SCUBE2
gene geneOn this page
Also known as Cegf1Cegb1FLJ16792
Summary
SCUBE2 (signal peptide, CUB domain and EGF like domain containing 2, HGNC:30425) is a protein-coding gene on chromosome 11p15.4, encoding Signal peptide, CUB and EGF-like domain-containing protein 2 (Q9NQ36). Lipid-binding protein required for SHH long-range signaling by binding to the dually lipid-modified SHH (ShhNp) and by promoting ShhNp mobilization, solubilization and release from the cell membrane.
Predicted to enable calcium ion binding activity; hedgehog family protein binding activity; and lipid binding activity. Predicted to be involved in signal transduction. Predicted to act upstream of or within several processes, including chondrocyte differentiation involved in endochondral bone morphogenesis; positive regulation of chondrocyte proliferation; and positive regulation of osteoblast differentiation. Predicted to be located in extracellular region. Predicted to be active in cell surface and extracellular space.
Source: NCBI Gene 57758 — RefSeq curated summary.
At a glance
- GWAS associations: 4
- Clinical variants (ClinVar): 50 total
- MANE Select transcript:
NM_001367977
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:30425 |
| Approved symbol | SCUBE2 |
| Name | signal peptide, CUB domain and EGF like domain containing 2 |
| Location | 11p15.4 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | Cegf1, Cegb1, FLJ16792 |
| Ensembl gene | ENSG00000175356 |
| Ensembl biotype | protein_coding |
| OMIM | 611747 |
| Entrez | 57758 |
Gene structure
Transcript identifiers
Ensembl transcripts: 31 — 25 protein_coding, 3 retained_intron, 3 protein_coding_CDS_not_defined
ENST00000309263, ENST00000450649, ENST00000518447, ENST00000519202, ENST00000519535, ENST00000519788, ENST00000520467, ENST00000524317, ENST00000528651, ENST00000530265, ENST00000531429, ENST00000532532, ENST00000534295, ENST00000649792, ENST00000899093, ENST00000899094, ENST00000899095, ENST00000899096, ENST00000899097, ENST00000899098, ENST00000936074, ENST00000936075, ENST00000950241, ENST00000950242, ENST00000950243, ENST00000950244, ENST00000950245, ENST00000950246, ENST00000950247, ENST00000950248, ENST00000950249
RefSeq mRNA: 4 — MANE Select: NM_001367977
NM_001170690, NM_001330199, NM_001367977, NM_020974
CCDS: CCDS53599, CCDS7797, CCDS81553, CCDS91436
Canonical transcript exons
ENST00000649792 — 23 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001187336 | 9025702 | 9025854 |
| ENSE00001187338 | 9027364 | 9027561 |
| ENSE00001187350 | 9033626 | 9033796 |
| ENSE00001187354 | 9047356 | 9047562 |
| ENSE00001187358 | 9047943 | 9048098 |
| ENSE00001187363 | 9050606 | 9050710 |
| ENSE00001187366 | 9053099 | 9053215 |
| ENSE00001187368 | 9053637 | 9053759 |
| ENSE00001187371 | 9055793 | 9055909 |
| ENSE00001187373 | 9059303 | 9059425 |
| ENSE00001187376 | 9060408 | 9060524 |
| ENSE00001187379 | 9065891 | 9065980 |
| ENSE00001187382 | 9066697 | 9066813 |
| ENSE00001187388 | 9069370 | 9069495 |
| ENSE00001187392 | 9074481 | 9074615 |
| ENSE00001187394 | 9079384 | 9079509 |
| ENSE00001309105 | 9030758 | 9030925 |
| ENSE00001728446 | 9052746 | 9052832 |
| ENSE00002120071 | 9091396 | 9091599 |
| ENSE00003516780 | 9029884 | 9030045 |
| ENSE00003670189 | 9021876 | 9021955 |
| ENSE00003670491 | 9089707 | 9089829 |
| ENSE00003833113 | 9019476 | 9021197 |
Expression profiles
Bgee: expression breadth ubiquitous, 211 present calls, max score 93.75.
FANTOM5 (CAGE): breadth broad, TPM avg 3.5374 / max 81.5763, expressed in 322 samples.
FANTOM5 promoters (6 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 118539 | 1.9051 | 207 |
| 118538 | 0.9638 | 143 |
| 118541 | 0.3033 | 170 |
| 118540 | 0.2694 | 97 |
| 118537 | 0.0736 | 31 |
| 118542 | 0.0221 | 8 |
Top tissues by expression
275 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| corpus epididymis | UBERON:0004359 | 93.75 | gold quality |
| mammary duct | UBERON:0001765 | 92.86 | gold quality |
| epithelium of mammary gland | UBERON:0003244 | 92.12 | gold quality |
| right uterine tube | UBERON:0001302 | 92.02 | gold quality |
| prostate gland | UBERON:0002367 | 91.21 | gold quality |
| mucosa of urinary bladder | UBERON:0001259 | 91.08 | gold quality |
| urinary bladder | UBERON:0001255 | 90.68 | gold quality |
| thoracic mammary gland | UBERON:0005200 | 90.45 | gold quality |
| mammary gland | UBERON:0001911 | 90.36 | gold quality |
| adenohypophysis | UBERON:0002196 | 89.86 | gold quality |
| body of stomach | UBERON:0001161 | 89.79 | gold quality |
| pituitary gland | UBERON:0000007 | 89.64 | gold quality |
| ectocervix | UBERON:0012249 | 89.14 | gold quality |
| endocervix | UBERON:0000458 | 89.12 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 88.13 | gold quality |
| cartilage tissue | UBERON:0002418 | 87.66 | gold quality |
| body of pancreas | UBERON:0001150 | 87.60 | gold quality |
| stomach | UBERON:0000945 | 87.08 | gold quality |
| omental fat pad | UBERON:0010414 | 86.88 | gold quality |
| peritoneum | UBERON:0002358 | 86.84 | gold quality |
| adipose tissue of abdominal region | UBERON:0007808 | 86.70 | gold quality |
| subcutaneous adipose tissue | UBERON:0002190 | 86.48 | gold quality |
| decidua | UBERON:0002450 | 85.90 | gold quality |
| adipose tissue | UBERON:0001013 | 85.83 | gold quality |
| fundus of stomach | UBERON:0001160 | 85.53 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 85.32 | gold quality |
| connective tissue | UBERON:0002384 | 84.84 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 84.44 | gold quality |
| colonic epithelium | UBERON:0000397 | 84.35 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 84.28 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 6.70 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
40 targeting SCUBE2, 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-9-5P | 100.00 | 72.28 | 2361 |
| HSA-MIR-4531 | 99.99 | 69.70 | 3181 |
| HSA-MIR-3658 | 99.96 | 73.87 | 4379 |
| HSA-MIR-141-3P | 99.94 | 72.79 | 2421 |
| HSA-MIR-200A-3P | 99.94 | 72.68 | 2420 |
| HSA-MIR-4753-3P | 99.90 | 71.03 | 3786 |
| HSA-MIR-548E-5P | 99.89 | 72.73 | 4486 |
| HSA-MIR-6857-5P | 99.87 | 65.32 | 985 |
| HSA-MIR-548AC | 99.84 | 70.77 | 4351 |
| HSA-MIR-548H-3P | 99.84 | 70.80 | 4349 |
| HSA-MIR-548Z | 99.84 | 70.80 | 4349 |
| HSA-MIR-520F-3P | 99.82 | 71.32 | 1216 |
| HSA-MIR-6739-5P | 99.80 | 67.87 | 2806 |
| HSA-MIR-4766-5P | 99.75 | 69.23 | 2662 |
| HSA-MIR-6733-5P | 99.74 | 67.94 | 2759 |
| HSA-MIR-33A-3P | 99.70 | 70.27 | 3362 |
| HSA-MIR-298 | 99.63 | 67.56 | 1916 |
| HSA-MIR-4516 | 99.61 | 67.78 | 3390 |
| HSA-MIR-3153 | 99.55 | 67.59 | 2337 |
| HSA-MIR-143-3P | 99.49 | 69.05 | 1457 |
| HSA-MIR-4770 | 99.49 | 69.09 | 1451 |
| HSA-MIR-155-5P | 99.35 | 70.16 | 1509 |
| HSA-MIR-6088 | 99.29 | 68.45 | 1284 |
| HSA-MIR-7974 | 99.24 | 65.48 | 1137 |
| HSA-MIR-6780B-3P | 99.13 | 67.18 | 622 |
| HSA-MIR-4434 | 99.10 | 67.01 | 1984 |
| HSA-MIR-5703 | 99.10 | 67.09 | 2053 |
| HSA-MIR-4709-3P | 98.88 | 68.04 | 1594 |
| HSA-MIR-4742-3P | 98.73 | 69.82 | 1803 |
| HSA-MIR-12125 | 98.59 | 67.54 | 1044 |
Literature-anchored findings (GeneRIF, showing 22)
- identification as secreted protein that is expressed in vascular endothelium and may play important roles in development, inflammation, and thrombosis (PMID:12270931)
- Altered SCUBE2 expression is important in breast cancer progression and SCUBE2 may serve as a useful prognostic marker. (PMID:19369267)
- The full-length cDNA of human SCUBE2 was isolated and the role in the hedgehog signalling cascade, was studied. (PMID:19480626)
- Domain and functional analysis of a novel breast tumor suppressor protein, SCUBE2. (PMID:21652720)
- data suggest that signal peptide CUB domain (SCUBE2), like in breast cancer, associates with estrogen receptor alpha and might have a potential as prognostic or predictive marker in endometrial cancer (PMID:24053619)
- Via obligate assistance of Scube1 and 3, Scube2 plays a center role to recruit dually lipid-modified Hedgehog transferred from Dispatched A (DispA), increasing Hh secretion by promoting its solubility. (PMID:24084593)
- Tumor suppressor SCUBE2 inhibits breast-cancer cell migration and invasion through the reversal of epithelial-mesenchymal transition. (PMID:24213532)
- Sheddases and Scube2 act cooperatively to increase the pool of soluble bioactive Shh. (PMID:24522195)
- SCUBE2 expression was decreased at the transcriptional and translational levels in colorectal cancer tissues and significantly associated with clinical stage, the depth of tumor invasion, lymphnode metastasis, distant metastasis and histological grade. (PMID:25672935)
- Overexpression of SCUBE2 is associated with Breast Cancer Recurrence. (PMID:27165221)
- Results confirm that heparan sulfate (HS) proteoglycans enrich Scube2 at the surface of Shh-producing cells and that Scube2-regulated proteolytic Shh processing and release depends on specific HS. (PMID:27199253)
- The Sonic hedgehog (Shh) signaling pathway was involved in the inhibitory effect of SCUBE2 overexpression on glioma cells. (PMID:27697090)
- Endothelial SCUBE2 may be a novel coreceptor for VEGFR2 and potentiate VEGF-induced signaling in adult angiogenesis. (PMID:27834687)
- Overexpression of SCUBE2 inhibits non-small cell lung cancer cell proliferation and invasion through suppressing the Sonic hedgehog signaling pathway. (PMID:29883759)
- that SCUBE2 expression is upregulated in breast cancer stem cells, promote EMT and enhance TNBC metastasis by activating Notch signaling (PMID:29981340)
- this study reported for the first time that SCUBE2 methylation can be reversed by (-)-epigallocatechin-3-gallate treatment, finally resulting in the inhibition of breast cancer progression. (PMID:31404982)
- High SCUBE2 expression is associated with dyslipidemic type 2 diabetes mellitus. (PMID:31425950)
- The relationship of serum SCUBE-1, -2 and -3 levels with clinical findings and ultrasonographic skin thickness in systemic sclerosis patients. (PMID:31991528)
- Knockdown of long non-coding RNA PVT1 induces apoptosis of fibroblast-like synoviocytes through modulating miR-543-dependent SCUBE2 in rheumatoid arthritis. (PMID:32293498)
- Expression of SCUBE2 and BCL2 Predicts Favorable Response in ERalpha Positive Breast Cancer. (PMID:33878879)
- Knockdown of circ_0025908 inhibits proliferation, migration, invasion, and inflammation while stimulates apoptosis in fibroblast-like synoviocytes by regulating miR-650-dependent SCUBE2. (PMID:35904110)
- SCUBE2 mediates bone metastasis of luminal breast cancer by modulating immune-suppressive osteoblastic niches. (PMID:37142671)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | scube2 | ENSDARG00000037362 |
| mus_musculus | Scube2 | ENSMUSG00000007279 |
| rattus_norvegicus | Scube2 | ENSRNOG00000013123 |
Paralogs (2): SCUBE3 (ENSG00000146197), SCUBE1 (ENSG00000159307)
Protein
Protein identifiers
Signal peptide, CUB and EGF-like domain-containing protein 2 — Q9NQ36 (reviewed: Q9NQ36)
Alternative names: Protein CEGP1, Scube/You
All UniProt accessions (6): A0A3B3ISZ7, Q9NQ36, H0YD28, H0YDN3, H0YEB3, H0YEI5
UniProt curated annotations — full annotation on UniProt →
Function. Lipid-binding protein required for SHH long-range signaling by binding to the dually lipid-modified SHH (ShhNp) and by promoting ShhNp mobilization, solubilization and release from the cell membrane. Acts by enhancing the proteolytic processing (shedding) of the lipid-modified N- and C- terminal of ShhNp at the cell surface. Synergizes with DISP1 to increase SHH secretion. Probable cell surface coreceptor for VEGFR2 involved in VEGFR2-mediated angiogenesis.
Subunit / interactions. Forms homooligomers. Forms heterooligomers with SCUBE1. Forms heterooligomers with SCUBE3. Interacts with SHH via the cholesterol anchor of the dually lipid-modified SHH (ShhNp). Interacts with PTCH1. Interacts with VEGFR2.
Subcellular location. Secreted. Cell surface.
Tissue specificity. Expressed in a broad spectrum of adult tissues.
Post-translational modifications. N-glycosylated.
Domain organisation. The CUB domain is important for the interaction with the cholesterol-anchor of SHH. The CUB domain regulates protease recruitment and activation during SHH shedding.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9NQ36-1 | 1 | yes |
| Q9NQ36-2 | 2 | |
| Q9NQ36-3 | 3 |
RefSeq proteins (4): NP_001164161, NP_001317128, NP_001354906, NP_066025 (=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 (38 total): disulfide bond 14, domain 10, sequence variant 5, splice variant 4, signal peptide 1, chain 1, region of interest 1, glycosylation site 1, sequence conflict 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9NQ36-F1 | 72.78 | 0.07 |
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 (14): 49–62, 56–71, 73–84, 90–102, 98–111, 113–126, 368–378, 374–387, 389–401, 407–418, 414–427, 429–442, 809–835, 862–883
Glycosylation sites (1): 659
Function
Pathways and Gene Ontology
Reactome pathways
4 pathways
| ID | Pathway |
|---|---|
| R-HSA-5362798 | Release of Hh-Np from the secreting cell |
| R-HSA-162582 | Signal Transduction |
| R-HSA-5358346 | Hedgehog ligand biogenesis |
| R-HSA-5358351 | Signaling by Hedgehog |
MSigDB gene sets: 109 (showing top):
WANG_CLIM2_TARGETS_UP, JAEGER_METASTASIS_DN, BHATI_G2M_ARREST_BY_2METHOXYESTRADIOL_DN, AREB6_03, GOZGIT_ESR1_TARGETS_DN, MAZ_Q6, GOCC_CELL_SURFACE, SMID_BREAST_CANCER_RELAPSE_IN_LUNG_DN, CREIGHTON_ENDOCRINE_THERAPY_RESISTANCE_1, SMID_BREAST_CANCER_LUMINAL_B_UP, NF1_Q6_01, WTGAAAT_UNKNOWN, AACTTT_UNKNOWN, VANTVEER_BREAST_CANCER_POOR_PROGNOSIS, VECCHI_GASTRIC_CANCER_EARLY_DN
GO Biological Process (1): signal transduction (GO:0007165)
GO Molecular Function (3): calcium ion binding (GO:0005509), lipid binding (GO:0008289), protein binding (GO:0005515)
GO Cellular Component (3): extracellular region (GO:0005576), obsolete extracellular space (GO:0005615), cell surface (GO:0009986)
Reactome top-level categories
Rollup of top-3 pathways:
| Category | Pathways |
|---|---|
| Hedgehog ligand biogenesis | 1 |
| Signaling by Hedgehog | 1 |
| Signal Transduction | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| binding | 2 |
| cellular anatomical structure | 2 |
| cell communication | 1 |
| cellular process | 1 |
| signaling | 1 |
| regulation of cellular process | 1 |
| cellular response to stimulus | 1 |
| metal ion binding | 1 |
Protein interactions and networks
STRING
1207 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| SCUBE2 | DENND2B | P78523 | 839 |
| SCUBE2 | CTSV | O60911 | 697 |
| SCUBE2 | LMO1 | P25800 | 678 |
| SCUBE2 | GRB7 | Q14451 | 664 |
| SCUBE2 | CDON | Q4KMG0 | 629 |
| SCUBE2 | DISP1 | Q96F81 | 619 |
| SCUBE2 | MYBL2 | P10244 | 585 |
| SCUBE2 | MMP11 | P24347 | 578 |
| SCUBE2 | BAG1 | Q99933 | 574 |
| SCUBE2 | GATA3 | P23771 | 559 |
| SCUBE2 | HHAT | Q5VTY9 | 557 |
| SCUBE2 | AURKA | O14965 | 520 |
| SCUBE2 | SHH | Q15465 | 510 |
| SCUBE2 | GSTM1 | P09488 | 505 |
| SCUBE2 | CDH1 | P12830 | 480 |
IntAct
2 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| SYNPO | SCUBE2 | psi-mi:“MI:0915”(physical association) | 0.400 |
BioGRID (3): KDR (Affinity Capture-Western), SCUBE2 (Affinity Capture-Western), SYNPO (Affinity Capture-MS)
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: A0A6I8RMG7, A2AJ76, B3EWY9, B5DFC9, O35568, O77469, O88322, P10493, P14543, P41413, P48960, P98095, Q04592, Q09165, Q14112, Q19267, Q2KIT5, Q2Q421, Q2Q426, Q4G063, Q4V7F2, Q4V7M2, Q5EA46, Q5RBP1, Q5XH36, Q60438, Q6UXH1, Q6UXI9, Q7SXF6, Q7ZXL5, Q86XX4, Q8BPB5, Q8K4G1, Q8R4U0, Q8R4Y4, Q91XD7, Q96HD1, Q96RW7, Q9CYA0, Q9JJS0
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
50 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 45 |
| Likely benign | 2 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
4386 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 11:9021871:CTCA:C | donor_loss | 1.0000 |
| 11:9021872:TCA:T | donor_loss | 1.0000 |
| 11:9021873:CA:C | donor_loss | 1.0000 |
| 11:9021874:A:AT | donor_loss | 1.0000 |
| 11:9021875:C:CT | donor_loss | 1.0000 |
| 11:9021951:GTCCT:G | acceptor_gain | 1.0000 |
| 11:9021952:TCCT:T | acceptor_gain | 1.0000 |
| 11:9021953:CCTC:C | acceptor_gain | 1.0000 |
| 11:9021954:CT:C | acceptor_gain | 1.0000 |
| 11:9021954:CTCTG:C | acceptor_loss | 1.0000 |
| 11:9021955:TCTGT:T | acceptor_loss | 1.0000 |
| 11:9021956:C:CC | acceptor_gain | 1.0000 |
| 11:9021956:C:CG | acceptor_loss | 1.0000 |
| 11:9021957:T:A | acceptor_loss | 1.0000 |
| 11:9021959:T:C | acceptor_gain | 1.0000 |
| 11:9021959:T:TC | acceptor_gain | 1.0000 |
| 11:9024257:T:TA | donor_gain | 1.0000 |
| 11:9027362:A:AC | donor_gain | 1.0000 |
| 11:9027363:C:CC | donor_gain | 1.0000 |
| 11:9027399:T:TA | donor_gain | 1.0000 |
| 11:9029882:A:AC | donor_gain | 1.0000 |
| 11:9029883:C:CC | donor_gain | 1.0000 |
| 11:9029885:TTTAC:T | donor_gain | 1.0000 |
| 11:9029889:CA:C | donor_gain | 1.0000 |
| 11:9030042:TGAA:T | acceptor_gain | 1.0000 |
| 11:9030046:C:CC | acceptor_gain | 1.0000 |
| 11:9030063:G:C | acceptor_gain | 1.0000 |
| 11:9030063:G:GC | acceptor_gain | 1.0000 |
| 11:9030754:TCAC:T | donor_loss | 1.0000 |
| 11:9030755:CACC:C | donor_loss | 1.0000 |
AlphaMissense
6781 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 11:9021085:A:G | L987P | 1.000 |
| 11:9021163:A:G | L961P | 1.000 |
| 11:9021163:A:T | L961Q | 1.000 |
| 11:9021175:A:G | L957P | 1.000 |
| 11:9021880:A:G | L948P | 1.000 |
| 11:9021922:C:G | R934P | 1.000 |
| 11:9021925:A:T | V933D | 1.000 |
| 11:9021928:A:T | I932K | 1.000 |
| 11:9021940:A:G | L928P | 1.000 |
| 11:9025708:A:C | Y921D | 1.000 |
| 11:9025717:A:C | Y918D | 1.000 |
| 11:9025793:G:C | F892L | 1.000 |
| 11:9025793:G:T | F892L | 1.000 |
| 11:9025794:A:C | F892C | 1.000 |
| 11:9025794:A:G | F892S | 1.000 |
| 11:9025795:A:G | F892L | 1.000 |
| 11:9025797:G:T | A891D | 1.000 |
| 11:9027381:A:G | L866P | 1.000 |
| 11:9027435:A:G | L848P | 1.000 |
| 11:9027444:C:G | R845P | 1.000 |
| 11:9027469:A:G | W837R | 1.000 |
| 11:9027469:A:T | W837R | 1.000 |
| 11:9027475:A:G | C835R | 1.000 |
| 11:9021063:A:C | F994L | 0.999 |
| 11:9021063:A:T | F994L | 0.999 |
| 11:9021065:A:G | F994L | 0.999 |
| 11:9021096:G:C | F983L | 0.999 |
| 11:9021096:G:T | F983L | 0.999 |
| 11:9021097:A:C | F983C | 0.999 |
| 11:9021097:A:G | F983S | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000002302 (11:9071110 C>T), RS1000005310 (11:9059210 C>A,G), RS1000084338 (11:9059641 C>A,T), RS1000142630 (11:9019795 T>G), RS1000161568 (11:9054906 G>C), RS1000175494 (11:9020095 C>G,T), RS1000181222 (11:9068559 T>C), RS1000225911 (11:9021497 G>A), RS1000267209 (11:9058868 G>T), RS1000281364 (11:9065194 C>A,T), RS1000358642 (11:9059051 T>G), RS1000399756 (11:9071158 C>T), RS1000406572 (11:9027773 G>A), RS1000420617 (11:9092986 C>T), RS1000430695 (11:9071564 G>T)
Disease associations
OMIM: gene MIM:611747 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
4 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001800_2 | β2-Glycoprotein I (β2-GPI) plasma levels | 1.000000e-07 |
| GCST001800_3 | β2-Glycoprotein I (β2-GPI) plasma levels | 3.000000e-07 |
| GCST010278_7 | Hand grip strength (Mahalanobis distance) | 7.000000e-06 |
| GCST010703_171 | Brain morphology (MOSTest) | 5.000000e-09 |
EFO canonical traits (3, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004555 | glycoprotein measurement |
| EFO:0006941 | grip strength measurement |
| 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
35 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, decreases expression, affects expression | 7 |
| trichostatin A | affects cotreatment, decreases expression | 3 |
| bisphenol A | increases expression | 2 |
| mercuric bromide | decreases expression, affects cotreatment | 2 |
| entinostat | affects cotreatment, decreases expression | 2 |
| Panobinostat | affects cotreatment, decreases expression | 2 |
| Benzo(a)pyrene | increases expression, increases methylation | 2 |
| Nickel | decreases expression | 2 |
| Phenylmercuric Acetate | affects cotreatment, decreases expression | 2 |
| p-Chloromercuribenzoic Acid | decreases expression, affects cotreatment | 2 |
| aristolochic acid I | increases expression | 1 |
| methylmercuric chloride | decreases expression | 1 |
| tetrachlorodian | decreases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression | 1 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| bisphenol S | affects cotreatment, decreases expression | 1 |
| Arsenic Trioxide | decreases expression | 1 |
| Arsenic | affects methylation | 1 |
| Calcitriol | increases expression, affects cotreatment | 1 |
| Carbamazepine | affects expression | 1 |
| Cyclophosphamide | affects cotreatment, affects response to substance | 1 |
| Dexamethasone | affects cotreatment, decreases expression | 1 |
| Doxorubicin | affects cotreatment, affects response to substance | 1 |
| Estradiol | decreases expression | 1 |
| Ethinyl Estradiol | decreases expression | 1 |
| Fluorouracil | affects cotreatment, affects response to substance | 1 |
| Indomethacin | affects cotreatment, decreases expression | 1 |
| Silicon Dioxide | decreases expression | 1 |
| Testosterone | affects cotreatment, increases expression, decreases 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.