 89.35 | gold quality |
| cervix squamous epithelium | UBERON:0006922 | 88.42 | silver quality |
| pharyngeal mucosa | UBERON:0000355 | 87.92 | gold quality |
| esophagus | UBERON:0001043 | 87.88 | gold quality |
| zone of skin | UBERON:0000014 | 87.79 | gold quality |
| vagina | UBERON:0000996 | 87.54 | gold quality |
| tongue squamous epithelium | UBERON:0006919 | 87.15 | silver quality |
| right hemisphere of cerebellum | UBERON:0014890 | 86.79 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 86.75 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 86.51 | gold quality |
| cerebellar cortex | UBERON:0002129 | 86.40 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 86.14 | gold quality |
| squamous epithelium | UBERON:0006914 | 85.98 | silver quality |
| epithelium of esophagus | UBERON:0001976 | 85.83 | silver quality |
| cerebellum | UBERON:0002037 | 85.65 | gold quality |
| Brodmann (1909) area 10 | UBERON:0013541 | 85.48 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 85.02 | silver quality |
| cingulate cortex | UBERON:0003027 | 84.90 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 84.88 | gold quality |
| gingiva | UBERON:0001828 | 84.75 | gold quality |
| gingival epithelium | UBERON:0001949 | 84.74 | silver quality |
| paraflocculus | UBERON:0005351 | 83.93 | gold quality |
| mammalian vulva | UBERON:0000997 | 83.70 | gold quality |
| right frontal lobe | UBERON:0002810 | 83.64 | gold quality |
| mucosa of stomach | UBERON:0001199 | 83.39 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-GEOD-86618 | no | 40.73 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: yes
Downstream targets (CollecTRI)
2 targets.
| Target | Regulation |
|---|---|
| FOXK1 | Unknown |
| HRC |
JASPAR motifs
| Motif | Name | Family |
|---|---|---|
| MA1152.1 | SOX15 | SOX-related factors |
| MA1152.2 | SOX15 | SOX-related factors |
JASPAR matrix evidence (PMIDs): PMID:15863505
miRNA regulators (miRDB)
27 targeting SOX15, 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-12118 | 100.00 | 65.88 | 1270 |
| HSA-MIR-3173-3P | 99.98 | 66.49 | 1217 |
| HSA-MIR-6891-5P | 99.98 | 66.53 | 1372 |
| HSA-MIR-548AR-3P | 99.85 | 71.26 | 3889 |
| HSA-MIR-369-3P | 99.85 | 70.52 | 2264 |
| HSA-MIR-1323 | 99.83 | 69.89 | 2471 |
| HSA-MIR-548AZ-3P | 99.82 | 70.56 | 3549 |
| HSA-MIR-548BC | 99.82 | 70.61 | 3524 |
| HSA-MIR-548E-3P | 99.82 | 70.59 | 3514 |
| HSA-MIR-548F-3P | 99.82 | 70.59 | 3540 |
| HSA-MIR-374C-5P | 99.80 | 72.06 | 2910 |
| HSA-MIR-655-3P | 99.80 | 72.19 | 2909 |
| HSA-MIR-1273H-5P | 99.77 | 66.32 | 2471 |
| HSA-MIR-548A-3P | 99.76 | 70.58 | 3524 |
| HSA-MIR-548O-3P | 99.74 | 69.30 | 2228 |
| HSA-MIR-8084 | 99.73 | 69.57 | 1760 |
| HSA-MIR-7106-5P | 99.53 | 67.47 | 3574 |
| HSA-MIR-548G-3P | 99.48 | 68.67 | 2159 |
| HSA-MIR-12113 | 99.32 | 67.54 | 1072 |
| HSA-MIR-3692-5P | 99.29 | 67.04 | 1421 |
| HSA-MIR-4539 | 98.78 | 67.18 | 888 |
| HSA-MIR-5008-5P | 98.42 | 65.87 | 1019 |
| HSA-MIR-2681-3P | 98.18 | 65.28 | 577 |
| HSA-MIR-4768-3P | 98.16 | 66.02 | 2330 |
| HSA-MIR-1287-5P | 96.80 | 65.30 | 743 |
| HSA-MIR-6839-5P | 96.74 | 68.29 | 1088 |
| HSA-MIR-378J | 96.44 | 66.20 | 1020 |
Literature-anchored findings (GeneRIF, showing 12)
- We established stable NT2/D1 cell lines overexpressing SOX15 (SOX15-NT2/D1), and a modified 3-(4,5-dime-thylthiazol-2-yl)-2,5-diphenyltetrazolium bromide (MTT) assay showed that the SOX15-NT2/D1 cells exhibited significantly slower growth than controls (PMID:18182846)
- The gain of function studies indicated that sex-determining region Y (SRY)-box 15 (SOX15) activate NR5A1 gene expression. (PMID:18579725)
- Results indicate that the expression of SOX15 in pancreatic cancer cell lines with undetectable expression resulted in reduced viability of cancer cells both in vitro and in vivo demonstrating its tumor suppressive capability. (PMID:23318427)
- Increased expression of epithelial OCT4, SOX15 and TWIST1 was detected in endometriotic tissue compared to endometriosis patient endometrium. Epithelial expression of OCT4, SOX15, and TWIST1 was increased in the endometrium of endometriosis patients compared to controls. (PMID:27881125)
- SOX15 can be a tumor suppressor in colorectal cancer by suppressing the Wnt-beta-catenin signaling pathway. (PMID:30019915)
- the current study revealed that inhibition of SOX15 in ESCC cells sensitizes the ESCC cells to paclitaxel, suggesting that the SOX15 expression level may predict the therapeutic outcomes for paclitaxel treatment for ESCC. (PMID:30950353)
- Downregulation of microR-147b represses the proliferation and invasion of thyroid carcinoma cells by inhibiting Wnt/beta-catenin signaling via targeting SOX15. (PMID:31760045)
- These data demonstrate that SOX15 functions as a potential tumor-suppressor in glioma by inhibiting cell proliferation and invasion via the downregulation of Wnt/beta-catenin signaling (PMID:32416168)
- Epigenetic Silencing of SOX15 Is Controlled by miRNAs rather than Methylation in Papillary Thyroid Cancer. (PMID:34603557)
- SOX15 transcriptionally increases the function of AOC1 to modulate ferroptosis and progression in prostate cancer. (PMID:35922412)
- [The Mechanism of miR-1294 Targeting SOX15 to Regulate Wnt/beta-catenin Signaling Pathway and Promote the Proliferation of Acute Lymphoblastic Leukemia Cells in Children]. (PMID:37096504)
- CircVPS8 promotes the malignant phenotype and inhibits ferroptosis of glioma stem cells by acting as a scaffold for MKRN1, SOX15 and HNF4A. (PMID:39098847)
Cross-species orthologs
12 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | sox19a | ENSDARG00000010770 |
| danio_rerio | sox19b | ENSDARG00000040266 |
| danio_rerio | sox32 | ENSDARG00000100591 |
| mus_musculus | Sox15 | ENSMUSG00000041287 |
| rattus_norvegicus | Sox15 | ENSRNOG00000012155 |
| drosophila_melanogaster | Sox14 | FBGN0005612 |
| drosophila_melanogaster | Sox15 | FBGN0005613 |
| drosophila_melanogaster | Sox100B | FBGN0024288 |
| drosophila_melanogaster | Sox21a | FBGN0036411 |
| drosophila_melanogaster | Sox102F | FBGN0039938 |
| caenorhabditis_elegans | WBGENE00001182 | |
| caenorhabditis_elegans | WBGENE00015716 |
Paralogs (20): SOX8 (ENSG00000005513), SOX30 (ENSG00000039600), SOX10 (ENSG00000100146), SOX6 (ENSG00000110693), SOX4 (ENSG00000124766), SOX21 (ENSG00000125285), SOX9 (ENSG00000125398), SOX5 (ENSG00000134532), SOX3 (ENSG00000134595), SOX13 (ENSG00000143842), SOX17 (ENSG00000164736), SOX14 (ENSG00000168875), SOX7 (ENSG00000171056), SOX11 (ENSG00000176887), SOX12 (ENSG00000177732), CFAP65 (ENSG00000181378), SOX2 (ENSG00000181449), SOX1 (ENSG00000182968), SRY (ENSG00000184895), SOX18 (ENSG00000203883)
Protein
Protein identifiers
Transcription factor SOX-15 — O60248 (reviewed: O60248)
Alternative names: Protein SOX-12, Protein SOX-20, SRY-box transcription factor 15
All UniProt accessions (1): O60248
UniProt curated annotations — full annotation on UniProt →
Function. Transcription factor that binds to DNA at the 5’-AACAATG-3’ consensus sequence. Acts as a transcriptional activator and repressor. Binds synergistically with POU5F1 (OCT3/4) to gene promoters. Binds to the FOXK1 promoter and recruits FHL3, resulting in transcriptional activation of FOXK1 which leads to myoblast proliferation. Acts as an inhibitor of myoblast differentiation via transcriptional repression which leads to down-regulation of the muscle-specific genes MYOD and MYOG. Involved in trophoblast giant cell differentiation via enhancement of HAND1 transcriptional activity. Regulates transcription of HRC via binding to it proximal enhancer region. Involved in skeletal muscle regeneration. Also plays a role in the development of myogenic precursor cells.
Subunit / interactions. Interacts with HAND1; the interaction enhances HAND1-induced differentiation of trophoblast giant cells. Interacts with POU5F1 (OCT3/4); binds synergistically with POU5F1 to DNA. Interacts with FHL3; the interaction recruits the transcriptional coactivator FHL3 to the FOXK1 promoter.
Subcellular location. Nucleus.
Tissue specificity. Widely expressed in fetal and adult tissues examined, highest level found in fetal spinal cord and adult brain and testis.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| O60248-1 | 1 | yes |
| O60248-2 | 2 |
RefSeq proteins (1): NP_008873* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR009071 | HMG_box_dom | Domain |
| IPR036910 | HMG_box_dom_sf | Homologous_superfamily |
| IPR050140 | SRY-related_HMG-box_TF-like | Family |
Pfam: PF00505
UniProt features (16 total): sequence conflict 5, region of interest 5, compositionally biased region 2, chain 1, DNA-binding region 1, splice variant 1, modified residue 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-O60248-F1 | 69.14 | 0.36 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Post-translational modifications (1): 37
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 163 (showing top):
GOBP_REGULATION_OF_CELL_ACTIVATION, FXR_IR1_Q6, GOBP_EMBRYO_DEVELOPMENT_ENDING_IN_BIRTH_OR_EGG_HATCHING, GOBP_MUSCLE_TISSUE_DEVELOPMENT, GOBP_SKELETAL_MUSCLE_TISSUE_REGENERATION, HNF3ALPHA_Q6, RORA1_01, JAEGER_METASTASIS_DN, GOBP_REGULATION_OF_DEVELOPMENTAL_GROWTH, GCANCTGNY_MYOD_Q6, DAZARD_UV_RESPONSE_CLUSTER_G4, NIKOLSKY_OVERCONNECTED_IN_BREAST_CANCER, GOBP_GROWTH, GOBP_REGENERATION, GOBP_NEUROGENESIS
GO Biological Process (16): negative regulation of transcription by RNA polymerase II (GO:0000122), chromatin organization (GO:0006325), regulation of DNA-templated transcription (GO:0006355), regulation of transcription by RNA polymerase II (GO:0006357), brain development (GO:0007420), male gonad development (GO:0008584), positive regulation of satellite cell activation involved in skeletal muscle regeneration (GO:0014718), cell differentiation (GO:0030154), neuron differentiation (GO:0030182), skeletal muscle tissue regeneration (GO:0043403), negative regulation of striated muscle tissue development (GO:0045843), positive regulation of transcription by RNA polymerase II (GO:0045944), myoblast development (GO:0048627), trophoblast giant cell differentiation (GO:0060707), positive regulation of G0 to G1 transition (GO:0070318), positive regulation of myoblast proliferation (GO:2000288)
GO Molecular Function (7): RNA polymerase II cis-regulatory region sequence-specific DNA binding (GO:0000978), DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981), DNA-binding transcription activator activity, RNA polymerase II-specific (GO:0001228), DNA binding (GO:0003677), chromatin binding (GO:0003682), DNA-binding transcription factor activity (GO:0003700), protein binding (GO:0005515)
GO Cellular Component (4): chromatin (GO:0000785), nucleus (GO:0005634), transcription regulator complex (GO:0005667), cytoplasm (GO:0005737)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| regulation of transcription by RNA polymerase II | 3 |
| transcription by RNA polymerase II | 3 |
| RNA polymerase II transcription regulatory region sequence-specific DNA binding | 3 |
| regulation of DNA-templated transcription | 2 |
| binding | 2 |
| cellular anatomical structure | 2 |
| negative regulation of DNA-templated transcription | 1 |
| cellular component organization | 1 |
| DNA-templated transcription | 1 |
| regulation of gene expression | 1 |
| regulation of RNA biosynthetic process | 1 |
| central nervous system development | 1 |
| animal organ development | 1 |
| head development | 1 |
| gonad development | 1 |
| development of primary male sexual characteristics | 1 |
| regulation of satellite cell activation involved in skeletal muscle regeneration | 1 |
| satellite cell activation involved in skeletal muscle regeneration | 1 |
| positive regulation of skeletal muscle tissue regeneration | 1 |
| positive regulation of cell activation | 1 |
| cellular developmental process | 1 |
| cell differentiation | 1 |
| generation of neurons | 1 |
| tissue regeneration | 1 |
| striated muscle tissue development | 1 |
| regulation of striated muscle tissue development | 1 |
| negative regulation of muscle organ development | 1 |
| negative regulation of muscle tissue development | 1 |
| positive regulation of DNA-templated transcription | 1 |
| myoblast differentiation | 1 |
| cell development | 1 |
| cell differentiation involved in embryonic placenta development | 1 |
| G0 to G1 transition | 1 |
| regulation of G0 to G1 transition | 1 |
| positive regulation of cell cycle process | 1 |
| positive regulation of cell population proliferation | 1 |
| myoblast proliferation | 1 |
| regulation of myoblast proliferation | 1 |
| cis-regulatory region sequence-specific DNA binding | 1 |
| chromatin | 1 |
Protein interactions and networks
STRING
0 interactions, top by confidence (×1000):
IntAct
28 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| BHLHE40 | SOX15 | psi-mi:“MI:0915”(physical association) | 0.560 |
| HSFY1 | SOX15 | psi-mi:“MI:0915”(physical association) | 0.560 |
| HOXB9 | SOX15 | psi-mi:“MI:0915”(physical association) | 0.520 |
| NFIA | SOX15 | psi-mi:“MI:0915”(physical association) | 0.470 |
| NFIB | SOX15 | psi-mi:“MI:0915”(physical association) | 0.470 |
| NFIC | SOX15 | psi-mi:“MI:0915”(physical association) | 0.400 |
| SOX15 | PPP3R1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| CFTR | SOX15 | psi-mi:“MI:0915”(physical association) | 0.370 |
| SOX15 | IGF2BP3 | psi-mi:“MI:0914”(association) | 0.350 |
| POLR3A | psi-mi:“MI:0914”(association) | 0.350 | |
| DDX3X | psi-mi:“MI:0914”(association) | 0.350 | |
| HNRNPDL | psi-mi:“MI:0914”(association) | 0.350 | |
| GTPBP10 | psi-mi:“MI:0914”(association) | 0.350 | |
| PES1 | psi-mi:“MI:0914”(association) | 0.350 | |
| IGF2BP3 | psi-mi:“MI:0914”(association) | 0.350 | |
| EIF3F | psi-mi:“MI:0914”(association) | 0.350 | |
| ESYT2 | psi-mi:“MI:0914”(association) | 0.350 | |
| SOX15 | SMCHD1 | psi-mi:“MI:2364”(proximity) | 0.270 |
BioGRID (154): BHLHE40 (Two-hybrid), HSFY1 (Two-hybrid), PPP3R1 (Affinity Capture-MS), HOXB9 (Proximity Label-MS), KDM6A (Proximity Label-MS), POU2F1 (Proximity Label-MS), FOXK1 (Proximity Label-MS), FOXP1 (Proximity Label-MS), TRPS1 (Proximity Label-MS), ZNF281 (Proximity Label-MS), SATB1 (Proximity Label-MS), SMCHD1 (Proximity Label-MS), BCL9 (Proximity Label-MS), NFIB (Proximity Label-MS), ARID1A (Proximity Label-MS)
ESM2 similar proteins: A1YF56, A2AEV7, A6NCS4, A7Y7W2, D3ZJK7, E1BEA8, F1MUS9, O15534, O35973, O43435, O43638, O60248, O75333, O77728, O94983, O95935, O95947, P22736, P46099, P51666, P56261, P57082, P70325, P70327, Q03484, Q0V8F0, Q15744, Q497V6, Q5DTT2, Q61660, Q61663, Q63HR2, Q64731, Q66JL1, Q6PZD9, Q6ZQN5, Q80Y50, Q810F8, Q861Q9, Q8AV66
Diamond homologs: A2TED3, A4QNG3, B0ZTE1, B0ZTE2, O00570, O42569, O57401, O60248, O95416, P36389, P36390, P36393, P36395, P36396, P41225, P43267, P47792, P48046, P48430, P48431, P48432, P48433, P51501, P53783, P53784, P54231, P55863, P61259, Q04892, Q05066, Q20201, Q21305, Q24533, Q28447, Q28778, Q28783, Q28798, Q2PG84, Q2Z1R2, Q32PP9
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
36 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 33 |
| Likely benign | 3 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
242 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 17:7589142:AC:A | donor_gain | 0.9900 |
| 17:7589143:CC:C | donor_gain | 0.9900 |
| 17:7589136:GCACT:G | donor_loss | 0.9800 |
| 17:7589137:CACTC:C | donor_loss | 0.9800 |
| 17:7589138:ACTC:A | donor_loss | 0.9800 |
| 17:7589139:CT:C | donor_loss | 0.9800 |
| 17:7589140:TCA:T | donor_loss | 0.9800 |
| 17:7589141:CACC:C | donor_loss | 0.9800 |
| 17:7589142:A:AC | donor_gain | 0.9800 |
| 17:7589143:C:CC | donor_gain | 0.9800 |
| 17:7589267:C:A | donor_gain | 0.9800 |
| 17:7589135:GGCAC:G | donor_loss | 0.9700 |
| 17:7588547:C:CC | acceptor_gain | 0.9500 |
| 17:7588740:G:A | donor_gain | 0.9300 |
| 17:7589149:G:C | donor_gain | 0.9300 |
| 17:7589194:AAAG:A | donor_gain | 0.9300 |
| 17:7589266:T:TA | donor_gain | 0.9300 |
| 17:7589187:TG:T | donor_gain | 0.9100 |
| 17:7588545:AGC:A | acceptor_loss | 0.9000 |
| 17:7588547:C:A | acceptor_loss | 0.9000 |
| 17:7588548:T:A | acceptor_loss | 0.9000 |
| 17:7588543:AGAG:A | acceptor_gain | 0.8800 |
| 17:7588549:G:C | acceptor_loss | 0.8800 |
| 17:7588656:AG:A | donor_gain | 0.8800 |
| 17:7588544:GAG:G | acceptor_gain | 0.8700 |
| 17:7589142:ACC:A | donor_gain | 0.8700 |
| 17:7589143:CCC:C | donor_gain | 0.8700 |
| 17:7588650:C:CT | donor_gain | 0.8300 |
| 17:7588651:T:TT | donor_gain | 0.8300 |
| 17:7588556:GAAA:G | acceptor_loss | 0.8100 |
AlphaMissense
1470 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 17:7589416:C:A | W87C | 1.000 |
| 17:7589416:C:G | W87C | 1.000 |
| 17:7589418:A:G | W87R | 1.000 |
| 17:7589418:A:T | W87R | 1.000 |
| 17:7589500:C:A | W59C | 1.000 |
| 17:7589500:C:G | W59C | 1.000 |
| 17:7589502:A:G | W59R | 1.000 |
| 17:7589502:A:T | W59R | 1.000 |
| 17:7589507:A:G | M57T | 1.000 |
| 17:7589509:G:C | F56L | 1.000 |
| 17:7589509:G:T | F56L | 1.000 |
| 17:7589510:A:C | F56C | 1.000 |
| 17:7589510:A:G | F56S | 1.000 |
| 17:7589511:A:G | F56L | 1.000 |
| 17:7589511:A:T | F56I | 1.000 |
| 17:7589515:G:C | N54K | 1.000 |
| 17:7589515:G:T | N54K | 1.000 |
| 17:7589324:T:C | Y118C | 0.999 |
| 17:7589325:A:G | Y118H | 0.999 |
| 17:7589352:G:C | H109D | 0.999 |
| 17:7589363:A:G | L105P | 0.999 |
| 17:7589373:C:G | A102P | 0.999 |
| 17:7589383:G:C | F98L | 0.999 |
| 17:7589383:G:T | F98L | 0.999 |
| 17:7589385:A:G | F98L | 0.999 |
| 17:7589392:C:A | K95N | 0.999 |
| 17:7589392:C:G | K95N | 0.999 |
| 17:7589417:C:G | W87S | 0.999 |
| 17:7589429:A:G | L83P | 0.999 |
| 17:7589432:C:G | R82P | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000051307 (17:7589842 G>T), RS1000166807 (17:7589572 A>G), RS1000424656 (17:7587890 G>C), RS1001623371 (17:7590929 G>T), RS1002170983 (17:7591391 C>T), RS1002285461 (17:7591116 TGAAGA>T), RS1003060823 (17:7587952 G>A), RS1003317176 (17:7589905 G>A,T), RS1003629912 (17:7590162 C>A), RS1004007403 (17:7591456 TGGGAGGAGGGATAGCAG>T), RS1004065561 (17:7589212 G>A), RS1006180153 (17:7591522 C>A,G,T), RS1006358467 (17:7590261 C>G), RS1007068987 (17:7590460 G>T), RS1007860701 (17:7588708 G>A,C)
Disease associations
OMIM: gene MIM:601297 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
2 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST006414_33 | Atrial fibrillation | 2.000000e-09 |
| GCST010703_158 | Brain morphology (MOSTest) | 3.000000e-09 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004346 | neuroimaging measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
31 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Decitabine | decreases expression, decreases reaction, decreases methylation, increases expression | 2 |
| Benzo(a)pyrene | affects methylation, decreases expression, decreases methylation | 2 |
| Smoke | decreases expression, decreases reaction | 2 |
| Valproic Acid | decreases expression, increases methylation | 2 |
| Particulate Matter | decreases expression, increases abundance, affects cotreatment, increases expression | 2 |
| aristolochic acid I | increases expression | 1 |
| beta-lapachone | decreases expression | 1 |
| methylparaben | increases expression | 1 |
| sulforaphane | decreases expression | 1 |
| sodium arsenite | decreases expression | 1 |
| butylparaben | increases expression | 1 |
| isobutyl alcohol | affects cotreatment, increases abundance, increases expression | 1 |
| JP8 aviation fuel | increases expression | 1 |
| chloropicrin | decreases expression | 1 |
| abrine | increases expression | 1 |
| 2,2’,4,4’-tetrabromodiphenyl ether | decreases expression | 1 |
| theaflavin-3,3’-digallate | affects expression | 1 |
| Resveratrol | affects cotreatment, decreases expression | 1 |
| Temozolomide | decreases expression | 1 |
| Acetaminophen | increases expression | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
| Ethanol | affects cotreatment, increases abundance, increases expression | 1 |
| Carbamazepine | affects expression | 1 |
| Diethylhexyl Phthalate | increases expression | 1 |
| Gasoline | affects cotreatment, increases abundance, increases expression | 1 |
| Plant Extracts | affects cotreatment, decreases expression | 1 |
| Polycyclic Aromatic Hydrocarbons | increases expression, affects cotreatment, increases abundance | 1 |
| Silver | increases expression | 1 |
| Tobacco Smoke Pollution | increases expression | 1 |
| Cadmium Chloride | decreases expression | 1 |
Cellosaurus cell lines
3 cell lines: 3 embryonic stem cell
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_A6M0 | SEES3-1V human SOX15, clone1 | Embryonic stem cell | Male |
| CVCL_A6M1 | SEES3-1V human SOX15, clone2 | Embryonic stem cell | Male |
| CVCL_A6M2 | SEES3-1V human SOX15, clone3 | Embryonic stem cell | Male |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): atrial fibrillation