PIK3R6
gene geneOn this page
Also known as FLJ34500HsT41028p87PIKAP
Summary
PIK3R6 (phosphoinositide-3-kinase regulatory subunit 6, HGNC:27101) is a protein-coding gene on chromosome 17p13.1, encoding Phosphoinositide 3-kinase regulatory subunit 6 (Q5UE93). Regulatory subunit of the PI3K gamma complex.
Phosphoinositide 3-kinase gamma is a lipid kinase that produces the lipid second messenger phosphatidylinositol 3,4,5-trisphosphate. The kinase is composed of a catalytic subunit and one of several regulatory subunits, and is chiefly activated by G protein-coupled receptors. This gene encodes a regulatory subunit, and is distantly related to the phosphoinositide-3-kinase, regulatory subunit 5 gene which is located adjacent to this gene on chromosome 7. The orthologous protein in the mouse binds to both the catalytic subunit and to G(beta/gamma), and mediates activation of the kinase subunit downstream of G protein-coupled receptors. Alternative splicing results in multiple transcript variants.
Source: NCBI Gene 146850 — RefSeq curated summary.
At a glance
- GWAS associations: 1
- Clinical variants (ClinVar): 130 total
- MANE Select transcript:
NM_001010855
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:27101 |
| Approved symbol | PIK3R6 |
| Name | phosphoinositide-3-kinase regulatory subunit 6 |
| Location | 17p13.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ34500, HsT41028, p87PIKAP |
| Ensembl gene | ENSG00000276231 |
| Ensembl biotype | protein_coding |
| OMIM | 611462 |
| Entrez | 146850 |
Gene structure
Transcript identifiers
Ensembl transcripts: 6 — 4 protein_coding, 2 nonsense_mediated_decay
ENST00000611951, ENST00000613555, ENST00000619866, ENST00000907451, ENST00000907452, ENST00000907453
RefSeq mRNA: 2 — MANE Select: NM_001010855
NM_001010855, NM_001290211
CCDS: CCDS73985
Canonical transcript exons
ENST00000619866 — 20 exons
| Exon | Start | End |
|---|---|---|
| ENSE00003711945 | 8829706 | 8829792 |
| ENSE00003712013 | 8821846 | 8821936 |
| ENSE00003712353 | 8835273 | 8835456 |
| ENSE00003718901 | 8827172 | 8827294 |
| ENSE00003722091 | 8828567 | 8828990 |
| ENSE00003722696 | 8832889 | 8833045 |
| ENSE00003724569 | 8836547 | 8836616 |
| ENSE00003725179 | 8837803 | 8837871 |
| ENSE00003728741 | 8849782 | 8849885 |
| ENSE00003731252 | 8823387 | 8823497 |
| ENSE00003734103 | 8804041 | 8804153 |
| ENSE00003737438 | 8819083 | 8819198 |
| ENSE00003743098 | 8802722 | 8803429 |
| ENSE00003743812 | 8822587 | 8822657 |
| ENSE00003745735 | 8828112 | 8828190 |
| ENSE00003746402 | 8822996 | 8823086 |
| ENSE00003752469 | 8836791 | 8836923 |
| ENSE00003752662 | 8838564 | 8838655 |
| ENSE00003754856 | 8839614 | 8839697 |
| ENSE00003897457 | 8867529 | 8867674 |
Expression profiles
Bgee: expression breadth ubiquitous, 156 present calls, max score 79.83.
FANTOM5 (CAGE): breadth broad, TPM avg 6.0397 / max 435.9539, expressed in 479 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 164455 | 6.0397 | 479 |
Top tissues by expression
241 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| granulocyte | CL:0000094 | 79.83 | gold quality |
| monocyte | CL:0000576 | 79.72 | gold quality |
| leukocyte | CL:0000738 | 79.43 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 75.70 | gold quality |
| spleen | UBERON:0002106 | 73.15 | gold quality |
| vermiform appendix | UBERON:0001154 | 72.24 | gold quality |
| apex of heart | UBERON:0002098 | 72.16 | gold quality |
| blood | UBERON:0000178 | 71.71 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 69.66 | gold quality |
| gall bladder | UBERON:0002110 | 68.50 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 66.83 | gold quality |
| lymph node | UBERON:0000029 | 66.67 | gold quality |
| bone marrow cell | CL:0002092 | 66.39 | silver quality |
| mucosa of transverse colon | UBERON:0004991 | 65.68 | gold quality |
| caecum | UBERON:0001153 | 65.35 | gold quality |
| small intestine | UBERON:0002108 | 65.33 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 65.10 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 64.54 | gold quality |
| lower esophagus | UBERON:0013473 | 64.53 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 64.47 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 64.27 | gold quality |
| ganglionic eminence | UBERON:0004023 | 64.00 | gold quality |
| heart left ventricle | UBERON:0002084 | 63.96 | gold quality |
| right coronary artery | UBERON:0001625 | 63.50 | gold quality |
| upper lobe of lung | UBERON:0008948 | 63.37 | gold quality |
| cardiac ventricle | UBERON:0002082 | 63.16 | gold quality |
| putamen | UBERON:0001874 | 62.92 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 62.82 | gold quality |
| rectum | UBERON:0001052 | 62.68 | gold quality |
| esophagus | UBERON:0001043 | 62.07 | gold quality |
Single-cell (SCXA)
Detected in 4 experiment(s), a significant marker in 4.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-6678 | yes | 23.57 |
| E-MTAB-9067 | yes | 15.35 |
| E-ANND-3 | yes | 6.86 |
| E-MTAB-9801 | yes | 6.35 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
66 targeting PIK3R6, 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-4481 | 100.00 | 66.42 | 1669 |
| HSA-MIR-6833-3P | 100.00 | 70.63 | 3197 |
| HSA-MIR-4768-5P | 100.00 | 69.49 | 2861 |
| HSA-MIR-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-4747-5P | 100.00 | 67.90 | 2681 |
| HSA-MIR-5196-5P | 100.00 | 67.98 | 2761 |
| HSA-MIR-4745-5P | 99.98 | 65.95 | 1028 |
| HSA-MIR-493-5P | 99.96 | 72.47 | 2382 |
| HSA-MIR-4492 | 99.87 | 68.25 | 3611 |
| HSA-MIR-4728-5P | 99.85 | 69.39 | 4718 |
| HSA-MIR-6756-5P | 99.82 | 67.97 | 2466 |
| HSA-MIR-6785-5P | 99.82 | 68.68 | 4428 |
| HSA-MIR-92A-2-5P | 99.75 | 67.01 | 2164 |
| HSA-MIR-7856-5P | 99.75 | 69.99 | 2901 |
| HSA-MIR-149-3P | 99.72 | 68.22 | 3963 |
| HSA-MIR-3659 | 99.70 | 67.97 | 694 |
| HSA-MIR-6883-5P | 99.69 | 68.05 | 3785 |
| HSA-MIR-4729 | 99.69 | 72.18 | 4233 |
| HSA-MIR-6766-5P | 99.68 | 67.70 | 2325 |
| HSA-MIR-646 | 99.68 | 67.84 | 1645 |
| HSA-MIR-3177-5P | 99.65 | 70.38 | 1174 |
| HSA-MIR-6134 | 99.63 | 65.68 | 1537 |
| HSA-MIR-142-3P | 99.62 | 71.30 | 974 |
| HSA-MIR-762 | 99.58 | 66.61 | 1994 |
| HSA-MIR-4276 | 99.56 | 67.66 | 2514 |
| HSA-MIR-4687-3P | 99.48 | 66.41 | 968 |
| HSA-MIR-4498 | 99.47 | 67.42 | 2360 |
| HSA-MIR-190B-3P | 99.33 | 68.29 | 1382 |
| HSA-MIR-6719-3P | 99.29 | 67.78 | 1387 |
| HSA-MIR-6731-5P | 99.28 | 67.42 | 2375 |
Literature-anchored findings (GeneRIF, showing 10)
- p87PIKAP is a novel regulatory subunit of phosphoinositide 3-kinase gamma that is highly expressed in heart and interacts with PDE3B [p87PIKAP] (PMID:16476736)
- ablation of PI3Kgamma reduced SDF1alpha-induced integrin activation in human EPCs and in murine Lin(-) BM-derived progenitor cells (PMID:18323525)
- RACK1 regulates directional cell migration by acting on G betagamma at the interface with its effectors PLC beta and PI3K gamma (PMID:18596232)
- knockdown of p84 in MDA-MB-231 cells enhanced Akt phosphorylation and lung colonization (PMID:21996737)
- GPCR activation of Ras and PI3Kc in neutrophils depends on PLCb2/b3 and the RasGEF RasGRP4. (PMID:22728827)
- expression and activities of PI3Kgamma are modified differently by p87 and p101 in vitro and in living cells, arguing for specific regulatory roles of the non-catalytic subunits in the differentiation of PI3Kgamma signaling pathways. (PMID:24014027)
- Our findings suggest that p84 binding to p110gamma may represent a novel negative feedback signal that terminates PI3Kgamma activity. (PMID:25753393)
- RBBP6 aggravates the progression of ovarian cancer by targeting PIK3R6. (PMID:33155192)
- PIK3R6 Promotes Angiogenesis in Hepatocellular carcinoma by Activating STAT3 Signaling Pathway. (PMID:37708538)
- Knockdown of PIK3R6 impedes the onset and advancement of clear cell renal cell carcinoma. (PMID:38831518)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | pik3r6b | ENSDARG00000091140 |
| mus_musculus | Pik3r6 | ENSMUSG00000046207 |
| rattus_norvegicus | Pik3r6 | ENSRNOG00000003992 |
Paralogs (1): PIK3R5 (ENSG00000141506)
Protein
Protein identifiers
Phosphoinositide 3-kinase regulatory subunit 6 — Q5UE93 (reviewed: Q5UE93)
Alternative names: Phosphoinositide 3-kinase gamma adapter protein of 87 kDa, p84 PI3K adapter protein, p87 PI3K adapter protein
All UniProt accessions (2): Q5UE93, A0A087X1F3
UniProt curated annotations — full annotation on UniProt →
Function. Regulatory subunit of the PI3K gamma complex. Acts as an adapter to drive activation of PIK3CG by beta-gamma G protein dimers. The PIK3CG:PIK3R6 heterodimer is much less sensitive to beta-gamma G protein dimers than PIK3CG:PIK3R5 and its membrane recruitment and beta-gamma G protein dimer-dependent activation requires HRAS bound to PIK3CG. Recruits of the PI3K gamma complex to a PDE3B:RAPGEF3 signaling complex involved in angiogenesis; signaling seems to involve RRAS.
Subunit / interactions. Heterodimer of a catalytic subunit (PIK3CG) and a regulatory (PIK3R6) subunit. The binding of PIK3R6 to PIK3CG may exclude the binding of PIK3R5 to PIK3CG. Interacts with beta-gamma G protein dimers. Interacts with PDE3B and RAPGEF3; form a signaling complex that regulates phosphatidylinositol 3-kinase gamma in angiogenesis.
Subcellular location. Cytoplasm. Cell membrane.
RefSeq proteins (2): NP_001010855, NP_001277140 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR019522 | PIK3R5/6 | Family |
Pfam: PF10486
UniProt features (2 total): chain 1, region of interest 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q5UE93-F1 | 75.19 | 0.38 |
Function
Pathways and Gene Ontology
Reactome pathways
8 pathways
| ID | Pathway |
|---|---|
| R-HSA-114604 | GPVI-mediated activation cascade |
| R-HSA-1257604 | PIP3 activates AKT signaling |
| R-HSA-1660499 | Synthesis of PIPs at the plasma membrane |
| R-HSA-2219530 | Constitutive Signaling by Aberrant PI3K in Cancer |
| R-HSA-389357 | CD28 dependent PI3K/Akt signaling |
| R-HSA-392451 | G beta:gamma signalling through PI3Kgamma |
| R-HSA-6811558 | PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling |
| R-HSA-9927354 | Co-stimulation by ICOS |
MSigDB gene sets: 205 (showing top):
GOBP_REGULATION_OF_CELL_ACTIVATION, GOBP_POSITIVE_REGULATION_OF_HEMOPOIESIS, GOBP_REGULATION_OF_PHOSPHORYLATION, REACTOME_ADAPTIVE_IMMUNE_SYSTEM, REACTOME_PLATELET_ACTIVATION_SIGNALING_AND_AGGREGATION, GOBP_POSITIVE_REGULATION_OF_VASCULATURE_DEVELOPMENT, GOBP_POSITIVE_REGULATION_OF_MAPK_CASCADE, GOBP_LEUKOCYTE_MEDIATED_CYTOTOXICITY, GOBP_REGULATION_OF_TRANSFERASE_ACTIVITY, GOBP_LEUKOCYTE_MEDIATED_IMMUNITY, REACTOME_CO_STIMULATION_BY_CD28, GOBP_POSITIVE_REGULATION_OF_CELL_ADHESION, GOBP_CELL_CELL_ADHESION, GOBP_REGULATION_OF_LEUKOCYTE_DIFFERENTIATION, GOBP_POSITIVE_REGULATION_OF_CATALYTIC_ACTIVITY
GO Biological Process (7): angiogenesis (GO:0001525), immune response (GO:0006955), G protein-coupled receptor signaling pathway (GO:0007186), regulation of natural killer cell mediated cytotoxicity (GO:0042269), positive regulation of MAP kinase activity (GO:0043406), positive regulation of T cell differentiation (GO:0045582), positive regulation of angiogenesis (GO:0045766)
GO Molecular Function (3): 1-phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934), 1-phosphatidylinositol-3-kinase regulator activity (GO:0046935), protein binding (GO:0005515)
GO Cellular Component (7): cytosol (GO:0005829), plasma membrane (GO:0005886), phosphatidylinositol 3-kinase complex (GO:0005942), phosphatidylinositol 3-kinase complex, class IA (GO:0005943), phosphatidylinositol 3-kinase complex, class IB (GO:0005944), membrane (GO:0016020), cytoplasm (GO:0005737)
Reactome top-level categories
Rollup of top-8 pathways:
| Category | Pathways |
|---|---|
| Platelet activation, signaling and aggregation | 1 |
| Intracellular signaling by second messengers | 1 |
| PI Metabolism | 1 |
| PI3K/AKT Signaling in Cancer | 1 |
| Co-stimulation by CD28 | 1 |
| G-protein beta:gamma signalling | 1 |
| Negative regulation of the PI3K/AKT network | 1 |
| Regulation of T cell activation by CD28 family | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| phosphatidylinositol 3-kinase complex, class I | 2 |
| blood vessel morphogenesis | 1 |
| anatomical structure formation involved in morphogenesis | 1 |
| immune system process | 1 |
| response to stimulus | 1 |
| G protein-coupled receptor activity | 1 |
| signal transduction | 1 |
| regulation of leukocyte mediated cytotoxicity | 1 |
| regulation of natural killer cell mediated immunity | 1 |
| natural killer cell mediated cytotoxicity | 1 |
| MAP kinase activity | 1 |
| regulation of MAP kinase activity | 1 |
| positive regulation of MAPK cascade | 1 |
| positive regulation of protein serine/threonine kinase activity | 1 |
| T cell differentiation | 1 |
| regulation of T cell differentiation | 1 |
| positive regulation of lymphocyte differentiation | 1 |
| positive regulation of T cell activation | 1 |
| angiogenesis | 1 |
| regulation of angiogenesis | 1 |
| positive regulation of vasculature development | 1 |
| phosphatidylinositol kinase activity | 1 |
| 1-phosphatidylinositol-3-kinase activity | 1 |
| kinase regulator activity | 1 |
| binding | 1 |
| cytoplasm | 1 |
| membrane | 1 |
| cell periphery | 1 |
| extrinsic component of membrane | 1 |
| transferase complex, transferring phosphorus-containing groups | 1 |
| membrane protein complex | 1 |
| intracellular anatomical structure | 1 |
Protein interactions and networks
STRING
682 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| PIK3R6 | PIK3CG | P48736 | 988 |
| PIK3R6 | PDE3B | Q13370 | 695 |
| PIK3R6 | PIK3R3 | Q92569 | 693 |
| PIK3R6 | GNG2 | P59768 | 661 |
| PIK3R6 | GNB1 | P04697 | 581 |
| PIK3R6 | SUCLG2 | Q96I99 | 558 |
| PIK3R6 | PIK3R2 | O00459 | 482 |
| PIK3R6 | PIK3C2B | O00750 | 471 |
| PIK3R6 | PIK3CB | P42338 | 448 |
| PIK3R6 | PIK3CD | O00329 | 447 |
| PIK3R6 | TLR9 | Q9NR96 | 429 |
| PIK3R6 | PIK3C2G | O75747 | 419 |
| PIK3R6 | PIK3R1 | P27986 | 405 |
| PIK3R6 | PIK3R5 | Q8WYR1 | 390 |
| PIK3R6 | IMMT | Q16891 | 380 |
IntAct
13 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| PDE3B | RAPGEF3 | psi-mi:“MI:0914”(association) | 0.640 |
| PDE3B | PIK3R6 | psi-mi:“MI:0915”(physical association) | 0.590 |
| PIK3R6 | PDE3B | psi-mi:“MI:0407”(direct interaction) | 0.590 |
| PIK3R6 | S100A10 | psi-mi:“MI:0915”(physical association) | 0.400 |
| PIK3R6 | STX3 | psi-mi:“MI:0915”(physical association) | 0.400 |
| PIK3R6 | TCP1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| PIK3R6 | RPL10A | psi-mi:“MI:0915”(physical association) | 0.400 |
| PIK3R6 | DHX9 | psi-mi:“MI:0915”(physical association) | 0.400 |
| PIK3R6 | H1-1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| PIK3R6 | RFC5 | psi-mi:“MI:0915”(physical association) | 0.400 |
| RAPGEF3 | PIK3R6 | psi-mi:“MI:0915”(physical association) | 0.400 |
| PIK3R6 | HSPA8 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (18): PIK3R6 (Affinity Capture-Western), PIK3R6 (FRET), PIK3R6 (Proximity Label-MS), PIK3R6 (Proximity Label-MS), PIK3R6 (Proximity Label-MS), PIK3R6 (Proximity Label-MS), PIK3R6 (Proximity Label-MS), PIK3R6 (Proximity Label-MS), PIK3R6 (Proximity Label-MS), PIK3R6 (Affinity Capture-MS), ASRGL1 (Affinity Capture-MS), HSPA8 (Affinity Capture-MS), STUB1 (Affinity Capture-MS), PIK3R6 (Cross-Linking-MS (XL-MS)), PIK3R6 (Cross-Linking-MS (XL-MS))
ESM2 similar proteins: A1A4J7, A2A9C3, A2BID5, B1WC10, E7FAW3, E7FCN8, O02696, O15360, O75153, O75800, O95248, Q08D69, Q1JPG0, Q3U6Q4, Q499Q5, Q5BLE2, Q5SW28, Q5SW45, Q5T011, Q5U1Z0, Q5U249, Q5UE93, Q5ZIB8, Q6AXZ5, Q6GLY5, Q6GR21, Q6PGF3, Q6ZNJ1, Q6ZQA0, Q7L4E1, Q8BK03, Q8BM55, Q8BMG7, Q8C3S2, Q8CJF7, Q8ND04, Q8QZV7, Q8TC57, Q8VDR9, Q8VE18
Diamond homologs: Q3U6Q4, Q5UE93
SIGNOR signaling
3 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| AKT1 | “up-regulates activity” | PIK3R6 | phosphorylation |
| AKT | “up-regulates activity” | PIK3R6 | phosphorylation |
| PIK3R6 | “down-regulates activity” | PI3K | binding |
Disease & clinical
Clinical variants and AI predictions
ClinVar
130 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 106 |
| Likely benign | 2 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
3051 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 17:8804051:C:A | donor_gain | 1.0000 |
| 17:8804150:CTGT:C | acceptor_gain | 1.0000 |
| 17:8822991:CTTA:C | donor_loss | 1.0000 |
| 17:8822995:C:CA | donor_loss | 1.0000 |
| 17:8823085:AT:A | acceptor_gain | 1.0000 |
| 17:8823382:CTTA:C | donor_loss | 1.0000 |
| 17:8823383:TTAC:T | donor_loss | 1.0000 |
| 17:8823384:TA:T | donor_loss | 1.0000 |
| 17:8823385:A:AT | donor_loss | 1.0000 |
| 17:8823498:C:CC | acceptor_gain | 1.0000 |
| 17:8827171:CCAT:C | donor_gain | 1.0000 |
| 17:8829673:CCA:C | donor_gain | 1.0000 |
| 17:8829705:CAGAG:C | donor_gain | 1.0000 |
| 17:8832883:GCTT:G | donor_loss | 1.0000 |
| 17:8832884:CTTAC:C | donor_loss | 1.0000 |
| 17:8832885:TTACC:T | donor_loss | 1.0000 |
| 17:8832886:TACCA:T | donor_loss | 1.0000 |
| 17:8832888:C:CA | donor_loss | 1.0000 |
| 17:8832888:CCA:C | donor_gain | 1.0000 |
| 17:8833044:GCCT:G | acceptor_loss | 1.0000 |
| 17:8833045:CCTG:C | acceptor_loss | 1.0000 |
| 17:8833047:T:C | acceptor_loss | 1.0000 |
| 17:8835272:CCTG:C | donor_gain | 1.0000 |
| 17:8835281:T:TA | donor_gain | 1.0000 |
| 17:8835452:ACACT:A | acceptor_gain | 1.0000 |
| 17:8835453:CACT:C | acceptor_gain | 1.0000 |
| 17:8835453:CACTC:C | acceptor_gain | 1.0000 |
| 17:8835455:CT:C | acceptor_gain | 1.0000 |
| 17:8835456:TC:T | acceptor_loss | 1.0000 |
| 17:8835456:TCTG:T | acceptor_gain | 1.0000 |
AlphaMissense
4879 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 17:8838644:A:G | W37R | 0.995 |
| 17:8838644:A:T | W37R | 0.995 |
| 17:8828633:G:T | A416D | 0.988 |
| 17:8838642:C:A | W37C | 0.988 |
| 17:8838642:C:G | W37C | 0.988 |
| 17:8823031:A:G | L561P | 0.983 |
| 17:8803291:G:C | F749L | 0.982 |
| 17:8803291:G:T | F749L | 0.982 |
| 17:8803293:A:G | F749L | 0.982 |
| 17:8829727:A:G | W290R | 0.981 |
| 17:8829727:A:T | W290R | 0.981 |
| 17:8823430:C:G | R528P | 0.980 |
| 17:8827225:A:C | Y488D | 0.980 |
| 17:8835340:A:T | V193D | 0.980 |
| 17:8838571:A:G | L61P | 0.979 |
| 17:8827228:A:G | W487R | 0.977 |
| 17:8827228:A:T | W487R | 0.977 |
| 17:8838637:A:G | L39P | 0.976 |
| 17:8823042:G:C | F557L | 0.972 |
| 17:8823042:G:T | F557L | 0.972 |
| 17:8823044:A:G | F557L | 0.972 |
| 17:8828615:C:T | G422E | 0.972 |
| 17:8828860:G:C | S340R | 0.969 |
| 17:8828860:G:T | S340R | 0.969 |
| 17:8828862:T:G | S340R | 0.969 |
| 17:8823425:C:G | G530R | 0.968 |
| 17:8828616:C:G | G422R | 0.968 |
| 17:8828616:C:T | G422R | 0.968 |
| 17:8838643:C:G | W37S | 0.967 |
| 17:8835445:A:G | F158S | 0.966 |
dbSNP variants (sampled 300 via entrez): RS1000026905 (17:8846256 A>C,G), RS1000040677 (17:8815283 G>A), RS1000105792 (17:8853121 T>C), RS1000243982 (17:8818024 A>G), RS1000292210 (17:8830049 A>T), RS1000293988 (17:8855878 A>G), RS1000355612 (17:8861930 T>G), RS1000396534 (17:8861688 A>G,T), RS1000468862 (17:8823575 C>G,T), RS1000498092 (17:8838808 T>G), RS1000571256 (17:8841637 T>A), RS1000609364 (17:8806290 T>C), RS1000613610 (17:8844025 G>A,T), RS1000661926 (17:8806109 A>G), RS1000763818 (17:8812514 T>A)
Disease associations
OMIM: gene MIM:611462 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
1 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST009391_1759 | Metabolite levels | 3.000000e-06 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0010370 | lysophosphatidylethanolamine 20:4 measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
GtoPdb / IUPHAR curated pharmacology
(IUPHAR/BPS Guide to Pharmacology — expert-curated)
Target class: enzyme — Phosphatidylinositol kinases
CTD chemical–gene interactions
13 total (human), top 13 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Benzo(a)pyrene | increases methylation, affects methylation, decreases expression | 3 |
| Formaldehyde | increases expression | 2 |
| Aflatoxin B1 | affects expression, decreases methylation | 2 |
| GSK-J4 | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| bisphenol A | decreases methylation | 1 |
| aflatoxin B2 | increases methylation | 1 |
| Air Pollutants | increases abundance, increases expression | 1 |
| Allergens | increases expression | 1 |
| Oxygen | increases expression | 1 |
| Phthalic Acids | increases methylation | 1 |
| Cyclosporine | decreases expression | 1 |
| Particulate Matter | increases expression, increases abundance | 1 |
Cellosaurus cell lines
2 cell lines: 2 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_TD72 | HAP1 PIK3R6 (-) 1 | Cancer cell line | Male |
| CVCL_TD73 | HAP1 PIK3R6 (-) 2 | Cancer cell line | Male |
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.