TSKU
geneOn this page
Also known as E2IG4TSK
Summary
TSKU (tsukushi, small leucine rich proteoglycan, HGNC:28850) is a protein-coding gene on chromosome 11q13.5, encoding Tsukushi (Q8WUA8). Contributes to various developmental events and other processes such as wound healing and cholesterol homeostasis through its interactions with multiple signaling pathways.
Predicted to enable transforming growth factor beta binding activity. Predicted to be involved in several processes, including cholesterol efflux; cholesterol homeostasis; and nervous system development. Predicted to act upstream of or within several processes, including ciliary body morphogenesis; negative regulation of Wnt signaling pathway; and telencephalon development. Predicted to be located in extracellular region. Predicted to be active in extracellular space.
Source: NCBI Gene 25987 — RefSeq curated summary.
At a glance
- GWAS associations: 6
- Clinical variants (ClinVar): 66 total
- MANE Select transcript:
NM_015516
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:28850 |
| Approved symbol | TSKU |
| Name | tsukushi, small leucine rich proteoglycan |
| Location | 11q13.5 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | E2IG4, TSK |
| Ensembl gene | ENSG00000182704 |
| Ensembl biotype | protein_coding |
| OMIM | 608015 |
| Entrez | 25987 |
Gene structure
Transcript identifiers
Ensembl transcripts: 16 — 16 protein_coding
ENST00000333090, ENST00000525167, ENST00000527881, ENST00000533752, ENST00000612930, ENST00000870292, ENST00000870293, ENST00000870294, ENST00000870295, ENST00000870296, ENST00000870297, ENST00000870298, ENST00000870299, ENST00000870300, ENST00000956905, ENST00000956906
RefSeq mRNA: 5 — MANE Select: NM_015516
NM_001258210, NM_001318477, NM_001318478, NM_001318479, NM_015516
CCDS: CCDS8246
Canonical transcript exons
ENST00000333090 — 2 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001304798 | 76783356 | 76783404 |
| ENSE00002201219 | 76795609 | 76798144 |
Expression profiles
Bgee: expression breadth ubiquitous, 242 present calls, max score 98.50.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 16.4636 / max 314.7449, expressed in 1588 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 115962 | 9.1746 | 1552 |
| 115963 | 7.0457 | 1254 |
| 206392 | 0.1455 | 46 |
| 115959 | 0.0977 | 48 |
Top tissues by expression
272 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| decidua | UBERON:0002450 | 98.50 | gold quality |
| endocervix | UBERON:0000458 | 97.89 | gold quality |
| ectocervix | UBERON:0012249 | 97.56 | gold quality |
| left uterine tube | UBERON:0001303 | 95.72 | gold quality |
| mucosa of stomach | UBERON:0001199 | 95.50 | gold quality |
| right lobe of liver | UBERON:0001114 | 95.20 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 94.78 | gold quality |
| subcutaneous adipose tissue | UBERON:0002190 | 94.63 | gold quality |
| vagina | UBERON:0000996 | 94.21 | gold quality |
| skin of abdomen | UBERON:0001416 | 94.00 | gold quality |
| tibial nerve | UBERON:0001323 | 93.73 | gold quality |
| skin of leg | UBERON:0001511 | 93.48 | gold quality |
| vena cava | UBERON:0004087 | 93.40 | gold quality |
| mammalian vulva | UBERON:0000997 | 93.32 | gold quality |
| liver | UBERON:0002107 | 93.30 | gold quality |
| esophagus mucosa | UBERON:0002469 | 93.23 | gold quality |
| omental fat pad | UBERON:0010414 | 92.96 | gold quality |
| peritoneum | UBERON:0002358 | 92.94 | gold quality |
| adipose tissue of abdominal region | UBERON:0007808 | 92.87 | gold quality |
| adipose tissue | UBERON:0001013 | 92.84 | gold quality |
| zone of skin | UBERON:0000014 | 92.42 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 92.28 | gold quality |
| right ovary | UBERON:0002118 | 92.07 | gold quality |
| connective tissue | UBERON:0002384 | 91.88 | gold quality |
| uterine cervix | UBERON:0000002 | 91.56 | gold quality |
| left coronary artery | UBERON:0001626 | 91.51 | gold quality |
| coronary artery | UBERON:0001621 | 91.28 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 91.26 | gold quality |
| synovial joint | UBERON:0002217 | 90.97 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 90.95 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-CURD-10 | no | 110.07 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
90 targeting TSKU, 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-4747-5P | 100.00 | 67.90 | 2681 |
| HSA-MIR-5196-5P | 100.00 | 67.98 | 2761 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-6870-5P | 99.99 | 68.55 | 2115 |
| HSA-MIR-520G-5P | 99.99 | 66.76 | 658 |
| HSA-MIR-520D-5P | 99.98 | 73.34 | 4883 |
| HSA-MIR-524-5P | 99.98 | 73.43 | 4882 |
| HSA-MIR-6780B-5P | 99.96 | 69.60 | 2562 |
| HSA-MIR-4725-3P | 99.96 | 69.53 | 2520 |
| HSA-MIR-2110 | 99.96 | 66.68 | 1930 |
| HSA-MIR-6825-5P | 99.96 | 69.81 | 3431 |
| HSA-MIR-96-5P | 99.95 | 72.80 | 2140 |
| HSA-MIR-5010-5P | 99.94 | 64.11 | 705 |
| HSA-MIR-4525 | 99.94 | 64.38 | 675 |
| HSA-MIR-12133 | 99.92 | 71.82 | 2006 |
| HSA-MIR-1271-5P | 99.91 | 71.99 | 1972 |
| HSA-MIR-106A-5P | 99.90 | 73.94 | 2683 |
| HSA-MIR-124-3P | 99.89 | 73.74 | 3043 |
| HSA-MIR-506-3P | 99.89 | 73.55 | 3057 |
| HSA-MIR-6783-3P | 99.89 | 67.92 | 2059 |
| HSA-MIR-1343-3P | 99.89 | 66.78 | 1815 |
| HSA-MIR-17-5P | 99.89 | 73.83 | 2665 |
| HSA-MIR-4271 | 99.88 | 68.32 | 2244 |
| HSA-MIR-605-3P | 99.88 | 69.22 | 1833 |
| HSA-MIR-6780A-5P | 99.88 | 66.69 | 2776 |
| HSA-MIR-106B-5P | 99.88 | 74.72 | 2795 |
| HSA-MIR-20A-5P | 99.88 | 74.76 | 2769 |
| HSA-MIR-20B-5P | 99.88 | 74.01 | 2621 |
| HSA-MIR-519D-3P | 99.88 | 73.97 | 2607 |
Literature-anchored findings (GeneRIF, showing 9)
- The spatio-temporal expression of Decorin, Semaphorin6D, SPARC, Spry-1 and Tsukushi in developing prostate is described and observed similar mesenchymal expression patterns in rat and human. (PMID:22880013)
- TSK controls the hair cycle by regulating TGF-beta1 signaling. (PMID:22995554)
- Among its predicted target genes down-regulated by miR-2110, knockdown of Tsukushi (TSKU) expression showed the most potent effect in inducing cell differentiation and reducing cell survival, suggesting that TSKU protein plays a key role in mediating the functions of miR-2110. Low tumor miR-2110 levels were significantly correlated with high tumor TSKU mRNA levels. (PMID:30550571)
- in lung cancer cells, TSK is expressed more highly than the other small leucine-rich repeat proteoglycan family members, and regulates the epithelial-mesenchymal transition and cell proliferation (PMID:31027686)
- The hepatokine Tsukushi is released in response to NAFLD and impacts cholesterol homeostasis. (PMID:31391339)
- Gastric banding-associated weight loss diminishes hepatic Tsukushi expression. (PMID:32442908)
- Elevated Serum Tsukushi Levels in Patients With Hyperthyroidism. (PMID:33117292)
- Novel roles of Tsukushi in signaling pathways and multiple disease processes. (PMID:33759220)
- Tsukushi and TSKU genotype in obesity and related metabolic disorders. (PMID:33860453)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | tsku | ENSDARG00000040815 |
| mus_musculus | Tsku | ENSMUSG00000049580 |
| rattus_norvegicus | Tsku | ENSRNOG00000027784 |
Paralogs (22): IGFALS (ENSG00000099769), TLR8 (ENSG00000101916), LRRC17 (ENSG00000128606), RXFP2 (ENSG00000133105), CD180 (ENSG00000134061), TLR4 (ENSG00000136869), TLR2 (ENSG00000137462), LRRC32 (ENSG00000137507), LRRC3 (ENSG00000160233), LRRC53 (ENSG00000162621), TLR3 (ENSG00000164342), VASN (ENSG00000168140), RXFP1 (ENSG00000171509), NRROS (ENSG00000174004), TLR10 (ENSG00000174123), TLR1 (ENSG00000174125), TLR6 (ENSG00000174130), LRRC3B (ENSG00000179796), TLR5 (ENSG00000187554), TLR7 (ENSG00000196664), LRIT2 (ENSG00000204033), LRRC3C (ENSG00000204913)
Protein
Protein identifiers
Tsukushi — Q8WUA8 (reviewed: Q8WUA8)
Alternative names: E2-induced gene 4 protein, Leucine-rich repeat-containing protein 54
All UniProt accessions (3): Q8WUA8, E9PLG7, E9PN12
UniProt curated annotations — full annotation on UniProt →
Function. Contributes to various developmental events and other processes such as wound healing and cholesterol homeostasis through its interactions with multiple signaling pathways. Wnt signaling inhibitor which competes with WNT2B for binding to Wnt receptor FZD4 and represses WNT2B-dependent development of the peripheral eye. Plays a role in regulating the hair cycle by controlling TGFB1 signaling. Required for the development of the anterior commissure in the brain by inhibiting neurite outgrowth. Essential for terminal differentiation of hippocampal neural stem cells. Plays a role in regulating bone elongation and bone mass by modulating growth plate chondrocyte function and overall body size. Required for development of the inner ear through its involvement in stereocilia formation in inner hair cells. Facilitates wound healing by inhibiting secretion of TGFB1 from macrophages which prevents myofibroblast differentiation, maintaining inflammatory cell quiescence. Plays a role in cholesterol homeostasis by reducing circulating high-density lipoprotein cholesterol, lowering cholesterol efflux capacity and decreasing cholesterol-to-bile acid conversion in the liver. In one study, shown to negatively regulate sympathetic innervation in brown fat, leading to reduced energy expenditure. In another study, shown not to affect brown fat thermogenic capacity, body weight gain or glucose homeostasis.
Subunit / interactions. Interacts with FZD4 (via FZ domain); competes with WNT2B for binding to FZD4, inhibiting Wnt signaling and repressing peripheral eye development. Interacts with TGFB1; the interaction contributes to regulation of the hair cycle. Interacts with netrin. Interacts with CCN2.
Subcellular location. Secreted.
Induction. By 17-beta-estradiol.
Miscellaneous. This factor is named ‘Tsukushi’ because its expression pattern in chick embryos is similar to the shape of the Japanese horsetail plant, tsukushi.
RefSeq proteins (5): NP_001245139, NP_001305406, NP_001305407, NP_001305408, NP_056331* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001611 | Leu-rich_rpt | Repeat |
| IPR003591 | Leu-rich_rpt_typical-subtyp | Repeat |
| IPR032675 | LRR_dom_sf | Homologous_superfamily |
Pfam: PF00560, PF13855
UniProt features (20 total): repeat 10, sequence variant 4, glycosylation site 2, signal peptide 1, chain 1, sequence conflict 1, domain 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8WUA8-F1 | 86.55 | 0.62 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Glycosylation sites (2): 74, 137
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 257 (showing top):
GOBP_CARTILAGE_DEVELOPMENT, GOBP_SKELETAL_SYSTEM_DEVELOPMENT, GOBP_STEROL_HOMEOSTASIS, GOBP_GROWTH, GOBP_NEUROGENESIS, TAL1ALPHAE47_01, GOBP_REGULATION_OF_WNT_SIGNALING_PATHWAY, GOBP_CHONDROCYTE_DEVELOPMENT, GOBP_REGULATION_OF_HAIR_CYCLE, CAGGTCC_MIR492, GOBP_VENTRICULAR_SYSTEM_DEVELOPMENT, GOBP_BONE_GROWTH, chr11q13, GOBP_FOREBRAIN_DEVELOPMENT, GOBP_ORGANIC_HYDROXY_COMPOUND_TRANSPORT
GO Biological Process (24): growth plate cartilage chondrocyte development (GO:0003431), immune response (GO:0006955), transforming growth factor beta receptor signaling pathway (GO:0007179), cholesterol metabolic process (GO:0008203), regulation of gene expression (GO:0010468), negative regulation of neuron projection development (GO:0010977), corpus callosum morphogenesis (GO:0021540), lateral ventricle development (GO:0021670), hippocampus development (GO:0021766), anterior commissure morphogenesis (GO:0021960), negative regulation of Wnt signaling pathway (GO:0030178), negative regulation of transforming growth factor beta1 production (GO:0032911), cholesterol efflux (GO:0033344), wound healing (GO:0042060), cholesterol homeostasis (GO:0042632), positive regulation of hair cycle (GO:0042635), camera-type eye development (GO:0043010), inner ear receptor cell stereocilium organization (GO:0060122), ciliary body morphogenesis (GO:0061073), energy homeostasis (GO:0097009), bone growth (GO:0098868), negative regulation of myofibroblast differentiation (GO:1904761), nervous system development (GO:0007399), anatomical structure morphogenesis (GO:0009653)
GO Molecular Function (3): transforming growth factor beta binding (GO:0050431), protein binding (GO:0005515), cytokine binding (GO:0019955)
GO Cellular Component (2): obsolete extracellular space (GO:0005615), extracellular region (GO:0005576)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| neuron projection development | 2 |
| central nervous system projection neuron axonogenesis | 2 |
| telencephalon development | 2 |
| anatomical structure development | 2 |
| growth plate cartilage chondrocyte differentiation | 1 |
| chondrocyte development involved in endochondral bone morphogenesis | 1 |
| immune system process | 1 |
| response to stimulus | 1 |
| cellular response to transforming growth factor beta stimulus | 1 |
| transforming growth factor beta receptor superfamily signaling pathway | 1 |
| sterol metabolic process | 1 |
| secondary alcohol metabolic process | 1 |
| gene expression | 1 |
| regulation of macromolecule biosynthetic process | 1 |
| regulation of neuron projection development | 1 |
| negative regulation of cell projection organization | 1 |
| corpus callosum development | 1 |
| ventricular system development | 1 |
| pallium development | 1 |
| limbic system development | 1 |
| negative regulation of signal transduction | 1 |
| Wnt signaling pathway | 1 |
| regulation of Wnt signaling pathway | 1 |
| transforming growth factor beta1 production | 1 |
| regulation of transforming growth factor beta1 production | 1 |
| negative regulation of transforming growth factor beta production | 1 |
| cholesterol transport | 1 |
| response to wounding | 1 |
| tissue regeneration | 1 |
| sterol homeostasis | 1 |
| hair cycle | 1 |
| regulation of hair cycle | 1 |
| positive regulation of multicellular organismal process | 1 |
| eye development | 1 |
| inner ear receptor cell development | 1 |
| anatomical structure morphogenesis | 1 |
| camera-type eye morphogenesis | 1 |
| multicellular organismal-level homeostasis | 1 |
| growth factor binding | 1 |
| cytokine binding | 1 |
Protein interactions and networks
STRING
1016 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| TSKU | CHRD | Q9H2X0 | 834 |
| TSKU | FZD4 | Q9ULV1 | 710 |
| TSKU | ACER3 | Q9NUN7 | 542 |
| TSKU | CCDC201 | A0A1B0GTI1 | 526 |
| TSKU | BMP4 | P12644 | 492 |
| TSKU | TGFB1 | P01137 | 478 |
| TSKU | FGF8 | P55075 | 470 |
| TSKU | D6RC18 | D6RC18 | 459 |
| TSKU | PDE4C | Q08493 | 459 |
| TSKU | ZSCAN2 | Q7Z7L9 | 454 |
| TSKU | OPTC | Q9UBM4 | 445 |
| TSKU | TBRG1 | Q3YBR2 | 439 |
| TSKU | STOML1 | Q9UBI4 | 425 |
| TSKU | EPDR1 | Q9UM22 | 406 |
| TSKU | OMD | Q99983 | 404 |
IntAct
8 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| SKIL | TSKU | psi-mi:“MI:0915”(physical association) | 0.370 |
| UXS1 | IPO7 | psi-mi:“MI:0914”(association) | 0.350 |
| SHTN1 | psi-mi:“MI:0914”(association) | 0.350 | |
| UXS1 | HRAS | psi-mi:“MI:0914”(association) | 0.350 |
| UXS1 | PDE2A | psi-mi:“MI:0914”(association) | 0.350 |
| SLC30A5 | NBAS | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (9): TSKU (Affinity Capture-MS), TSKU (Affinity Capture-MS), TSKU (Affinity Capture-MS), TSKU (Proximity Label-MS), TSKU (Protein-peptide), TSKU (Affinity Capture-MS), TSKU (Cross-Linking-MS (XL-MS)), TSKU (Affinity Capture-MS), TSKU (Two-hybrid)
ESM2 similar proteins: A1A4H9, A4IFA6, A6NDA9, E7FE13, G3XA59, O08644, O08742, O08770, O14498, O15197, P0C0K6, P0C0K7, P35590, P40197, P59383, Q06805, Q06806, Q14392, Q149C3, Q3ZBI5, Q5JZY3, Q5NVQ6, Q5R6B1, Q5RF01, Q5RKR3, Q6EMK4, Q6GU68, Q6P7C4, Q6PFC5, Q6QMY6, Q6UXK2, Q6UY18, Q80ZD5, Q86UE6, Q86WK7, Q86YC3, Q8BGX3, Q8BYG9, Q8C2S7, Q8CBR6
Diamond homologs: A3KNN3, A4IFA6, A4IIW9, A6H789, A6H793, A6NJW4, A8WHP9, C3YZ59, E5DHB5, F7D3V9, G5EFX6, O14498, O35367, O46542, O60938, O62702, O75093, O75094, O75473, O88186, O88279, O88280, O94813, P07585, P14770, P21793, P24014, P28654, P28675, P59034, P59035, P70193, Q01129, Q13641, Q28888, Q29393, Q3SXY7, Q3ZBN5, Q45R42, Q4KLL3
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
66 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 58 |
| Likely benign | 6 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
356 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 11:76795607:A:AG | acceptor_gain | 1.0000 |
| 11:76795608:G:GG | acceptor_gain | 1.0000 |
| 11:76793801:GGG:G | donor_gain | 0.9900 |
| 11:76793802:GGG:G | donor_gain | 0.9900 |
| 11:76795603:TTCTA:T | acceptor_loss | 0.9900 |
| 11:76795604:TCTA:T | acceptor_loss | 0.9900 |
| 11:76795605:CTA:C | acceptor_loss | 0.9900 |
| 11:76795606:TAG:T | acceptor_loss | 0.9900 |
| 11:76795608:G:A | acceptor_loss | 0.9900 |
| 11:76793803:G:T | donor_gain | 0.9800 |
| 11:76795608:GC:G | acceptor_gain | 0.9800 |
| 11:76795608:GCC:G | acceptor_gain | 0.9800 |
| 11:76795608:GCCC:G | acceptor_gain | 0.9800 |
| 11:76795608:GCCCC:G | acceptor_gain | 0.9800 |
| 11:76782430:CAAG:C | donor_loss | 0.9700 |
| 11:76782431:AAGG:A | donor_loss | 0.9700 |
| 11:76782433:GGTA:G | donor_loss | 0.9700 |
| 11:76793798:A:T | donor_gain | 0.9700 |
| 11:76783404:GGT:G | donor_loss | 0.9500 |
| 11:76783405:G:T | donor_loss | 0.9500 |
| 11:76783406:T:G | donor_loss | 0.9500 |
| 11:76784707:GA:G | donor_gain | 0.9500 |
| 11:76784708:A:G | donor_gain | 0.9300 |
| 11:76792409:T:G | donor_gain | 0.9100 |
| 11:76792701:C:A | acceptor_gain | 0.9100 |
| 11:76782835:T:TA | donor_gain | 0.8900 |
| 11:76782836:A:AA | donor_gain | 0.8900 |
| 11:76784653:G:GT | donor_gain | 0.8900 |
| 11:76783407:GAGT:G | donor_loss | 0.8800 |
| 11:76793752:G:GT | acceptor_gain | 0.8700 |
AlphaMissense
2240 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 11:76795888:T:C | L91P | 0.993 |
| 11:76795725:T:C | F37L | 0.992 |
| 11:76795727:C:A | F37L | 0.992 |
| 11:76795727:C:G | F37L | 0.992 |
| 11:76795747:G:A | C44Y | 0.992 |
| 11:76795748:T:G | C44W | 0.991 |
| 11:76795804:T:C | L63S | 0.991 |
| 11:76795746:T:A | C44S | 0.989 |
| 11:76795747:G:C | C44S | 0.989 |
| 11:76795810:T:C | L65P | 0.989 |
| 11:76795898:C:A | N94K | 0.989 |
| 11:76795898:C:G | N94K | 0.989 |
| 11:76795960:T:C | L115P | 0.989 |
| 11:76795692:T:A | C26S | 0.987 |
| 11:76795693:G:C | C26S | 0.987 |
| 11:76795746:T:C | C44R | 0.987 |
| 11:76795882:T:C | L89P | 0.987 |
| 11:76795888:T:A | L91H | 0.987 |
| 11:76795686:T:A | C24S | 0.986 |
| 11:76795687:G:C | C24S | 0.986 |
| 11:76796117:C:A | N167K | 0.986 |
| 11:76796117:C:G | N167K | 0.986 |
| 11:76796029:T:C | L138P | 0.985 |
| 11:76795717:T:G | F34C | 0.984 |
| 11:76795722:A:C | S36R | 0.984 |
| 11:76795724:C:A | S36R | 0.984 |
| 11:76795724:C:G | S36R | 0.984 |
| 11:76795954:T:A | L113H | 0.984 |
| 11:76795716:T:C | F34L | 0.983 |
| 11:76795718:C:A | F34L | 0.983 |
dbSNP variants (sampled 300 via entrez): RS1000116931 (11:76783363 C>T), RS1000204734 (11:76788733 T>C), RS1000352507 (11:76795280 C>T), RS1000629388 (11:76794623 C>G), RS1000861856 (11:76784495 C>T), RS1000923587 (11:76790075 A>G), RS1001016704 (11:76789714 T>A,C,G), RS1001103322 (11:76784131 C>A,T), RS1001209889 (11:76790233 A>G), RS1001245882 (11:76785442 G>A), RS1001467160 (11:76797480 G>A,C), RS1001756036 (11:76796401 C>A,T), RS1002041133 (11:76780733 G>A,C), RS1002096572 (11:76780435 T>C), RS1002097601 (11:76785282 A>C)
Disease associations
OMIM: gene MIM:608015 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
6 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST007401_26 | Factor VII activity | 1.000000e-10 |
| GCST007401_7 | Factor VII activity | 2.000000e-10 |
| GCST009798_77 | Asthma | 4.000000e-35 |
| GCST009798_82 | Asthma | 2.000000e-45 |
| GCST010988_422 | Adult body size | 5.000000e-08 |
| GCST90000514_17 | Gastroesophageal reflux disease | 1.000000e-08 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004619 | factor VII measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
54 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Benzo(a)pyrene | affects methylation, decreases expression, increases expression | 8 |
| Estradiol | affects reaction, increases reaction, decreases reaction, increases expression, decreases expression (+1 more) | 5 |
| Tetrachlorodibenzodioxin | decreases expression, increases expression, affects expression, affects binding, increases reaction | 5 |
| bisphenol A | increases expression, affects expression | 4 |
| sodium arsenite | increases abundance, increases expression, decreases expression | 3 |
| Genistein | increases expression | 3 |
| graphene oxide | increases expression | 2 |
| Rifampin | increases expression | 2 |
| Tobacco Smoke Pollution | decreases expression, increases expression | 2 |
| Cyclosporine | decreases expression, increases expression | 2 |
| Aflatoxin B1 | affects expression, decreases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| pirinixic acid | affects binding, increases activity, increases expression | 1 |
| tris(2-butoxyethyl) phosphate | affects expression | 1 |
| o,p’-DDT | increases expression | 1 |
| afimoxifene | decreases reaction, increases expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | increases expression | 1 |
| butyraldehyde | decreases expression | 1 |
| 9,10-dihydro-9,10-dihydroxybenzo(a)pyrene | increases expression | 1 |
| beta-methylcholine | affects expression | 1 |
| brequinar | increases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| chloropicrin | decreases expression | 1 |
| corosolic acid | increases expression | 1 |
| ICG 001 | increases expression | 1 |
| abrine | decreases expression | 1 |
| jinfukang | affects cotreatment, increases expression | 1 |
| picoxystrobin | decreases expression | 1 |
| (+)-JQ1 compound | decreases expression | 1 |
| 4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid | increases expression | 1 |
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): gastroesophageal reflux disease