PIK3IP1
gene geneOn this page
Also known as HGFLMGC17330TrIP
Summary
PIK3IP1 (phosphoinositide-3-kinase interacting protein 1, HGNC:24942) is a protein-coding gene on chromosome 22q12.2, encoding Phosphoinositide-3-kinase-interacting protein 1 (Q96FE7). Negative regulator of hepatic phosphatidylinositol 3-kinase (PI3K) activity.
Enables phosphatidylinositol 3-kinase inhibitor activity. Involved in negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction. Predicted to be located in plasma membrane. Predicted to be active in extracellular space.
Source: NCBI Gene 113791 — RefSeq curated summary.
At a glance
- GWAS associations: 8
- Clinical variants (ClinVar): 47 total
- MANE Select transcript:
NM_052880
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:24942 |
| Approved symbol | PIK3IP1 |
| Name | phosphoinositide-3-kinase interacting protein 1 |
| Location | 22q12.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | HGFL, MGC17330, TrIP |
| Ensembl gene | ENSG00000100100 |
| Ensembl biotype | protein_coding |
| OMIM | 619158 |
| Entrez | 113791 |
Gene structure
Transcript identifiers
Ensembl transcripts: 8 — 5 protein_coding, 3 retained_intron
ENST00000215912, ENST00000402249, ENST00000441972, ENST00000443175, ENST00000480654, ENST00000493034, ENST00000715258, ENST00000885856
RefSeq mRNA: 2 — MANE Select: NM_052880
NM_001135911, NM_052880
CCDS: CCDS13893, CCDS46690
Canonical transcript exons
ENST00000215912 — 6 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000653144 | 31290965 | 31291084 |
| ENSE00000653149 | 31291180 | 31291296 |
| ENSE00001048693 | 31292275 | 31292488 |
| ENSE00001857358 | 31281600 | 31283288 |
| ENSE00003521281 | 31289315 | 31289393 |
| ENSE00003644320 | 31289499 | 31289699 |
Expression profiles
Bgee: expression breadth ubiquitous, 284 present calls, max score 96.31.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 32.6229 / max 1642.0285, expressed in 1622 samples.
FANTOM5 promoters (11 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 193696 | 24.8563 | 1547 |
| 193691 | 2.0334 | 288 |
| 193694 | 1.3843 | 275 |
| 193692 | 1.3640 | 261 |
| 193690 | 0.8441 | 118 |
| 193695 | 0.6894 | 218 |
| 193697 | 0.6354 | 361 |
| 193689 | 0.4992 | 100 |
| 193687 | 0.1255 | 46 |
| 193688 | 0.1019 | 40 |
Top tissues by expression
299 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| lymph node | UBERON:0000029 | 96.31 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 96.16 | gold quality |
| right lung | UBERON:0002167 | 96.12 | gold quality |
| granulocyte | CL:0000094 | 95.35 | gold quality |
| blood | UBERON:0000178 | 95.12 | gold quality |
| mucosa of stomach | UBERON:0001199 | 94.84 | gold quality |
| spleen | UBERON:0002106 | 94.75 | gold quality |
| nerve | UBERON:0001021 | 94.34 | gold quality |
| tibial nerve | UBERON:0001323 | 94.34 | gold quality |
| skin of leg | UBERON:0001511 | 94.19 | gold quality |
| skin of abdomen | UBERON:0001416 | 93.85 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 93.75 | gold quality |
| minor salivary gland | UBERON:0001830 | 93.59 | gold quality |
| vermiform appendix | UBERON:0001154 | 93.50 | gold quality |
| pancreatic ductal cell | CL:0002079 | 93.41 | gold quality |
| subcutaneous adipose tissue | UBERON:0002190 | 92.80 | gold quality |
| calcaneal tendon | UBERON:0003701 | 92.76 | gold quality |
| saliva-secreting gland | UBERON:0001044 | 92.64 | gold quality |
| zone of skin | UBERON:0000014 | 92.44 | gold quality |
| right coronary artery | UBERON:0001625 | 92.26 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 92.25 | gold quality |
| caecum | UBERON:0001153 | 92.04 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 91.93 | gold quality |
| right adrenal gland | UBERON:0001233 | 91.89 | gold quality |
| gall bladder | UBERON:0002110 | 91.83 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 91.47 | gold quality |
| nasal cavity epithelium | UBERON:0005384 | 91.44 | gold quality |
| spinal cord | UBERON:0002240 | 91.38 | gold quality |
| left adrenal gland | UBERON:0001234 | 91.35 | gold quality |
| small intestine | UBERON:0002108 | 91.24 | gold quality |
Single-cell (SCXA)
Detected in 12 experiment(s), a significant marker in 8.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-HCAD-4 | yes | 669.22 |
| E-MTAB-9467 | yes | 66.95 |
| E-CURD-122 | yes | 39.95 |
| E-CURD-88 | yes | 38.81 |
| E-MTAB-8410 | yes | 36.62 |
| E-HCAD-1 | yes | 36.39 |
| E-CURD-112 | yes | 5.24 |
| E-MTAB-7606 | no | 2613.73 |
| E-CURD-89 | no | 1285.56 |
| E-GEOD-150728 | no | 586.14 |
| E-CURD-120 | no | 567.60 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): CUX1, FOXO3
miRNA regulators (miRDB)
68 targeting PIK3IP1, 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-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-188-3P | 100.00 | 68.76 | 1240 |
| HSA-MIR-574-5P | 100.00 | 66.01 | 989 |
| HSA-MIR-4500 | 99.99 | 72.72 | 2367 |
| 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 |
| HSA-MIR-19A-3P | 99.98 | 75.33 | 2762 |
| HSA-MIR-19B-3P | 99.98 | 75.44 | 2754 |
| HSA-MIR-548AJ-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-548X-3P | 99.96 | 73.38 | 5345 |
| HSA-LET-7D-5P | 99.96 | 71.76 | 1632 |
| HSA-MIR-4458 | 99.96 | 71.64 | 1650 |
| HSA-MIR-302E | 99.96 | 70.74 | 2669 |
| HSA-MIR-548J-3P | 99.94 | 72.61 | 4881 |
| HSA-MIR-548AE-3P | 99.93 | 72.66 | 4867 |
| HSA-MIR-548AH-3P | 99.93 | 72.54 | 4872 |
| HSA-MIR-548AM-3P | 99.93 | 72.54 | 4872 |
| HSA-MIR-548AQ-3P | 99.93 | 72.66 | 4867 |
| HSA-MIR-552-5P | 99.93 | 68.56 | 1583 |
| HSA-MIR-6835-3P | 99.93 | 70.49 | 2904 |
| HSA-MIR-539-5P | 99.93 | 70.30 | 2855 |
| HSA-MIR-497-5P | 99.92 | 71.83 | 2674 |
| HSA-MIR-4295 | 99.90 | 73.11 | 1838 |
| HSA-MIR-202-3P | 99.84 | 71.41 | 1290 |
Literature-anchored findings (GeneRIF, showing 8)
- PIK3IP1 directly binds to the p110 catalytic subunit and down modulates PI3K activity. Suggested that PIK3IP1 is a new type of PI3K regulator. (PMID:17475214)
- PIK3IP1 is an important regulator of PI3K in vivo, and its dysregulation can contribute to liver carcinogenesis (PMID:18632611)
- PIK3IP1-v1 is a novel splicing isoform of PIK3IP1. Both of them are located on cell membrane and can induce cell apoptosis. (PMID:19088825)
- These results suggest that the novel PI3K regulator PIK3IP1 plays an inhibitory role in T-cell activation. (PMID:22706993)
- Findings indicate that colon cancer associated transcript 1 (non-protein coding) (CCAT1) was upregulated in osteosarcoma tissues and cells, and was involved in the proliferation and migration of osteosarcoma via regulating miR-148a/phosphatidyl inositol 3-kinase interacting protein 1 (PIK3IP1) signal pathway. (PMID:28549102)
- Pik3ip1 Is a Negative Immune Regulator that Inhibits Antitumor T-Cell Immunity. (PMID:31350312)
- Downregulation of PIK3IP1 in retinal microglia promotes retinal pathological neovascularization via PI3K-AKT pathway activation. (PMID:37550343)
- CircPDE5A-encoded novel regulator of the PI3K/AKT pathway inhibits esophageal squamous cell carcinoma progression by promoting USP14-mediated de-ubiquitination of PIK3IP1. (PMID:38658954)
Cross-species orthologs
14 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | pik3ip1 | ENSDARG00000003281 |
| mus_musculus | Pik3ip1 | ENSMUSG00000034614 |
| rattus_norvegicus | Pik3ip1 | ENSRNOG00000018859 |
| drosophila_melanogaster | CG14780 | FBGN0025383 |
| drosophila_melanogaster | CG14227 | FBGN0031058 |
| drosophila_melanogaster | CG11664 | FBGN0040341 |
| drosophila_melanogaster | CG30287 | FBGN0050287 |
| drosophila_melanogaster | CG30288 | FBGN0050288 |
| drosophila_melanogaster | CG30289 | FBGN0050289 |
| drosophila_melanogaster | CG30414 | FBGN0050414 |
| drosophila_melanogaster | CG31205 | FBGN0051205 |
| drosophila_melanogaster | CG33225 | FBGN0053225 |
| drosophila_melanogaster | CG33226 | FBGN0069056 |
| drosophila_melanogaster | CG30283 | FBGN0260477 |
Paralogs (5): HGF (ENSG00000019991), GZMK (ENSG00000113088), GZMA (ENSG00000145649), HABP2 (ENSG00000148702), MST1 (ENSG00000173531)
Protein
Protein identifiers
Phosphoinositide-3-kinase-interacting protein 1 — Q96FE7 (reviewed: Q96FE7)
Alternative names: Kringle domain-containing protein HGFL
All UniProt accessions (2): C9JMK5, Q96FE7
UniProt curated annotations — full annotation on UniProt →
Function. Negative regulator of hepatic phosphatidylinositol 3-kinase (PI3K) activity.
Subcellular location. Cell membrane.
Post-translational modifications. N- and O-glycosylated. O-glycosylated with core 1 or possibly core 8 glycans. N-glycan heterogeneity at Asn-66: dHex1Hex5HexNAc4 (major) and dHex1Hex6HexNAc5 (minor).
Isoforms (5)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q96FE7-1 | 1, HGFL(L) | yes |
| Q96FE7-2 | 2, HGFL(S) | |
| Q96FE7-3 | 3 | |
| Q96FE7-4 | 4 | |
| Q96FE7-5 | 5, PIK3IP1-v1 |
RefSeq proteins (2): NP_001129383, NP_443112* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000001 | Kringle | Domain |
| IPR013806 | Kringle-like | Homologous_superfamily |
| IPR018056 | Kringle_CS | Conserved_site |
| IPR038178 | Kringle_sf | Homologous_superfamily |
Pfam: PF00051
UniProt features (21 total): splice variant 5, disulfide bond 3, sequence conflict 2, topological domain 2, glycosylation site 2, signal peptide 1, chain 1, sequence variant 1, transmembrane region 1, domain 1, region of interest 1, compositionally biased region 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q96FE7-F1 | 67.90 | 0.14 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Disulfide bonds (3): 25–101, 46–82, 70–96
Glycosylation sites (2): 39, 66
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 335 (showing top):
KOBAYASHI_EGFR_SIGNALING_24HR_UP, ATACCTC_MIR202, NFKB_Q6, GOBP_NEGATIVE_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION, HAHTOLA_MYCOSIS_FUNGOIDES_DN, GTGCCTT_MIR506, MODULE_379, GOBP_NEGATIVE_REGULATION_OF_PHOSPHATIDYLINOSITOL_3_KINASE_PROTEIN_KINASE_B_SIGNAL_TRANSDUCTION, ROZANOV_MMP14_TARGETS_UP, GOBP_PHOSPHATIDYLINOSITOL_3_KINASE_PROTEIN_KINASE_B_SIGNAL_TRANSDUCTION, GGARNTKYCCA_UNKNOWN, LEE_EARLY_T_LYMPHOCYTE_DN, HIF1_Q3, P300_01, MODULE_242
GO Biological Process (1): negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction (GO:0051898)
GO Molecular Function (4): endopeptidase activity (GO:0004175), signaling receptor binding (GO:0005102), phosphatidylinositol 3-kinase inhibitor activity (GO:0141039), protein binding (GO:0005515)
GO Cellular Component (3): obsolete extracellular space (GO:0005615), plasma membrane (GO:0005886), membrane (GO:0016020)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| phosphatidylinositol 3-kinase/protein kinase B signal transduction | 1 |
| regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction | 1 |
| negative regulation of intracellular signal transduction | 1 |
| peptidase activity | 1 |
| protein binding | 1 |
| phosphatidylinositol 3-kinase regulator activity | 1 |
| binding | 1 |
| membrane | 1 |
| cell periphery | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
570 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| PIK3IP1 | PIK3CA | P42336 | 533 |
| PIK3IP1 | LRRC14B | A6NHZ5 | 448 |
| PIK3IP1 | LRRC14 | Q15048 | 424 |
| PIK3IP1 | DNAJC30 | Q96LL9 | 421 |
| PIK3IP1 | H7C2Y5 | H7C2Y5 | 417 |
| PIK3IP1 | BAHD1 | Q8TBE0 | 400 |
| PIK3IP1 | ARID1A | O14497 | 396 |
| PIK3IP1 | PIP4K2C | Q8TBX8 | 394 |
| PIK3IP1 | PIP4K2B | P78356 | 391 |
| PIK3IP1 | PIP4K2A | P48426 | 375 |
| PIK3IP1 | TAF3 | Q5VWG9 | 371 |
| PIK3IP1 | MXD4 | Q14582 | 369 |
| PIK3IP1 | SAMD10 | Q9BYL1 | 366 |
| PIK3IP1 | PLEKHF1 | Q96S99 | 364 |
| PIK3IP1 | PIK3R3 | Q92569 | 358 |
IntAct
29 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| UBQLN1 | PIK3IP1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| PIK3IP1 | UBQLN1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| PIK3IP1 | UBQLN2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MAGEA11 | PIK3IP1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SLC35A1 | PIK3IP1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MFSD11 | PIK3IP1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TMEM218 | PIK3IP1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| UPK1B | PIK3IP1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| PIK3IP1 | TFRC | psi-mi:“MI:0914”(association) | 0.350 |
| PIK3IP1 | PODXL | psi-mi:“MI:0914”(association) | 0.350 |
| PIK3IP1 | POTEF | psi-mi:“MI:0914”(association) | 0.350 |
| PIK3IP1 | SEL1L3 | psi-mi:“MI:0914”(association) | 0.350 |
| PIK3IP1 | UBQLN2 | psi-mi:“MI:0915”(physical association) | 0.000 |
| PIK3IP1 | MAGEA11 | psi-mi:“MI:0915”(physical association) | 0.000 |
| SLC35A1 | PIK3IP1 | psi-mi:“MI:0915”(physical association) | 0.000 |
| MFSD11 | PIK3IP1 | psi-mi:“MI:0915”(physical association) | 0.000 |
| UPK1B | PIK3IP1 | psi-mi:“MI:0915”(physical association) | 0.000 |
| TMEM218 | PIK3IP1 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (20): PIK3IP1 (Two-hybrid), PIK3IP1 (Two-hybrid), UPK1B (Two-hybrid), TMEM218 (Two-hybrid), SLC35A1 (Two-hybrid), MAGEA11 (Two-hybrid), UBQLN2 (Two-hybrid), EPHA7 (Affinity Capture-MS), FAM114A2 (Affinity Capture-MS), IPO7 (Affinity Capture-MS), SAAL1 (Affinity Capture-MS), TFRC (Affinity Capture-MS), GOLGB1 (Affinity Capture-MS), SRPR (Affinity Capture-MS), PODXL (Affinity Capture-MS)
ESM2 similar proteins: A0A1B0GSZ0, A0A1B0GUA5, A0A1B0GVQ0, A0A1B0GVT2, A0JNM1, A2A9G7, A2APA5, A2VE22, A6NLX4, A7E1Z1, A7MB05, A9CBA0, D3ZR35, E9Q942, F5HI25, O39519, P06480, P09517, P0DJ93, P18345, Q0II74, Q0VFL4, Q1RMT9, Q2T9Z2, Q498C7, Q56A20, Q5BIR3, Q5RCS3, Q5XIF1, Q67593, Q6UWT2, Q6UWV7, Q7TMJ8, Q80WB0, Q80WK2, Q86UW2, Q8K1D8, Q8N5W8, Q8TEF2, Q8VEA7
Diamond homologs: D3ZTE0, O18783, O97507, P00734, P00747, P00750, P04185, P06867, P06868, P06869, P08519, P11214, P12545, P14210, P15638, P19221, P19637, P20918, P26927, P26928, P29598, P49150, P80009, P98119, P98121, Q01177, Q04756, Q04962, Q05589, Q14520, Q1RMT9, Q24K22, Q28198, Q29485, Q56A20, Q5E9Z2, Q5R537, Q5R8J0, Q5R8X6, Q5RCS3
SIGNOR signaling
2 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| CUX1 | “down-regulates quantity by repression” | PIK3IP1 | “transcriptional regulation” |
| PIK3IP1 | “down-regulates activity” | PI3K | binding |
Disease & clinical
Clinical variants and AI predictions
ClinVar
47 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 36 |
| Likely benign | 1 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
935 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 22:31289311:TGA:T | donor_loss | 1.0000 |
| 22:31289312:GAC:G | donor_loss | 1.0000 |
| 22:31289313:A:AC | donor_gain | 1.0000 |
| 22:31289314:C:CC | donor_gain | 1.0000 |
| 22:31289314:CCT:C | donor_gain | 1.0000 |
| 22:31289390:TAGC:T | acceptor_gain | 1.0000 |
| 22:31289391:AGC:A | acceptor_gain | 1.0000 |
| 22:31289392:GC:G | acceptor_gain | 1.0000 |
| 22:31289392:GCC:G | acceptor_loss | 1.0000 |
| 22:31289393:CC:C | acceptor_gain | 1.0000 |
| 22:31289393:CCTG:C | acceptor_loss | 1.0000 |
| 22:31289394:C:A | acceptor_loss | 1.0000 |
| 22:31289394:C:CC | acceptor_gain | 1.0000 |
| 22:31289395:T:C | acceptor_loss | 1.0000 |
| 22:31289398:C:CT | acceptor_gain | 1.0000 |
| 22:31289398:C:T | acceptor_gain | 1.0000 |
| 22:31289399:A:T | acceptor_gain | 1.0000 |
| 22:31289403:A:AC | acceptor_gain | 1.0000 |
| 22:31289403:A:C | acceptor_gain | 1.0000 |
| 22:31289493:TCATA:T | donor_loss | 1.0000 |
| 22:31289495:ATACC:A | donor_loss | 1.0000 |
| 22:31289496:TACC:T | donor_loss | 1.0000 |
| 22:31289497:A:AC | donor_gain | 1.0000 |
| 22:31289497:AC:A | donor_gain | 1.0000 |
| 22:31289498:C:CC | donor_gain | 1.0000 |
| 22:31289498:CC:C | donor_gain | 1.0000 |
| 22:31289510:AGGT:A | donor_gain | 1.0000 |
| 22:31289513:T:TA | donor_gain | 1.0000 |
| 22:31289700:C:CC | acceptor_gain | 1.0000 |
| 22:31291081:GCCC:G | acceptor_gain | 1.0000 |
AlphaMissense
1703 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 22:31291220:C:A | W49C | 0.995 |
| 22:31291220:C:G | W49C | 0.995 |
| 22:31291029:C:A | W81C | 0.993 |
| 22:31291029:C:G | W81C | 0.993 |
| 22:31291027:C:G | C82S | 0.990 |
| 22:31291028:A:T | C82S | 0.990 |
| 22:31291063:C:G | C70S | 0.988 |
| 22:31291064:A:T | C70S | 0.988 |
| 22:31291060:C:G | R71P | 0.987 |
| 22:31291230:C:G | C46S | 0.986 |
| 22:31291231:A:T | C46S | 0.986 |
| 22:31283207:G:C | F223L | 0.985 |
| 22:31283207:G:T | F223L | 0.985 |
| 22:31283209:A:G | F223L | 0.985 |
| 22:31291026:G:C | C82W | 0.984 |
| 22:31289342:C:T | G187D | 0.983 |
| 22:31289348:C:T | G185E | 0.983 |
| 22:31289343:C:G | G187R | 0.980 |
| 22:31289349:C:G | G185R | 0.980 |
| 22:31289349:C:T | G185R | 0.980 |
| 22:31291028:A:G | C82R | 0.980 |
| 22:31289330:C:T | G191D | 0.978 |
| 22:31291063:C:T | C70Y | 0.977 |
| 22:31289317:C:A | K195N | 0.975 |
| 22:31289317:C:G | K195N | 0.975 |
| 22:31289381:C:T | G174D | 0.974 |
| 22:31291062:G:C | C70W | 0.974 |
| 22:31291064:A:G | C70R | 0.974 |
| 22:31291231:A:G | C46R | 0.974 |
| 22:31289372:A:T | M177K | 0.973 |
dbSNP variants (sampled 300 via entrez): RS1000017898 (22:31287127 C>T), RS1000402658 (22:31282510 C>G,T), RS1000514021 (22:31287630 A>G,T), RS1000623513 (22:31288779 A>G), RS1000684296 (22:31294128 A>C), RS1000718264 (22:31293437 A>C), RS1000914825 (22:31289054 CTT>C), RS1000948194 (22:31287162 C>T), RS1001194897 (22:31293661 CTT>C,CT,CTTT,CTTTT), RS1001253724 (22:31293187 C>T), RS1001992251 (22:31286317 G>A), RS1002262666 (22:31294287 C>G), RS1002425206 (22:31289495 A>G), RS1002654907 (22:31283643 C>G), RS1002954441 (22:31283994 T>C)
Disease associations
OMIM: gene MIM:619158 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
8 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST009391_620 | Metabolite levels | 7.000000e-06 |
| GCST010135_20 | Oily fish consumption | 3.000000e-10 |
| GCST010135_5 | Oily fish consumption | 1.000000e-15 |
| GCST010140_12 | Pork consumption | 3.000000e-10 |
| GCST010140_49 | Pork consumption | 1.000000e-15 |
| GCST010142_11 | Fish- and plant-related diet | 1.000000e-11 |
| GCST010142_79 | Fish- and plant-related diet | 3.000000e-08 |
| GCST90002404_593 | Red cell distribution width | 7.000000e-16 |
EFO canonical traits (3, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0009793 | isoleucine measurement |
| EFO:0008111 | diet measurement |
| EFO:0009188 | Red cell distribution width |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
49 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Tobacco Smoke Pollution | affects expression, decreases expression, decreases methylation | 3 |
| Acetaminophen | decreases expression, increases expression | 2 |
| Benzo(a)pyrene | affects methylation, decreases expression, increases methylation | 2 |
| Estradiol | affects cotreatment, increases expression, decreases expression | 2 |
| Tretinoin | increases expression | 2 |
| Valproic Acid | affects expression, decreases expression | 2 |
| Cyclosporine | decreases expression | 2 |
| aristolochic acid I | increases expression | 1 |
| GSK-J4 | increases expression | 1 |
| sotorasib | affects cotreatment, increases expression | 1 |
| pirinixic acid | decreases expression, increases activity, affects binding | 1 |
| bisphenol A | increases expression | 1 |
| nickel chloride | increases expression | 1 |
| potassium chromate(VI) | decreases expression | 1 |
| aflatoxin B2 | increases methylation | 1 |
| hydroquinone | decreases expression | 1 |
| avobenzone | increases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| perfluoro-n-nonanoic acid | decreases expression | 1 |
| motexafin gadolinium | increases expression, affects cotreatment | 1 |
| nutlin 3 | affects cotreatment, increases expression | 1 |
| abrine | increases expression | 1 |
| 2-(1H-indazol-4-yl)-6-(4-methanesulfonylpiperazin-1-ylmethyl)-4-morpholin-4-ylthieno(3,2-d)pyrimidine | increases expression | 1 |
| bisphenol S | decreases expression | 1 |
| idelalisib | increases expression | 1 |
| trametinib | affects cotreatment, increases expression | 1 |
| 1-(4-((2-(2-aminopyrimidin-5-yl)-7-methyl-4-morpholinothieno(3,2-d)pyrimidin-6-yl)methyl)piperazin-1-yl)-2-hydroxypropan-1-one | increases expression | 1 |
| NVP-BKM120 | affects cotreatment, increases expression | 1 |
| Sunitinib | decreases expression | 1 |
| Air Pollutants | increases abundance, 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.