RGL3
gene geneOn this page
Also known as FLJ32585
Summary
RGL3 (ral guanine nucleotide dissociation stimulator like 3, HGNC:30282) is a protein-coding gene on chromosome 19p13.2, encoding Ral guanine nucleotide dissociation stimulator-like 3 (Q3MIN7). Guanine nucleotide exchange factor (GEF) for Ral-A.
Predicted to enable guanyl-nucleotide exchange factor activity. Predicted to be involved in Ras protein signal transduction. Predicted to be located in cytosol. Predicted to be active in plasma membrane.
Source: NCBI Gene 57139 — RefSeq curated summary.
At a glance
- GWAS associations: 22
- Clinical variants (ClinVar): 184 total
- MANE Select transcript:
NM_001035223
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:30282 |
| Approved symbol | RGL3 |
| Name | ral guanine nucleotide dissociation stimulator like 3 |
| Location | 19p13.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ32585 |
| Ensembl gene | ENSG00000205517 |
| Ensembl biotype | protein_coding |
| OMIM | 616743 |
| Entrez | 57139 |
Gene structure
Transcript identifiers
Ensembl transcripts: 28 — 15 protein_coding, 7 retained_intron, 3 protein_coding_CDS_not_defined, 3 nonsense_mediated_decay
ENST00000380456, ENST00000393423, ENST00000453604, ENST00000561570, ENST00000561687, ENST00000562663, ENST00000563436, ENST00000563726, ENST00000565895, ENST00000566153, ENST00000566919, ENST00000567080, ENST00000567431, ENST00000568420, ENST00000568628, ENST00000569439, ENST00000589032, ENST00000853010, ENST00000853011, ENST00000853012, ENST00000853013, ENST00000920282, ENST00000920283, ENST00000920284, ENST00000920285, ENST00000920286, ENST00000971805, ENST00000971806
RefSeq mRNA: 2 — MANE Select: NM_001035223
NM_001035223, NM_001161616
CCDS: CCDS32910, CCDS54221
Canonical transcript exons
ENST00000380456 — 19 exons
| Exon | Start | End |
|---|---|---|
| ENSE00002597346 | 11394060 | 11394520 |
| ENSE00003477844 | 11402650 | 11402706 |
| ENSE00003489220 | 11402455 | 11402541 |
| ENSE00003492020 | 11419246 | 11419314 |
| ENSE00003495336 | 11406419 | 11406634 |
| ENSE00003495481 | 11402011 | 11402132 |
| ENSE00003503247 | 11399855 | 11399951 |
| ENSE00003505544 | 11416836 | 11417059 |
| ENSE00003507757 | 11406722 | 11406864 |
| ENSE00003543241 | 11400202 | 11400297 |
| ENSE00003555034 | 11416614 | 11416667 |
| ENSE00003575126 | 11397244 | 11397358 |
| ENSE00003610631 | 11405323 | 11405426 |
| ENSE00003636755 | 11418671 | 11418784 |
| ENSE00003638243 | 11402215 | 11402247 |
| ENSE00003650541 | 11405147 | 11405231 |
| ENSE00003674622 | 11397445 | 11397597 |
| ENSE00003677413 | 11400040 | 11400108 |
| ENSE00003790508 | 11415937 | 11416148 |
Expression profiles
Bgee: expression breadth ubiquitous, 178 present calls, max score 99.28.
FANTOM5 (CAGE): breadth broad, TPM avg 3.5413 / max 194.9024, expressed in 735 samples.
FANTOM5 promoters (6 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 179230 | 2.4465 | 641 |
| 179228 | 0.3217 | 156 |
| 179229 | 0.2708 | 150 |
| 179232 | 0.2531 | 145 |
| 179231 | 0.1531 | 73 |
| 179233 | 0.0961 | 36 |
Top tissues by expression
245 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| right lobe of thyroid gland | UBERON:0001119 | 99.28 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 99.17 | gold quality |
| metanephros cortex | UBERON:0010533 | 98.44 | gold quality |
| thyroid gland | UBERON:0002046 | 98.17 | gold quality |
| body of pancreas | UBERON:0001150 | 96.70 | gold quality |
| right uterine tube | UBERON:0001302 | 95.96 | gold quality |
| endocervix | UBERON:0000458 | 94.43 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 94.38 | gold quality |
| adenohypophysis | UBERON:0002196 | 94.18 | gold quality |
| right coronary artery | UBERON:0001625 | 94.01 | gold quality |
| right adrenal gland | UBERON:0001233 | 93.85 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 93.66 | gold quality |
| right lung | UBERON:0002167 | 93.61 | gold quality |
| left adrenal gland | UBERON:0001234 | 93.54 | gold quality |
| apex of heart | UBERON:0002098 | 93.34 | gold quality |
| right lobe of liver | UBERON:0001114 | 93.30 | gold quality |
| adult mammalian kidney | UBERON:0000082 | 92.70 | gold quality |
| pituitary gland | UBERON:0000007 | 92.41 | gold quality |
| right atrium auricular region | UBERON:0006631 | 92.15 | gold quality |
| adrenal cortex | UBERON:0001235 | 91.99 | gold quality |
| pancreatic ductal cell | CL:0002079 | 91.82 | silver quality |
| body of stomach | UBERON:0001161 | 91.74 | gold quality |
| left coronary artery | UBERON:0001626 | 91.59 | gold quality |
| ascending aorta | UBERON:0001496 | 91.57 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 91.57 | gold quality |
| thoracic aorta | UBERON:0001515 | 91.42 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 91.32 | gold quality |
| adrenal gland | UBERON:0002369 | 90.91 | gold quality |
| aorta | UBERON:0000947 | 90.70 | gold quality |
| omental fat pad | UBERON:0010414 | 90.60 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-GEOD-111727 | yes | 33.16 |
| E-ANND-3 | yes | 6.55 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
33 targeting RGL3, 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-6825-5P | 99.96 | 69.81 | 3431 |
| HSA-MIR-4648 | 99.91 | 67.00 | 710 |
| HSA-MIR-4728-5P | 99.85 | 69.39 | 4718 |
| HSA-MIR-6785-5P | 99.82 | 68.68 | 4428 |
| HSA-MIR-6505-5P | 99.73 | 69.25 | 1595 |
| HSA-MIR-149-3P | 99.72 | 68.22 | 3963 |
| HSA-MIR-4729 | 99.69 | 72.18 | 4233 |
| HSA-MIR-6883-5P | 99.69 | 68.05 | 3785 |
| HSA-MIR-4516 | 99.61 | 67.78 | 3390 |
| HSA-MIR-1249-5P | 99.61 | 66.55 | 2049 |
| HSA-MIR-6797-5P | 99.61 | 66.55 | 2084 |
| HSA-MIR-548V | 99.29 | 69.47 | 1157 |
| HSA-MIR-6744-3P | 99.22 | 64.41 | 972 |
| HSA-MIR-4757-5P | 99.12 | 64.51 | 981 |
| HSA-MIR-4758-3P | 99.12 | 63.96 | 869 |
| HSA-MIR-4711-3P | 98.97 | 66.87 | 1020 |
| HSA-MIR-4656 | 98.79 | 66.22 | 1306 |
| HSA-MIR-330-5P | 98.73 | 67.63 | 1788 |
| HSA-MIR-323A-5P | 98.59 | 65.13 | 651 |
| HSA-MIR-6764-3P | 98.44 | 67.64 | 1153 |
| HSA-MIR-6824-3P | 98.44 | 67.62 | 1154 |
| HSA-MIR-581 | 98.39 | 67.42 | 835 |
| HSA-MIR-326 | 98.25 | 66.44 | 1565 |
| HSA-MIR-6773-3P | 98.17 | 65.51 | 1213 |
| HSA-MIR-615-5P | 98.10 | 63.76 | 591 |
| HSA-MIR-637 | 97.91 | 64.05 | 1517 |
| HSA-MIR-665 | 97.60 | 65.64 | 1781 |
| HSA-MIR-3620-5P | 97.42 | 63.95 | 792 |
| HSA-MIR-1587 | 96.95 | 64.03 | 932 |
| HSA-MIR-5702 | 96.68 | 68.21 | 958 |
Cross-species orthologs
2 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Rgl3 | ENSMUSG00000040146 |
| rattus_norvegicus | Ralgdsl3 | ENSRNOG00000013027 |
Paralogs (24): RASGRF1 (ENSG00000058335), RASGRP2 (ENSG00000068831), RAPGEF3 (ENSG00000079337), RAPGEF4 (ENSG00000091428), SOS2 (ENSG00000100485), RAPGEF1 (ENSG00000107263), RAPGEFL1 (ENSG00000108352), RAPGEF2 (ENSG00000109756), RASGRF2 (ENSG00000113319), SOS1 (ENSG00000115904), RALGPS2 (ENSG00000116191), RAPGEF5 (ENSG00000136237), RALGPS1 (ENSG00000136828), RASGEF1B (ENSG00000138670), RGL1 (ENSG00000143344), RASGEF1C (ENSG00000146090), RASGRP3 (ENSG00000152689), RAPGEF6 (ENSG00000158987), RGL4 (ENSG00000159496), RALGDS (ENSG00000160271), RASGRP4 (ENSG00000171777), RASGRP1 (ENSG00000172575), RASGEF1A (ENSG00000198915), RGL2 (ENSG00000237441)
Protein
Protein identifiers
Ral guanine nucleotide dissociation stimulator-like 3 — Q3MIN7 (reviewed: Q3MIN7)
All UniProt accessions (6): H3BN42, H3BQS8, H3BRW0, K7EIS7, K7EMV7, Q3MIN7
UniProt curated annotations — full annotation on UniProt →
Function. Guanine nucleotide exchange factor (GEF) for Ral-A. Potential effector of GTPase HRas and Ras-related protein M-Ras. Negatively regulates Elk-1-dependent gene induction downstream of HRas and MEKK1.
Subunit / interactions. Interacts with GTP-bound forms of RIT1, HRAS and MRAS.
Domain organisation. The Ras-associating domain plays a central role in the activation of Ral-A GDP/GTP exchange activity.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q3MIN7-1 | 1 | yes |
| Q3MIN7-2 | 2 |
RefSeq proteins (2): NP_001030300, NP_001155088 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000159 | RA_dom | Domain |
| IPR000651 | Ras-like_Gua-exchang_fac_N | Domain |
| IPR001895 | RASGEF_cat_dom | Domain |
| IPR008937 | Ras-like_GEF | Family |
| IPR019804 | Ras_G-nucl-exch_fac_CS | Conserved_site |
| IPR023578 | Ras_GEF_dom_sf | Homologous_superfamily |
| IPR029071 | Ubiquitin-like_domsf | Homologous_superfamily |
| IPR030750 | RGL3_RA | Domain |
| IPR036964 | RASGEF_cat_dom_sf | Homologous_superfamily |
Pfam: PF00617, PF00618, PF00788
UniProt features (26 total): modified residue 8, compositionally biased region 5, region of interest 5, domain 3, sequence variant 3, chain 1, splice variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q3MIN7-F1 | 73.21 | 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): 52, 508, 512, 555, 569, 573, 591, 601
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-5673001 | RAF/MAP kinase cascade |
MSigDB gene sets: 57 (showing top):
MODULE_169, GOMF_GTPASE_BINDING, GOBP_RAS_PROTEIN_SIGNAL_TRANSDUCTION, GOBP_SMALL_GTPASE_MEDIATED_SIGNAL_TRANSDUCTION, NUYTTEN_EZH2_TARGETS_DN, GOMF_GUANYL_NUCLEOTIDE_EXCHANGE_FACTOR_ACTIVITY, chr19p13, GOMF_NUCLEOSIDE_TRIPHOSPHATASE_REGULATOR_ACTIVITY, GOMF_ENZYME_REGULATOR_ACTIVITY, MODULE_456, LEE_BMP2_TARGETS_UP, RATTENBACHER_BOUND_BY_CELF1, ZWANG_TRANSIENTLY_UP_BY_2ND_EGF_PULSE_ONLY, REACTOME_MAPK_FAMILY_SIGNALING_CASCADES, ESC_J1_UP_LATE.V1_UP
GO Biological Process (3): Ras protein signal transduction (GO:0007265), signal transduction (GO:0007165), small GTPase-mediated signal transduction (GO:0007264)
GO Molecular Function (3): guanyl-nucleotide exchange factor activity (GO:0005085), small GTPase binding (GO:0031267), protein binding (GO:0005515)
GO Cellular Component (2): cytosol (GO:0005829), plasma membrane (GO:0005886)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| MAPK1/MAPK3 signaling | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| small GTPase-mediated signal transduction | 1 |
| cell communication | 1 |
| cellular process | 1 |
| signaling | 1 |
| regulation of cellular process | 1 |
| cellular response to stimulus | 1 |
| intracellular signaling cassette | 1 |
| GTP binding | 1 |
| GDP binding | 1 |
| GTPase regulator activity | 1 |
| GTPase binding | 1 |
| binding | 1 |
| cytoplasm | 1 |
| cellular anatomical structure | 1 |
| membrane | 1 |
| cell periphery | 1 |
Protein interactions and networks
STRING
458 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| RGL3 | RALA | P11233 | 615 |
| RGL3 | RALB | P11234 | 605 |
| RGL3 | ARAF | P07557 | 533 |
| RGL3 | KRAS | P01116 | 519 |
| RGL3 | RAF1 | P04049 | 519 |
| RGL3 | RALGAPB | Q86X10 | 515 |
| RGL3 | BRAF | P15056 | 514 |
| RGL3 | RGL2 | O15211 | 487 |
| RGL3 | RIT1 | Q92963 | 476 |
| RGL3 | RRAS | P10301 | 462 |
| RGL3 | FIGNL2 | A6NMB9 | 445 |
| RGL3 | RGL1 | Q9NZL6 | 436 |
| RGL3 | MAP2K1 | Q02750 | 429 |
| RGL3 | RALGAPA1 | Q6GYQ0 | 412 |
| RGL3 | RRAS2 | P17082 | 393 |
IntAct
61 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| HRAS | RAF1 | psi-mi:“MI:0914”(association) | 0.980 |
| RFXANK | RFXAP | psi-mi:“MI:0914”(association) | 0.780 |
| HRAS | RGL2 | psi-mi:“MI:0914”(association) | 0.660 |
| RGL3 | RRAS2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| RGL3 | RIT2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| RGL3 | KLHL12 | psi-mi:“MI:0915”(physical association) | 0.560 |
| RGL3 | FAM200A | psi-mi:“MI:0915”(physical association) | 0.560 |
| RGL3 | RIT1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| RRAS2 | RGL3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| NRAS | RGL3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| HSPB8 | VWA8 | psi-mi:“MI:0914”(association) | 0.530 |
| ZNRD2 | MYO9A | psi-mi:“MI:0914”(association) | 0.530 |
| RGL3 | CHCHD3 | psi-mi:“MI:0915”(physical association) | 0.400 |
| B4GALT2 | LENG9 | psi-mi:“MI:0914”(association) | 0.350 |
| NPAS1 | CIBAR1 | psi-mi:“MI:0914”(association) | 0.350 |
| INF2 | PIPSL | psi-mi:“MI:0914”(association) | 0.350 |
| PLEKHG7 | MROH6 | psi-mi:“MI:0914”(association) | 0.350 |
| EEF1AKMT3 | SMCHD1 | psi-mi:“MI:0914”(association) | 0.350 |
| HES6 | RGPD3 | psi-mi:“MI:0914”(association) | 0.350 |
| UBXN6 | ZSWIM8 | psi-mi:“MI:0914”(association) | 0.350 |
| CLASRP | ZSWIM8 | psi-mi:“MI:0914”(association) | 0.350 |
| D2HGDH | ZSWIM8 | psi-mi:“MI:0914”(association) | 0.350 |
| PLBD1 | ZSWIM8 | psi-mi:“MI:0914”(association) | 0.350 |
| PSG11 | ZSWIM8 | psi-mi:“MI:0914”(association) | 0.350 |
| C9orf163 | ZSWIM8 | psi-mi:“MI:0914”(association) | 0.350 |
| SULT1C4 | ZSWIM8 | psi-mi:“MI:0914”(association) | 0.350 |
| CRYBB3 | ARHGAP32 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (49): RGL3 (Two-hybrid), RGL3 (Two-hybrid), RGL3 (Two-hybrid), RGL3 (Two-hybrid), NRAS (Two-hybrid), FAM200A (Two-hybrid), CHCHD3 (Proximity Label-MS), RGL3 (Affinity Capture-MS), RGL3 (Affinity Capture-MS), RGL3 (Affinity Capture-MS), RGL3 (Affinity Capture-MS), RGL3 (Affinity Capture-MS), RGL3 (Affinity Capture-MS), RGL3 (Affinity Capture-MS), RGL3 (Affinity Capture-MS)
ESM2 similar proteins: A3R064, A7MBB8, B2RYG7, D3ZZN9, E1BDF2, O60496, O70469, O94989, O95153, P97465, P97680, P98077, Q13671, Q14B98, Q1RMU7, Q3MIN7, Q3UR97, Q3UYI5, Q494U1, Q4QQV2, Q58EX7, Q5EA84, Q5FWH6, Q6ICB4, Q6PGG2, Q6ZW31, Q7L591, Q7TNF8, Q8BH49, Q8BWA8, Q8IW93, Q8IYJ3, Q8N878, Q8NAG6, Q8NFA2, Q91WA6, Q921Q7, Q92502, Q969H4, Q969T3
Diamond homologs: A2AR50, A2CEA7, B0M0P8, B0UXH6, F1M386, F1MSG6, F1PBJ0, O14827, P27671, P28818, P70392, Q03385, Q03386, Q07889, Q07890, Q12967, Q13905, Q13972, Q3MIN7, Q3UYI5, Q4R7W3, Q54FF3, Q54PQ4, Q54TK8, Q552M5, Q55GH9, Q5JS13, Q5ZJK0, Q60695, Q86G47, Q86X27, Q8CHG7, Q8IS14, Q8IS15, Q8IS16, Q8IS18, Q8IS20, Q8IS21, Q8SSQ0, Q8SSW7
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 73 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| Ras protein signal transduction | 7 | 21.8× | 1e-05 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
184 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 141 |
| Likely benign | 11 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
3547 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 19:11400035:CTCA:C | donor_loss | 1.0000 |
| 19:11400036:TCACC:T | donor_loss | 1.0000 |
| 19:11400037:CA:C | donor_loss | 1.0000 |
| 19:11400038:A:T | donor_loss | 1.0000 |
| 19:11400039:C:A | donor_loss | 1.0000 |
| 19:11400105:CTTC:C | acceptor_gain | 1.0000 |
| 19:11400108:CCTAA:C | acceptor_loss | 1.0000 |
| 19:11400109:C:CA | acceptor_loss | 1.0000 |
| 19:11400109:C:CC | acceptor_gain | 1.0000 |
| 19:11400110:T:A | acceptor_loss | 1.0000 |
| 19:11400200:A:AC | donor_gain | 1.0000 |
| 19:11400201:C:CA | donor_gain | 1.0000 |
| 19:11400201:CG:C | donor_gain | 1.0000 |
| 19:11400201:CGCA:C | donor_gain | 1.0000 |
| 19:11400204:A:AC | donor_gain | 1.0000 |
| 19:11400205:C:CC | donor_gain | 1.0000 |
| 19:11400307:CAATA:C | acceptor_gain | 1.0000 |
| 19:11400308:A:T | acceptor_gain | 1.0000 |
| 19:11400309:A:AC | acceptor_gain | 1.0000 |
| 19:11400311:A:AC | acceptor_gain | 1.0000 |
| 19:11400311:A:C | acceptor_gain | 1.0000 |
| 19:11400322:G:GC | acceptor_gain | 1.0000 |
| 19:11402645:CTCA:C | donor_gain | 1.0000 |
| 19:11402646:TCA:T | donor_loss | 1.0000 |
| 19:11402647:CACTG:C | donor_loss | 1.0000 |
| 19:11402648:A:AC | donor_gain | 1.0000 |
| 19:11402648:ACT:A | donor_loss | 1.0000 |
| 19:11402649:C:CA | donor_gain | 1.0000 |
| 19:11402649:CT:C | donor_gain | 1.0000 |
| 19:11402649:CTG:C | donor_gain | 1.0000 |
AlphaMissense
4565 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 19:11406436:A:G | W327R | 0.998 |
| 19:11406436:A:T | W327R | 0.998 |
| 19:11406521:G:C | F298L | 0.998 |
| 19:11406521:G:T | F298L | 0.998 |
| 19:11406523:A:G | F298L | 0.998 |
| 19:11405406:G:C | N339K | 0.997 |
| 19:11405406:G:T | N339K | 0.997 |
| 19:11405421:G:C | C334W | 0.995 |
| 19:11405374:A:G | L350P | 0.994 |
| 19:11402224:C:A | K451N | 0.993 |
| 19:11402224:C:G | K451N | 0.993 |
| 19:11405403:G:C | F340L | 0.993 |
| 19:11405403:G:T | F340L | 0.993 |
| 19:11405405:A:G | F340L | 0.993 |
| 19:11406423:G:T | A331D | 0.993 |
| 19:11406738:A:G | L255P | 0.993 |
| 19:11405337:C:A | W362C | 0.992 |
| 19:11405337:C:G | W362C | 0.992 |
| 19:11405423:A:G | C334R | 0.992 |
| 19:11405369:A:G | S352P | 0.991 |
| 19:11405377:G:T | A349D | 0.991 |
| 19:11406434:C:A | W327C | 0.991 |
| 19:11406434:C:G | W327C | 0.991 |
| 19:11406747:G:T | A252D | 0.991 |
| 19:11405339:A:G | W362R | 0.990 |
| 19:11405339:A:T | W362R | 0.990 |
| 19:11406455:C:A | R320S | 0.989 |
| 19:11406455:C:G | R320S | 0.989 |
| 19:11400286:G:A | S499F | 0.988 |
| 19:11402233:G:C | N448K | 0.988 |
dbSNP variants (sampled 300 via entrez): RS1000279978 (19:11408890 G>A), RS1000471249 (19:11408584 C>A), RS1000538774 (19:11395367 G>A), RS1000614110 (19:11407725 C>T), RS1000804433 (19:11418553 C>T), RS1000877719 (19:11418159 C>A), RS1000913166 (19:11401605 T>C), RS1001027550 (19:11401007 G>A), RS1001077940 (19:11400747 G>A,C), RS1001169516 (19:11397492 G>A,T), RS1001303959 (19:11406650 G>A,C), RS1001378226 (19:11412763 G>A), RS1001535896 (19:11409992 G>A), RS1001615312 (19:11398281 C>G), RS1001677547 (19:11402946 A>G)
Disease associations
OMIM: gene MIM:616743 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
22 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST004279_38 | Systolic blood pressure | 7.000000e-09 |
| GCST005194_32 | Coronary artery disease | 2.000000e-06 |
| GCST006020_14 | Diastolic blood pressure | 3.000000e-32 |
| GCST006021_16 | Systolic blood pressure | 9.000000e-27 |
| GCST006022_14 | Pulse pressure | 6.000000e-07 |
| GCST006023_10 | Hypertension | 3.000000e-15 |
| GCST006227_15 | Diastolic blood pressure | 4.000000e-28 |
| GCST006228_16 | Systolic blood pressure | 1.000000e-23 |
| GCST006229_5 | Hypertension | 1.000000e-14 |
| GCST006231_4 | Mean arterial pressure | 7.000000e-11 |
| GCST007094_100 | Diastolic blood pressure | 4.000000e-22 |
| GCST007096_156 | Pulse pressure | 3.000000e-08 |
| GCST007099_210 | Systolic blood pressure | 2.000000e-21 |
| GCST007267_153 | Systolic blood pressure | 4.000000e-36 |
| GCST007927_50 | Medication use (beta blocking agents) | 5.000000e-12 |
| GCST007928_53 | Medication use (diuretics) | 8.000000e-13 |
| GCST007929_21 | Medication use (calcium channel blockers) | 1.000000e-15 |
| GCST007930_91 | Medication use (agents acting on the renin-angiotensin system) | 1.000000e-24 |
| GCST009685_26 | Hypertension | 8.000000e-16 |
| GCST011141_19 | Hypertension | 2.000000e-08 |
| GCST90002390_522 | Mean corpuscular hemoglobin | 1.000000e-11 |
| GCST90002392_61 | Mean corpuscular volume | 1.000000e-09 |
EFO canonical traits (9, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0006335 | systolic blood pressure |
| EFO:0006336 | diastolic blood pressure |
| EFO:0005763 | pulse pressure measurement |
| EFO:0006340 | mean arterial pressure |
| EFO:0009929 | Beta blocking agent use measurement |
| EFO:0009928 | Diuretic use measurement |
| EFO:0009930 | Calcium channel blocker use measurement |
| EFO:0009931 | Agents acting on the renin-angiotensin system use measurement |
| EFO:0004527 | mean corpuscular hemoglobin |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
29 total (human), top 29 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Benzo(a)pyrene | increases methylation, affects methylation, decreases expression | 3 |
| entinostat | increases expression, affects cotreatment | 2 |
| Valproic Acid | affects cotreatment, increases expression | 2 |
| bufotalin | decreases expression | 1 |
| methylmercuric chloride | increases expression | 1 |
| pirinixic acid | increases activity, increases expression, affects binding | 1 |
| bisphenol A | decreases methylation | 1 |
| sodium arsenite | decreases expression | 1 |
| butyraldehyde | decreases expression | 1 |
| benzo(e)pyrene | decreases methylation | 1 |
| aflatoxin B2 | decreases methylation | 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 |
| dorsomorphin | affects cotreatment, increases expression | 1 |
| jinfukang | affects cotreatment, increases expression | 1 |
| Sunitinib | increases expression | 1 |
| Air Pollutants | affects expression, increases abundance | 1 |
| Arsenic | increases methylation | 1 |
| Caffeine | affects phosphorylation | 1 |
| Cisplatin | increases expression, affects cotreatment | 1 |
| Estradiol | affects cotreatment, decreases expression | 1 |
| Methapyrilene | decreases methylation | 1 |
| Ozone | affects expression, increases abundance | 1 |
| Phenylmercuric Acetate | affects cotreatment, increases expression | 1 |
| Testosterone | increases expression | 1 |
| Tobacco Smoke Pollution | decreases expression | 1 |
| Tretinoin | increases expression | 1 |
| Triclosan | decreases expression | 1 |
| Okadaic Acid | decreases expression | 1 |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.