PLEKHA2
gene geneOn this page
Also known as TAPP2
Summary
PLEKHA2 (pleckstrin homology domain containing A2, HGNC:14336) is a protein-coding gene on chromosome 8p11.22, encoding Pleckstrin homology domain-containing family A member 2 (Q9HB19). Binds specifically to phosphatidylinositol 3,4-diphosphate (PtdIns3,4P2), but not to other phosphoinositides.
Enables fibronectin binding activity; laminin binding activity; and phosphatidylinositol-3,4-bisphosphate binding activity. Involved in positive regulation of cell-matrix adhesion. Located in cytoplasm and membrane. Part of protein-containing complex.
Source: NCBI Gene 59339 — RefSeq curated summary.
At a glance
- GWAS associations: 2
- Clinical variants (ClinVar): 54 total
- MANE Select transcript:
NM_021623
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:14336 |
| Approved symbol | PLEKHA2 |
| Name | pleckstrin homology domain containing A2 |
| Location | 8p11.22 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | TAPP2 |
| Ensembl gene | ENSG00000169499 |
| Ensembl biotype | protein_coding |
| OMIM | 607773 |
| Entrez | 59339 |
Gene structure
Transcript identifiers
Ensembl transcripts: 10 — 6 protein_coding, 3 protein_coding_CDS_not_defined, 1 retained_intron
ENST00000518070, ENST00000518939, ENST00000519640, ENST00000521123, ENST00000521382, ENST00000521746, ENST00000616834, ENST00000616927, ENST00000617275, ENST00000903010
RefSeq mRNA: 2 — MANE Select: NM_021623
NM_001410925, NM_021623
CCDS: CCDS75732, CCDS94287
Canonical transcript exons
ENST00000617275 — 12 exons
| Exon | Start | End |
|---|---|---|
| ENSE00003526734 | 38950850 | 38950990 |
| ENSE00003542564 | 38952636 | 38952704 |
| ENSE00003579400 | 38952166 | 38952312 |
| ENSE00003592062 | 38917907 | 38918070 |
| ENSE00003619269 | 38943789 | 38943837 |
| ENSE00003629963 | 38935994 | 38936050 |
| ENSE00003713647 | 38969421 | 38973912 |
| ENSE00003716153 | 38953297 | 38953367 |
| ENSE00003724704 | 38957323 | 38957386 |
| ENSE00003732247 | 38901346 | 38901445 |
| ENSE00003735647 | 38968592 | 38968669 |
| ENSE00003788406 | 38946124 | 38946221 |
Expression profiles
Bgee: expression breadth ubiquitous, 265 present calls, max score 97.02.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 17.7278 / max 255.1682, expressed in 1716 samples.
FANTOM5 promoters (8 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 88545 | 7.9536 | 1486 |
| 88544 | 2.8535 | 1058 |
| 88540 | 2.5862 | 1310 |
| 88542 | 1.2954 | 622 |
| 88541 | 1.2739 | 746 |
| 88543 | 1.1515 | 531 |
| 88546 | 0.3540 | 173 |
| 88539 | 0.2599 | 114 |
Top tissues by expression
288 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| synovial joint | UBERON:0002217 | 97.02 | gold quality |
| visceral pleura | UBERON:0002401 | 96.89 | gold quality |
| parietal pleura | UBERON:0002400 | 96.74 | gold quality |
| amniotic fluid | UBERON:0000173 | 96.12 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 95.92 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 95.68 | gold quality |
| palpebral conjunctiva | UBERON:0001812 | 95.61 | gold quality |
| dorsal root ganglion | UBERON:0000044 | 95.43 | gold quality |
| germinal epithelium of ovary | UBERON:0001304 | 95.22 | gold quality |
| superficial temporal artery | UBERON:0001614 | 95.08 | gold quality |
| trigeminal ganglion | UBERON:0001675 | 95.07 | gold quality |
| seminal vesicle | UBERON:0000998 | 94.98 | gold quality |
| trabecular bone tissue | UBERON:0002483 | 94.88 | gold quality |
| lymph node | UBERON:0000029 | 94.76 | gold quality |
| pleura | UBERON:0000977 | 94.63 | gold quality |
| vena cava | UBERON:0004087 | 94.45 | gold quality |
| endothelial cell | CL:0000115 | 94.35 | gold quality |
| tendon of biceps brachii | UBERON:0008188 | 94.34 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 94.26 | gold quality |
| heart right ventricle | UBERON:0002080 | 94.13 | gold quality |
| saphenous vein | UBERON:0007318 | 93.87 | gold quality |
| adult organism | UBERON:0007023 | 93.72 | gold quality |
| urethra | UBERON:0000057 | 93.41 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 93.31 | gold quality |
| renal medulla | UBERON:0000362 | 93.15 | gold quality |
| pericardium | UBERON:0002407 | 92.92 | gold quality |
| pigmented layer of retina | UBERON:0001782 | 92.84 | gold quality |
| colonic epithelium | UBERON:0000397 | 92.70 | gold quality |
| monocyte | CL:0000576 | 92.68 | gold quality |
| caput epididymis | UBERON:0004358 | 92.68 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 3.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-CURD-119 | yes | 22.44 |
| E-MTAB-9067 | yes | 17.51 |
| E-ANND-3 | yes | 10.79 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): NR1I2
miRNA regulators (miRDB)
122 targeting PLEKHA2, 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-8485 | 100.00 | 77.57 | 4731 |
| HSA-MIR-9-5P | 100.00 | 72.28 | 2361 |
| HSA-MIR-7110-3P | 100.00 | 73.18 | 2486 |
| HSA-MIR-6873-3P | 100.00 | 71.42 | 2626 |
| HSA-MIR-513A-5P | 100.00 | 69.77 | 2465 |
| HSA-MIR-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-186-5P | 99.99 | 70.83 | 3707 |
| HSA-MIR-150-5P | 99.99 | 66.69 | 1976 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-371B-5P | 99.99 | 75.34 | 4759 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-373-5P | 99.98 | 75.36 | 4753 |
| HSA-MIR-616-5P | 99.98 | 75.58 | 4775 |
| 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-3065-5P | 99.97 | 71.56 | 3281 |
| HSA-MIR-570-3P | 99.96 | 72.41 | 4910 |
| HSA-MIR-2110 | 99.96 | 66.68 | 1930 |
| HSA-MIR-6778-3P | 99.96 | 67.29 | 2693 |
| HSA-MIR-548AJ-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-548X-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-590-3P | 99.96 | 74.34 | 6478 |
| HSA-MIR-23A-3P | 99.95 | 74.24 | 3163 |
| HSA-MIR-23B-3P | 99.95 | 74.24 | 3163 |
| HSA-MIR-23C | 99.95 | 73.92 | 3192 |
| HSA-MIR-1236-3P | 99.94 | 68.04 | 1695 |
| HSA-MIR-548J-3P | 99.94 | 72.61 | 4881 |
Literature-anchored findings (GeneRIF, showing 2)
- These findings identify TAPP2 as a novel link between PI3K signaling and the cytoskeleton with potential relevance for leukemia progression. (PMID:19786618)
- This study identified TAPP2 as a novel regulator of malignant B cell migration. (PMID:23460911)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | plekha2 | ENSDARG00000078221 |
| mus_musculus | Plekha2 | ENSMUSG00000031557 |
| rattus_norvegicus | Plekha2 | ENSRNOG00000066109 |
Paralogs (1): PLEKHA1 (ENSG00000107679)
Protein
Protein identifiers
Pleckstrin homology domain-containing family A member 2 — Q9HB19 (reviewed: Q9HB19)
Alternative names: Tandem PH domain-containing protein 2
All UniProt accessions (5): A0A087WZ32, A0A087X038, E5RGP3, E5RHB5, Q9HB19
UniProt curated annotations — full annotation on UniProt →
Function. Binds specifically to phosphatidylinositol 3,4-diphosphate (PtdIns3,4P2), but not to other phosphoinositides. May recruit other proteins to the plasma membrane.
Subunit / interactions. Binds MPDZ and PTPN13.
Subcellular location. Cytoplasm. Cell membrane. Nucleus.
Tissue specificity. Highly expressed in heart, kidney, spleen and peripheral blood leukocytes. Detected at lower levels in brain, skeletal muscle, colon, thymus, liver, small intestine, placenta and lung.
RefSeq proteins (2): NP_001397854, NP_067636* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001849 | PH_domain | Domain |
| IPR011993 | PH-like_dom_sf | Homologous_superfamily |
| IPR051707 | PI-Interact_SigTrans_Reg | Family |
Pfam: PF00169
UniProt features (13 total): modified residue 3, domain 2, region of interest 2, compositionally biased region 2, chain 1, cross-link 1, sequence variant 1, sequence conflict 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9HB19-F1 | 72.12 | 0.44 |
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 (4): 141, 184, 314, 349
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-1660499 | Synthesis of PIPs at the plasma membrane |
MSigDB gene sets: 206 (showing top):
GRAESSMANN_APOPTOSIS_BY_SERUM_DEPRIVATION_DN, GOBP_POSITIVE_REGULATION_OF_CELL_ADHESION, GOBP_POSITIVE_REGULATION_OF_CELL_MATRIX_ADHESION, FOSTER_TOLERANT_MACROPHAGE_UP, PID_PI3KCI_PATHWAY, GOBP_REGULATION_OF_CELL_SUBSTRATE_ADHESION, GOBP_REGULATION_OF_CELL_MATRIX_ADHESION, GOBP_CELL_SUBSTRATE_ADHESION, MARTORIATI_MDM4_TARGETS_FETAL_LIVER_UP, GOBP_CELL_MATRIX_ADHESION, GOBP_POSITIVE_REGULATION_OF_CELL_SUBSTRATE_ADHESION, SENESE_HDAC3_TARGETS_DN, PASQUALUCCI_LYMPHOMA_BY_GC_STAGE_DN, GOMF_EXTRACELLULAR_MATRIX_BINDING, THUM_SYSTOLIC_HEART_FAILURE_DN
GO Biological Process (1): positive regulation of cell-matrix adhesion (GO:0001954)
GO Molecular Function (7): fibronectin binding (GO:0001968), phospholipid binding (GO:0005543), PDZ domain binding (GO:0030165), laminin binding (GO:0043236), phosphatidylinositol-3,4-bisphosphate binding (GO:0043325), protein binding (GO:0005515), lipid binding (GO:0008289)
GO Cellular Component (5): nucleus (GO:0005634), cytoplasm (GO:0005737), plasma membrane (GO:0005886), membrane (GO:0016020), protein-containing complex (GO:0032991)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| PI Metabolism | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| protein binding | 2 |
| binding | 2 |
| cellular anatomical structure | 2 |
| regulation of cell-matrix adhesion | 1 |
| cell-matrix adhesion | 1 |
| positive regulation of cell-substrate adhesion | 1 |
| lipid binding | 1 |
| protein domain specific binding | 1 |
| extracellular matrix binding | 1 |
| phosphatidylinositol bisphosphate binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| intracellular anatomical structure | 1 |
| membrane | 1 |
| cell periphery | 1 |
| cellular_component | 1 |
Protein interactions and networks
STRING
1372 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| PLEKHA2 | PLEK2 | Q9NYT0 | 717 |
| PLEKHA2 | TM2D2 | Q9BX73 | 620 |
| PLEKHA2 | HTRA4 | P83105 | 544 |
| PLEKHA2 | UTRN | P46939 | 531 |
| PLEKHA2 | ADAM32 | Q8TC27 | 516 |
| PLEKHA2 | PLEKHA3 | Q9HB20 | 509 |
| PLEKHA2 | TACC1 | O75410 | 478 |
| PLEKHA2 | PLEKHA8 | Q96JA3 | 475 |
| PLEKHA2 | FAM110A | Q9BQ89 | 470 |
| PLEKHA2 | ZMAT4 | Q9H898 | 439 |
| PLEKHA2 | DCUN1D2 | Q6PH85 | 439 |
| PLEKHA2 | TUBGCP5 | Q96RT8 | 414 |
| PLEKHA2 | TACC2 | O95359 | 402 |
| PLEKHA2 | STXBP4 | Q6ZWJ1 | 400 |
| PLEKHA2 | PLEKHA4 | Q9H4M7 | 394 |
IntAct
201 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| PLEKHA2 | MPDZ | psi-mi:“MI:0407”(direct interaction) | 0.700 |
| PLEKHA2 | MPDZ | psi-mi:“MI:0915”(physical association) | 0.700 |
| LNX1 | PLEKHA2 | psi-mi:“MI:0915”(physical association) | 0.680 |
| DLG3 | PLEKHA2 | psi-mi:“MI:0915”(physical association) | 0.680 |
| DLG2 | PLEKHA2 | psi-mi:“MI:0915”(physical association) | 0.680 |
| PLEKHA2 | SNTG1 | psi-mi:“MI:0915”(physical association) | 0.680 |
| PLEKHA2 | SNTG1 | psi-mi:“MI:0407”(direct interaction) | 0.680 |
| PLEKHA2 | LNX1 | psi-mi:“MI:0407”(direct interaction) | 0.680 |
| PLEKHA2 | DLG3 | psi-mi:“MI:0407”(direct interaction) | 0.680 |
| PLEKHA2 | DLG2 | psi-mi:“MI:0407”(direct interaction) | 0.680 |
| YWHAH | PLEKHG3 | psi-mi:“MI:0914”(association) | 0.610 |
| PLEKHA2 | PTPN13 | psi-mi:“MI:0407”(direct interaction) | 0.610 |
| PTPN13 | PLEKHA2 | psi-mi:“MI:0915”(physical association) | 0.610 |
| MPDZ | SMCHD1 | psi-mi:“MI:0914”(association) | 0.590 |
| PLEKHA2 | SNTB1 | psi-mi:“MI:0407”(direct interaction) | 0.590 |
| PLEKHA2 | SNTA1 | psi-mi:“MI:0407”(direct interaction) | 0.590 |
| PLEKHA2 | EGLN3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| PLEKHA2 | TEPSIN | psi-mi:“MI:0915”(physical association) | 0.560 |
| M1AP | PLEKHA2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KANK2 | PLEKHA2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| GOLGA2 | PLEKHA2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| PLEKHA2 | COG6 | psi-mi:“MI:0915”(physical association) | 0.560 |
BioGRID (117): PLEKHA2 (Proximity Label-MS), PLEKHA2 (Affinity Capture-RNA), PLEKHA2 (Affinity Capture-RNA), PLEKHA2 (Affinity Capture-MS), PLEKHA2 (Proximity Label-MS), PTPN13 (Reconstituted Complex), YWHAH (Affinity Capture-MS), KRAS (Affinity Capture-MS), YWHAQ (Affinity Capture-MS), GRB2 (Affinity Capture-MS), RAC2 (Affinity Capture-MS), RALA (Affinity Capture-MS), PTPN6 (Affinity Capture-MS), UTRN (Affinity Capture-MS), TUBGCP2 (Affinity Capture-MS)
ESM2 similar proteins: A1L2W9, B2RQE8, B5XG43, G9CGD6, O08969, O88387, P59113, Q0V987, Q0VC85, Q1KKW7, Q1KKZ1, Q32LP0, Q3UUV5, Q3ZBA3, Q4V7G1, Q503L1, Q53GA4, Q5FVW6, Q5PQT7, Q5R8M5, Q5U597, Q5XGP7, Q5ZL23, Q6P0G8, Q6PG29, Q7Z628, Q7Z6J4, Q80VL0, Q80YS6, Q86UX7, Q86WV1, Q8AW35, Q8BY35, Q8IZC4, Q8K1B8, Q8N556, Q8VH46, Q91ZM9, Q91ZT5, Q925E0
Diamond homologs: B6RSP1, D3ZL52, G9CGD6, O08967, O43739, P54644, P60669, P97434, P97696, Q3UIL6, Q5DU31, Q6IQ23, Q6WCQ1, Q6ZNL6, Q7TQG1, Q80UZ0, Q80VL0, Q80YA9, Q86IV4, Q8BH49, Q8C4V1, Q8N264, Q8N4B1, Q8VC98, Q8WWN9, Q8WXI2, Q99KW3, Q9ERE6, Q9ERS5, Q9H4M7, Q9HAU0, Q9HB19, Q9Y2H5, Q9Z1T4, A1CYS1, A2QNQ5, A6QLU3, P09851, P20936, P42331
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 109 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.
Reactome pathways:
| Pathway | Partners | Fold | FDR |
|---|---|---|---|
| Activation of BAD and translocation to mitochondria | 6 | 63.4× | 2e-08 |
| Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex | 6 | 56.0× | 3e-08 |
| SARS-CoV-1 targets host intracellular signalling and regulatory pathways | 6 | 56.0× | 3e-08 |
| Activation of BH3-only proteins | 6 | 41.4× | 2e-07 |
| Dopamine Neurotransmitter Release Cycle | 5 | 34.5× | 6e-06 |
| Assembly and cell surface presentation of NMDA receptors | 9 | 31.7× | 1e-09 |
| RHO GTPases activate PKNs | 7 | 30.8× | 9e-08 |
| Neurexins and neuroligins | 11 | 30.1× | 2e-11 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| establishment or maintenance of epithelial cell apical/basal polarity | 10 | 56.4× | 6e-13 |
| protein localization to synapse | 6 | 44.6× | 5e-07 |
| receptor clustering | 6 | 36.4× | 1e-06 |
| regulation of postsynaptic membrane neurotransmitter receptor levels | 7 | 33.7× | 3e-07 |
| protein targeting | 8 | 28.4× | 1e-07 |
| protein-containing complex assembly | 9 | 9.9× | 2e-05 |
| cell-cell adhesion | 10 | 9.9× | 7e-06 |
| intracellular protein localization | 9 | 9.2× | 4e-05 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
54 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 39 |
| Likely benign | 3 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2121 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 8:38901441:GGGGG:G | donor_gain | 1.0000 |
| 8:38901442:GGGG:G | donor_gain | 1.0000 |
| 8:38901442:GGGGG:G | donor_gain | 1.0000 |
| 8:38901443:GGG:G | donor_gain | 1.0000 |
| 8:38901443:GGGG:G | donor_gain | 1.0000 |
| 8:38901444:GG:G | donor_gain | 1.0000 |
| 8:38901444:GGG:G | donor_gain | 1.0000 |
| 8:38901445:GG:G | donor_gain | 1.0000 |
| 8:38946110:T:TA | acceptor_gain | 1.0000 |
| 8:38946112:T:TA | acceptor_gain | 1.0000 |
| 8:38946113:G:A | acceptor_gain | 1.0000 |
| 8:38946121:TAGTT:T | acceptor_loss | 1.0000 |
| 8:38946122:A:AG | acceptor_gain | 1.0000 |
| 8:38946122:A:AT | acceptor_loss | 1.0000 |
| 8:38946123:G:GT | acceptor_gain | 1.0000 |
| 8:38946123:GT:G | acceptor_gain | 1.0000 |
| 8:38946123:GTT:G | acceptor_gain | 1.0000 |
| 8:38946123:GTTA:G | acceptor_gain | 1.0000 |
| 8:38946123:GTTAT:G | acceptor_gain | 1.0000 |
| 8:38946217:TCACC:T | donor_gain | 1.0000 |
| 8:38946220:CC:C | donor_gain | 1.0000 |
| 8:38946222:G:GG | donor_gain | 1.0000 |
| 8:38946227:T:G | donor_gain | 1.0000 |
| 8:38950838:C:A | acceptor_gain | 1.0000 |
| 8:38950986:GCCAG:G | donor_gain | 1.0000 |
| 8:38950987:CCAGG:C | donor_loss | 1.0000 |
| 8:38950988:CAGGT:C | donor_loss | 1.0000 |
| 8:38950989:AGGT:A | donor_loss | 1.0000 |
| 8:38950990:GGTGA:G | donor_loss | 1.0000 |
| 8:38950991:GT:G | donor_loss | 1.0000 |
AlphaMissense
2793 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 8:38917955:G:C | R9P | 1.000 |
| 8:38917963:G:T | G12W | 1.000 |
| 8:38917964:G:A | G12E | 1.000 |
| 8:38917966:T:C | F13L | 1.000 |
| 8:38917968:T:A | F13L | 1.000 |
| 8:38917968:T:G | F13L | 1.000 |
| 8:38946186:T:A | W104R | 1.000 |
| 8:38946186:T:C | W104R | 1.000 |
| 8:38946188:G:C | W104C | 1.000 |
| 8:38946188:G:T | W104C | 1.000 |
| 8:38952298:A:G | K207E | 1.000 |
| 8:38952300:G:C | K207N | 1.000 |
| 8:38952300:G:T | K207N | 1.000 |
| 8:38952645:T:A | W215R | 1.000 |
| 8:38952645:T:C | W215R | 1.000 |
| 8:38952647:G:C | W215C | 1.000 |
| 8:38952647:G:T | W215C | 1.000 |
| 8:38952654:C:A | R218S | 1.000 |
| 8:38952661:T:C | F220S | 1.000 |
| 8:38957346:T:C | L266P | 1.000 |
| 8:38957349:T:C | F267S | 1.000 |
| 8:38968619:T:A | W289R | 1.000 |
| 8:38968619:T:C | W289R | 1.000 |
| 8:38917934:C:A | P2H | 0.999 |
| 8:38917963:G:A | G12R | 0.999 |
| 8:38917963:G:C | G12R | 0.999 |
| 8:38917964:G:T | G12V | 0.999 |
| 8:38917970:T:C | L14P | 0.999 |
| 8:38918014:T:G | Y29D | 0.999 |
| 8:38918018:T:C | F30S | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000045674 (8:38918771 A>G), RS1000077674 (8:38921211 T>C), RS1000165257 (8:38928269 G>A), RS1000248745 (8:38960500 G>A,T), RS1000253307 (8:38949031 C>T), RS1000364789 (8:38927976 A>C), RS1000370870 (8:38927334 AAAAAT>A), RS1000460634 (8:38973390 G>A), RS1000493382 (8:38967321 G>A,C), RS1000507103 (8:38961385 A>C), RS1000507246 (8:38945253 G>A), RS1000526216 (8:38932755 C>T), RS1000558718 (8:38901995 C>T), RS1000633156 (8:38908710 A>G), RS1000639988 (8:38938498 TG>T)
Disease associations
OMIM: gene MIM:607773 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
2 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST008444_8 | High density lipoprotein cholesterol levels | 8.000000e-06 |
| GCST90002394_275 | Monocyte percentage of white cells | 4.000000e-11 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004612 | high density lipoprotein cholesterol measurement |
| EFO:0007989 | monocyte percentage of leukocytes |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
63 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, increases expression | 5 |
| Benzo(a)pyrene | decreases expression, decreases methylation, increases expression, affects methylation | 4 |
| 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide | decreases expression | 3 |
| Cyclosporine | decreases expression | 3 |
| Particulate Matter | increases abundance, affects cotreatment, decreases expression | 3 |
| mercuric bromide | affects cotreatment, increases expression | 2 |
| entinostat | increases expression, affects cotreatment | 2 |
| (+)-JQ1 compound | decreases expression | 2 |
| Air Pollutants | increases abundance, decreases expression | 2 |
| Ethanol | decreases expression, increases abundance, affects cotreatment, increases expression | 2 |
| Phenylmercuric Acetate | affects cotreatment, increases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| FR900359 | decreases phosphorylation | 1 |
| TAK-243 | increases sumoylation | 1 |
| trichostatin A | increases expression | 1 |
| sodium arsenite | decreases expression | 1 |
| potassium chromate(VI) | decreases expression | 1 |
| cupric chloride | decreases expression | 1 |
| S-(1,2-dichlorovinyl)cysteine | affects response to substance, increases expression, affects cotreatment, decreases expression | 1 |
| 2-palmitoylglycerol | increases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression | 1 |
| torcetrapib | increases expression | 1 |
| belinostat | decreases expression | 1 |
| abrine | decreases expression | 1 |
| dorsomorphin | affects cotreatment, increases expression | 1 |
| licochalcone B | decreases expression | 1 |
| bisphenol S | increases expression | 1 |
| Decitabine | affects expression | 1 |
| Sunitinib | increases expression | 1 |
| Vorinostat | 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.