THRSP
gene geneOn this page
Also known as SPOT14LpgpS14THRP
Summary
THRSP (thyroid hormone responsive, HGNC:11800) is a protein-coding gene on chromosome 11q14.1, encoding Thyroid hormone-inducible hepatic protein (Q92748). Plays a role in the regulation of lipogenesis, especially in lactating mammary gland.
The protein encoded by this gene is similar to the gene product of S14, a rat gene whose expression is limited to liver and adipose tissue and is controlled by nutritional and hormonal factors. This gene has been shown to be expressed in liver and adipocytes, particularly in lipomatous modules. It is also found to be expressed in lipogenic breast cancers, which suggests a role in controlling tumor lipid metabolism.
Source: NCBI Gene 7069 — RefSeq curated summary.
At a glance
- GWAS associations: 2
- MANE Select transcript:
NM_003251
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:11800 |
| Approved symbol | THRSP |
| Name | thyroid hormone responsive |
| Location | 11q14.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | SPOT14, Lpgp, S14, THRP |
| Ensembl gene | ENSG00000151365 |
| Ensembl biotype | protein_coding |
| OMIM | 601926 |
| Entrez | 7069 |
Gene structure
Transcript identifiers
Ensembl transcripts: 2 — 2 protein_coding
ENST00000281030, ENST00000881052
RefSeq mRNA: 1 — MANE Select: NM_003251
NM_003251
CCDS: CCDS8256
Canonical transcript exons
ENST00000281030 — 2 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000999180 | 78063861 | 78064341 |
| ENSE00001286299 | 78067659 | 78068351 |
Expression profiles
Bgee: expression breadth ubiquitous, 171 present calls, max score 99.34.
FANTOM5 (CAGE): breadth tissue_specific, TPM avg 37.2391 / max 9217.3433, expressed in 134 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 116003 | 37.0256 | 131 |
| 116001 | 0.1396 | 35 |
| 116002 | 0.0739 | 23 |
Top tissues by expression
248 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| upper leg skin | UBERON:0004262 | 99.34 | gold quality |
| upper arm skin | UBERON:0004263 | 98.17 | gold quality |
| vena cava | UBERON:0004087 | 96.08 | gold quality |
| mammalian vulva | UBERON:0000997 | 95.76 | gold quality |
| right lobe of liver | UBERON:0001114 | 94.39 | gold quality |
| liver | UBERON:0002107 | 93.98 | gold quality |
| subcutaneous adipose tissue | UBERON:0002190 | 93.05 | gold quality |
| adipose tissue | UBERON:0001013 | 92.72 | gold quality |
| skin of hip | UBERON:0001554 | 92.45 | gold quality |
| thoracic mammary gland | UBERON:0005200 | 91.39 | gold quality |
| mammary gland | UBERON:0001911 | 91.24 | gold quality |
| parotid gland | UBERON:0001831 | 89.62 | gold quality |
| synovial joint | UBERON:0002217 | 89.58 | gold quality |
| epithelium of mammary gland | UBERON:0003244 | 89.34 | gold quality |
| mammary duct | UBERON:0001765 | 89.32 | gold quality |
| pericardium | UBERON:0002407 | 89.10 | gold quality |
| adipose tissue of abdominal region | UBERON:0007808 | 87.82 | gold quality |
| omental fat pad | UBERON:0010414 | 87.17 | gold quality |
| peritoneum | UBERON:0002358 | 87.11 | gold quality |
| nipple | UBERON:0002030 | 86.73 | gold quality |
| cardiac muscle of right atrium | UBERON:0003379 | 86.45 | gold quality |
| myocardium | UBERON:0002349 | 83.79 | silver quality |
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 83.61 | gold quality |
| oocyte | CL:0000023 | 82.00 | gold quality |
| quadriceps femoris | UBERON:0001377 | 80.97 | silver quality |
| deltoid | UBERON:0001476 | 80.84 | silver quality |
| layer of synovial tissue | UBERON:0007616 | 80.66 | gold quality |
| vastus lateralis | UBERON:0001379 | 80.54 | silver quality |
| left ventricle myocardium | UBERON:0006566 | 80.50 | silver quality |
| hindlimb stylopod muscle | UBERON:0004252 | 79.35 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): NR1H4, NR1I2, NR1I3, SREBF1, SREBF2, THRA, THRB, USF2
miRNA regulators (miRDB)
50 targeting THRSP, 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-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-4500 | 99.99 | 72.72 | 2367 |
| HSA-MIR-6870-5P | 99.99 | 68.55 | 2115 |
| HSA-LET-7A-5P | 99.98 | 72.29 | 1790 |
| HSA-LET-7B-5P | 99.98 | 72.31 | 1790 |
| HSA-LET-7C-5P | 99.98 | 72.29 | 1790 |
| HSA-LET-7E-5P | 99.98 | 72.29 | 1790 |
| HSA-LET-7F-5P | 99.98 | 72.56 | 1784 |
| HSA-LET-7G-5P | 99.98 | 72.37 | 1784 |
| HSA-LET-7I-5P | 99.98 | 72.37 | 1788 |
| HSA-MIR-98-5P | 99.98 | 72.33 | 1787 |
| HSA-MIR-4723-5P | 99.97 | 68.70 | 2034 |
| HSA-MIR-5698 | 99.97 | 68.49 | 2029 |
| HSA-MIR-7111-5P | 99.97 | 68.48 | 2062 |
| HSA-LET-7D-5P | 99.96 | 71.76 | 1632 |
| HSA-MIR-4458 | 99.96 | 71.64 | 1650 |
| HSA-MIR-3140-3P | 99.88 | 68.47 | 2069 |
| HSA-MIR-544A | 99.84 | 68.66 | 1965 |
| HSA-MIR-202-3P | 99.84 | 71.41 | 1290 |
| HSA-MIR-6763-5P | 99.76 | 64.68 | 1767 |
| HSA-MIR-3934-3P | 99.76 | 65.51 | 1351 |
| HSA-MIR-3150A-3P | 99.76 | 64.44 | 1640 |
| HSA-MIR-3175 | 99.65 | 66.30 | 2031 |
| HSA-MIR-1290 | 99.59 | 69.90 | 2079 |
| HSA-MIR-5004-3P | 99.54 | 68.27 | 1371 |
| HSA-MIR-6740-3P | 99.48 | 68.49 | 1392 |
| HSA-MIR-4316 | 99.37 | 65.75 | 1360 |
| HSA-MIR-3064-5P | 99.26 | 66.13 | 1497 |
| HSA-MIR-3085-3P | 99.26 | 66.16 | 1490 |
| HSA-MIR-6504-5P | 99.26 | 65.95 | 1487 |
Literature-anchored findings (GeneRIF, showing 9)
- significantly greater thyroid hormone response for the human promoter, compared with the rat. (PMID:12960053)
- These findings provide a molecular rationale for the role of hS14 in TR-dependent transcriptional activation of the expression of specific genes. (PMID:17418816)
- human Spot 14 protein might regulate the p53 target gene, p21(WAF1/Cip1), via its direct interaction with the thyroid receptor or other p53 coactivators, such as Zac1. (PMID:18299245)
- N-terminally truncated human Thrsp and its selenomethionyl derivative were collected to 4.0, 3.0 and 3.6 A resolution (PMID:21821901)
- In human breast cancer cell lines, S14 expression was highest in those representing the luminal subtype compared to those cell lines with basal characteristics. (PMID:25472762)
- The results of the present study indicated that Spot14/S14R were differently expressed in MSC adipogenesis in AIS patients, and they may be important in the abnormal adipogenic differentiation in AIS. (PMID:27082501)
- miR-451a might participate in the free fatty acid-induced hepatic steatosis by regulating the expression of the THRSP gene. (PMID:29604329)
- THRSP identified as a potential hepatocellular carcinoma marker by integrated bioinformatics analysis and experimental validation. (PMID:35196258)
- Insulin-inducible THRSP maintains mitochondrial function and regulates sphingolipid metabolism in human adipocytes. (PMID:35715726)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| ENSDARG00000099399 | ||
| mus_musculus | Thrsp | ENSMUSG00000035686 |
| rattus_norvegicus | Thrsp | ENSRNOG00000012404 |
| drosophila_melanogaster | CG2765 | FBGN0035087 |
Paralogs (1): MID1IP1 (ENSG00000165175)
Protein
Protein identifiers
Thyroid hormone-inducible hepatic protein — Q92748 (reviewed: Q92748)
Alternative names: Spot 14 protein
All UniProt accessions (1): Q92748
UniProt curated annotations — full annotation on UniProt →
Function. Plays a role in the regulation of lipogenesis, especially in lactating mammary gland. Important for the biosynthesis of triglycerides with medium-length fatty acid chains. May modulate lipogenesis by interacting with MID1IP1 and preventing its interaction with ACACA. May function as transcriptional coactivator. May modulate the transcription factor activity of THRB.
Subunit / interactions. Homodimer. Heterodimer with MID1IP1. Interacts with THRB and PLAGL1.
Subcellular location. Nucleus. Cytoplasm.
Tissue specificity. Mainly expressed in tissues that synthesize triglycerides.
Similarity. Belongs to the SPOT14 family.
RefSeq proteins (1): NP_003242* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR009786 | Spot_14 | Family |
| IPR053719 | Lipogen_MT_Stabilize_sf | Homologous_superfamily |
Pfam: PF07084
UniProt features (3 total): chain 1, region of interest 1, compositionally biased region 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q92748-F1 | 75.64 | 0.38 |
Function
Pathways and Gene Ontology
Reactome pathways
10 pathways
| ID | Pathway |
|---|---|
| R-HSA-200425 | Carnitine shuttle |
| R-HSA-9841922 | MLL4 and MLL3 complexes regulate expression of PPARG target genes in adipogenesis and hepatic steatosis |
| R-HSA-1430728 | Metabolism |
| R-HSA-212165 | Epigenetic regulation of gene expression |
| R-HSA-556833 | Metabolism of lipids |
| R-HSA-74160 | Gene expression (Transcription) |
| R-HSA-8978868 | Fatty acid metabolism |
| R-HSA-9818564 | Epigenetic regulation of gene expression by MLL3 and MLL4 complexes |
| R-HSA-9851695 | Epigenetic regulation of adipogenesis genes by MLL3 and MLL4 complexes |
| R-HSA-9917777 | Epigenetic regulation by WDR5-containing histone modifying complexes |
MSigDB gene sets: 98 (showing top):
GOBP_REGULATION_OF_TRIGLYCERIDE_METABOLIC_PROCESS, YAO_HOXA10_TARGETS_VIA_PROGESTERONE_UP, GRAESSMANN_APOPTOSIS_BY_SERUM_DEPRIVATION_DN, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GOBP_GLYCEROLIPID_METABOLIC_PROCESS, GOBP_REGULATION_OF_LIPID_BIOSYNTHETIC_PROCESS, MARTINEZ_RB1_TARGETS_UP, GOBP_REGULATION_OF_LIPID_METABOLIC_PROCESS, ACEVEDO_LIVER_TUMOR_VS_NORMAL_ADJACENT_TISSUE_DN, GOBP_GLYCEROLIPID_BIOSYNTHETIC_PROCESS, GOBP_NEUTRAL_LIPID_BIOSYNTHETIC_PROCESS, GOBP_LIPID_METABOLIC_PROCESS, GOBP_NEUTRAL_LIPID_METABOLIC_PROCESS, NADLER_OBESITY_DN, GOBP_LIPID_BIOSYNTHETIC_PROCESS
GO Biological Process (4): lipid metabolic process (GO:0006629), response to bacterium (GO:0009617), regulation of triglyceride biosynthetic process (GO:0010866), regulation of lipid biosynthetic process (GO:0046890)
GO Molecular Function (4): identical protein binding (GO:0042802), protein homodimerization activity (GO:0042803), molecular function inhibitor activity (GO:0140678), protein binding (GO:0005515)
GO Cellular Component (4): nucleoplasm (GO:0005654), cytosol (GO:0005829), nucleus (GO:0005634), cytoplasm (GO:0005737)
Reactome top-level categories
Rollup of top-8 pathways:
| Category | Pathways |
|---|---|
| Fatty acid metabolism | 1 |
| Epigenetic regulation of adipogenesis genes by MLL3 and MLL4 complexes | 1 |
| Gene expression (Transcription) | 1 |
| Metabolism | 1 |
| Metabolism of lipids | 1 |
| Epigenetic regulation by WDR5-containing histone modifying complexes | 1 |
| Epigenetic regulation of gene expression by MLL3 and MLL4 complexes | 1 |
| Epigenetic regulation of gene expression | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| primary metabolic process | 1 |
| response to other organism | 1 |
| triglyceride biosynthetic process | 1 |
| regulation of lipid biosynthetic process | 1 |
| regulation of triglyceride metabolic process | 1 |
| lipid biosynthetic process | 1 |
| regulation of biosynthetic process | 1 |
| regulation of lipid metabolic process | 1 |
| protein binding | 1 |
| identical protein binding | 1 |
| protein dimerization activity | 1 |
| molecular function regulator activity | 1 |
| binding | 1 |
| nuclear lumen | 1 |
| cytoplasm | 1 |
| intracellular membrane-bounded organelle | 1 |
| intracellular anatomical structure | 1 |
Protein interactions and networks
STRING
1088 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| THRSP | ELOVL6 | Q9H5J4 | 744 |
| THRSP | FASN | P49327 | 685 |
| THRSP | ACACA | Q13085 | 678 |
| THRSP | ACLY | P53396 | 677 |
| THRSP | INSR | P06213 | 614 |
| THRSP | ACACB | O00763 | 589 |
| THRSP | SOCS3 | O14543 | 567 |
| THRSP | CIDEC | Q96AQ7 | 559 |
| THRSP | DHCR7 | Q9UBM7 | 555 |
| THRSP | SREBF1 | P36956 | 552 |
| THRSP | DGAT2 | Q96PD7 | 547 |
| THRSP | PLIN1 | O60240 | 540 |
| THRSP | BAMBI | Q13145 | 536 |
| THRSP | PNPLA3 | Q9NST1 | 534 |
| THRSP | NR1H4 | Q96RI1 | 534 |
IntAct
45 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| THRSP | THRSP | psi-mi:“MI:0915”(physical association) | 0.670 |
| THRSP | TUM1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| THRSP | ZMYND12 | psi-mi:“MI:0915”(physical association) | 0.560 |
| INCA1 | THRSP | psi-mi:“MI:0915”(physical association) | 0.560 |
| THRSP | TEPSIN | psi-mi:“MI:0915”(physical association) | 0.560 |
| Plagl1 | THRSP | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| THRSP | AKT1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| THRSP | AURKA | psi-mi:“MI:0915”(physical association) | 0.370 |
| THRSP | BAG4 | psi-mi:“MI:0915”(physical association) | 0.370 |
| BCAR3 | THRSP | psi-mi:“MI:0915”(physical association) | 0.370 |
| BRMS1 | THRSP | psi-mi:“MI:0915”(physical association) | 0.370 |
| CDH1 | THRSP | psi-mi:“MI:0915”(physical association) | 0.370 |
| THRSP | ERBB2 | psi-mi:“MI:0915”(physical association) | 0.370 |
| FGFR4 | THRSP | psi-mi:“MI:0915”(physical association) | 0.370 |
| THRSP | HMMR | psi-mi:“MI:0915”(physical association) | 0.370 |
| IGF1R | THRSP | psi-mi:“MI:0915”(physical association) | 0.370 |
| KRAS | THRSP | psi-mi:“MI:0915”(physical association) | 0.370 |
| THRSP | LSP1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| PALB2 | THRSP | psi-mi:“MI:0915”(physical association) | 0.370 |
| THRSP | PARP1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| THRSP | PIK3CA | psi-mi:“MI:0915”(physical association) | 0.370 |
| THRSP | PTPN1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| RB1CC1 | THRSP | psi-mi:“MI:0915”(physical association) | 0.370 |
| SMAD4 | THRSP | psi-mi:“MI:0915”(physical association) | 0.370 |
| THRSP | STK11 | psi-mi:“MI:0915”(physical association) | 0.370 |
| THRSP | TGFB1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| THRSP | TSG101 | psi-mi:“MI:0915”(physical association) | 0.370 |
BioGRID (67): THRSP (Two-hybrid), THRSP (Two-hybrid), THRSP (Two-hybrid), THRSP (Two-hybrid), THRSP (Two-hybrid), THRSP (Two-hybrid), THRSP (Two-hybrid), THRSP (Two-hybrid), THRSP (Two-hybrid), THRSP (Two-hybrid), THRSP (Two-hybrid), THRSP (Two-hybrid), THRSP (Two-hybrid), THRSP (Two-hybrid), THRSP (Two-hybrid)
ESM2 similar proteins: A1L1K1, A2AVJ5, A2BID5, A2CI97, A2RV06, A7YY97, B1A193, F1QN74, P04143, P47805, Q0KK59, Q0VDN7, Q1LUV9, Q2NL11, Q2TAA8, Q3SYZ9, Q561Q8, Q561X3, Q5BLE2, Q5E9R0, Q5EB20, Q5FWU8, Q5M8Y7, Q5PNP6, Q5PQS3, Q5XG48, Q62264, Q6AXZ5, Q6GR21, Q6MZQ0, Q6NRB7, Q6P047, Q6P7D5, Q6TNU3, Q80ZQ3, Q8AWD1, Q8BFT2, Q8CDT7, Q92748, Q96C34
Diamond homologs: P04143, P47805, Q1LUV9, Q62264, Q6P7D5, Q8AWD1, Q92748, Q9CQ20, Q9NPA3
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| THRSP | “down-regulates activity” | MID1IP1 | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 34 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| insulin receptor signaling pathway | 5 | 37.0× | 7e-05 |
| phosphatidylinositol 3-kinase/protein kinase B signal transduction | 5 | 35.1× | 7e-05 |
| protein autophosphorylation | 5 | 24.2× | 2e-04 |
| negative regulation of cell population proliferation | 9 | 12.6× | 2e-05 |
| negative regulation of apoptotic process | 7 | 8.1× | 1e-03 |
| positive regulation of gene expression | 6 | 7.8× | 4e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
0 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 0 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
260 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 11:78064278:G:GT | donor_gain | 1.0000 |
| 11:78064289:G:GT | donor_gain | 1.0000 |
| 11:78064290:A:T | donor_gain | 1.0000 |
| 11:78064299:G:GT | donor_gain | 1.0000 |
| 11:78064300:A:T | donor_gain | 1.0000 |
| 11:78064315:T:G | donor_gain | 1.0000 |
| 11:78064170:G:GT | donor_gain | 0.9900 |
| 11:78064209:G:GT | donor_gain | 0.9900 |
| 11:78064338:G:GT | donor_gain | 0.9900 |
| 11:78064338:G:T | donor_gain | 0.9900 |
| 11:78064339:A:T | donor_gain | 0.9900 |
| 11:78064320:T:TA | donor_gain | 0.9800 |
| 11:78064321:A:AA | donor_gain | 0.9800 |
| 11:78067653:CCACA:C | acceptor_loss | 0.9800 |
| 11:78067654:CACAG:C | acceptor_loss | 0.9800 |
| 11:78067656:CA:C | acceptor_loss | 0.9800 |
| 11:78067657:A:AG | acceptor_gain | 0.9800 |
| 11:78067657:A:AT | acceptor_loss | 0.9800 |
| 11:78067658:G:GG | acceptor_gain | 0.9800 |
| 11:78064196:A:T | donor_gain | 0.9700 |
| 11:78064338:GAAGG:G | donor_loss | 0.9700 |
| 11:78064339:AAG:A | donor_loss | 0.9700 |
| 11:78064341:GG:G | donor_loss | 0.9700 |
| 11:78064342:G:T | donor_loss | 0.9700 |
| 11:78067658:GATCC:G | acceptor_gain | 0.9600 |
| 11:78067658:GAT:G | acceptor_gain | 0.9500 |
| 11:78067658:GATC:G | acceptor_gain | 0.9400 |
| 11:78064005:C:G | donor_gain | 0.9300 |
| 11:78064314:G:GG | donor_gain | 0.9300 |
| 11:78067651:C:G | acceptor_gain | 0.9300 |
AlphaMissense
961 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 11:78064059:T:C | F60L | 0.959 |
| 11:78064061:C:A | F60L | 0.959 |
| 11:78064061:C:G | F60L | 0.959 |
| 11:78064293:T:G | Y138D | 0.936 |
| 11:78063984:A:C | S35R | 0.934 |
| 11:78063986:C:A | S35R | 0.934 |
| 11:78063986:C:G | S35R | 0.934 |
| 11:78064073:G:C | K64N | 0.931 |
| 11:78064073:G:T | K64N | 0.931 |
| 11:78063979:T:C | I33T | 0.929 |
| 11:78064294:A:C | Y138S | 0.922 |
| 11:78063962:G:A | M27I | 0.921 |
| 11:78063962:G:C | M27I | 0.921 |
| 11:78063962:G:T | M27I | 0.921 |
| 11:78064219:T:C | F113S | 0.919 |
| 11:78064293:T:C | Y138H | 0.909 |
| 11:78064272:G:C | A131P | 0.900 |
| 11:78064261:T:C | L127P | 0.894 |
| 11:78063977:G:A | M32I | 0.893 |
| 11:78063977:G:C | M32I | 0.893 |
| 11:78063977:G:T | M32I | 0.893 |
| 11:78064227:C:G | H116D | 0.891 |
| 11:78063939:T:G | Y20D | 0.883 |
| 11:78063991:T:A | L37Q | 0.881 |
| 11:78064230:T:C | F117L | 0.880 |
| 11:78064232:C:A | F117L | 0.880 |
| 11:78064232:C:G | F117L | 0.880 |
| 11:78064229:C:A | H116Q | 0.873 |
| 11:78064229:C:G | H116Q | 0.873 |
| 11:78064069:T:A | L63H | 0.865 |
dbSNP variants (sampled 300 via entrez): RS1000334591 (11:78067295 T>C), RS1000857110 (11:78067257 G>A), RS1001234581 (11:78068512 C>T), RS1001261060 (11:78062437 C>A), RS1001308127 (11:78068678 G>A), RS1001352879 (11:78062612 C>T), RS1001603933 (11:78068733 C>T), RS1002453443 (11:78063166 T>C), RS1002485908 (11:78063622 G>A), RS1002964312 (11:78063407 C>A), RS1003031239 (11:78064079 C>A,T), RS1003273209 (11:78065552 C>A,T), RS1003486333 (11:78064952 G>A), RS1005166007 (11:78063809 C>A), RS1005367023 (11:78064850 G>A,T)
Disease associations
OMIM: gene MIM:601926 | 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 |
|---|---|---|
| GCST002541_88 | Menarche (age at onset) | 2.000000e-12 |
| GCST007277_15 | Tourette syndrome | 5.000000e-06 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004703 | age at menarche |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
49 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Benzo(a)pyrene | decreases expression, increases expression, increases methylation | 5 |
| perfluorooctanoic acid | decreases expression, increases expression | 4 |
| Aflatoxin B1 | decreases methylation, affects expression, decreases expression | 4 |
| Acetaminophen | decreases expression | 3 |
| Tetrachlorodibenzodioxin | decreases expression | 3 |
| lasiocarpine | decreases expression | 2 |
| methyleugenol | decreases expression | 2 |
| bisphenol A | decreases expression, increases expression | 2 |
| perfluorooctane sulfonic acid | decreases expression | 2 |
| bisphenol S | increases expression | 2 |
| Methapyrilene | decreases expression, increases expression | 2 |
| N-Nitrosopyrrolidine | decreases expression | 2 |
| Nickel | decreases expression | 2 |
| Fenofibrate | decreases expression, increases reaction | 2 |
| Cyclosporine | decreases expression | 2 |
| bisphenol F | increases expression | 1 |
| propionaldehyde | decreases expression | 1 |
| pirinixic acid | increases expression | 1 |
| sodium arsenite | decreases expression | 1 |
| sulconazole | affects expression | 1 |
| fipronil | affects cotreatment, increases expression | 1 |
| clemizole | affects expression | 1 |
| perfluoro-n-nonanoic acid | decreases expression | 1 |
| bardoxolone methyl | decreases expression | 1 |
| 6-(4-chlorophenyl)imidazo(2,1-b)(1,3)thiazole-5-carbaldehyde O-(3,4-dichlorobenzyl)oxime | decreases expression | 1 |
| clothianidin | decreases expression | 1 |
| bisphenol B | increases expression | 1 |
| 2-(1H-indazol-4-yl)-6-(4-methanesulfonylpiperazin-1-ylmethyl)-4-morpholin-4-ylthieno(3,2-d)pyrimidine | increases expression, increases response to substance | 1 |
| bisphenol AF | increases expression | 1 |
| Clopidogrel | 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.