SCUBE1
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Summary
SCUBE1 (signal peptide, CUB domain and EGF like domain containing 1, HGNC:13441) is a protein-coding gene on chromosome 22q13.2, encoding Signal peptide, CUB and EGF-like domain-containing protein 1 (Q8IWY4). Could function as an adhesive molecule and its matrix bound and soluble fragments may play a critical role in vascular biology.
This gene encodes a cell surface glycoprotein that is a member of the SCUBE (signal peptide, CUB domain, EGF (epidermal growth factor)-like protein) family. Family members have an amino-terminal signal peptide, nine copies of EGF-like repeats and a CUB domain at the carboxyl terminus. This protein is expressed in platelets and endothelial cells and may play an important role in vascular biology.
Source: NCBI Gene 80274 — RefSeq curated summary.
At a glance
- GWAS associations: 6
- Clinical variants (ClinVar): 192 total
- MANE Select transcript:
NM_173050
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:13441 |
| Approved symbol | SCUBE1 |
| Name | signal peptide, CUB domain and EGF like domain containing 1 |
| Location | 22q13.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000159307 |
| Ensembl biotype | protein_coding |
| OMIM | 611746 |
| Entrez | 80274 |
Gene structure
Transcript identifiers
Ensembl transcripts: 12 — 8 protein_coding, 4 protein_coding_CDS_not_defined
ENST00000290460, ENST00000360835, ENST00000449304, ENST00000461595, ENST00000470433, ENST00000477991, ENST00000480833, ENST00000911326, ENST00000911327, ENST00000911328, ENST00000911329, ENST00000954506
RefSeq mRNA: 1 — MANE Select: NM_173050
NM_173050
CCDS: CCDS14048
Canonical transcript exons
ENST00000360835 — 22 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001044754 | 43222638 | 43222742 |
| ENSE00001044777 | 43227374 | 43227496 |
| ENSE00001304577 | 43223097 | 43223216 |
| ENSE00001319419 | 43221173 | 43221289 |
| ENSE00001822122 | 43343174 | 43343372 |
| ENSE00001951651 | 43197280 | 43204149 |
| ENSE00002202322 | 43220450 | 43220587 |
| ENSE00002208047 | 43207534 | 43207613 |
| ENSE00002211492 | 43218255 | 43218458 |
| ENSE00002222495 | 43210043 | 43210240 |
| ENSE00002253658 | 43214090 | 43214251 |
| ENSE00002260628 | 43208072 | 43208224 |
| ENSE00002303140 | 43212425 | 43212592 |
| ENSE00002430869 | 43238838 | 43238954 |
| ENSE00002436551 | 43258219 | 43258335 |
| ENSE00002484391 | 43339104 | 43339235 |
| ENSE00002492738 | 43210922 | 43211083 |
| ENSE00002512774 | 43229072 | 43229188 |
| ENSE00002515907 | 43291046 | 43291180 |
| ENSE00002528828 | 43262720 | 43262845 |
| ENSE00002535097 | 43231753 | 43231875 |
| ENSE00003661289 | 43319937 | 43320065 |
Expression profiles
Bgee: expression breadth ubiquitous, 188 present calls, max score 95.99.
FANTOM5 (CAGE): breadth broad, TPM avg 4.2371 / max 178.5057, expressed in 501 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 194507 | 4.2371 | 501 |
Top tissues by expression
228 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| mucosa of stomach | UBERON:0001199 | 95.99 | gold quality |
| tibia | UBERON:0000979 | 92.65 | gold quality |
| cortical plate | UBERON:0005343 | 91.69 | gold quality |
| tibial nerve | UBERON:0001323 | 89.00 | gold quality |
| kidney epithelium | UBERON:0004819 | 88.91 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 87.19 | gold quality |
| lower esophagus | UBERON:0013473 | 87.08 | gold quality |
| left ovary | UBERON:0002119 | 85.85 | gold quality |
| sural nerve | UBERON:0015488 | 85.56 | gold quality |
| nasal cavity epithelium | UBERON:0005384 | 85.41 | gold quality |
| ganglionic eminence | UBERON:0004023 | 85.28 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 85.13 | gold quality |
| right ovary | UBERON:0002118 | 84.22 | gold quality |
| ventricular zone | UBERON:0003053 | 84.07 | gold quality |
| epithelial cell of pancreas | CL:0000083 | 83.80 | silver quality |
| ovary | UBERON:0000992 | 81.81 | gold quality |
| left ventricle myocardium | UBERON:0006566 | 80.17 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 80.15 | gold quality |
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 79.90 | silver quality |
| skeletal muscle tissue of biceps brachii | UBERON:0004502 | 79.03 | gold quality |
| myocardium | UBERON:0002349 | 79.01 | gold quality |
| right lung | UBERON:0002167 | 78.62 | gold quality |
| cardiac muscle of right atrium | UBERON:0003379 | 78.26 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 78.01 | gold quality |
| vena cava | UBERON:0004087 | 76.70 | silver quality |
| left adrenal gland cortex | UBERON:0035825 | 76.50 | gold quality |
| layer of synovial tissue | UBERON:0007616 | 75.96 | gold quality |
| left adrenal gland | UBERON:0001234 | 75.63 | gold quality |
| adrenal cortex | UBERON:0001235 | 75.62 | gold quality |
| esophagus | UBERON:0001043 | 75.04 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-10137 | yes | 677.07 |
| E-ANND-3 | no | 4.94 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
65 targeting SCUBE1, 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-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-6127 | 100.00 | 66.76 | 2188 |
| HSA-MIR-4510 | 100.00 | 66.60 | 2050 |
| HSA-MIR-6129 | 100.00 | 66.46 | 2080 |
| HSA-MIR-6130 | 100.00 | 66.69 | 2012 |
| HSA-MIR-6133 | 100.00 | 66.48 | 2064 |
| HSA-MIR-4747-5P | 100.00 | 67.90 | 2681 |
| HSA-MIR-5196-5P | 100.00 | 67.98 | 2761 |
| HSA-MIR-23B-5P | 99.98 | 66.07 | 587 |
| HSA-MIR-6780B-5P | 99.96 | 69.60 | 2562 |
| HSA-MIR-23A-5P | 99.94 | 65.39 | 468 |
| HSA-MIR-4492 | 99.87 | 68.25 | 3611 |
| HSA-MIR-4728-5P | 99.85 | 69.39 | 4718 |
| HSA-MIR-4739 | 99.84 | 65.25 | 1832 |
| HSA-MIR-1321 | 99.84 | 65.30 | 1811 |
| HSA-MIR-4756-5P | 99.84 | 64.98 | 1809 |
| HSA-MIR-765 | 99.84 | 68.24 | 2442 |
| HSA-MIR-6785-5P | 99.82 | 68.68 | 4428 |
| HSA-MIR-3121-3P | 99.82 | 71.96 | 3630 |
| HSA-MIR-3934-3P | 99.76 | 65.51 | 1351 |
| HSA-MIR-4319 | 99.76 | 69.83 | 2586 |
| HSA-MIR-11181-3P | 99.75 | 66.38 | 2205 |
| HSA-MIR-149-3P | 99.72 | 68.22 | 3963 |
| HSA-MIR-378G | 99.71 | 64.90 | 1106 |
| HSA-MIR-6883-5P | 99.69 | 68.05 | 3785 |
| HSA-MIR-3202 | 99.66 | 67.70 | 2737 |
| HSA-MIR-6887-3P | 99.66 | 67.83 | 1778 |
| HSA-MIR-1249-5P | 99.61 | 66.55 | 2049 |
| HSA-MIR-6797-5P | 99.61 | 66.55 | 2084 |
Literature-anchored findings (GeneRIF, showing 21)
- identification as secreted protein that is expressed in vascular endothelium and may play important roles in development, inflammation, and thrombosis (PMID:12270931)
- SCUBE1 level, a potential acute ischemia marker, is elevated in hemodialysis patients with no clinical ischemic event. (PMID:22874483)
- Primary prostatic cancer-associated fibroblasts (CAFs) were isolated and the expression of CAF markers, Dlk1 and SCUBE1 transcripts were characterised. (PMID:23136397)
- SCUBE 1 levels in patients with gastric cancer were found higher compared to healthy subjects. (PMID:23220851)
- SCUBE1 levels are a new biomarker that can be used in the differential diagnosis and monitoring of patients hospitalized with suspected CCHF. (PMID:23632301)
- SCUBE1 may indicate hypercoagulability in patients with BC and thus help identify patients at greater risk of thrombosisSCUBE1 may indicate hypercoagulability in patients with breast cancer and thus help identify patients at greater risk of thrombosis (PMID:26438214)
- describe novel mechanisms in targeting S1 to the plasma membrane and demonstrate that N-glycans are required for S1 functions during primitive haematopoiesis in zebrafish. (PMID:26699903)
- SCUBE1 might be a novel prognostic biomarker after traumatic brain injury (PMID:26940951)
- enhanced SCUBE1 concentrations are correlated with increasing severity and poor outcomes of aneurysmal subarachnoid hemorrhage patients, indicating SCUBE1 might have the potential to identify aneurysmal subarachnoid hemorrhage patients at risk of poor prognosis (PMID:27265525)
- Increased serum SCUBE1 concentrations have close relation to increasing severity and poor prognosis of intracerebral hemorrhage (PMID:27496080)
- The results of this pioneering study indicate that SCUBE protein family appears to have a probable role in the pathogenesis and angiogenesis development in psoriasis and SCUBE 1 and 3 may be novel markers of angiogenesis in psoriasis. (PMID:28238185)
- Hemodialysis may contribute to cardiovascular events because of increased SCUBE1 levels after hemodialysis; however, no association was shown between SCUBE1 and electrocardiography/echocardiography findings. (PMID:30777551)
- Evaluation of SCUBE-1 levels as a placental dysfunction marker at gestational diabetes mellitus. (PMID:31668102)
- De Novo Damaging DNA Coding Mutations Are Associated With Obsessive-Compulsive Disorder and Overlap With Tourette’s Disorder and Autism. (PMID:31771860)
- The relationship of serum SCUBE-1, -2 and -3 levels with clinical findings and ultrasonographic skin thickness in systemic sclerosis patients. (PMID:31991528)
- Pericardial SCUBE1 levels may help predict postoperative results in patients operated on for coronary artery bypass graft surgery. (PMID:34292290)
- SCUBE1 is associated with thrombotic complications, disease severity, and in-hospital mortality in COVID-19 patients. (PMID:36334396)
- Predictive Value of Combined Plasma D-Dimer, SCUBE1, and Right Ventricular Tei Index for the Prognosis of Elderly Patients with Acute Pulmonary Thromboembolism. (PMID:36517978)
- The diagnostic potential of plasma SCUBE-1 concentration for pulmonary embolism: A pilot study. (PMID:36748401)
- Could SCUBE-1 be a marker for subclinical atherosclerosis other than carotid artery intima-media thickness in patients with psoriasis? (PMID:37198010)
- SCUBE1 promotes pulmonary artery smooth muscle cell proliferation and migration in acute pulmonary embolism by modulating BMP7. (PMID:38259670)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | scube1 | ENSDARG00000063097 |
| mus_musculus | Scube1 | ENSMUSG00000016763 |
| rattus_norvegicus | Scube1 | ENSRNOG00000010617 |
Paralogs (2): SCUBE3 (ENSG00000146197), SCUBE2 (ENSG00000175356)
Protein
Protein identifiers
Signal peptide, CUB and EGF-like domain-containing protein 1 — Q8IWY4 (reviewed: Q8IWY4)
All UniProt accessions (3): Q8IWY4, B1AH90, H0Y4Y9
UniProt curated annotations — full annotation on UniProt →
Function. Could function as an adhesive molecule and its matrix bound and soluble fragments may play a critical role in vascular biology.
Subunit / interactions. Forms homooligomers. Forms heterooligomers with SCUBE2. Forms heterooligomers with SCUBE3.
Subcellular location. Secreted. Cell membrane.
Tissue specificity. Detected in endothelial cells. Highly expressed in platelets. Stored in platelet alpha granules, and transferred to the cell surface upon activation and aggregation. A smaller form, probably produced by limited proteolysis, after being released from the storage granules, is associated with thrombus and localized with the subendothelial matrices in atherosclerotic plaques.
Post-translational modifications. N-glycosylated. Could be proteolytically cleaved to release a smaller active fragment.
Induction. Down-regulated by inflammatory cytokines.
RefSeq proteins (1): NP_766638* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000152 | EGF-type_Asp/Asn_hydroxyl_site | PTM |
| IPR000742 | EGF | Domain |
| IPR000859 | CUB_dom | Domain |
| IPR001881 | EGF-like_Ca-bd_dom | Domain |
| IPR009030 | Growth_fac_rcpt_cys_sf | Homologous_superfamily |
| IPR011641 | Tyr-kin_ephrin_A/B_rcpt-like | Domain |
| IPR018097 | EGF_Ca-bd_CS | Conserved_site |
| IPR024731 | NELL2-like_EGF | Domain |
| IPR026823 | cEGF | Domain |
| IPR035914 | Sperma_CUB_dom_sf | Homologous_superfamily |
| IPR049883 | NOTCH1_EGF-like | Domain |
| IPR052071 | SCUB_EGF-like_domain | Family |
Pfam: PF00431, PF07645, PF07699, PF12662, PF12947, PF14670
UniProt features (42 total): disulfide bond 19, domain 10, glycosylation site 6, sequence conflict 3, sequence variant 2, signal peptide 1, chain 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8IWY4-F1 | 77.69 | 0.14 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Disulfide bonds (19): 37–50, 44–59, 61–72, 78–91, 87–100, 102–115, 121–132, 128–141, 286–297, 293–306, 308–321, 327–337, 333–346, 348–360, 366–377, 373–386, 388–401, 798–824, 851–872
Glycosylation sites (6): 370, 466, 679, 750, 779, 789
Function
Pathways and Gene Ontology
Reactome pathways
2 pathways
| ID | Pathway |
|---|---|
| R-HSA-1474228 | Degradation of the extracellular matrix |
| R-HSA-1474244 | Extracellular matrix organization |
MSigDB gene sets: 91 (showing top):
GOBP_EPITHELIUM_DEVELOPMENT, GOBP_INFLAMMATORY_RESPONSE, GOCC_CELL_SURFACE, HATADA_METHYLATED_IN_LUNG_CANCER_DN, GOBP_WOUND_HEALING, MARTINEZ_RB1_TARGETS_UP, GOBP_ENDOTHELIUM_DEVELOPMENT, GOBP_REGULATION_OF_SMOOTHENED_SIGNALING_PATHWAY, ZHAN_MULTIPLE_MYELOMA_LB_UP, GOBP_SMOOTHENED_SIGNALING_PATHWAY, GOBP_HEMOSTASIS, DBP_Q6, GOBP_ADULT_HEART_DEVELOPMENT, GATA4_Q3, GOBP_POSITIVE_REGULATION_OF_SMOOTHENED_SIGNALING_PATHWAY
GO Biological Process (7): inflammatory response (GO:0006954), signal transduction (GO:0007165), adult heart development (GO:0007512), blood coagulation (GO:0007596), post-embryonic development (GO:0009791), endothelial cell differentiation (GO:0045446), positive regulation of smoothened signaling pathway (GO:0045880)
GO Molecular Function (3): calcium ion binding (GO:0005509), identical protein binding (GO:0042802), protein binding (GO:0005515)
GO Cellular Component (6): obsolete extracellular space (GO:0005615), plasma membrane (GO:0005886), external side of plasma membrane (GO:0009897), cell surface (GO:0009986), extracellular region (GO:0005576), membrane (GO:0016020)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Extracellular matrix organization | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| defense response | 1 |
| cell communication | 1 |
| cellular process | 1 |
| signaling | 1 |
| regulation of cellular process | 1 |
| cellular response to stimulus | 1 |
| heart development | 1 |
| hemostasis | 1 |
| wound healing | 1 |
| coagulation | 1 |
| multicellular organism development | 1 |
| multicellular organismal process | 1 |
| endothelium development | 1 |
| epithelial cell differentiation | 1 |
| smoothened signaling pathway | 1 |
| regulation of smoothened signaling pathway | 1 |
| positive regulation of signal transduction | 1 |
| metal ion binding | 1 |
| protein binding | 1 |
| binding | 1 |
| membrane | 1 |
| cell periphery | 1 |
| plasma membrane | 1 |
| cell surface | 1 |
| side of membrane | 1 |
Protein interactions and networks
STRING
1147 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| SCUBE1 | C1R | P00736 | 453 |
| SCUBE1 | BMP2 | P12643 | 446 |
| SCUBE1 | C1S | P09871 | 440 |
| SCUBE1 | GCC2 | Q8IWJ2 | 390 |
| SCUBE1 | BDNF | P23560 | 384 |
| SCUBE1 | IL1B | P01584 | 361 |
| SCUBE1 | CHRD | Q9H2X0 | 350 |
| SCUBE1 | OR4D5 | Q8NGN0 | 325 |
| SCUBE1 | SEMA6A | Q9H2E6 | 324 |
| SCUBE1 | LSMEM2 | Q8N112 | 321 |
| SCUBE1 | EGF | P01133 | 318 |
| SCUBE1 | CADPS2 | Q86UW7 | 317 |
| SCUBE1 | IRX3 | P78415 | 315 |
| SCUBE1 | ICA1 | P78506 | 314 |
| SCUBE1 | XKR6 | Q5GH73 | 310 |
IntAct
0 interactions, top by confidence:
ESM2 similar proteins: A0A096LNW5, B8JI71, D3ZHH1, G3I6Z6, O00548, O35516, O57409, P0DPK3, P0DPK4, P35442, P46531, P78504, P97677, Q01705, Q04721, Q05793, Q07008, Q08E66, Q2QI47, Q5G872, Q5ZQU0, Q61483, Q63722, Q66PY1, Q6DI48, Q6NZL8, Q70E20, Q7TQN3, Q7Z3S9, Q8IWY4, Q8IX30, Q8JZM4, Q8K3K1, Q8NFT8, Q8TER0, Q8TEU8, Q8UWJ4, Q8VHS2, Q90Y54, Q90Y57
Diamond homologs: A0A1D5NSM8, A2AVA0, D3YXF5, O02839, O19124, O35764, O43405, O62685, O62837, O70340, O76536, O95502, O96530, P00751, P04003, P04186, P06205, P06206, P06207, P06681, P07629, P08174, P08607, P0C6B8, P13944, P14151, P14650, P15529, P17690, P18337, P26022, P32018, P33703, P35419, P42201, P47970, P47971, P47972, P48199, P48759
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
192 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 163 |
| Likely benign | 9 |
| Benign | 7 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
4732 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 22:43207528:A:AC | donor_gain | 1.0000 |
| 22:43207529:C:CC | donor_gain | 1.0000 |
| 22:43207529:CT:C | donor_gain | 1.0000 |
| 22:43207529:CTCA:C | donor_gain | 1.0000 |
| 22:43207531:CA:C | donor_loss | 1.0000 |
| 22:43207532:A:AC | donor_gain | 1.0000 |
| 22:43207533:C:CC | donor_gain | 1.0000 |
| 22:43207533:C:CG | donor_loss | 1.0000 |
| 22:43207533:CT:C | donor_gain | 1.0000 |
| 22:43207533:CTTT:C | donor_gain | 1.0000 |
| 22:43207544:T:TA | donor_gain | 1.0000 |
| 22:43207627:C:CT | acceptor_gain | 1.0000 |
| 22:43207628:A:T | acceptor_gain | 1.0000 |
| 22:43207630:C:CT | acceptor_gain | 1.0000 |
| 22:43207631:A:T | acceptor_gain | 1.0000 |
| 22:43208065:ATCTT:A | donor_loss | 1.0000 |
| 22:43208066:TCTTA:T | donor_loss | 1.0000 |
| 22:43208067:CTTA:C | donor_loss | 1.0000 |
| 22:43208068:TTA:T | donor_loss | 1.0000 |
| 22:43208069:TACC:T | donor_loss | 1.0000 |
| 22:43208070:A:AC | donor_gain | 1.0000 |
| 22:43208070:A:C | donor_loss | 1.0000 |
| 22:43208071:C:CC | donor_gain | 1.0000 |
| 22:43208071:C:CT | donor_loss | 1.0000 |
| 22:43208071:CCAT:C | donor_gain | 1.0000 |
| 22:43208221:GAGG:G | acceptor_gain | 1.0000 |
| 22:43208223:GG:G | acceptor_gain | 1.0000 |
| 22:43208224:GC:G | acceptor_loss | 1.0000 |
| 22:43208225:C:CC | acceptor_gain | 1.0000 |
| 22:43210039:ATACC:A | donor_loss | 1.0000 |
AlphaMissense
6560 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 22:43210114:A:G | L837P | 1.000 |
| 22:43238842:G:C | C280W | 1.000 |
| 22:43238843:C:G | C280S | 1.000 |
| 22:43238843:C:T | C280Y | 1.000 |
| 22:43238844:A:G | C280R | 1.000 |
| 22:43238844:A:T | C280S | 1.000 |
| 22:43238881:G:C | C267W | 1.000 |
| 22:43238882:C:T | C267Y | 1.000 |
| 22:43238883:A:G | C267R | 1.000 |
| 22:43238888:C:G | C265S | 1.000 |
| 22:43238889:A:G | C265R | 1.000 |
| 22:43238889:A:T | C265S | 1.000 |
| 22:43238914:G:C | C256W | 1.000 |
| 22:43238915:C:G | C256S | 1.000 |
| 22:43238915:C:T | C256Y | 1.000 |
| 22:43238916:A:G | C256R | 1.000 |
| 22:43238916:A:T | C256S | 1.000 |
| 22:43238926:G:C | C252W | 1.000 |
| 22:43238927:C:G | C252S | 1.000 |
| 22:43238927:C:T | C252Y | 1.000 |
| 22:43238928:A:G | C252R | 1.000 |
| 22:43238928:A:T | C252S | 1.000 |
| 22:43238947:G:C | C245W | 1.000 |
| 22:43238948:C:T | C245Y | 1.000 |
| 22:43238949:A:G | C245R | 1.000 |
| 22:43258223:G:C | C241W | 1.000 |
| 22:43258224:C:G | C241S | 1.000 |
| 22:43258224:C:T | C241Y | 1.000 |
| 22:43258225:A:G | C241R | 1.000 |
| 22:43258225:A:T | C241S | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000004043 (22:43223836 C>T), RS1000031673 (22:43229741 G>C), RS1000067867 (22:43223586 G>GT), RS1000080343 (22:43229345 C>T), RS1000093537 (22:43197339 T>C), RS1000100475 (22:43294637 C>T), RS1000133025 (22:43294898 T>C), RS1000158284 (22:43246845 C>T), RS1000170978 (22:43344179 G>A), RS1000209536 (22:43243765 GATC>G), RS1000220943 (22:43335772 A>G), RS1000221446 (22:43267318 G>A), RS1000234796 (22:43300022 C>G,T), RS1000259300 (22:43274914 G>A,C), RS1000294456 (22:43335589 C>G)
Disease associations
OMIM: gene MIM:611746 | 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 |
|---|---|---|
| GCST001738_4 | Response to fenofibrate (adiponectin levels) | 2.000000e-06 |
| GCST002114_5 | Molar-incisor hypomineralization | 4.000000e-07 |
| GCST006585_252 | Blood protein levels | 4.000000e-14 |
| GCST008161_32 | Waist circumference adjusted for body mass index | 1.000000e-06 |
| GCST010732_11 | Sensory peripheral neuropathy in microtubule targeting agent-treated breast cancer | 3.000000e-06 |
| GCST90000025_890 | Appendicular lean mass | 3.000000e-11 |
EFO canonical traits (4, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0005321 | molar-incisor hypomineralization |
| EFO:0007789 | BMI-adjusted waist circumference |
| EFO:0005260 | response to antimicrotubule agent |
| EFO:0004980 | appendicular lean mass |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
21 total (human), top 21 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Benzo(a)pyrene | affects methylation, increases methylation | 2 |
| bisphenol A | increases methylation | 1 |
| tris(2-butoxyethyl) phosphate | affects expression | 1 |
| sodium arsenite | affects methylation | 1 |
| benzo(e)pyrene | increases methylation | 1 |
| aflatoxin B2 | increases methylation | 1 |
| bisphenol S | decreases methylation | 1 |
| Resveratrol | affects cotreatment, decreases expression | 1 |
| Air Pollutants | increases expression, increases abundance | 1 |
| Copper | affects cotreatment, decreases expression | 1 |
| Lucanthone | increases expression | 1 |
| Methapyrilene | increases methylation | 1 |
| Oxygen | increases expression | 1 |
| Ozone | increases expression | 1 |
| Silicon Dioxide | decreases methylation | 1 |
| Smoke | increases expression | 1 |
| Triclosan | decreases expression | 1 |
| Valproic Acid | increases methylation | 1 |
| Aflatoxin B1 | affects methylation | 1 |
| Cadmium Chloride | increases expression | 1 |
| Particulate Matter | increases abundance, 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): peripheral neuropathy