MFAP2
gene geneOn this page
Also known as MAGPMAGP-1
Summary
MFAP2 (microfibril associated protein 2, HGNC:7033) is a protein-coding gene on chromosome 1p36.13, encoding Microfibrillar-associated protein 2 (P55001). Component of the elastin-associated microfibrils.
Microfibrillar-associated protein 2 is a major antigen of elastin-associated microfibrils and a candidate for involvement in the etiology of inherited connective tissue diseases. Four transcript variants encoding two different isoforms have been found for this gene.
Source: NCBI Gene 4237 — RefSeq curated summary.
At a glance
- GWAS associations: 65
- Clinical variants (ClinVar): 40 total
- MANE Select transcript:
NM_002403
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:7033 |
| Approved symbol | MFAP2 |
| Name | microfibril associated protein 2 |
| Location | 1p36.13 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | MAGP, MAGP-1 |
| Ensembl gene | ENSG00000117122 |
| Ensembl biotype | protein_coding |
| OMIM | 156790 |
| Entrez | 4237 |
Gene structure
Transcript identifiers
Ensembl transcripts: 26 — 22 protein_coding, 4 protein_coding_CDS_not_defined
ENST00000375534, ENST00000375535, ENST00000476788, ENST00000478684, ENST00000490075, ENST00000492598, ENST00000884385, ENST00000884386, ENST00000884387, ENST00000884388, ENST00000884389, ENST00000930328, ENST00000930329, ENST00000930330, ENST00000930331, ENST00000930332, ENST00000930333, ENST00000930334, ENST00000930335, ENST00000930336, ENST00000930337, ENST00000930338, ENST00000930339, ENST00000930340, ENST00000930341, ENST00000954861
RefSeq mRNA: 4 — MANE Select: NM_002403
NM_001135247, NM_001135248, NM_002403, NM_017459
CCDS: CCDS174, CCDS44071
Canonical transcript exons
ENST00000375535 — 9 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001925438 | 16980587 | 16980620 |
| ENSE00003480746 | 16976897 | 16976923 |
| ENSE00003487163 | 16975269 | 16975342 |
| ENSE00003540338 | 16975643 | 16975730 |
| ENSE00003545261 | 16977109 | 16977198 |
| ENSE00003625320 | 16976501 | 16976545 |
| ENSE00003644006 | 16978237 | 16978314 |
| ENSE00003664286 | 16976708 | 16976794 |
| ENSE00003689974 | 16974502 | 16975023 |
Expression profiles
Bgee: expression breadth ubiquitous, 132 present calls, max score 98.65.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 57.8569 / max 585.1303, expressed in 1276 samples.
FANTOM5 promoters (6 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 10558 | 47.6157 | 1235 |
| 10562 | 6.2216 | 662 |
| 10559 | 2.1679 | 876 |
| 10557 | 0.7320 | 436 |
| 10560 | 0.7288 | 287 |
| 10561 | 0.3909 | 217 |
Top tissues by expression
134 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| stromal cell of endometrium | CL:0002255 | 98.65 | gold quality |
| ventricular zone | UBERON:0003053 | 97.79 | gold quality |
| gall bladder | UBERON:0002110 | 97.38 | gold quality |
| endocervix | UBERON:0000458 | 96.96 | gold quality |
| right coronary artery | UBERON:0001625 | 96.37 | gold quality |
| ganglionic eminence | UBERON:0004023 | 96.34 | gold quality |
| placenta | UBERON:0001987 | 95.72 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 95.67 | gold quality |
| thoracic aorta | UBERON:0001515 | 95.30 | gold quality |
| ascending aorta | UBERON:0001496 | 95.28 | gold quality |
| body of uterus | UBERON:0009853 | 95.05 | gold quality |
| ectocervix | UBERON:0012249 | 94.54 | gold quality |
| mucosa of stomach | UBERON:0001199 | 94.49 | gold quality |
| left coronary artery | UBERON:0001626 | 94.29 | gold quality |
| uterine cervix | UBERON:0000002 | 93.85 | gold quality |
| myometrium | UBERON:0001296 | 92.79 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 92.46 | gold quality |
| right ovary | UBERON:0002118 | 92.28 | gold quality |
| vagina | UBERON:0000996 | 92.14 | gold quality |
| ovary | UBERON:0000992 | 92.08 | gold quality |
| left ovary | UBERON:0002119 | 92.00 | gold quality |
| left uterine tube | UBERON:0001303 | 91.79 | gold quality |
| popliteal artery | UBERON:0002250 | 91.25 | gold quality |
| tibial artery | UBERON:0007610 | 91.24 | gold quality |
| subcutaneous adipose tissue | UBERON:0002190 | 91.12 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 90.87 | gold quality |
| adipose tissue | UBERON:0001013 | 89.82 | gold quality |
| skin of leg | UBERON:0001511 | 89.54 | gold quality |
| fallopian tube | UBERON:0003889 | 88.74 | gold quality |
| zone of skin | UBERON:0000014 | 88.60 | gold quality |
Single-cell (SCXA)
Detected in 8 experiment(s), a significant marker in 7.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-9154 | yes | 417.10 |
| E-MTAB-6701 | yes | 57.76 |
| E-HCAD-10 | yes | 46.34 |
| E-MTAB-8410 | yes | 38.43 |
| E-MTAB-6678 | yes | 17.62 |
| E-ANND-3 | yes | 15.68 |
| E-MTAB-10042 | yes | 8.03 |
| E-CURD-95 | no | 59.39 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
19 targeting MFAP2, 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-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-4692 | 100.00 | 67.32 | 2066 |
| HSA-MIR-568 | 99.98 | 69.86 | 2084 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-548AJ-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-548X-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-548J-3P | 99.94 | 72.61 | 4881 |
| HSA-MIR-548AE-3P | 99.93 | 72.66 | 4867 |
| HSA-MIR-548AH-3P | 99.93 | 72.54 | 4872 |
| HSA-MIR-548AM-3P | 99.93 | 72.54 | 4872 |
| HSA-MIR-548AQ-3P | 99.93 | 72.66 | 4867 |
| HSA-MIR-6835-3P | 99.93 | 70.49 | 2904 |
| HSA-MIR-498-3P | 99.91 | 71.27 | 1114 |
| HSA-MIR-8065 | 99.19 | 70.38 | 1289 |
| HSA-MIR-6770-5P | 98.97 | 66.76 | 1853 |
| HSA-MIR-3149 | 98.77 | 67.13 | 1639 |
| HSA-MIR-12120 | 98.05 | 68.44 | 1768 |
| HSA-MIR-6872-3P | 97.08 | 66.99 | 750 |
| HSA-MIR-3943 | 95.87 | 64.57 | 523 |
Literature-anchored findings (GeneRIF, showing 14)
- These results demonstrate that microfibril-associated glycoprotein-1 is capable of cumulative binding to distinct regions on tropoelastin, with different apparent dissociation constants and different amounts of bound protein. (PMID:15233806)
- microfibrillar proteins MAGP-1 and MAGP-2 can function outside of their role in elastic fibers to activate a cellular signaling pathway (PMID:16492672)
- Study suggests a dual role for MAGP1, with extracellular MAGP1A involved in ECM function, and intracellular MAGP1B modulating the expression of genes that function in cell adhesion, migration and control of ECM deposition. (PMID:17692555)
- Demonstrate specific immunolocalization of fibrillin-1, MAGP-1, and LTBP-1 with elastin in the outer annulus fibrosus of the fetal human intravertebral disc. (PMID:21540769)
- Decreased MFAP2 gene expression in the endometrium of patients with implantation failure after in vitro ertilization treatment. (PMID:22885067)
- Our characterization of alternative forms of MAGP2 present in the extracellular space not only enhances diversity of this ECM protein but also provides a previously unrecognized molecular mechanism for regulation of MAGP2 biological activity. (PMID:23201136)
- Data show that MAGP-1, component of the extracellular matrix interact with fibrillin and impart unique biological properties that influence microfibril function. Mutations in MAGP-1 have been linked to thoracic aneurysms and metabolic diseases and mice lacking either one have defects in multiple organ systems, reflecting the widespread distribution of microfibrils in vertebrate tissues. [review] (PMID:29524629)
- Integrated profiling identifies SLC5A6 and MFAP2 as novel diagnostic and prognostic biomarkers in gastric cancer patients. (PMID:31894266)
- MFAP2 Promotes the Proliferation of Cancer Cells and Is Associated With a Poor Prognosis in Hepatocellular Carcinoma. (PMID:33280519)
- Genome-Scale Analysis Identified NID2, SPARC, and MFAP2 as Prognosis Markers of Overall Survival in Gastric Cancer. (PMID:33758160)
- Decreased Levels of Microfibril-Associated Glycoprotein (MAGP)-1 in Patients with Colon Cancer and Obesity Are Associated with Changes in Extracellular Matrix Remodelling. (PMID:34445187)
- MFAP2 aggravates tumor progression through activating FOXM1/beta-catenin-mediated glycolysis in ovarian cancer. (PMID:35546486)
- MAGP1 maintains tumorigenicity and angiogenesis of laryngeal cancer by activating Wnt/beta-catenin/MMP7 pathway. (PMID:36645203)
- MFAP2 promotes the progression of oral squamous cell carcinoma by activating the Wnt/beta-catenin signaling pathway through autophagy. (PMID:37592847)
Cross-species orthologs
2 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Mfap2 | ENSMUSG00000060572 |
| rattus_norvegicus | Mfap2 | ENSRNOG00000008257 |
Paralogs (1): MFAP5 (ENSG00000197614)
Protein
Protein identifiers
Microfibrillar-associated protein 2 — P55001 (reviewed: P55001)
Alternative names: Microfibril-associated glycoprotein 1
All UniProt accessions (1): P55001
UniProt curated annotations — full annotation on UniProt →
Function. Component of the elastin-associated microfibrils.
Subunit / interactions. Forms a ternary complex with BGN and ELN. Interacts with FBN1 (via N-terminal domain) and FBN2.
Subcellular location. Secreted. Extracellular space. Extracellular matrix.
Post-translational modifications. Forms intermolecular disulfide bonds either with other MAGP-1 molecules or with other components of the microfibrils. May form transglutaminase cross-links. O-glycosylated.
Similarity. Belongs to the MFAP family.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| P55001-1 | A | yes |
| P55001-2 | A' | |
| P55001-3 | B |
RefSeq proteins (4): NP_001128719, NP_001128720, NP_002394, NP_059453 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR003582 | ShKT_dom | Domain |
| IPR008673 | MAGP | Family |
Pfam: PF05507
UniProt features (14 total): modified residue 4, disulfide bond 3, splice variant 2, signal peptide 1, chain 1, domain 1, region of interest 1, compositionally biased region 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P55001-F1 | 69.04 | 0.38 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Post-translational modifications (4): 18, 47, 48, 50
Disulfide bonds (3): 160–176, 169–180, 153–183
Function
Pathways and Gene Ontology
Reactome pathways
3 pathways
| ID | Pathway |
|---|---|
| R-HSA-1566948 | Elastic fibre formation |
| R-HSA-2129379 | Molecules associated with elastic fibres |
| R-HSA-1474244 | Extracellular matrix organization |
MSigDB gene sets: 177 (showing top):
GOBP_MYELOID_CELL_DIFFERENTIATION, GSE18804_SPLEEN_MACROPHAGE_VS_COLON_TUMORAL_MACROPHAGE_UP, TGGTGCT_MIR29A_MIR29B_MIR29C, MODULE_52, DORN_ADENOVIRUS_INFECTION_12HR_UP, ZHAN_MULTIPLE_MYELOMA_MF_UP, MODULE_45, BILD_HRAS_ONCOGENIC_SIGNATURE, MODULE_118, GOBP_ANIMAL_ORGAN_MORPHOGENESIS, MYOD_01, GOBP_EMBRYONIC_ORGAN_MORPHOGENESIS, GOMF_EXTRACELLULAR_MATRIX_STRUCTURAL_CONSTITUENT, YANG_BREAST_CANCER_ESR1_DN, GOBP_PLATELET_MORPHOGENESIS
GO Biological Process (4): platelet formation (GO:0030220), embryonic eye morphogenesis (GO:0048048), post-embryonic eye morphogenesis (GO:0048050), positive regulation of cold-induced thermogenesis (GO:0120162)
GO Molecular Function (4): fibronectin binding (GO:0001968), fibrinogen binding (GO:0070051), extracellular matrix structural constituent (GO:0005201), protein binding (GO:0005515)
GO Cellular Component (3): microfibril (GO:0001527), extracellular region (GO:0005576), extracellular matrix (GO:0031012)
Reactome top-level categories
Rollup of top-2 pathways:
| Category | Pathways |
|---|---|
| Extracellular matrix organization | 1 |
| Elastic fibre formation | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| eye morphogenesis | 2 |
| myeloid cell differentiation | 1 |
| platelet morphogenesis | 1 |
| anatomical structure formation involved in morphogenesis | 1 |
| embryonic organ morphogenesis | 1 |
| positive regulation of multicellular organismal process | 1 |
| cold-induced thermogenesis | 1 |
| regulation of cold-induced thermogenesis | 1 |
| protein binding | 1 |
| protein-containing complex binding | 1 |
| structural molecule activity | 1 |
| extracellular matrix | 1 |
| binding | 1 |
| elastic fiber | 1 |
| supramolecular fiber | 1 |
| cellular anatomical structure | 1 |
| external encapsulating structure | 1 |
Protein interactions and networks
STRING
804 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| MFAP2 | FBN1 | P35555 | 993 |
| MFAP2 | ELN | P15502 | 991 |
| MFAP2 | DCN | P07585 | 953 |
| MFAP2 | FBN2 | P35556 | 948 |
| MFAP2 | MFAP1 | P55081 | 912 |
| MFAP2 | MFAP3 | P55082 | 889 |
| MFAP2 | BGN | P13247 | 794 |
| MFAP2 | LOX | P28300 | 769 |
| MFAP2 | FBLN5 | Q9UBX5 | 723 |
| MFAP2 | MFAP5 | Q13361 | 703 |
| MFAP2 | LOXL1 | Q08397 | 664 |
| MFAP2 | LTBP2 | Q14767 | 643 |
| MFAP2 | FBLN1 | P23142 | 634 |
| MFAP2 | FBLN2 | P98095 | 616 |
| MFAP2 | FN1 | P02751 | 611 |
IntAct
5 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| HOXA1 | MFAP2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| DDX3Y | psi-mi:“MI:0914”(association) | 0.350 | |
| HOXA1 | MFAP2 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (8): MFAP2 (Affinity Capture-MS), MFAP2 (Two-hybrid), BGN (Reconstituted Complex), MFAP2 (Reconstituted Complex), COL4A3 (Reconstituted Complex), MFAP2 (Affinity Capture-MS), MFAP2 (Proximity Label-MS), MFAP2 (Proximity Label-MS)
ESM2 similar proteins: A0A088MLT8, A0JPH4, A2A8U2, A2ATD1, A6QLD2, B1AKI9, B1AL88, B3KU38, O14525, O35757, O75129, P0DPB3, P0DPB4, P12755, P17863, P27424, P49140, P55001, P55002, P85299, P97953, Q3V1G4, Q58CS8, Q5EGE1, Q5QQ56, Q5QQ57, Q60698, Q61137, Q68BL8, Q6DVA0, Q6L8S8, Q6L9W6, Q6S5C2, Q6ZWB6, Q80U62, Q80Z10, Q812A5, Q86Y38, Q8CCS2, Q8JG33
Diamond homologs: P27424, P55001, P55002, Q13361, Q28022, Q9QZJ6
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
40 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 23 |
| Likely benign | 1 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
881 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 1:16975343:C:CC | acceptor_gain | 1.0000 |
| 1:16975731:C:CC | acceptor_gain | 1.0000 |
| 1:16976549:G:GC | acceptor_gain | 1.0000 |
| 1:16976790:CACCT:C | acceptor_gain | 1.0000 |
| 1:16976795:C:CC | acceptor_gain | 1.0000 |
| 1:16976802:C:CT | acceptor_gain | 1.0000 |
| 1:16976802:C:T | acceptor_gain | 1.0000 |
| 1:16976803:A:T | acceptor_gain | 1.0000 |
| 1:16977108:CCGAT:C | donor_gain | 1.0000 |
| 1:16978232:CTTA:C | donor_loss | 1.0000 |
| 1:16978233:TTA:T | donor_loss | 1.0000 |
| 1:16978234:TA:T | donor_loss | 1.0000 |
| 1:16978235:A:AC | donor_gain | 1.0000 |
| 1:16978236:C:CC | donor_gain | 1.0000 |
| 1:16978236:CCAGG:C | donor_gain | 1.0000 |
| 1:16975263:TCCTA:T | donor_loss | 0.9900 |
| 1:16975264:CCTAC:C | donor_loss | 0.9900 |
| 1:16975265:CTACC:C | donor_loss | 0.9900 |
| 1:16975266:TACC:T | donor_loss | 0.9900 |
| 1:16975267:A:T | donor_loss | 0.9900 |
| 1:16975268:C:CA | donor_loss | 0.9900 |
| 1:16975341:GG:G | acceptor_gain | 0.9900 |
| 1:16975344:T:C | acceptor_loss | 0.9900 |
| 1:16975637:GCTCA:G | donor_loss | 0.9900 |
| 1:16975639:TCACC:T | donor_loss | 0.9900 |
| 1:16975641:A:T | donor_loss | 0.9900 |
| 1:16975727:CAGT:C | acceptor_gain | 0.9900 |
| 1:16975729:GT:G | acceptor_gain | 0.9900 |
| 1:16975732:T:G | acceptor_loss | 0.9900 |
| 1:16976545:TC:T | acceptor_loss | 0.9900 |
AlphaMissense
1198 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 1:16975307:C:G | C137S | 0.999 |
| 1:16975307:C:T | C137Y | 0.999 |
| 1:16975308:A:T | C137S | 0.999 |
| 1:16975014:C:G | C153S | 0.998 |
| 1:16975015:A:G | C153R | 0.998 |
| 1:16975015:A:T | C153S | 0.998 |
| 1:16975292:C:G | C142S | 0.998 |
| 1:16975293:A:T | C142S | 0.998 |
| 1:16975306:A:C | C137W | 0.998 |
| 1:16975308:A:G | C137R | 0.998 |
| 1:16975705:G:C | C104W | 0.998 |
| 1:16975706:C:G | C104S | 0.998 |
| 1:16975706:C:T | C104Y | 0.998 |
| 1:16975707:A:G | C104R | 0.998 |
| 1:16975707:A:T | C104S | 0.998 |
| 1:16975712:T:C | Y102C | 0.998 |
| 1:16975292:C:T | C142Y | 0.997 |
| 1:16975293:A:G | C142R | 0.997 |
| 1:16975301:C:G | R139P | 0.997 |
| 1:16975307:C:A | C137F | 0.997 |
| 1:16975700:C:G | R106P | 0.997 |
| 1:16975013:A:C | C153W | 0.996 |
| 1:16975014:C:T | C153Y | 0.996 |
| 1:16975291:A:C | C142W | 0.996 |
| 1:16975653:A:G | C122R | 0.996 |
| 1:16975694:T:C | Y108C | 0.996 |
| 1:16975695:A:C | Y108D | 0.996 |
| 1:16975697:A:G | L107P | 0.996 |
| 1:16975701:G:T | R106S | 0.996 |
| 1:16975706:C:A | C104F | 0.996 |
dbSNP variants (sampled 300 via entrez): RS1000041067 (1:16979759 C>G,T), RS1000159405 (1:16978992 T>C), RS1000317852 (1:16978799 A>C), RS1001165953 (1:16980849 C>T), RS1001446802 (1:16981203 G>A), RS1001548947 (1:16980147 T>A,G), RS1001896440 (1:16980928 T>G), RS1001982371 (1:16974305 C>T), RS1002063425 (1:16979891 C>A), RS1002248346 (1:16974974 G>A,T), RS1002482617 (1:16975601 C>G), RS1002664969 (1:16981313 G>T), RS1003517931 (1:16976203 G>A,C), RS1003642549 (1:16982147 A>C), RS1003673 (1:16978753 C>T)
Disease associations
OMIM: gene MIM:156790 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
65 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000817_113 | Height | 4.000000e-29 |
| GCST001248_3 | Pulmonary function | 8.000000e-16 |
| GCST001784_26 | Pulmonary function (smoking interaction) | 2.000000e-11 |
| GCST001956_54 | Height | 5.000000e-15 |
| GCST002647_5 | Height | 1.000000e-40 |
| GCST002702_24 | Height | 2.000000e-25 |
| GCST004063_107 | Waist circumference adjusted for body mass index | 3.000000e-08 |
| GCST004063_135 | Waist circumference adjusted for body mass index | 9.000000e-12 |
| GCST004063_95 | Waist circumference adjusted for body mass index | 4.000000e-16 |
| GCST004185_47 | Lung function (FEV1/FVC) | 1.000000e-10 |
| GCST004500_28 | Waist circumference adjusted for BMI (adjusted for smoking behaviour) | 3.000000e-16 |
| GCST004500_77 | Waist circumference adjusted for BMI (adjusted for smoking behaviour) | 1.000000e-11 |
| GCST004500_92 | Waist circumference adjusted for BMI (adjusted for smoking behaviour) | 5.000000e-08 |
| GCST004501_112 | Waist circumference adjusted for BMI (joint analysis main effects and smoking interaction) | 3.000000e-19 |
| GCST004501_113 | Waist circumference adjusted for BMI (joint analysis main effects and smoking interaction) | 2.000000e-12 |
| GCST004501_114 | Waist circumference adjusted for BMI (joint analysis main effects and smoking interaction) | 1.000000e-08 |
| GCST004503_7 | Waist circumference adjusted for BMI in smokers | 1.000000e-09 |
| GCST004504_83 | Waist circumference adjusted for BMI in non-smokers | 3.000000e-09 |
| GCST004504_84 | Waist circumference adjusted for BMI in non-smokers | 4.000000e-12 |
| GCST004562_117 | Waist circumference adjusted for body mass index | 7.000000e-14 |
| GCST004562_160 | Waist circumference adjusted for body mass index | 4.000000e-10 |
| GCST004562_253 | Waist circumference adjusted for body mass index | 8.000000e-13 |
| GCST004562_6 | Waist circumference adjusted for body mass index | 3.000000e-11 |
| GCST004562_65 | Waist circumference adjusted for body mass index | 7.000000e-10 |
| GCST004563_142 | Waist circumference adjusted for BMI (joint analysis main effects and physical activity interaction) | 1.000000e-11 |
| GCST004563_154 | Waist circumference adjusted for BMI (joint analysis main effects and physical activity interaction) | 6.000000e-06 |
| GCST004563_214 | Waist circumference adjusted for BMI (joint analysis main effects and physical activity interaction) | 2.000000e-13 |
| GCST004563_37 | Waist circumference adjusted for BMI (joint analysis main effects and physical activity interaction) | 2.000000e-10 |
| GCST004563_53 | Waist circumference adjusted for BMI (joint analysis main effects and physical activity interaction) | 3.000000e-14 |
| GCST004564_15 | Waist circumference adjusted for BMI in active individuals | 4.000000e-10 |
EFO canonical traits (13, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0003892 | pulmonary function measurement |
| EFO:0004713 | FEV/FVC ratio |
| EFO:0007789 | BMI-adjusted waist circumference |
| EFO:0004318 | smoking behavior |
| EFO:0008002 | physical activity measurement |
| EFO:0004341 | body fat distribution |
| EFO:0004312 | vital capacity |
| EFO:0009718 | peak expiratory flow |
| EFO:0004346 | neuroimaging measurement |
| EFO:0004840 | cortical thickness |
| EFO:0008039 | BMI-adjusted hip circumference |
| EFO:0004980 | appendicular lean mass |
| EFO:0007788 | BMI-adjusted waist-hip ratio |
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 |
|---|---|---|
| Valproic Acid | affects expression, increases expression, increases methylation | 4 |
| bisphenol A | decreases expression, decreases methylation, increases expression | 3 |
| Estradiol | affects cotreatment, increases expression, decreases expression | 3 |
| (+)-JQ1 compound | decreases expression | 2 |
| Isotretinoin | decreases expression, increases expression | 2 |
| Particulate Matter | decreases expression, increases abundance, increases expression | 2 |
| bisphenol F | increases expression | 1 |
| 4-oxoretinoic acid | decreases expression | 1 |
| titanium dioxide | affects binding, increases expression | 1 |
| beta-lapachone | decreases expression | 1 |
| arsenite | decreases expression, increases methylation | 1 |
| sulforaphane | decreases expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | decreases expression | 1 |
| sodium arsenite | increases expression | 1 |
| benzo(e)pyrene | increases methylation | 1 |
| perfluorooctane sulfonic acid | 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 |
| bisphenol B | increases expression | 1 |
| LDN 193189 | affects cotreatment, increases expression | 1 |
| NSC 689534 | affects binding, increases expression | 1 |
| bisphenol AF | increases expression | 1 |
| Resveratrol | affects cotreatment, decreases expression | 1 |
| Temozolomide | decreases expression | 1 |
| Decitabine | affects expression | 1 |
| Sunitinib | increases expression | 1 |
| Alitretinoin | decreases expression | 1 |
| Acetaminophen | increases expression | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
| Arsenic | decreases methylation | 1 |
| Vehicle Emissions | increases abundance, 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.