RALGAPA2
gene geneOn this page
Also known as dJ1049G11.4AS250KIAA1272RapGAPalpha2
Summary
RALGAPA2 (Ral GTPase activating protein catalytic subunit alpha 2, HGNC:16207) is a protein-coding gene on chromosome 20p11.23, encoding Ral GTPase-activating protein subunit alpha-2 (Q2PPJ7). Catalytic subunit of the heterodimeric RalGAP2 complex which acts as a GTPase activator for the Ras-like small GTPases RALA and RALB.
Predicted to enable GTPase activator activity and protein heterodimerization activity. Predicted to be involved in activation of GTPase activity. Predicted to act upstream of or within Ral protein signal transduction; regulation of exocyst localization; and regulation of protein localization. Located in cytosol and plasma membrane.
Source: NCBI Gene 57186 — RefSeq curated summary.
At a glance
- GWAS associations: 4
- Clinical variants (ClinVar): 342 total
- MANE Select transcript:
NM_020343
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:16207 |
| Approved symbol | RALGAPA2 |
| Name | Ral GTPase activating protein catalytic subunit alpha 2 |
| Location | 20p11.23 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | dJ1049G11.4, AS250, KIAA1272, RapGAPalpha2 |
| Ensembl gene | ENSG00000188559 |
| Ensembl biotype | protein_coding |
| OMIM | 618836 |
| Entrez | 57186 |
Gene structure
Transcript identifiers
Ensembl transcripts: 7 — 6 protein_coding, 1 retained_intron
ENST00000202677, ENST00000424981, ENST00000427175, ENST00000430436, ENST00000495793, ENST00000909985, ENST00000934890
RefSeq mRNA: 1 — MANE Select: NM_020343
NM_020343
CCDS: CCDS46584
Canonical transcript exons
ENST00000202677 — 40 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000660809 | 20505411 | 20505534 |
| ENSE00000660811 | 20512513 | 20513284 |
| ENSE00000660812 | 20520917 | 20521100 |
| ENSE00000660813 | 20524406 | 20524543 |
| ENSE00000660815 | 20526252 | 20526362 |
| ENSE00000660816 | 20531687 | 20531795 |
| ENSE00000660817 | 20535745 | 20535803 |
| ENSE00000660831 | 20620463 | 20620630 |
| ENSE00000660832 | 20629363 | 20629590 |
| ENSE00000660833 | 20635418 | 20635617 |
| ENSE00000859385 | 20495117 | 20495275 |
| ENSE00000859386 | 20503351 | 20503506 |
| ENSE00000859388 | 20511254 | 20511325 |
| ENSE00000859392 | 20524830 | 20524898 |
| ENSE00000859395 | 20536656 | 20536784 |
| ENSE00001129850 | 20611315 | 20611426 |
| ENSE00001205419 | 20616043 | 20616191 |
| ENSE00001205422 | 20619277 | 20619414 |
| ENSE00001205533 | 20412027 | 20412148 |
| ENSE00001205551 | 20472829 | 20472956 |
| ENSE00001355068 | 20546704 | 20546832 |
| ENSE00001355074 | 20571458 | 20571613 |
| ENSE00001355081 | 20572875 | 20573068 |
| ENSE00001355086 | 20583050 | 20583226 |
| ENSE00001355090 | 20584865 | 20584955 |
| ENSE00001419247 | 20591177 | 20591314 |
| ENSE00001419835 | 20589268 | 20589365 |
| ENSE00001423408 | 20571848 | 20571946 |
| ENSE00001543599 | 20396695 | 20396734 |
| ENSE00001594292 | 20680691 | 20680801 |
| ENSE00001603329 | 20640701 | 20640878 |
| ENSE00001611596 | 20676236 | 20676288 |
| ENSE00001640410 | 20653530 | 20653587 |
| ENSE00001771711 | 20712375 | 20712644 |
| ENSE00001774992 | 20389530 | 20393253 |
| ENSE00001787953 | 20643506 | 20643549 |
| ENSE00003621170 | 20601682 | 20601846 |
| ENSE00003631257 | 20605175 | 20605412 |
| ENSE00003708180 | 20639785 | 20639900 |
| ENSE00003710422 | 20637363 | 20637501 |
Expression profiles
Bgee: expression breadth ubiquitous, 254 present calls, max score 95.29.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 10.4276 / max 279.1550, expressed in 1632 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 186594 | 10.4276 | 1632 |
Top tissues by expression
261 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| tibialis anterior | UBERON:0001385 | 95.29 | gold quality |
| sperm | CL:0000019 | 95.06 | gold quality |
| pancreatic ductal cell | CL:0002079 | 94.79 | gold quality |
| deltoid | UBERON:0001476 | 93.77 | gold quality |
| nasal cavity epithelium | UBERON:0005384 | 93.57 | gold quality |
| ileal mucosa | UBERON:0000331 | 92.88 | gold quality |
| upper arm skin | UBERON:0004263 | 92.62 | gold quality |
| visceral pleura | UBERON:0002401 | 92.33 | gold quality |
| bronchial epithelial cell | CL:0002328 | 92.28 | gold quality |
| buccal mucosa cell | CL:0002336 | 91.95 | gold quality |
| bronchus | UBERON:0002185 | 91.93 | gold quality |
| vastus lateralis | UBERON:0001379 | 91.87 | gold quality |
| skeletal muscle tissue | UBERON:0001134 | 91.66 | gold quality |
| quadriceps femoris | UBERON:0001377 | 91.59 | gold quality |
| skeletal muscle organ | UBERON:0014892 | 90.46 | gold quality |
| gastrocnemius | UBERON:0001388 | 90.42 | gold quality |
| trabecular bone tissue | UBERON:0002483 | 90.38 | gold quality |
| muscle of leg | UBERON:0001383 | 90.18 | gold quality |
| muscle tissue | UBERON:0002385 | 90.16 | gold quality |
| ganglionic eminence | UBERON:0004023 | 89.53 | gold quality |
| embryo | UBERON:0000922 | 89.52 | gold quality |
| kidney epithelium | UBERON:0004819 | 89.46 | silver quality |
| ventricular zone | UBERON:0003053 | 89.34 | gold quality |
| biceps brachii | UBERON:0001507 | 89.33 | gold quality |
| mucosa of paranasal sinus | UBERON:0005030 | 89.13 | gold quality |
| parotid gland | UBERON:0001831 | 88.97 | gold quality |
| sural nerve | UBERON:0015488 | 88.75 | gold quality |
| liver | UBERON:0002107 | 88.69 | gold quality |
| pylorus | UBERON:0001166 | 88.68 | gold quality |
| blood | UBERON:0000178 | 88.58 | gold quality |
Single-cell (SCXA)
Detected in 4 experiment(s), a significant marker in 4.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-GEOD-135922 | yes | 35.34 |
| E-CURD-119 | yes | 17.22 |
| E-MTAB-6678 | yes | 13.72 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
143 targeting RALGAPA2, 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-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-4476 | 100.00 | 68.18 | 2030 |
| HSA-MIR-6876-5P | 100.00 | 67.68 | 2126 |
| HSA-MIR-4262 | 100.00 | 73.26 | 3931 |
| HSA-MIR-5193 | 100.00 | 67.26 | 1744 |
| 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-196A-1-3P | 99.99 | 72.15 | 2772 |
| HSA-MIR-27A-3P | 99.98 | 72.13 | 2955 |
| HSA-MIR-27B-3P | 99.98 | 72.13 | 2955 |
| HSA-MIR-9985 | 99.98 | 72.11 | 2939 |
| HSA-MIR-548P | 99.98 | 72.25 | 3784 |
| HSA-MIR-12136 | 99.98 | 72.81 | 5713 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-5696 | 99.98 | 72.36 | 4487 |
| HSA-MIR-4803 | 99.98 | 71.99 | 3117 |
| HSA-MIR-570-3P | 99.96 | 72.41 | 4910 |
| HSA-MIR-3658 | 99.96 | 73.87 | 4379 |
| HSA-MIR-1468-3P | 99.96 | 72.74 | 3797 |
| HSA-MIR-590-3P | 99.96 | 74.34 | 6478 |
| HSA-MIR-551B-5P | 99.96 | 71.28 | 3493 |
| HSA-MIR-545-3P | 99.95 | 70.74 | 2783 |
| HSA-MIR-128-3P | 99.95 | 71.17 | 2484 |
| HSA-MIR-216A-3P | 99.95 | 71.19 | 2505 |
| HSA-MIR-651-3P | 99.94 | 73.48 | 5177 |
| HSA-MIR-9718 | 99.94 | 68.91 | 918 |
| HSA-MIR-627-3P | 99.90 | 71.42 | 3316 |
| HSA-MIR-3529-3P | 99.90 | 73.55 | 3045 |
Literature-anchored findings (GeneRIF, showing 5)
- The cDNA sequence for human AS250 is reported, and the sites that undergo phosphorylation upon insulin treatment of adipocytes have been identified by tandem mass spectrometry. (PMID:16490346)
- Downregulation of Ral GTPase-activating protein promotes tumor invasion and metastasis of bladder cancer. (PMID:22450745)
- loss of RalGAP function has a distinct role in promoting progression from prostatic intraepithelial neoplasia to invasive adenocarcinoma. (PMID:31058283)
- Low RalGAPalpha2 expression was associated with a reduced survival rate in patients with oral squamous cell carcinoma (PMID:31329042)
- The interaction between MALAT1 target, miR-143-3p, and RALGAPA2 is affected by functional SNP rs3827693 in breast cancer. (PMID:32880825)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | ralgapa2 | ENSDARG00000005861 |
| mus_musculus | Ralgapa2 | ENSMUSG00000037110 |
| rattus_norvegicus | Ralgapa2 | ENSRNOG00000036964 |
| drosophila_melanogaster | CG5521 | FBGN0039466 |
| caenorhabditis_elegans | hgap-1 | WBGENE00021209 |
Paralogs (2): TSC2 (ENSG00000103197), RALGAPA1 (ENSG00000174373)
Protein
Protein identifiers
Ral GTPase-activating protein subunit alpha-2 — Q2PPJ7 (reviewed: Q2PPJ7)
Alternative names: 250 kDa substrate of Akt, p220
All UniProt accessions (4): A0A3B3IS41, Q2PPJ7, H7BZA8, H7C1F9
UniProt curated annotations — full annotation on UniProt →
Function. Catalytic subunit of the heterodimeric RalGAP2 complex which acts as a GTPase activator for the Ras-like small GTPases RALA and RALB.
Subunit / interactions. Component of the heterodimeric RalGAP2 complex with RALGAPB. Heterodimerization is required for activity.
Subcellular location. Cytoplasm.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q2PPJ7-1 | 1 | yes |
| Q2PPJ7-2 | 2 | |
| Q2PPJ7-3 | 3 |
RefSeq proteins (1): NP_065076* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000331 | Rap/Ran_GAP_dom | Domain |
| IPR016024 | ARM-type_fold | Homologous_superfamily |
| IPR027107 | Tuberin/Ral-act_asu | Family |
| IPR035974 | Rap/Ran-GAP_sf | Homologous_superfamily |
| IPR046859 | RGPA/RALGAPB_N | Domain |
Pfam: PF02145, PF20412
UniProt features (24 total): modified residue 9, compositionally biased region 6, region of interest 3, splice variant 2, chain 1, domain 1, sequence variant 1, sequence conflict 1
Structure
Experimental structures (PDB)
2 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 9QU1 | X-RAY DIFFRACTION | 2.72 |
| 9QWP | ELECTRON MICROSCOPY | 3.8 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q2PPJ7-F1 | 72.97 | 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.
Post-translational modifications (9): 373, 376, 379, 486, 696, 715, 820, 821, 1593
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-1445148 | Translocation of SLC2A4 (GLUT4) to the plasma membrane |
MSigDB gene sets: 113 (showing top):
WANG_CLIM2_TARGETS_UP, GOBP_ACTIVATION_OF_GTPASE_ACTIVITY, GOBP_REGULATION_OF_GTPASE_ACTIVITY, GOBP_REGULATION_OF_SMALL_GTPASE_MEDIATED_SIGNAL_TRANSDUCTION, REACTOME_MEMBRANE_TRAFFICKING, GOBP_POSITIVE_REGULATION_OF_CATALYTIC_ACTIVITY, GOBP_REGULATION_OF_HYDROLASE_ACTIVITY, GOBP_POSITIVE_REGULATION_OF_MOLECULAR_FUNCTION, NAKAMURA_TUMOR_ZONE_PERIPHERAL_VS_CENTRAL_DN, TAKEDA_TARGETS_OF_NUP98_HOXA9_FUSION_16D_DN, GOBP_SMALL_GTPASE_MEDIATED_SIGNAL_TRANSDUCTION, RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_DN, GOMF_PROTEIN_HETERODIMERIZATION_ACTIVITY, GOMF_PROTEIN_DIMERIZATION_ACTIVITY, NUYTTEN_NIPP1_TARGETS_DN
GO Biological Process (6): Ral protein signal transduction (GO:0032484), regulation of protein localization (GO:0032880), regulation of small GTPase mediated signal transduction (GO:0051056), regulation of exocyst localization (GO:0060178), activation of GTPase activity (GO:0090630), positive regulation of GTPase activity (GO:0043547)
GO Molecular Function (3): GTPase activator activity (GO:0005096), protein heterodimerization activity (GO:0046982), protein binding (GO:0005515)
GO Cellular Component (5): obsolete extracellular space (GO:0005615), nucleus (GO:0005634), cytoplasm (GO:0005737), cytosol (GO:0005829), plasma membrane (GO:0005886)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Membrane Trafficking | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| small GTPase-mediated signal transduction | 2 |
| regulation of localization | 2 |
| GTPase activity | 2 |
| cellular anatomical structure | 2 |
| intracellular protein localization | 1 |
| regulation of intracellular signal transduction | 1 |
| exocyst localization | 1 |
| positive regulation of GTPase activity | 1 |
| regulation of GTPase activity | 1 |
| positive regulation of hydrolase activity | 1 |
| enzyme activator activity | 1 |
| GTPase regulator activity | 1 |
| protein dimerization activity | 1 |
| binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| intracellular anatomical structure | 1 |
| cytoplasm | 1 |
| membrane | 1 |
| cell periphery | 1 |
Protein interactions and networks
STRING
588 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| RALGAPA2 | CFAP61 | Q8NHU2 | 495 |
| RALGAPA2 | RALGAPB | Q86X10 | 483 |
| RALGAPA2 | SLC25A13 | Q9UJS0 | 448 |
| RALGAPA2 | SPMAP2L | P0DJG4 | 441 |
| RALGAPA2 | FYB2 | Q5VWT5 | 417 |
| RALGAPA2 | CFAP418 | Q96NL8 | 409 |
| RALGAPA2 | SLC25A5 | P05141 | 404 |
| RALGAPA2 | RALA | P11233 | 400 |
| RALGAPA2 | NFX1 | Q12986 | 388 |
| RALGAPA2 | SLC34A2 | O95436 | 374 |
| RALGAPA2 | DCDC2C | A8MYV0 | 360 |
| RALGAPA2 | ORMDL2 | Q53FV1 | 356 |
| RALGAPA2 | ACOT8 | O14734 | 352 |
| RALGAPA2 | ARHGAP4 | P98171 | 350 |
| RALGAPA2 | MYEOV | Q96EZ4 | 338 |
IntAct
19 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| RALGAPA2 | DDI1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| GFOD1 | PER1 | psi-mi:“MI:0914”(association) | 0.530 |
| GFOD1 | RALGAPA2 | psi-mi:“MI:0914”(association) | 0.530 |
| NKIRAS2 | RALGAPA2 | psi-mi:“MI:0914”(association) | 0.530 |
| BMI1 | HMGB1P1 | psi-mi:“MI:0914”(association) | 0.350 |
| NKIRAS2 | RAP1GDS1 | psi-mi:“MI:0914”(association) | 0.350 |
| DPH7 | CCT2 | psi-mi:“MI:0914”(association) | 0.350 |
| DLG3 | DLG1 | psi-mi:“MI:0914”(association) | 0.350 |
| MTMR7 | RALGAPA2 | psi-mi:“MI:0914”(association) | 0.350 |
| DPH7 | RALGAPA2 | psi-mi:“MI:0914”(association) | 0.350 |
| GFOD1 | SBF1 | psi-mi:“MI:0914”(association) | 0.350 |
| GFOD1 | B4GAT1 | psi-mi:“MI:0914”(association) | 0.350 |
| NKIRAS2 | GABARAPL2 | psi-mi:“MI:0914”(association) | 0.350 |
| ORF66 | RALGAPA1 | psi-mi:“MI:0914”(association) | 0.350 |
| RALGAPB | DHX15 | psi-mi:“MI:0914”(association) | 0.350 |
| LAMP1 | TRAPPC13 | psi-mi:“MI:2364”(proximity) | 0.270 |
| RALGAPA2 | DDI1 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (53): RALGAPA2 (Affinity Capture-MS), RALGAPA2 (Affinity Capture-MS), RALGAPA2 (Affinity Capture-MS), RALGAPA2 (Affinity Capture-MS), RALGAPA2 (Affinity Capture-MS), RALGAPA2 (Affinity Capture-MS), RALGAPA2 (Affinity Capture-MS), RALGAPA2 (Proximity Label-MS), RALGAPA2 (Proximity Label-MS), RALGAPA2 (Proximity Label-MS), RALGAPA2 (Affinity Capture-RNA), RALGAPA2 (Synthetic Lethality), RALGAPA2 (Two-hybrid), RALGAPA2 (Affinity Capture-MS), RALGAPA2 (Affinity Capture-MS)
ESM2 similar proteins: A0A5F9C6I2, A1L3F5, A2BDA5, A3KGS3, A8E4X8, D3ZXK7, F1R7R1, O75129, P21359, P51593, P97526, Q04690, Q1JPG0, Q2PPJ7, Q3SZD5, Q4QQM5, Q4R5A4, Q5RC14, Q5XPI3, Q5XPI4, Q62717, Q66K64, Q6GLR7, Q6NXD8, Q6P4S8, Q6PFH3, Q6VNB8, Q7L4E1, Q7TMY8, Q7Z6Z7, Q80TJ1, Q86UW7, Q8BHR8, Q8BK03, Q8BYR5, Q8CDG3, Q8CF97, Q8CID0, Q8IY22, Q8IZQ1
Diamond homologs: A3KGS3, O55007, P49815, P86409, P86411, Q2PPJ7, Q3V0G7, Q54SS8, Q61037, Q6GYP7, Q6GYQ0, Q9UUG9, Q9VB98, A2ALS5, A5PF44, G3X9J0, O35412, O43166, O60292, P46062, P47736, Q54EH3, Q55AN8, Q5JCS6, Q5SVL6, Q5VVW2, Q5ZJY3, Q5ZMV8, Q684P5, Q75J96, Q80TE4, Q8C0T5, Q96FS4, Q9P2F8, P49816, Q54TK4
SIGNOR signaling
4 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| RALGAPA2 | “form complex” | RalGAP2 | binding |
| AKT2 | “down-regulates activity” | RALGAPA2 | phosphorylation |
Disease & clinical
Clinical variants and AI predictions
ClinVar
342 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 286 |
| Likely benign | 12 |
| Benign | 2 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
8696 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 20:20412160:G:T | acceptor_gain | 1.0000 |
| 20:20495112:CGTA:C | donor_loss | 1.0000 |
| 20:20495113:GTACC:G | donor_loss | 1.0000 |
| 20:20495114:TA:T | donor_loss | 1.0000 |
| 20:20495115:A:AC | donor_gain | 1.0000 |
| 20:20495115:AC:A | donor_gain | 1.0000 |
| 20:20495116:C:CC | donor_gain | 1.0000 |
| 20:20495116:CC:C | donor_gain | 1.0000 |
| 20:20495116:CCT:C | donor_gain | 1.0000 |
| 20:20495271:CGAAG:C | acceptor_gain | 1.0000 |
| 20:20495272:GAAG:G | acceptor_gain | 1.0000 |
| 20:20495273:AAG:A | acceptor_gain | 1.0000 |
| 20:20495273:AAGCT:A | acceptor_loss | 1.0000 |
| 20:20495274:AG:A | acceptor_gain | 1.0000 |
| 20:20495275:GCTGC:G | acceptor_loss | 1.0000 |
| 20:20495276:C:A | acceptor_loss | 1.0000 |
| 20:20495276:C:CC | acceptor_gain | 1.0000 |
| 20:20503346:CTTA:C | donor_loss | 1.0000 |
| 20:20503347:TTAC:T | donor_loss | 1.0000 |
| 20:20503349:ACCTT:A | donor_loss | 1.0000 |
| 20:20503350:C:A | donor_loss | 1.0000 |
| 20:20503518:C:CT | acceptor_gain | 1.0000 |
| 20:20503520:C:CT | acceptor_gain | 1.0000 |
| 20:20505013:TTTG:T | donor_gain | 1.0000 |
| 20:20505020:T:TA | donor_gain | 1.0000 |
| 20:20505530:CACGG:C | acceptor_gain | 1.0000 |
| 20:20505532:CGG:C | acceptor_gain | 1.0000 |
| 20:20505535:C:CC | acceptor_gain | 1.0000 |
| 20:20511246:T:A | donor_gain | 1.0000 |
| 20:20511249:CATA:C | donor_loss | 1.0000 |
AlphaMissense
12324 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 20:20511278:A:G | L1635P | 1.000 |
| 20:20495239:A:G | W1749R | 0.999 |
| 20:20495239:A:T | W1749R | 0.999 |
| 20:20572982:A:G | W932R | 0.999 |
| 20:20572982:A:T | W932R | 0.999 |
| 20:20573009:A:G | W923R | 0.999 |
| 20:20573009:A:T | W923R | 0.999 |
| 20:20640845:A:G | W136R | 0.999 |
| 20:20640845:A:T | W136R | 0.999 |
| 20:20712389:A:G | L31P | 0.999 |
| 20:20472871:G:T | A1818D | 0.998 |
| 20:20495189:A:C | F1765L | 0.998 |
| 20:20495189:A:T | F1765L | 0.998 |
| 20:20495191:A:G | F1765L | 0.998 |
| 20:20495274:A:G | L1737P | 0.998 |
| 20:20513224:A:G | L1382P | 0.998 |
| 20:20605295:A:G | W640R | 0.998 |
| 20:20605295:A:T | W640R | 0.998 |
| 20:20605397:A:G | W606R | 0.998 |
| 20:20605397:A:T | W606R | 0.998 |
| 20:20635507:A:G | W306R | 0.998 |
| 20:20635507:A:T | W306R | 0.998 |
| 20:20637486:A:G | W228R | 0.998 |
| 20:20637486:A:T | W228R | 0.998 |
| 20:20640866:C:G | G129R | 0.998 |
| 20:20640866:C:T | G129R | 0.998 |
| 20:20653548:A:G | W104R | 0.998 |
| 20:20653548:A:T | W104R | 0.998 |
| 20:20653580:A:G | L93P | 0.998 |
| 20:20412137:C:G | R1836P | 0.997 |
dbSNP variants (sampled 300 via entrez): RS1000038343 (20:20654741 T>A), RS1000042763 (20:20521923 T>C), RS1000043963 (20:20455095 T>C), RS1000091645 (20:20654990 G>C), RS1000099160 (20:20540238 A>C), RS1000106147 (20:20582519 A>G), RS1000111133 (20:20709722 C>G), RS1000113168 (20:20495043 C>G,T), RS1000134402 (20:20682032 G>A), RS1000162942 (20:20461866 G>C,T), RS1000168390 (20:20541854 C>A), RS1000188488 (20:20682295 C>T), RS1000226107 (20:20496921 G>A), RS1000227295 (20:20452255 A>C), RS1000247563 (20:20458840 C>A,G,T)
Disease associations
OMIM: gene MIM:618836 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
4 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST002386_15 | Cognitive function | 2.000000e-06 |
| GCST008163_382 | Height | 2.000000e-06 |
| GCST008839_37 | Height | 7.000000e-09 |
| GCST010136_17 | Fruit consumption | 3.000000e-08 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0003925 | cognition |
| EFO:0008111 | diet measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
PharmGKB variants
1 variants.
| Variant | Genes | Level | Score | #Clin annots | Drugs |
|---|---|---|---|---|---|
| rs3827963 | RALGAPA2 | 0.00 | 0 |
CTD chemical–gene interactions
43 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Benzo(a)pyrene | increases expression, affects methylation, decreases expression | 4 |
| methylmercuric chloride | decreases expression, increases expression | 3 |
| Air Pollutants | affects expression, increases abundance, decreases expression | 3 |
| Valproic Acid | affects expression, increases expression | 3 |
| sodium arsenite | increases abundance, decreases expression | 2 |
| Arsenic | affects methylation, decreases expression, increases abundance | 2 |
| Aflatoxin B1 | decreases methylation, increases methylation | 2 |
| aristolochic acid I | decreases expression | 1 |
| FR900359 | affects phosphorylation | 1 |
| dicrotophos | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| propionaldehyde | increases expression | 1 |
| bisphenol A | increases expression | 1 |
| 9,10-dihydro-9,10-dihydroxybenzo(a)pyrene | increases expression | 1 |
| benzo(e)pyrene | increases methylation | 1 |
| potassium chromate(VI) | affects cotreatment, decreases expression | 1 |
| nickel sulfate | decreases expression | 1 |
| epigallocatechin gallate | affects cotreatment, decreases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| entinostat | decreases expression | 1 |
| abrine | decreases expression | 1 |
| (+)-JQ1 compound | increases expression | 1 |
| Sunitinib | increases expression | 1 |
| Leflunomide | increases expression | 1 |
| Acetaminophen | decreases expression | 1 |
| Caffeine | affects phosphorylation | 1 |
| Calcitriol | increases expression, affects cotreatment | 1 |
| Cisplatin | decreases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Estradiol | affects cotreatment, 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.