RASIP1
gene geneOn this page
Also known as FLJ20401RAIN
Summary
RASIP1 (Ras interacting protein 1, HGNC:24716) is a protein-coding gene on chromosome 19q13.33, encoding Ras-interacting protein 1 (Q5U651). Required for the proper formation of vascular structures that develop via both vasculogenesis and angiogenesis.
Enables GTPase binding activity and protein homodimerization activity. Involved in several processes, including negative regulation of Rho protein signal transduction; negative regulation of metabolic process; and positive regulation of integrin activation. Located in cell-cell junction. Part of protein-containing complex.
Source: NCBI Gene 54922 — RefSeq curated summary.
At a glance
- GWAS associations: 36
- Clinical variants (ClinVar): 135 total
- MANE Select transcript:
NM_017805
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:24716 |
| Approved symbol | RASIP1 |
| Name | Ras interacting protein 1 |
| Location | 19q13.33 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ20401, RAIN |
| Ensembl gene | ENSG00000105538 |
| Ensembl biotype | protein_coding |
| OMIM | 609623 |
| Entrez | 54922 |
Gene structure
Transcript identifiers
Ensembl transcripts: 13 — 11 protein_coding, 1 protein_coding_CDS_not_defined, 1 retained_intron
ENST00000222145, ENST00000594232, ENST00000599291, ENST00000601530, ENST00000862294, ENST00000862295, ENST00000862296, ENST00000862297, ENST00000862298, ENST00000963671, ENST00000963672, ENST00000963673, ENST00000963674
RefSeq mRNA: 1 — MANE Select: NM_017805
NM_017805
CCDS: CCDS12731
Canonical transcript exons
ENST00000222145 — 12 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000718041 | 48724717 | 48724960 |
| ENSE00000718044 | 48726785 | 48726888 |
| ENSE00000718048 | 48727007 | 48727158 |
| ENSE00001058790 | 48727393 | 48727430 |
| ENSE00001238208 | 48728937 | 48729590 |
| ENSE00001238218 | 48738960 | 48739645 |
| ENSE00001238226 | 48740146 | 48740286 |
| ENSE00001238231 | 48740521 | 48740610 |
| ENSE00003483016 | 48724337 | 48724509 |
| ENSE00003502890 | 48721854 | 48722001 |
| ENSE00003504405 | 48735196 | 48735551 |
| ENSE00003529887 | 48720585 | 48720997 |
Expression profiles
Bgee: expression breadth ubiquitous, 217 present calls, max score 92.47.
FANTOM5 (CAGE): breadth broad, TPM avg 2.2317 / max 60.0711, expressed in 422 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 181923 | 1.1388 | 280 |
| 181922 | 0.4856 | 205 |
| 181917 | 0.3688 | 147 |
| 181921 | 0.2385 | 141 |
Top tissues by expression
262 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| right lung | UBERON:0002167 | 92.47 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 91.94 | gold quality |
| apex of heart | UBERON:0002098 | 91.48 | gold quality |
| upper lobe of lung | UBERON:0008948 | 91.47 | gold quality |
| omental fat pad | UBERON:0010414 | 91.33 | gold quality |
| peritoneum | UBERON:0002358 | 91.26 | gold quality |
| adipose tissue of abdominal region | UBERON:0007808 | 90.79 | gold quality |
| spleen | UBERON:0002106 | 89.09 | gold quality |
| subcutaneous adipose tissue | UBERON:0002190 | 88.47 | gold quality |
| lower lobe of lung | UBERON:0008949 | 87.47 | gold quality |
| left uterine tube | UBERON:0001303 | 87.42 | gold quality |
| lung | UBERON:0002048 | 87.24 | gold quality |
| heart left ventricle | UBERON:0002084 | 86.58 | gold quality |
| adipose tissue | UBERON:0001013 | 86.48 | gold quality |
| cardiac ventricle | UBERON:0002082 | 86.18 | gold quality |
| right atrium auricular region | UBERON:0006631 | 85.57 | gold quality |
| connective tissue | UBERON:0002384 | 85.54 | gold quality |
| body of uterus | UBERON:0009853 | 85.15 | gold quality |
| cardiac atrium | UBERON:0002081 | 84.62 | gold quality |
| body of pancreas | UBERON:0001150 | 84.54 | gold quality |
| ectocervix | UBERON:0012249 | 84.41 | gold quality |
| body of stomach | UBERON:0001161 | 84.13 | gold quality |
| heart | UBERON:0000948 | 84.11 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 83.89 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 83.83 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 83.81 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 83.14 | gold quality |
| lower esophagus | UBERON:0013473 | 83.12 | gold quality |
| thyroid gland | UBERON:0002046 | 82.99 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 82.78 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 9.35 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): CUX1
miRNA regulators (miRDB)
5 targeting RASIP1, 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-150-5P | 99.99 | 66.69 | 1976 |
| HSA-MIR-137-3P | 99.87 | 74.74 | 2401 |
| HSA-MIR-4713-5P | 99.78 | 67.80 | 1794 |
| HSA-MIR-498-5P | 99.76 | 69.64 | 1807 |
| HSA-MIR-6748-3P | 97.20 | 65.66 | 836 |
Literature-anchored findings (GeneRIF, showing 6)
- Rain is a novel protein that can serve as an effector of endomembrane-localized Ras (PMID:15031288)
- results reveal an effector pathway for Rap1 in the modulation of Rho signaling and actin dynamics, through which Rap1 modulates endothelial barrier function (PMID:23798437)
- These studies establish that the binding of HEG1 to Rasip1 mediates Rap1-dependent recruitment of Rasip1 to and stabilization of endothelial cell cell-cell junctions. (PMID:26780829)
- Results show that Rasip1 RA domain formed a dimer that can bind two Rap1 or Ras molecules and solved the Rap1-RRA complex and found that Rasip1 binds Rap1 in the Switch I region, and Rap1 binding induces few conformation changes to Rasip1 stabilizing a beta strand and an unstructured loop. (PMID:27839947)
- RAIN Is a Novel Enhancer-Associated lncRNA That Controls RUNX2 Expression and Promotes Breast and Thyroid Cancer. (PMID:31624086)
- Ras interacting protein 1 facilitated proliferation and invasion of diffuse large B-cell lymphoma cells. (PMID:36967521)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | rasip1 | ENSDARG00000074829 |
| mus_musculus | Rasip1 | ENSMUSG00000044562 |
| rattus_norvegicus | Rasip1 | ENSRNOG00000021004 |
Paralogs (1): RADIL (ENSG00000157927)
Protein
Protein identifiers
Ras-interacting protein 1 — Q5U651 (reviewed: Q5U651)
All UniProt accessions (2): Q5U651, M0R148
UniProt curated annotations — full annotation on UniProt →
Function. Required for the proper formation of vascular structures that develop via both vasculogenesis and angiogenesis. Acts as a critical and vascular-specific regulator of GTPase signaling, cell architecture, and adhesion, which is essential for endothelial cell morphogenesis and blood vessel tubulogenesis. Regulates the activity of Rho GTPases in part by recruiting ARHGAP29 and suppressing RhoA signaling and dampening ROCK and MYH9 activities in endothelial cells. May act as effector for Golgi-bound HRAS and other Ras-like proteins. May promote HRAS-mediated transformation. Negative regulator of amino acid starvation-induced autophagy.
Subunit / interactions. Interacts with Ras family members that have been activated by GTP binding. Interacts with HRAS, RAP1A, RAP2, RRAS, RAF1 and RRAS2. Interacts with MYH9 and ARHGAP29.
Subcellular location. Cytoplasm. Perinuclear region. Golgi apparatus. Golgi stack.
Tissue specificity. Highly expressed in heart. Detected at lower levels in placenta and pancreas.
RefSeq proteins (1): NP_060275* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000159 | RA_dom | Domain |
| IPR002710 | Dilute_dom | Domain |
| IPR008984 | SMAD_FHA_dom_sf | Homologous_superfamily |
| IPR029071 | Ubiquitin-like_domsf | Homologous_superfamily |
| IPR037983 | CBD_Rasip1/Radil | Domain |
| IPR052072 | Vascular_dev_regulator | Family |
Pfam: PF00788, PF01843
UniProt features (35 total): modified residue 8, compositionally biased region 6, strand 6, helix 4, sequence conflict 3, region of interest 3, domain 2, chain 1, sequence variant 1, turn 1
Structure
Experimental structures (PDB)
2 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 5KHO | X-RAY DIFFRACTION | 2.78 |
| 5KHQ | X-RAY DIFFRACTION | 2.8 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q5U651-F1 | 72.23 | 0.40 |
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 (8): 94, 188, 280, 292, 326, 328, 331, 419
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 165 (showing top):
GOBP_MORPHOGENESIS_OF_AN_EPITHELIUM, GOBP_EPITHELIUM_DEVELOPMENT, GOBP_REGULATION_OF_AUTOPHAGY, GOBP_REGULATION_OF_PHOSPHORYLATION, GOBP_NEGATIVE_REGULATION_OF_KINASE_ACTIVITY, GOBP_REGULATION_OF_GTPASE_ACTIVITY, GOBP_REGULATION_OF_SMALL_GTPASE_MEDIATED_SIGNAL_TRANSDUCTION, DARWICHE_SKIN_TUMOR_PROMOTER_DN, GOBP_REGULATION_OF_TRANSFERASE_ACTIVITY, DARWICHE_PAPILLOMA_RISK_LOW_DN, DARWICHE_PAPILLOMA_RISK_HIGH_UP, DARWICHE_SQUAMOUS_CELL_CARCINOMA_UP, GOMF_GTPASE_BINDING, GOBP_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS, GGGTGGRR_PAX4_03
GO Biological Process (10): angiogenesis (GO:0001525), vasculogenesis (GO:0001570), signal transduction (GO:0007165), negative regulation of autophagy (GO:0010507), positive regulation of integrin activation (GO:0033625), negative regulation of Rho protein signal transduction (GO:0035024), regulation of GTPase activity (GO:0043087), branching morphogenesis of an epithelial tube (GO:0048754), negative regulation of membrane permeability (GO:1905709), obsolete negative regulation of Rho-dependent protein serine/threonine kinase activity (GO:2000299)
GO Molecular Function (3): protein homodimerization activity (GO:0042803), GTPase binding (GO:0051020), protein binding (GO:0005515)
GO Cellular Component (6): Golgi stack (GO:0005795), cell-cell junction (GO:0005911), protein-containing complex (GO:0032991), perinuclear region of cytoplasm (GO:0048471), cytoplasm (GO:0005737), Golgi apparatus (GO:0005794)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| blood vessel morphogenesis | 2 |
| cytoplasm | 2 |
| cellular anatomical structure | 2 |
| anatomical structure formation involved in morphogenesis | 1 |
| cell differentiation | 1 |
| cell communication | 1 |
| cellular process | 1 |
| signaling | 1 |
| regulation of cellular process | 1 |
| cellular response to stimulus | 1 |
| autophagy | 1 |
| negative regulation of catabolic process | 1 |
| regulation of autophagy | 1 |
| positive regulation of protein-containing complex assembly | 1 |
| integrin activation | 1 |
| regulation of integrin activation | 1 |
| Rho protein signal transduction | 1 |
| regulation of Rho protein signal transduction | 1 |
| negative regulation of small GTPase mediated signal transduction | 1 |
| GTPase activity | 1 |
| regulation of hydrolase activity | 1 |
| tube morphogenesis | 1 |
| epithelial tube morphogenesis | 1 |
| morphogenesis of a branching epithelium | 1 |
| regulation of membrane permeability | 1 |
| identical protein binding | 1 |
| protein dimerization activity | 1 |
| enzyme binding | 1 |
| binding | 1 |
| Golgi apparatus subcompartment | 1 |
| anchoring junction | 1 |
| cellular_component | 1 |
| intracellular anatomical structure | 1 |
| endomembrane system | 1 |
| intracellular membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
2615 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| RASIP1 | ARHGAP29 | Q52LW3 | 942 |
| RASIP1 | LRPAP1 | P30533 | 783 |
| RASIP1 | KRIT1 | O00522 | 754 |
| RASIP1 | RRAS2 | P17082 | 720 |
| RASIP1 | HEG1 | Q9ULI3 | 662 |
| RASIP1 | RRAS | P10301 | 652 |
| RASIP1 | RAP1A | P10113 | 628 |
| RASIP1 | RAP2A | P10114 | 588 |
| RASIP1 | IZUMO1 | Q8IYV9 | 526 |
| RASIP1 | RASA1 | P20936 | 509 |
| RASIP1 | CCM2L | Q9NUG4 | 507 |
| RASIP1 | IZUMO2 | Q6UXV1 | 471 |
| RASIP1 | ISOC2 | Q96AB3 | 465 |
| RASIP1 | CTNNB1 | P35222 | 456 |
| RASIP1 | CCM2 | Q9BSQ5 | 425 |
IntAct
25 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| RASIP1 | CFL1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| RASIP1 | Sdc4 | psi-mi:“MI:0915”(physical association) | 0.400 |
| LDB2 | RASIP1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| RASIP1 | ARFGAP1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| CDC42 | BBX | psi-mi:“MI:0914”(association) | 0.350 |
| RACGAP1 | STX18 | psi-mi:“MI:0914”(association) | 0.350 |
| ZWINT | ARHGAP32 | psi-mi:“MI:0914”(association) | 0.350 |
| RNF41 | CLEC16A | psi-mi:“MI:0914”(association) | 0.350 |
| Sgo2a | SORBS3 | psi-mi:“MI:0914”(association) | 0.350 |
| Csnk1d | WWP2 | psi-mi:“MI:0914”(association) | 0.350 |
| Pals2 | RBM10 | psi-mi:“MI:0914”(association) | 0.350 |
| FGFR1OP2 | STK24 | psi-mi:“MI:0914”(association) | 0.350 |
| SIKE1 | STK24 | psi-mi:“MI:0914”(association) | 0.350 |
| BAG3 | MAP3K4 | psi-mi:“MI:0914”(association) | 0.350 |
| Bap1 | HCFC1 | psi-mi:“MI:0914”(association) | 0.350 |
| HNRNPD | ARHGAP32 | psi-mi:“MI:0914”(association) | 0.350 |
| BUB3 | ZNF207 | psi-mi:“MI:0914”(association) | 0.350 |
| PPP1R18 | OGA | psi-mi:“MI:0914”(association) | 0.350 |
| CDH5 | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.270 |
| CDH5 | MYO1C | psi-mi:“MI:2364”(proximity) | 0.270 |
| RASIP1 | lysU | psi-mi:“MI:0915”(physical association) | 0.000 |
| RASIP1 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (24): RASIP1 (Two-hybrid), RASIP1 (Affinity Capture-MS), RASIP1 (Affinity Capture-MS), RASIP1 (Affinity Capture-MS), RASIP1 (Affinity Capture-MS), RASIP1 (Affinity Capture-MS), RASIP1 (Affinity Capture-MS), RASIP1 (Affinity Capture-MS), RASIP1 (Affinity Capture-MS), RASIP1 (Affinity Capture-MS), RASIP1 (Affinity Capture-MS), RASIP1 (Affinity Capture-MS), RASIP1 (Affinity Capture-MS), RASIP1 (Affinity Capture-MS), RASIP1 (Affinity Capture-MS)
ESM2 similar proteins: A1L188, A2AMZ4, A2XK00, A7YY73, B4FGS2, B4FTR7, B8B624, C0HAV3, C5E268, G2TRP6, O13973, O75012, O95159, O95872, Q0VDN7, Q12894, Q28H71, Q2YDD3, Q3SZA2, Q3SZW4, Q3U0S6, Q3UJV1, Q49AH0, Q4G012, Q5FVV3, Q5U509, Q5U651, Q61858, Q6ASS9, Q6P0I6, Q756Q5, Q7S4Y4, Q7XAM0, Q7XK12, Q8BGD8, Q8BGX2, Q8CC36, Q8VED2, Q96BP2, Q96C34
Diamond homologs: A0A140LI67, A1A5G4, A7UA95, E2QYC9, F1MAD2, G5ECY0, O14910, O15018, O35274, O35867, O54824, O55164, O60333, O75970, O88382, O88658, O88951, O88952, P31007, P31016, P57105, P70175, P78352, Q0P5F3, Q12923, Q14005, Q14160, Q15700, Q24008, Q28C55, Q2KIB6, Q32LM6, Q3T0C9, Q3U0S6, Q4KL35, Q4L1J4, Q5F425, Q5F488, Q5PYH5, Q5PYH6
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
135 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 124 |
| Likely benign | 6 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1736 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 19:48727005:AC:A | donor_gain | 1.0000 |
| 19:48727006:CC:C | donor_gain | 1.0000 |
| 19:48727006:CCCT:C | donor_gain | 1.0000 |
| 19:48727021:T:TA | donor_gain | 1.0000 |
| 19:48727156:TGG:T | acceptor_gain | 1.0000 |
| 19:48727157:GG:G | acceptor_gain | 1.0000 |
| 19:48727159:C:CC | acceptor_gain | 1.0000 |
| 19:48727160:T:C | acceptor_gain | 1.0000 |
| 19:48727160:T:TC | acceptor_gain | 1.0000 |
| 19:48727391:A:AC | donor_gain | 1.0000 |
| 19:48727392:C:CC | donor_gain | 1.0000 |
| 19:48728947:T:TA | donor_gain | 1.0000 |
| 19:48735190:GGTTA:G | donor_loss | 1.0000 |
| 19:48735194:A:C | donor_loss | 1.0000 |
| 19:48735195:CCTGG:C | donor_loss | 1.0000 |
| 19:48735203:T:TA | donor_gain | 1.0000 |
| 19:48738955:CTCA:C | donor_loss | 1.0000 |
| 19:48738956:TCAC:T | donor_loss | 1.0000 |
| 19:48738957:CACCT:C | donor_loss | 1.0000 |
| 19:48738958:ACC:A | donor_loss | 1.0000 |
| 19:48721437:ATGT:A | donor_gain | 0.9900 |
| 19:48722000:GC:G | acceptor_gain | 0.9900 |
| 19:48722001:CC:C | acceptor_gain | 0.9900 |
| 19:48722002:C:CA | acceptor_loss | 0.9900 |
| 19:48722002:C:CC | acceptor_gain | 0.9900 |
| 19:48722003:T:C | acceptor_loss | 0.9900 |
| 19:48724332:GTCA:G | donor_loss | 0.9900 |
| 19:48724333:TCACC:T | donor_loss | 0.9900 |
| 19:48724334:CACCT:C | donor_loss | 0.9900 |
| 19:48724335:ACCT:A | donor_loss | 0.9900 |
AlphaMissense
6089 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 19:48720961:A:T | L910H | 1.000 |
| 19:48720971:G:C | H907D | 1.000 |
| 19:48720978:G:C | F904L | 1.000 |
| 19:48720978:G:T | F904L | 1.000 |
| 19:48720979:A:C | F904C | 1.000 |
| 19:48720980:A:G | F904L | 1.000 |
| 19:48721893:A:G | W885R | 1.000 |
| 19:48721893:A:T | W885R | 1.000 |
| 19:48724455:A:G | L809P | 1.000 |
| 19:48724484:C:A | W799C | 1.000 |
| 19:48724484:C:G | W799C | 1.000 |
| 19:48724733:G:C | N785K | 1.000 |
| 19:48724733:G:T | N785K | 1.000 |
| 19:48724740:A:G | L783P | 1.000 |
| 19:48724754:G:C | F778L | 1.000 |
| 19:48724754:G:T | F778L | 1.000 |
| 19:48724755:A:G | F778S | 1.000 |
| 19:48724756:A:G | F778L | 1.000 |
| 19:48724757:G:C | F777L | 1.000 |
| 19:48724757:G:T | F777L | 1.000 |
| 19:48724759:A:G | F777L | 1.000 |
| 19:48724768:A:G | Y774H | 1.000 |
| 19:48724788:A:G | L767P | 1.000 |
| 19:48724916:G:C | F724L | 1.000 |
| 19:48724916:G:T | F724L | 1.000 |
| 19:48724918:A:G | F724L | 1.000 |
| 19:48726785:C:A | K709N | 1.000 |
| 19:48726785:C:G | K709N | 1.000 |
| 19:48726792:A:G | L707P | 1.000 |
| 19:48726799:A:C | Y705D | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000154500 (19:48742383 T>G), RS1000228340 (19:48724400 C>T), RS1000274117 (19:48723975 T>C), RS1000580411 (19:48724643 T>C), RS1000659642 (19:48722657 C>G,T), RS1000906373 (19:48722967 C>A), RS1000962579 (19:48729825 C>T), RS1000964668 (19:48723053 T>A), RS1000969087 (19:48729633 C>T), RS1001108060 (19:48729162 G>A), RS1001275986 (19:48740742 T>G), RS1001307678 (19:48728121 T>C,G), RS1001319689 (19:48733903 G>C), RS1001383061 (19:48735303 T>A), RS1001384672 (19:48735848 T>G)
Disease associations
OMIM: gene MIM:609623 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
36 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000847_1 | Retinal vascular caliber | 2.000000e-25 |
| GCST000879_14 | Crohn’s disease | 7.000000e-12 |
| GCST001241_6 | Bipolar disorder | 3.000000e-06 |
| GCST001844_2 | Dietary macronutrient intake | 8.000000e-09 |
| GCST002559_6 | Vitamin B levels in ischemic stroke | 9.000000e-07 |
| GCST002740_15 | Inflammatory skin disease | 4.000000e-22 |
| GCST003679_20 | C-reactive protein levels or LDL-cholesterol levels (pleiotropy) | 3.000000e-08 |
| GCST004131_128 | Inflammatory bowel disease | 5.000000e-06 |
| GCST004132_59 | Crohn’s disease | 4.000000e-11 |
| GCST004599_155 | Mean platelet volume | 1.000000e-11 |
| GCST006716_15 | Alcohol use disorder (total score) | 3.000000e-08 |
| GCST007483_34 | Waist-to-hip ratio adjusted for BMI (additive genetic model) | 2.000000e-09 |
| GCST007487_44 | Waist-to-hip ratio adjusted for BMI (additive genetic model) | 2.000000e-08 |
| GCST007500_36 | Waist-to-hip ratio adjusted for BMI (additive genetic model) | 3.000000e-09 |
| GCST007502_34 | Waist-to-hip ratio adjusted for BMI (additive genetic model) | 5.000000e-09 |
| GCST007876_80 | Estimated glomerular filtration rate | 5.000000e-08 |
| GCST008757_4 | Alcohol consumption | 3.000000e-15 |
| GCST008790_58 | Urinary albumin-to-creatinine ratio | 2.000000e-14 |
| GCST009731_12 | Blood protein levels in cardiovascular risk | 2.000000e-12 |
| GCST009731_76 | Blood protein levels in cardiovascular risk | 6.000000e-10 |
| GCST010132_5 | Processed meat consumption | 2.000000e-11 |
| GCST010134_4 | Non-oily fish consumption | 3.000000e-16 |
| GCST010135_4 | Oily fish consumption | 2.000000e-16 |
| GCST010136_42 | Fruit consumption | 3.000000e-10 |
| GCST010137_4 | Cooked vegetable consumption | 3.000000e-09 |
| GCST010140_48 | Pork consumption | 2.000000e-16 |
| GCST010142_1 | Fish- and plant-related diet | 7.000000e-13 |
| GCST010142_45 | Fish- and plant-related diet | 3.000000e-08 |
| GCST010142_68 | Fish- and plant-related diet | 6.000000e-10 |
| GCST010143_10 | Meat-related diet | 4.000000e-09 |
EFO canonical traits (15, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004731 | eye measurement |
| EFO:0003939 | energy intake |
| EFO:0004620 | vitamin B12 measurement |
| EFO:0004458 | C-reactive protein measurement |
| EFO:0004611 | low density lipoprotein cholesterol measurement |
| EFO:0009458 | alcohol use disorder measurement |
| EFO:0007788 | BMI-adjusted waist-hip ratio |
| EFO:0007778 | urinary albumin to creatinine ratio |
| EFO:0010621 | obsolete_stromelysin‐2 measurement |
| EFO:0008137 | galectin-3 measurement |
| EFO:0008111 | diet measurement |
| EFO:0006925 | lipoprotein A measurement |
| EFO:0004309 | platelet count |
| EFO:0004736 | aspartate aminotransferase measurement |
| EFO:0004532 | serum gamma-glutamyl transferase measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
23 total (human), top 23 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol A | increases expression, affects cotreatment | 2 |
| sodium arsenite | affects expression, increases expression | 2 |
| FR900359 | increases phosphorylation | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | decreases expression | 1 |
| butyraldehyde | increases expression | 1 |
| isobutyl alcohol | affects cotreatment, increases abundance, increases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| Sunitinib | increases expression | 1 |
| Vorinostat | decreases expression | 1 |
| Ethanol | affects cotreatment, increases abundance, increases expression | 1 |
| Arsenic | affects methylation | 1 |
| Atrazine | increases expression | 1 |
| Benzo(a)pyrene | affects methylation | 1 |
| Dichlorodiphenyl Dichloroethylene | decreases expression | 1 |
| Etoposide | affects response to substance | 1 |
| Gasoline | increases expression, affects cotreatment, increases abundance | 1 |
| Hydrogen Peroxide | affects expression | 1 |
| Phenolsulfonphthalein | affects cotreatment, increases expression | 1 |
| Polycyclic Aromatic Hydrocarbons | affects cotreatment, increases abundance, increases expression | 1 |
| Zinc | decreases expression | 1 |
| 8-Bromo Cyclic Adenosine Monophosphate | decreases expression | 1 |
| 1-Butanol | affects cotreatment, increases abundance, increases expression | 1 |
| Particulate Matter | increases expression, affects cotreatment, increases abundance | 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): atopic eczema