FIGN
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Summary
FIGN (fidgetin, microtubule severing factor, HGNC:13285) is a protein-coding gene on chromosome 2q24.3, encoding Fidgetin (Q5HY92). ATP-dependent microtubule severing protein.
Predicted to enable ATP hydrolysis activity and microtubule severing ATPase activity. Predicted to be involved in cell division and microtubule cytoskeleton organization. Predicted to act upstream of or within locomotory behavior. Predicted to be located in nuclear matrix.
Source: NCBI Gene 55137 — RefSeq curated summary.
At a glance
- GWAS associations: 61
- Clinical variants (ClinVar): 102 total
- MANE Select transcript:
NM_018086
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:13285 |
| Approved symbol | FIGN |
| Name | fidgetin, microtubule severing factor |
| Location | 2q24.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000182263 |
| Ensembl biotype | protein_coding |
| OMIM | 605295 |
| Entrez | 55137 |
Gene structure
Transcript identifiers
Ensembl transcripts: 4 — 3 protein_coding, 1 protein_coding_CDS_not_defined
ENST00000333129, ENST00000409634, ENST00000482917, ENST00000879555
RefSeq mRNA: 2 — MANE Select: NM_018086
NM_001321825, NM_018086
CCDS: CCDS2221
Canonical transcript exons
ENST00000333129 — 3 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001379551 | 163735838 | 163736008 |
| ENSE00001944382 | 163602611 | 163611806 |
| ENSE00003363773 | 163734903 | 163735072 |
Expression profiles
Bgee: expression breadth ubiquitous, 225 present calls, max score 95.19.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 5.1151 / max 278.9210, expressed in 1034 samples.
FANTOM5 promoters (8 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 31595 | 2.8861 | 826 |
| 31597 | 1.2706 | 618 |
| 31596 | 0.4419 | 272 |
| 31592 | 0.3465 | 126 |
| 31593 | 0.0932 | 29 |
| 31590 | 0.0365 | 6 |
| 31594 | 0.0244 | 4 |
| 31591 | 0.0160 | 3 |
Top tissues by expression
247 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| buccal mucosa cell | CL:0002336 | 95.19 | gold quality |
| dorsal root ganglion | UBERON:0000044 | 89.74 | gold quality |
| endothelial cell | CL:0000115 | 86.38 | gold quality |
| trigeminal ganglion | UBERON:0001675 | 85.63 | gold quality |
| myocardium | UBERON:0002349 | 85.60 | silver quality |
| parietal pleura | UBERON:0002400 | 83.84 | gold quality |
| lateral nuclear group of thalamus | UBERON:0002736 | 83.66 | gold quality |
| secondary oocyte | CL:0000655 | 83.55 | gold quality |
| germinal epithelium of ovary | UBERON:0001304 | 83.28 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 82.32 | gold quality |
| tibial nerve | UBERON:0001323 | 80.88 | gold quality |
| pericardium | UBERON:0002407 | 80.81 | gold quality |
| cardiac muscle of right atrium | UBERON:0003379 | 80.73 | silver quality |
| heart right ventricle | UBERON:0002080 | 80.55 | gold quality |
| saphenous vein | UBERON:0007318 | 80.44 | gold quality |
| skin of hip | UBERON:0001554 | 80.19 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 80.16 | gold quality |
| visceral pleura | UBERON:0002401 | 79.25 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 78.69 | gold quality |
| Brodmann (1909) area 46 | UBERON:0006483 | 78.35 | gold quality |
| dorsal plus ventral thalamus | UBERON:0001897 | 77.71 | gold quality |
| lateral globus pallidus | UBERON:0002476 | 77.55 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 77.30 | gold quality |
| occipital lobe | UBERON:0002021 | 76.89 | gold quality |
| primary visual cortex | UBERON:0002436 | 76.32 | gold quality |
| ventral tegmental area | UBERON:0002691 | 76.28 | gold quality |
| popliteal artery | UBERON:0002250 | 76.00 | gold quality |
| tibial artery | UBERON:0007610 | 75.97 | gold quality |
| coronary artery | UBERON:0001621 | 75.94 | gold quality |
| aorta | UBERON:0000947 | 75.77 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 3.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-CURD-6 | yes | 159.77 |
| E-CURD-119 | yes | 11.12 |
| E-ANND-3 | yes | 6.92 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
259 targeting FIGN, 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-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-4262 | 100.00 | 73.26 | 3931 |
| HSA-MIR-6867-5P | 100.00 | 82.21 | 3464 |
| HSA-MIR-8485 | 100.00 | 77.57 | 4731 |
| HSA-MIR-4283 | 100.00 | 66.42 | 2097 |
| HSA-MIR-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| 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-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-4673 | 100.00 | 66.64 | 1490 |
| HSA-MIR-181A-5P | 99.99 | 72.96 | 2995 |
| HSA-MIR-181B-5P | 99.99 | 72.97 | 2996 |
| HSA-MIR-181C-5P | 99.99 | 72.95 | 2996 |
| HSA-MIR-181D-5P | 99.99 | 73.04 | 2997 |
| HSA-MIR-4500 | 99.99 | 72.72 | 2367 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-511-3P | 99.99 | 68.85 | 1467 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-548AW | 99.99 | 72.57 | 3559 |
| HSA-LET-7A-5P | 99.98 | 72.29 | 1790 |
| HSA-LET-7B-5P | 99.98 | 72.31 | 1790 |
| HSA-LET-7C-5P | 99.98 | 72.29 | 1790 |
| HSA-LET-7E-5P | 99.98 | 72.29 | 1790 |
| HSA-LET-7F-5P | 99.98 | 72.56 | 1784 |
| HSA-LET-7G-5P | 99.98 | 72.37 | 1784 |
| HSA-LET-7I-5P | 99.98 | 72.37 | 1788 |
| HSA-MIR-98-5P | 99.98 | 72.33 | 1787 |
Literature-anchored findings (GeneRIF, showing 5)
- The loss of Fidgetin induces a microtubule-dependent enlargement of mitotic centrosomes and an increase in the number and length of astral microtubules. (PMID:22672901)
- FIGN +94762G>C polymorphism reduced the risk of congenital heart defects by activating the transcription of an alternative FIGN isoform, inhibiting proteasome activity and allowing the accumulation of RFC1 and DHFR, promoting folate transmembrane transport and utilization. (PMID:28302752)
- FIGN might play an important role in decreased congenital heart defect risk by upregulating plasma folate concentration during embryo heart development (PMID:28534241)
- Fidgetin as a potential prognostic biomarker for hepatocellular carcinoma. (PMID:33162817)
- Comprehensive characterization of Fidgetin on tumor immune microenvironment evaluation and immunotherapy in human hepatocellular carcinoma. (PMID:38421251)
Cross-species orthologs
8 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | fign | ENSDARG00000008662 |
| mus_musculus | Fign | ENSMUSG00000075324 |
| rattus_norvegicus | Fign | ENSRNOG00000004679 |
| drosophila_melanogaster | Fign | FBGN0031519 |
| drosophila_melanogaster | kat-60L1 | FBGN0037375 |
| drosophila_melanogaster | Kat60 | FBGN0040208 |
| caenorhabditis_elegans | mei-1 | WBGENE00003183 |
| caenorhabditis_elegans | WBGENE00017981 |
Paralogs (9): SPAST (ENSG00000021574), KATNAL1 (ENSG00000102781), VPS4B (ENSG00000119541), FIGNL1 (ENSG00000132436), VPS4A (ENSG00000132612), ATAD1 (ENSG00000138138), KATNAL2 (ENSG00000167216), KATNA1 (ENSG00000186625), FIGNL2 (ENSG00000261308)
Protein
Protein identifiers
Fidgetin — Q5HY92 (reviewed: Q5HY92)
All UniProt accessions (2): Q5HY92, B8ZZS6
UniProt curated annotations — full annotation on UniProt →
Function. ATP-dependent microtubule severing protein. Severs microtubules along their length and depolymerizes their ends, primarily the minus-end, that may lead to the suppression of microtubule growth from and attachment to centrosomes. Microtubule severing may promote rapid reorganization of cellular microtubule arrays and the release of microtubules from the centrosome following nucleation. Microtubule release from the mitotic spindle poles may allow depolymerization of the microtubule end proximal to the spindle pole, leading to poleward microtubule flux and poleward motion of chromosome.
Subunit / interactions. Interacts with AKAP8 (via C-terminus).
Subcellular location. Nucleus matrix. Cytoplasm. Cytoskeleton. Microtubule organizing center. Centrosome.
Similarity. Belongs to the AAA ATPase family.
RefSeq proteins (2): NP_001308754, NP_060556* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR003593 | AAA+_ATPase | Domain |
| IPR003959 | ATPase_AAA_core | Domain |
| IPR003960 | ATPase_AAA_CS | Conserved_site |
| IPR015415 | Spast_Vps4_C | Domain |
| IPR027417 | P-loop_NTPase | Homologous_superfamily |
| IPR047828 | Fidgetin_ATPase | Domain |
| IPR050304 | MT-severing_AAA_ATPase | Family |
Pfam: PF00004, PF09336
UniProt features (16 total): region of interest 4, sequence variant 3, compositionally biased region 3, binding site 2, chain 1, modified residue 1, mutagenesis site 1, sequence conflict 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q5HY92-F1 | 62.06 | 0.33 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Ligand- & substrate-binding residues (2): 489; 529–534
Post-translational modifications (1): 400
Mutagenesis-validated functional residues (1):
| Position | Phenotype |
|---|---|
| 532 | inhibits the ability to sever and depolymerize microtubules. |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 245 (showing top):
GSE18804_SPLEEN_MACROPHAGE_VS_BRAIN_TUMORAL_MACROPHAGE_UP, GSE45365_CTRL_VS_MCMV_INFECTION_NK_CELL_DN, RODRIGUES_THYROID_CARCINOMA_ANAPLASTIC_UP, GOZGIT_ESR1_TARGETS_DN, LHX3_01, CHX10_01, GOCC_MICROTUBULE_ORGANIZING_CENTER, SENESE_HDAC1_AND_HDAC2_TARGETS_DN, NKX62_Q2, DAWSON_METHYLATED_IN_LYMPHOMA_TCL1, chr2q24, GTGTTGA_MIR505, IRF1_Q6, GOCC_CENTROSOME, ATTACAT_MIR3803P
GO Biological Process (2): microtubule severing (GO:0051013), cell division (GO:0051301)
GO Molecular Function (5): ATP binding (GO:0005524), microtubule severing ATPase activity (GO:0008568), ATP hydrolysis activity (GO:0016887), nucleotide binding (GO:0000166), protein binding (GO:0005515)
GO Cellular Component (6): nucleus (GO:0005634), cytoplasm (GO:0005737), centrosome (GO:0005813), microtubule (GO:0005874), nuclear matrix (GO:0016363), cytoskeleton (GO:0005856)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| microtubule cytoskeleton organization | 2 |
| ATP-dependent activity | 2 |
| cellular anatomical structure | 2 |
| cellular process | 1 |
| adenyl ribonucleotide binding | 1 |
| purine ribonucleoside triphosphate binding | 1 |
| polypeptide conformation or assembly isomerase activity | 1 |
| catalytic activity, acting on a protein | 1 |
| microtubule destabilizing activity | 1 |
| ribonucleoside triphosphate phosphatase activity | 1 |
| nucleoside phosphate binding | 1 |
| heterocyclic compound binding | 1 |
| binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| intracellular anatomical structure | 1 |
| centriole | 1 |
| microtubule organizing center | 1 |
| microtubule cytoskeleton | 1 |
| polymeric cytoskeletal fiber | 1 |
| nuclear lumen | 1 |
| intracellular membraneless organelle | 1 |
Protein interactions and networks
STRING
1734 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| FIGN | KATNB1 | Q9BVA0 | 635 |
| FIGN | CPNE4 | Q96A23 | 474 |
| FIGN | GRB14 | Q14449 | 436 |
| FIGN | KCNH7 | Q9NS40 | 423 |
| FIGN | STPG2 | Q8N412 | 402 |
| FIGN | ZNF197 | O14709 | 396 |
| FIGN | TCERG1 | O14776 | 395 |
| FIGN | OR4B1 | Q8NGF8 | 390 |
| FIGN | ATL2 | Q8NHH9 | 369 |
| FIGN | STAC2 | Q6ZMT1 | 368 |
| FIGN | FAM199X | Q6PEV8 | 368 |
| FIGN | CHMP1B | Q7LBR1 | 365 |
| FIGN | KATNBL1 | Q9H079 | 354 |
| FIGN | MEI1 | Q5TIA1 | 354 |
| FIGN | ATL3 | Q6DD88 | 352 |
IntAct
12 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| FIGN | CHERP | psi-mi:“MI:0915”(physical association) | 0.560 |
| HGS | FIGN | psi-mi:“MI:0915”(physical association) | 0.560 |
| ERP44 | MEX3A | psi-mi:“MI:0914”(association) | 0.530 |
| COPS5 | FBLL1 | psi-mi:“MI:0914”(association) | 0.350 |
| LANCL1 | MYO7A | psi-mi:“MI:0914”(association) | 0.350 |
| PAX9 | BCL9 | psi-mi:“MI:2364”(proximity) | 0.270 |
| CHERP | FIGN | psi-mi:“MI:0915”(physical association) | 0.000 |
| HGS | FIGN | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (14): FIGN (Affinity Capture-MS), FIGN (Affinity Capture-MS), FIGN (Affinity Capture-MS), FIGN (Affinity Capture-RNA), FIGN (Two-hybrid), HGS (Two-hybrid), FIGN (Affinity Capture-MS), FIGN (Affinity Capture-RNA), FIGN (Affinity Capture-MS), FIGN (Proximity Label-MS), FIGN (Proximity Label-MS), FIGN (Proximity Label-MS), FIGN (Proximity Label-MS), FIGN (Affinity Capture-MS)
ESM2 similar proteins: A0JMA9, A2VDN5, A4IHT0, A8XV40, B2GUY1, B3DL84, B3M301, B3P8A3, B4HGG6, B4K799, B4M0H8, B4QSF0, B7PXE3, F4IRW0, F4JEX5, F4JY37, O13839, O16299, O43078, Q05AS3, Q3B8D5, Q503S1, Q53WJ1, Q5HY92, Q64702, Q6AZT2, Q6DDU8, Q6DJS0, Q6GX84, Q6NW58, Q6PAD2, Q6PIW4, Q6PL18, Q700C2, Q719N1, Q7ZXG4, Q8BPY9, Q8CDM1, Q8I0P1, Q8IYT4
Diamond homologs: A0A8I6AGW3, A0LR74, A2VDN5, A4IHT0, A6NMB9, B2RYN7, B3M301, B3P8A3, B4F6J6, B4G437, B4HGG6, B4JII0, B4K799, B4M0H8, B4NBP4, B4PL32, B4QSF0, B7PXE3, D0FH76, D2VS83, E9QEA3, F4JEX5, F6QV99, J3QK54, O05209, O14114, O14325, O15381, O16299, O28972, O57940, O60058, P03974, P23787, P25694, P32794, P36966, P40340, P46462, P54609
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
102 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 97 |
| Likely benign | 3 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1702 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 2:163612431:T:C | donor_gain | 1.0000 |
| 2:163735832:TCTTA:T | donor_loss | 1.0000 |
| 2:163735833:CTTAC:C | donor_loss | 1.0000 |
| 2:163735834:TTA:T | donor_loss | 1.0000 |
| 2:163735835:TACCT:T | donor_loss | 1.0000 |
| 2:163735836:ACC:A | donor_loss | 1.0000 |
| 2:163735837:C:CT | donor_loss | 1.0000 |
| 2:163611802:CAAGC:C | acceptor_gain | 0.9900 |
| 2:163611805:GC:G | acceptor_gain | 0.9900 |
| 2:163611805:GCC:G | acceptor_loss | 0.9900 |
| 2:163611806:CC:C | acceptor_gain | 0.9900 |
| 2:163611807:C:CC | acceptor_gain | 0.9900 |
| 2:163611807:CT:C | acceptor_loss | 0.9900 |
| 2:163611808:T:G | acceptor_loss | 0.9900 |
| 2:163612374:C:CA | donor_gain | 0.9900 |
| 2:163612404:G:C | donor_gain | 0.9900 |
| 2:163612413:T:TA | donor_gain | 0.9900 |
| 2:163612428:T:A | donor_gain | 0.9900 |
| 2:163612446:G:GT | donor_gain | 0.9900 |
| 2:163612464:T:TA | donor_gain | 0.9900 |
| 2:163639505:C:CT | donor_gain | 0.9900 |
| 2:163702449:A:AC | donor_gain | 0.9900 |
| 2:163702453:C:CT | donor_gain | 0.9900 |
| 2:163735836:A:AC | donor_gain | 0.9900 |
| 2:163735837:C:CC | donor_gain | 0.9900 |
| 2:163609736:T:TA | donor_gain | 0.9800 |
| 2:163611804:AGC:A | acceptor_gain | 0.9800 |
| 2:163611813:A:AC | acceptor_gain | 0.9800 |
| 2:163611814:T:C | acceptor_gain | 0.9800 |
| 2:163611815:T:C | acceptor_gain | 0.9800 |
AlphaMissense
4939 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 2:163611618:C:G | A72P | 1.000 |
| 2:163611629:A:G | L68P | 1.000 |
| 2:163611632:A:G | L67P | 1.000 |
| 2:163611656:A:T | I59K | 1.000 |
| 2:163611609:A:C | Y75D | 0.999 |
| 2:163611621:A:C | Y71D | 0.999 |
| 2:163611625:T:A | K69N | 0.999 |
| 2:163611625:T:G | K69N | 0.999 |
| 2:163611626:T:A | K69I | 0.999 |
| 2:163611638:G:A | S65F | 0.999 |
| 2:163611639:A:G | S65P | 0.999 |
| 2:163611641:G:T | A64E | 0.999 |
| 2:163611642:C:G | A64P | 0.999 |
| 2:163611647:A:G | L62P | 0.999 |
| 2:163611653:G:A | S60F | 0.999 |
| 2:163611656:A:C | I59R | 0.999 |
| 2:163611656:A:G | I59T | 0.999 |
| 2:163611662:T:A | D57V | 0.999 |
| 2:163611672:A:G | W54R | 0.999 |
| 2:163611672:A:T | W54R | 0.999 |
| 2:163609581:A:G | W751R | 0.998 |
| 2:163609581:A:T | W751R | 0.998 |
| 2:163610878:C:A | R318S | 0.998 |
| 2:163610878:C:G | R318S | 0.998 |
| 2:163610879:C:A | R318M | 0.998 |
| 2:163610879:C:G | R318T | 0.998 |
| 2:163611629:A:T | L68Q | 0.998 |
| 2:163611638:G:T | S65Y | 0.998 |
| 2:163611644:G:A | T63I | 0.998 |
| 2:163611647:A:T | L62Q | 0.998 |
dbSNP variants (sampled 300 via entrez): RS1000004693 (2:163617614 T>C), RS1000050880 (2:163629868 T>C), RS1000084401 (2:163621670 C>A,T), RS1000111852 (2:163623184 T>A,C), RS1000117704 (2:163631171 T>A), RS1000122656 (2:163718027 A>G), RS1000161405 (2:163673694 G>A), RS1000169855 (2:163608309 A>G), RS1000186546 (2:163628833 C>A,G,T), RS1000189531 (2:163721807 TAGTAA>T), RS1000235526 (2:163629156 G>A,T), RS1000280009 (2:163726801 T>G), RS1000288906 (2:163682588 G>C,T), RS1000382713 (2:163661317 G>A), RS1000384603 (2:163689591 G>A)
Disease associations
OMIM: gene MIM:605295 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
61 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000462_1 | Response to antipsychotic treatment | 3.000000e-06 |
| GCST000483_9 | Folate pathway vitamin levels | 8.000000e-08 |
| GCST001072_4 | Blood pressure | 4.000000e-11 |
| GCST001235_8 | Blood pressure | 2.000000e-08 |
| GCST001236_9 | Blood pressure | 6.000000e-12 |
| GCST002497_7 | Blood pressure | 2.000000e-06 |
| GCST002783_382 | Body mass index | 5.000000e-08 |
| GCST002783_539 | Body mass index | 9.000000e-07 |
| GCST002833_1 | Platinum-induced myelosuppression in non-small cell lung cancer | 7.000000e-06 |
| GCST002875_157 | Diisocyanate-induced asthma | 1.000000e-06 |
| GCST003272_8 | Systolic blood pressure | 3.000000e-08 |
| GCST003275_6 | Mean arterial pressure | 2.000000e-06 |
| GCST003374_1 | Chronic kidney disease | 6.000000e-06 |
| GCST004279_4 | Systolic blood pressure | 1.000000e-11 |
| GCST004495_41 | BMI (adjusted for smoking behaviour) | 2.000000e-06 |
| GCST004497_89 | Body mass index (joint analysis main effects and smoking interaction) | 2.000000e-06 |
| GCST004499_36 | BMI in non-smokers | 7.000000e-06 |
| GCST004745_3 | Immunoglobulin A vasculitis | 6.000000e-06 |
| GCST004775_17 | Pulse pressure | 3.000000e-11 |
| GCST004776_12 | Systolic blood pressure | 3.000000e-13 |
| GCST004777_48 | Diastolic blood pressure | 2.000000e-11 |
| GCST005979_8 | Systolic blood pressure | 3.000000e-11 |
| GCST006010_22 | Mean arterial pressure | 1.000000e-09 |
| GCST006021_18 | Systolic blood pressure | 6.000000e-07 |
| GCST006187_7 | Diastolic blood pressure (cigarette smoking interaction) | 2.000000e-23 |
| GCST006188_21 | Systolic blood pressure (cigarette smoking interaction) | 1.000000e-34 |
| GCST006258_47 | Diastolic blood pressure | 2.000000e-12 |
| GCST006259_30 | Systolic blood pressure | 2.000000e-14 |
| GCST007045_18 | PR interval | 2.000000e-11 |
| GCST007095_123 | Systolic blood pressure | 4.000000e-12 |
EFO canonical traits (18, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004729 | vitamin measurement |
| EFO:0006335 | systolic blood pressure |
| EFO:0005763 | pulse pressure measurement |
| EFO:0006340 | mean arterial pressure |
| EFO:0004340 | body mass index |
| EFO:0007053 | myelosuppression |
| EFO:0006995 | response to diisocyanate |
| EFO:0004318 | smoking behavior |
| EFO:1000965 | Henoch-Schoenlein purpura |
| EFO:0006336 | diastolic blood pressure |
| EFO:0006527 | smoking status measurement |
| EFO:0004462 | PR interval |
| EFO:0008579 | risk-taking behaviour |
| EFO:0008039 | BMI-adjusted hip circumference |
| EFO:0007828 | daytime rest measurement |
| EFO:0009749 | age at first sexual intercourse measurement |
| EFO:0007789 | BMI-adjusted waist circumference |
| 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
47 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| trichostatin A | affects cotreatment, increases expression | 3 |
| Cyclosporine | decreases expression, increases expression | 3 |
| Acetaminophen | decreases expression | 2 |
| Nickel | decreases expression | 2 |
| Aflatoxin B1 | decreases expression, decreases methylation | 2 |
| Cadmium Chloride | increases abundance, increases expression, decreases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| methylmercuric chloride | decreases expression | 1 |
| bisphenol A | decreases methylation | 1 |
| terbufos | increases methylation | 1 |
| arsenite | affects binding, decreases reaction | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | increases expression | 1 |
| butyraldehyde | decreases expression | 1 |
| 16 alpha-ethyl-21-hydroxy-19-nor-4-pregnene-3,20-dione | decreases expression | 1 |
| potassium chromate(VI) | decreases expression | 1 |
| pentanal | decreases expression | 1 |
| perfluorooctane sulfonic acid | 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, increases expression | 1 |
| abrine | increases expression | 1 |
| dorsomorphin | affects cotreatment, increases expression | 1 |
| jinfukang | affects cotreatment, decreases expression | 1 |
| (+)-JQ1 compound | affects expression, increases reaction | 1 |
| Vorinostat | increases expression | 1 |
| Panobinostat | increases reaction, affects expression | 1 |
| Arsenic | affects methylation | 1 |
| Cadmium | decreases expression, increases abundance | 1 |
| Cisplatin | affects cotreatment, decreases expression | 1 |
| Fonofos | increases methylation | 1 |
| Estradiol | affects 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): chronic kidney disease, coronary artery disorder, hypertensive disorder, myocardial infarction, polycystic ovary syndrome