CREG1
gene geneOn this page
Summary
CREG1 (cellular repressor of E1A stimulated genes 1, HGNC:2351) is a protein-coding gene on chromosome 1q24.2, encoding Protein CREG1 (O75629). May contribute to the transcriptional control of cell growth and differentiation.
The adenovirus E1A protein both activates and represses gene expression to promote cellular proliferation and inhibit differentiation. The protein encoded by this gene antagonizes transcriptional activation and cellular transformation by E1A. This protein shares limited sequence similarity with E1A and binds both the general transcription factor TBP and the tumor suppressor pRb in vitro. This gene may contribute to the transcriptional control of cell growth and differentiation.
Source: NCBI Gene 8804 — RefSeq curated summary.
At a glance
- GWAS associations: 2
- Clinical variants (ClinVar): 45 total
- MANE Select transcript:
NM_003851
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:2351 |
| Approved symbol | CREG1 |
| Name | cellular repressor of E1A stimulated genes 1 |
| Location | 1q24.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000143162 |
| Ensembl biotype | protein_coding |
| OMIM | 618055 |
| Entrez | 8804 |
Gene structure
Transcript identifiers
Ensembl transcripts: 5 — 5 protein_coding
ENST00000370509, ENST00000466652, ENST00000856000, ENST00000856001, ENST00000856002
RefSeq mRNA: 1 — MANE Select: NM_003851
NM_003851
CCDS: CCDS1262
Canonical transcript exons
ENST00000370509 — 4 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000958440 | 167548002 | 167548121 |
| ENSE00000958441 | 167546101 | 167546285 |
| ENSE00001445787 | 167541013 | 167542301 |
| ENSE00001452907 | 167553388 | 167553762 |
Expression profiles
Bgee: expression breadth ubiquitous, 293 present calls, max score 99.54.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 103.2142 / max 2680.9930, expressed in 1819 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 15787 | 99.0080 | 1819 |
| 15788 | 4.1981 | 1494 |
| 15786 | 0.0081 | 3 |
Top tissues by expression
295 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| upper leg skin | UBERON:0004262 | 99.54 | gold quality |
| hair follicle | UBERON:0002073 | 99.41 | gold quality |
| mammalian vulva | UBERON:0000997 | 99.02 | gold quality |
| upper arm skin | UBERON:0004263 | 98.86 | gold quality |
| gall bladder | UBERON:0002110 | 98.64 | gold quality |
| parotid gland | UBERON:0001831 | 98.60 | gold quality |
| lower lobe of lung | UBERON:0008949 | 98.55 | gold quality |
| skin of hip | UBERON:0001554 | 98.50 | gold quality |
| gingival epithelium | UBERON:0001949 | 98.46 | gold quality |
| gingiva | UBERON:0001828 | 98.42 | gold quality |
| penis | UBERON:0000989 | 98.38 | gold quality |
| trabecular bone tissue | UBERON:0002483 | 98.38 | gold quality |
| right coronary artery | UBERON:0001625 | 98.25 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 98.25 | gold quality |
| mammary duct | UBERON:0001765 | 98.23 | gold quality |
| superficial temporal artery | UBERON:0001614 | 98.17 | gold quality |
| monocyte | CL:0000576 | 98.14 | gold quality |
| corpus epididymis | UBERON:0004359 | 98.10 | gold quality |
| right adrenal gland | UBERON:0001233 | 98.08 | gold quality |
| mononuclear cell | CL:0000842 | 98.06 | gold quality |
| left adrenal gland | UBERON:0001234 | 98.03 | gold quality |
| synovial joint | UBERON:0002217 | 98.03 | gold quality |
| epithelium of mammary gland | UBERON:0003244 | 98.01 | gold quality |
| adrenal cortex | UBERON:0001235 | 97.91 | gold quality |
| leukocyte | CL:0000738 | 97.87 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 97.87 | gold quality |
| mucosa of stomach | UBERON:0001199 | 97.84 | gold quality |
| decidua | UBERON:0002450 | 97.82 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 97.78 | gold quality |
| left coronary artery | UBERON:0001626 | 97.76 | gold quality |
Single-cell (SCXA)
Detected in 15 experiment(s), a significant marker in 11.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-7407 | yes | 1247.40 |
| E-MTAB-6701 | yes | 51.48 |
| E-CURD-122 | yes | 47.49 |
| E-HCAD-10 | yes | 41.54 |
| E-MTAB-6678 | yes | 41.13 |
| E-MTAB-10553 | yes | 28.22 |
| E-CURD-112 | yes | 21.36 |
| E-HCAD-13 | yes | 20.62 |
| E-HCAD-9 | yes | 20.52 |
| E-MTAB-9388 | yes | 6.26 |
| E-ENAD-17 | no | 42.10 |
| E-CURD-114 | no | 19.81 |
| E-MTAB-5061 | no | 3.80 |
| E-MTAB-9467 | no | 0.79 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: yes
Downstream targets (CollecTRI)
1 targets.
| Target | Regulation |
|---|---|
| HSPA4 | Repression |
Upstream regulators (CollecTRI, top): E2F4
miRNA regulators (miRDB)
87 targeting CREG1, 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-29A-3P | 100.00 | 73.11 | 1835 |
| HSA-MIR-29B-3P | 100.00 | 73.18 | 1833 |
| HSA-MIR-29C-3P | 100.00 | 73.15 | 1833 |
| HSA-MIR-6833-3P | 100.00 | 70.63 | 3197 |
| HSA-MIR-200B-3P | 100.00 | 73.31 | 2693 |
| HSA-MIR-200C-3P | 100.00 | 73.35 | 2685 |
| HSA-MIR-429 | 100.00 | 73.44 | 2698 |
| HSA-MIR-8485 | 100.00 | 77.57 | 4731 |
| HSA-MIR-4768-5P | 100.00 | 69.49 | 2861 |
| HSA-MIR-4682 | 100.00 | 68.89 | 1258 |
| HSA-MIR-12136 | 99.98 | 72.81 | 5713 |
| HSA-MIR-551B-5P | 99.96 | 71.28 | 3493 |
| HSA-MIR-3658 | 99.96 | 73.87 | 4379 |
| HSA-MIR-767-5P | 99.95 | 70.85 | 993 |
| HSA-MIR-1236-3P | 99.94 | 68.04 | 1695 |
| HSA-MIR-497-5P | 99.92 | 71.83 | 2674 |
| HSA-MIR-450B-5P | 99.92 | 71.48 | 3175 |
| HSA-MIR-6809-3P | 99.91 | 71.45 | 3814 |
| HSA-MIR-4753-3P | 99.90 | 71.03 | 3786 |
| HSA-MIR-15A-5P | 99.90 | 72.80 | 2787 |
| HSA-MIR-15B-5P | 99.90 | 72.78 | 2798 |
| HSA-MIR-16-5P | 99.90 | 72.80 | 2780 |
| HSA-MIR-195-5P | 99.90 | 72.81 | 2805 |
| HSA-MIR-424-5P | 99.89 | 71.90 | 2641 |
| HSA-MIR-6838-5P | 99.89 | 71.94 | 2690 |
| HSA-MIR-3663-3P | 99.84 | 70.39 | 798 |
| HSA-MIR-944 | 99.82 | 70.85 | 3042 |
| HSA-MIR-6515-3P | 99.82 | 68.19 | 1933 |
| HSA-MIR-3133 | 99.81 | 70.92 | 3506 |
| HSA-MIR-2052 | 99.79 | 69.37 | 2031 |
Literature-anchored findings (GeneRIF, showing 21)
- putative flavin mononucleotide-binding pocket in CREG is sterically blocked by a loop and several key bulky residues (PMID:16344469)
- CREG promotes a mature smooth muscle cell phenotype and reduces neointimal formation in balloon-injured rat carotid artery. (PMID:18267954)
- We demonstrate that CREG is expressed in the vascular endothelium; data suggests that CREG differentially regulates the growth of the denuded artery wall and smooth vascular muscle cell. (PMID:18472385)
- The expression of CREG improves cardiac functions and inhibits cardiac hypertrophy, inflammation and fibrosis through blocking MEK-ERK1/2-dependent signalling. (PMID:19413895)
- CREG plays a critical role in the inhibition of SMC migration, as well as maintaining SMCs in a mature phenotype (PMID:19769965)
- CREG plays a key role in modulating VSMC apoptosis through the p38 and JNK signal transduction pathways, both in vitro and in s (PMID:20060003)
- no ssociation between common variants of CREG and coronary artery disease in the northern Chinese Han population (PMID:20951690)
- Data suggest that soluble CREG protein can exert its biological function via glycosylation-independent binding to the extracellular domains 11-13 of cell surface M6P/IGF2R, modulating SMC phenotypic switching from contractile to proliferative. (PMID:21195083)
- Cooperation of CREG1 and p16 (INK4a) inhibits the expression of cyclin A and cyclin B by inhibiting promoter activity thereby decreasing mRNA and protein levels; these proteins are required for S-phase entry and G2/M transition. (PMID:21263217)
- CREG plays a critical role in protecting the vascular endothelium from apoptosis, and the protective effort of CREG against ECs apoptosis is through the activation of the VEGF/PI3K/AKT signaling pathway (PMID:21872252)
- Upregulation of CREG expression induced HUVEC migration. (PMID:21939655)
- Suggest that CREG is a novel adventitial fibroblast phenotypic modulator in a p38MAPK-dependent manner. (PMID:23040447)
- miR-31 not only directly binds to its target gene CREG and modulates the vascular smooth muscle cells(VSMC) phenotype through this interaction, but also can be an important biomarker in diseases involving VSMC phenotypic modulation. (PMID:23518389)
- CREG can inhibit NF-kappaB activation, TNF-alpha-induced inflammatory responses and the hyperpermeability of endothelial cells. (PMID:23580165)
- The results suggest a novel role of CREG to promote HUVEC proliferation through the ERK/cyclin E signaling pathway. (PMID:24018888)
- Results indicate that cellular repressor of E1A-stimulated gene 1 protein (CREG1) increases endothelial cell (EC) filopodia formation. (PMID:24896341)
- These results indicate that CREG1 is a down-stream effector of KRAS in a sub-type of non-small cell lung cancer cells and a novel candidate biomarker or therapeutic target for KRAS mutant non-small cell lung cancer. (PMID:26722374)
- Studies demonstrated that CREG may modulate homeostasis of vascular wall cells and inhibit inflammation of vascular tissue cells and macrophages. Mechanistically, CREG behaves like a typical soluble lysosomal protein that regulates the formation and maturation of lysosomes by modulating the small GTPase protein Rab7, to mediate autophagy in vascular vascular tissue cells. [review] (PMID:27784214)
- DNA hypermethylation: A novel mechanism of CREG gene suppression and atherosclerogenic endothelial dysfunction. (PMID:32067910)
- The role of CREG1 in megakaryocyte maturation and thrombocytopoiesis. (PMID:37496998)
- CREG1 deficiency impaired myoblast differentiation and skeletal muscle regeneration. (PMID:38272853)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| ENSDARG00000105154 | ||
| mus_musculus | Creg1 | ENSMUSG00000040713 |
| rattus_norvegicus | Creg1 | ENSRNOG00000003291 |
| drosophila_melanogaster | CREG | FBGN0025456 |
Paralogs (1): CREG2 (ENSG00000175874)
Protein
Protein identifiers
Protein CREG1 — O75629 (reviewed: O75629)
Alternative names: Cellular repressor of E1A-stimulated genes 1
All UniProt accessions (2): O75629, A0A3B3IRL2
UniProt curated annotations — full annotation on UniProt →
Function. May contribute to the transcriptional control of cell growth and differentiation. Antagonizes transcriptional activation and cellular transformation by the adenovirus E1A protein. The transcriptional control activity of cell growth requires interaction with IGF2R.
Subunit / interactions. Homodimer. Interacts with IGF2R; the interaction is dependent on glycosylation.
Subcellular location. Secreted.
Post-translational modifications. N-glycosylated.
Similarity. Belongs to the CREG family.
RefSeq proteins (1): NP_003842* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR012349 | Split_barrel_FMN-bd | Homologous_superfamily |
| IPR014631 | CREG | Family |
| IPR055343 | CREG_beta-barrel | Domain |
Pfam: PF13883
UniProt features (23 total): helix 10, strand 7, glycosylation site 3, signal peptide 1, chain 1, sequence conflict 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 1XHN | X-RAY DIFFRACTION | 1.95 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-O75629-F1 | 88.08 | 0.78 |
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 (3): 160, 193, 216
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-6798695 | Neutrophil degranulation |
MSigDB gene sets: 278 (showing top):
MULLIGHAN_NPM1_SIGNATURE_3_UP, REACTOME_INNATE_IMMUNE_SYSTEM, MODULE_169, GOBP_VACUOLE_ORGANIZATION, GOCC_SECRETORY_GRANULE, AAGCCAT_MIR135A_MIR135B, DACOSTA_UV_RESPONSE_VIA_ERCC3_UP, GOBP_VESICLE_MEDIATED_TRANSPORT, MODULE_16, SARRIO_EPITHELIAL_MESENCHYMAL_TRANSITION_DN, MODULE_75, RUTELLA_RESPONSE_TO_CSF2RB_AND_IL4_UP, GOMF_INSULIN_LIKE_GROWTH_FACTOR_RECEPTOR_BINDING, GOBP_VACUOLAR_ACIDIFICATION, RUTELLA_RESPONSE_TO_HGF_VS_CSF2RB_AND_IL4_DN
GO Biological Process (7): regulation of transcription by RNA polymerase II (GO:0006357), endocytosis (GO:0006897), autophagy (GO:0006914), lysosome organization (GO:0007040), lysosomal lumen acidification (GO:0007042), regulation of DNA-templated transcription (GO:0006355), negative regulation of DNA-templated transcription (GO:0045892)
GO Molecular Function (2): transcription corepressor activity (GO:0003714), insulin-like growth factor receptor binding (GO:0005159)
GO Cellular Component (9): extracellular region (GO:0005576), obsolete extracellular space (GO:0005615), transcription regulator complex (GO:0005667), lysosome (GO:0005764), endosome (GO:0005768), azurophil granule lumen (GO:0035578), extracellular exosome (GO:0070062), cytoplasm (GO:0005737), endomembrane system (GO:0012505)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Innate Immune System | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| regulation of DNA-templated transcription | 2 |
| DNA-templated transcription | 2 |
| transcription by RNA polymerase II | 1 |
| vesicle budding from membrane | 1 |
| membrane invagination | 1 |
| vesicle-mediated transport | 1 |
| import into cell | 1 |
| catabolic process | 1 |
| transmembrane transport | 1 |
| process utilizing autophagic mechanism | 1 |
| lytic vacuole organization | 1 |
| vacuolar acidification | 1 |
| regulation of gene expression | 1 |
| regulation of RNA biosynthetic process | 1 |
| negative regulation of RNA biosynthetic process | 1 |
| transcription coregulator activity | 1 |
| negative regulation of DNA-templated transcription | 1 |
| signaling receptor binding | 1 |
| protein-containing complex | 1 |
| lytic vacuole | 1 |
| endomembrane system | 1 |
| cytoplasmic vesicle | 1 |
| vacuolar lumen | 1 |
| secretory granule lumen | 1 |
| azurophil granule | 1 |
| extracellular vesicle | 1 |
| intracellular anatomical structure | 1 |
| vacuole | 1 |
| plasma membrane | 1 |
Protein interactions and networks
STRING
658 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| CREG1 | IGF2R | P11717 | 611 |
| CREG1 | M6PR | P20645 | 542 |
| CREG1 | CASP3 | P42574 | 478 |
| CREG1 | HLA-B | P01889 | 446 |
| CREG1 | FTL | P02792 | 442 |
| CREG1 | EXOC4 | Q96A65 | 434 |
| CREG1 | TBP | P20226 | 420 |
| CREG1 | MEGF6 | O75095 | 410 |
| CREG1 | A0A2R8YDH4 | A0A2R8YDH4 | 400 |
| CREG1 | EPDR1 | Q9UM22 | 398 |
| CREG1 | IFI30 | P13284 | 395 |
| CREG1 | TSKU | Q8WUA8 | 383 |
| CREG1 | CD46 | P15529 | 375 |
| CREG1 | MPZL2 | O60487 | 373 |
| CREG1 | PIR | O00625 | 373 |
IntAct
29 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| KBTBD7 | METTL15 | psi-mi:“MI:0914”(association) | 0.730 |
| AIRE | ALOX12B | psi-mi:“MI:0914”(association) | 0.530 |
| FBXO2 | TMEM131L | psi-mi:“MI:0914”(association) | 0.530 |
| Prdm16 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| ZBED1 | psi-mi:“MI:0914”(association) | 0.350 | |
| P | psi-mi:“MI:0914”(association) | 0.350 | |
| rep | ZNF609 | psi-mi:“MI:0914”(association) | 0.350 |
| ST7 | A2ML1 | psi-mi:“MI:0914”(association) | 0.350 |
| PTDSS1 | IGLL5 | psi-mi:“MI:0914”(association) | 0.350 |
| IGF2R | MANBA | psi-mi:“MI:0914”(association) | 0.350 |
| ZBED1 | SPAG9 | psi-mi:“MI:0914”(association) | 0.350 |
| CREG1 | HNRNPA1L2 | psi-mi:“MI:0914”(association) | 0.350 |
| MRM1 | RIMOC1 | psi-mi:“MI:0914”(association) | 0.350 |
| SH2D3A | A2ML1 | psi-mi:“MI:0914”(association) | 0.350 |
| PCP4 | A2ML1 | psi-mi:“MI:0914”(association) | 0.350 |
| HSPA8 | PLEKHG3 | psi-mi:“MI:0914”(association) | 0.350 |
| RPL7L1 | A2ML1 | psi-mi:“MI:0914”(association) | 0.350 |
| TCEAL9 | TGM5 | psi-mi:“MI:0914”(association) | 0.350 |
| THY1 | CREG1 | psi-mi:“MI:0914”(association) | 0.350 |
| INSR | RIMOC1 | psi-mi:“MI:0914”(association) | 0.350 |
| ARHGAP32 | psi-mi:“MI:2364”(proximity) | 0.270 | |
| glyA | CREG1 | psi-mi:“MI:0915”(physical association) | 0.000 |
| purT | CREG1 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (33): CREG1 (Synthetic Lethality), CREG1 (Affinity Capture-MS), CREG1 (Affinity Capture-MS), CREG1 (Affinity Capture-MS), CREG1 (Affinity Capture-MS), CREG1 (Reconstituted Complex), DLD (Co-fractionation), GRHPR (Co-fractionation), PMPCA (Co-fractionation), TPI1 (Co-fractionation), CREG1 (Co-fractionation), CREG1 (Affinity Capture-MS), TBP (Reconstituted Complex), RB1 (Reconstituted Complex), RBL1 (Reconstituted Complex)
ESM2 similar proteins: A0JJZ6, G1T7U7, H0VCJ6, O08841, O35448, O70489, O75629, O88668, P09531, P13284, P68827, Q02083, Q0J6H8, Q0P5H1, Q10S70, Q1JQA0, Q3SZL5, Q5M872, Q5VSG8, Q5XI31, Q5ZJ73, Q5ZMM1, Q65XS5, Q67WE2, Q69ZQ1, Q6NSJ0, Q6P1J0, Q6PD26, Q6W3E9, Q6W3F0, Q6YX89, Q6ZIF9, Q75UG4, Q7X6J9, Q7Z4N8, Q84TW8, Q8BGC9, Q8BJ48, Q8BMS2, Q8C255
Diamond homologs: O75629, O88668, Q5ZJ73, Q8BGC9, Q8IUH2
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
45 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 39 |
| Likely benign | 2 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
404 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 1:167546099:A:AC | donor_gain | 1.0000 |
| 1:167546100:C:CT | donor_gain | 1.0000 |
| 1:167546100:CTGA:C | donor_gain | 1.0000 |
| 1:167546100:CTGAA:C | donor_gain | 1.0000 |
| 1:167547997:CTTA:C | donor_loss | 1.0000 |
| 1:167547998:TTACC:T | donor_loss | 1.0000 |
| 1:167547999:TA:T | donor_loss | 1.0000 |
| 1:167548000:A:C | donor_loss | 1.0000 |
| 1:167548000:AC:A | donor_gain | 1.0000 |
| 1:167548001:C:G | donor_loss | 1.0000 |
| 1:167548001:CC:C | donor_gain | 1.0000 |
| 1:167548117:TTCTC:T | acceptor_gain | 1.0000 |
| 1:167548119:CTC:C | acceptor_gain | 1.0000 |
| 1:167548122:C:CC | acceptor_gain | 1.0000 |
| 1:167548122:CT:C | acceptor_loss | 1.0000 |
| 1:167548123:T:C | acceptor_loss | 1.0000 |
| 1:167553382:GCTCA:G | donor_loss | 1.0000 |
| 1:167553383:CTCAC:C | donor_loss | 1.0000 |
| 1:167553384:TCACC:T | donor_loss | 1.0000 |
| 1:167553386:A:AG | donor_loss | 1.0000 |
| 1:167553387:C:CG | donor_loss | 1.0000 |
| 1:167544342:A:C | acceptor_gain | 0.9900 |
| 1:167546093:GTAC:G | donor_loss | 0.9900 |
| 1:167546094:TAC:T | donor_loss | 0.9900 |
| 1:167546095:ACTT:A | donor_loss | 0.9900 |
| 1:167546096:C:G | donor_loss | 0.9900 |
| 1:167546096:CTTA:C | donor_gain | 0.9900 |
| 1:167546097:T:TC | donor_loss | 0.9900 |
| 1:167546098:T:TC | donor_loss | 0.9900 |
| 1:167546099:A:T | donor_loss | 0.9900 |
AlphaMissense
1409 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 1:167553418:G:C | S108R | 0.990 |
| 1:167553418:G:T | S108R | 0.990 |
| 1:167553420:T:G | S108R | 0.990 |
| 1:167548072:C:G | C135S | 0.988 |
| 1:167548073:A:T | C135S | 0.988 |
| 1:167548072:C:T | C135Y | 0.987 |
| 1:167553566:G:T | A59D | 0.987 |
| 1:167546119:T:C | Y214C | 0.986 |
| 1:167548036:C:G | C147S | 0.986 |
| 1:167548036:C:T | C147Y | 0.986 |
| 1:167548037:A:G | C147R | 0.986 |
| 1:167548037:A:T | C147S | 0.986 |
| 1:167548035:A:C | C147W | 0.985 |
| 1:167548102:A:G | L125P | 0.985 |
| 1:167546217:C:A | W181C | 0.984 |
| 1:167546217:C:G | W181C | 0.984 |
| 1:167553466:G:C | S92R | 0.984 |
| 1:167553466:G:T | S92R | 0.984 |
| 1:167553468:T:G | S92R | 0.984 |
| 1:167553537:C:G | G69R | 0.984 |
| 1:167546119:T:G | Y214S | 0.983 |
| 1:167546120:A:G | Y214H | 0.983 |
| 1:167548015:C:T | G154E | 0.983 |
| 1:167546237:G:C | H175D | 0.982 |
| 1:167548071:G:C | C135W | 0.982 |
| 1:167546151:A:C | F203L | 0.980 |
| 1:167546151:A:T | F203L | 0.980 |
| 1:167546153:A:G | F203L | 0.980 |
| 1:167546201:A:G | W187R | 0.980 |
| 1:167546201:A:T | W187R | 0.980 |
dbSNP variants (sampled 300 via entrez): RS1000227556 (1:167541948 C>T), RS1000377383 (1:167550937 A>C), RS1000587843 (1:167540515 T>C), RS1000674168 (1:167549067 C>A), RS1000695313 (1:167546839 T>C), RS1000738647 (1:167548403 A>G), RS1000748328 (1:167550683 G>A), RS1000784733 (1:167553151 G>A), RS1000853424 (1:167552765 G>C,T), RS1001116064 (1:167549434 G>A), RS1001326375 (1:167544087 A>G), RS1001344136 (1:167549758 C>T), RS1001365205 (1:167544340 A>G), RS1001550817 (1:167555445 C>G), RS1001576168 (1:167550140 C>T)
Disease associations
OMIM: gene MIM:618055 | 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 |
|---|---|---|
| GCST006585_503 | Blood protein levels | 5.000000e-28 |
| GCST009798_40 | Asthma | 8.000000e-11 |
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 |
|---|---|---|
| Valproic Acid | affects cotreatment, increases expression, affects expression | 8 |
| Tretinoin | increases expression | 3 |
| bisphenol A | increases expression, affects expression | 2 |
| mercuric bromide | increases expression, affects cotreatment | 2 |
| Arsenic | increases abundance, increases expression, increases response to substance, affects cotreatment | 2 |
| Benzo(a)pyrene | affects methylation, increases expression, increases methylation | 2 |
| Doxorubicin | affects response to substance, decreases expression | 2 |
| Estradiol | affects cotreatment, increases expression, decreases expression | 2 |
| Phenylmercuric Acetate | affects cotreatment, increases expression | 2 |
| Smoke | decreases expression | 2 |
| dicrotophos | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| sulforaphane | increases expression | 1 |
| sodium arsenite | affects cotreatment, increases abundance, increases expression | 1 |
| manganese chloride | affects cotreatment, increases abundance, increases expression | 1 |
| cadmium acetate | decreases expression | 1 |
| dibenzo(a,l)pyrene | decreases expression | 1 |
| tamibarotene | increases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| entinostat | increases expression | 1 |
| fenpyroximate | increases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression | 1 |
| thifluzamide | increases expression | 1 |
| abrine | decreases expression | 1 |
| dorsomorphin | increases expression, affects cotreatment | 1 |
| Temozolomide | decreases expression | 1 |
| Vorinostat | increases expression | 1 |
| Ethanol | increases expression, affects cotreatment, increases abundance | 1 |
| Antimycin A | 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.