PLEKHA4
gene geneOn this page
Also known as PEPP1
Summary
PLEKHA4 (pleckstrin homology domain containing A4, HGNC:14339) is a protein-coding gene on chromosome 19q13.33, encoding Pleckstrin homology domain-containing family A member 4 (Q9H4M7). Binds specifically to phosphatidylinositol 3-phosphate (PtdIns3P), but not to other phosphoinositides.
This gene encodes a pleckstrin homology (PH) domain-containing protein. The PH domain is found near the N-terminus and contains a putative phosphatidylinositol 3, 4, 5-triphosphate-binding motif (PPBM). Elevated expression of this gene has been observed in some melanomas. Alternate splicing results in multiple transcript variants encoding different isoforms.
Source: NCBI Gene 57664 — RefSeq curated summary.
At a glance
- GWAS associations: 20
- Clinical variants (ClinVar): 190 total
- MANE Select transcript:
NM_020904
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:14339 |
| Approved symbol | PLEKHA4 |
| Name | pleckstrin homology domain containing A4 |
| Location | 19q13.33 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | PEPP1 |
| Ensembl gene | ENSG00000105559 |
| Ensembl biotype | protein_coding |
| OMIM | 607769 |
| Entrez | 57664 |
Gene structure
Transcript identifiers
Ensembl transcripts: 36 — 23 protein_coding, 6 protein_coding_CDS_not_defined, 4 retained_intron, 3 nonsense_mediated_decay
ENST00000263265, ENST00000355496, ENST00000593696, ENST00000594100, ENST00000594195, ENST00000595867, ENST00000596713, ENST00000596982, ENST00000597129, ENST00000597406, ENST00000601146, ENST00000706736, ENST00000706737, ENST00000706738, ENST00000706739, ENST00000706740, ENST00000882966, ENST00000882967, ENST00000882968, ENST00000882969, ENST00000882970, ENST00000882971, ENST00000882972, ENST00000882973, ENST00000882974, ENST00000882975, ENST00000882976, ENST00000882977, ENST00000882978, ENST00000882979, ENST00000882980, ENST00000882981, ENST00000956195, ENST00000956196, ENST00000956197, ENST00000956198
RefSeq mRNA: 2 — MANE Select: NM_020904
NM_001161354, NM_020904
CCDS: CCDS12737, CCDS54291
Canonical transcript exons
ENST00000263265 — 20 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000718336 | 48865503 | 48865610 |
| ENSE00000853366 | 48861620 | 48861692 |
| ENSE00001130298 | 48858860 | 48859139 |
| ENSE00003081233 | 48868083 | 48868617 |
| ENSE00003109576 | 48867537 | 48867626 |
| ENSE00003612362 | 48859469 | 48859684 |
| ENSE00003620657 | 48837097 | 48837551 |
| ENSE00003654297 | 48860350 | 48860459 |
| ENSE00003692398 | 48861401 | 48861501 |
| ENSE00003996638 | 48847900 | 48848040 |
| ENSE00003996639 | 48839205 | 48839263 |
| ENSE00003996640 | 48852228 | 48852326 |
| ENSE00003996641 | 48857422 | 48857496 |
| ENSE00003996643 | 48845370 | 48845446 |
| ENSE00003996644 | 48845517 | 48845616 |
| ENSE00003996645 | 48841149 | 48841310 |
| ENSE00003996646 | 48838017 | 48838129 |
| ENSE00003996800 | 48853682 | 48853831 |
| ENSE00003996808 | 48854007 | 48854087 |
| ENSE00003996817 | 48854217 | 48854264 |
Expression profiles
Bgee: expression breadth ubiquitous, 183 present calls, max score 99.29.
FANTOM5 (CAGE): breadth broad, TPM avg 2.5427 / max 270.8328, expressed in 800 samples.
FANTOM5 promoters (5 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 181943 | 0.8483 | 348 |
| 181942 | 0.7365 | 162 |
| 208889 | 0.5477 | 224 |
| 181941 | 0.3079 | 136 |
| 181940 | 0.1024 | 39 |
Top tissues by expression
281 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| sural nerve | UBERON:0015488 | 99.29 | gold quality |
| tibial nerve | UBERON:0001323 | 99.24 | gold quality |
| trigeminal ganglion | UBERON:0001675 | 95.35 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 95.06 | gold quality |
| dorsal root ganglion | UBERON:0000044 | 93.52 | gold quality |
| apex of heart | UBERON:0002098 | 93.26 | gold quality |
| right ovary | UBERON:0002118 | 92.98 | gold quality |
| thoracic aorta | UBERON:0001515 | 92.86 | gold quality |
| mucosa of stomach | UBERON:0001199 | 92.73 | gold quality |
| ascending aorta | UBERON:0001496 | 92.68 | gold quality |
| left coronary artery | UBERON:0001626 | 92.67 | gold quality |
| left ovary | UBERON:0002119 | 92.23 | gold quality |
| tendon of biceps brachii | UBERON:0008188 | 92.12 | gold quality |
| coronary artery | UBERON:0001621 | 91.39 | gold quality |
| adenohypophysis | UBERON:0002196 | 91.13 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 90.53 | gold quality |
| right coronary artery | UBERON:0001625 | 90.49 | gold quality |
| left uterine tube | UBERON:0001303 | 90.44 | gold quality |
| right atrium auricular region | UBERON:0006631 | 90.16 | gold quality |
| lower esophagus | UBERON:0013473 | 90.11 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 90.11 | gold quality |
| aorta | UBERON:0000947 | 89.93 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 89.86 | gold quality |
| body of uterus | UBERON:0009853 | 89.74 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 89.50 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 89.31 | gold quality |
| right lobe of liver | UBERON:0001114 | 88.83 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 88.54 | gold quality |
| cardiac atrium | UBERON:0002081 | 88.27 | gold quality |
| omental fat pad | UBERON:0010414 | 88.06 | gold quality |
Single-cell (SCXA)
Detected in 4 experiment(s), a significant marker in 4.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-GEOD-135922 | yes | 1160.76 |
| E-MTAB-7052 | yes | 172.38 |
| E-MTAB-8142 | yes | 15.18 |
| E-ANND-3 | yes | 10.96 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
17 targeting PLEKHA4, 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-6870-5P | 99.99 | 68.55 | 2115 |
| HSA-MIR-32-3P | 99.36 | 68.20 | 2517 |
| HSA-MIR-3973 | 99.20 | 69.19 | 1990 |
| HSA-MIR-4292 | 99.16 | 65.57 | 1767 |
| HSA-MIR-6791-5P | 99.16 | 65.92 | 1844 |
| HSA-MIR-520G-3P | 98.91 | 67.38 | 1914 |
| HSA-MIR-520H | 98.91 | 67.38 | 1914 |
| HSA-MIR-7113-3P | 98.75 | 65.71 | 1120 |
| HSA-MIR-615-5P | 98.10 | 63.76 | 591 |
| HSA-MIR-637 | 97.91 | 64.05 | 1517 |
| HSA-MIR-320E | 97.49 | 65.96 | 865 |
| HSA-MIR-3187-3P | 97.38 | 65.80 | 904 |
| HSA-MIR-4313 | 97.18 | 63.15 | 420 |
| HSA-MIR-181D-3P | 96.23 | 63.96 | 81 |
| HSA-MIR-7976 | 95.75 | 65.67 | 1186 |
| HSA-MIR-1228-5P | 93.60 | 63.91 | 91 |
| HSA-MIR-6795-3P | 91.86 | 63.00 | 218 |
Literature-anchored findings (GeneRIF, showing 5)
- PLEKHA4/kramer Attenuates Dishevelled Ubiquitination to Modulate Wnt and Planar Cell Polarity Signaling. (PMID:31091453)
- PLEKHA4 Promotes Wnt/beta-Catenin Signaling-Mediated G1-S Transition and Proliferation in Melanoma. (PMID:33574086)
- PLEKHA4 Is a Prognostic Biomarker and Correlated with Immune Infiltrates in Glioma. (PMID:36714030)
- PLEKHA4 is Associated with Tumour Microenvironment, Stemness, Proliferation and Poor Prognosis of Gliomas. (PMID:37735118)
- PLEKHA4 promotes glioblastoma progression through apoptosis inhibition, tumor cell migration, and macrophage infiltration. (PMID:37980830)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | si:ch211-234p6.5 | ENSDARG00000071460 |
| mus_musculus | Plekha4 | ENSMUSG00000040428 |
| rattus_norvegicus | Plekha4 | ENSRNOG00000020942 |
Paralogs (3): PLEKHA5 (ENSG00000052126), PLEKHA6 (ENSG00000143850), PLEKHA7 (ENSG00000166689)
Protein
Protein identifiers
Pleckstrin homology domain-containing family A member 4 — Q9H4M7 (reviewed: Q9H4M7)
Alternative names: Phosphoinositol 3-phosphate-binding protein 1
All UniProt accessions (5): Q9H4M7, A0A9L9PXT3, M0QXJ3, M0R0J1, M0R2K5
UniProt curated annotations — full annotation on UniProt →
Function. Binds specifically to phosphatidylinositol 3-phosphate (PtdIns3P), but not to other phosphoinositides.
Subcellular location. Cytoplasm. Membrane.
Tissue specificity. Highly expressed in melanoma. Detected at low levels in heart, skeletal muscle, kidney, liver and small intestine.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9H4M7-1 | 1 | yes |
| Q9H4M7-2 | 2 |
RefSeq proteins (2): NP_001154826, NP_065955* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001849 | PH_domain | Domain |
| IPR011993 | PH-like_dom_sf | Homologous_superfamily |
| IPR040392 | PKHA4-7_PH | Domain |
| IPR057971 | PKHA4-7_TBCA | Domain |
Pfam: PF00169, PF25541
UniProt features (33 total): strand 8, compositionally biased region 7, sequence variant 4, splice variant 3, region of interest 3, modified residue 2, sequence conflict 2, helix 2, chain 1, domain 1
Structure
Experimental structures (PDB)
3 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 1UPQ | X-RAY DIFFRACTION | 1.48 |
| 8OIO | X-RAY DIFFRACTION | 1.95 |
| 1UPR | X-RAY DIFFRACTION | 2.27 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9H4M7-F1 | 58.18 | 0.23 |
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 (2): 164, 559
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-1660499 | Synthesis of PIPs at the plasma membrane |
MSigDB gene sets: 107 (showing top):
MYOGENIN_Q6, GCANCTGNY_MYOD_Q6, GOBP_NON_CANONICAL_WNT_SIGNALING_PATHWAY, GOBP_REGULATION_OF_NON_CANONICAL_WNT_SIGNALING_PATHWAY, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, DARWICHE_SKIN_TUMOR_PROMOTER_UP, DARWICHE_PAPILLOMA_RISK_LOW_UP, DARWICHE_PAPILLOMA_RISK_HIGH_UP, DARWICHE_SQUAMOUS_CELL_CARCINOMA_UP, GOBP_REGULATION_OF_WNT_SIGNALING_PATHWAY, GGGTGGRR_PAX4_03, CAGCTG_AP4_Q5, FOSTER_TOLERANT_MACROPHAGE_UP, GOBP_CANONICAL_WNT_SIGNALING_PATHWAY, GOBP_POSITIVE_REGULATION_OF_NON_CANONICAL_WNT_SIGNALING_PATHWAY
GO Biological Process (2): positive regulation of canonical Wnt signaling pathway (GO:0090263), positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)
GO Molecular Function (7): phosphatidylinositol-4,5-bisphosphate binding (GO:0005546), phosphatidylinositol-3-phosphate binding (GO:0032266), identical protein binding (GO:0042802), phosphatidylinositol-3,4-bisphosphate binding (GO:0043325), phosphatidylinositol-3,5-bisphosphate binding (GO:0080025), protein binding (GO:0005515), lipid binding (GO:0008289)
GO Cellular Component (4): cytoplasm (GO:0005737), plasma membrane (GO:0005886), extrinsic component of cytoplasmic side of plasma membrane (GO:0031234), membrane (GO:0016020)
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 |
|---|---|
| phosphatidylinositol phosphate binding | 3 |
| phosphatidylinositol bisphosphate binding | 3 |
| binding | 2 |
| cellular anatomical structure | 2 |
| positive regulation of Wnt signaling pathway | 1 |
| canonical Wnt signaling pathway | 1 |
| regulation of canonical Wnt signaling pathway | 1 |
| Wnt signaling pathway, planar cell polarity pathway | 1 |
| positive regulation of non-canonical Wnt signaling pathway | 1 |
| regulation of Wnt signaling pathway, planar cell polarity pathway | 1 |
| protein binding | 1 |
| intracellular anatomical structure | 1 |
| membrane | 1 |
| cell periphery | 1 |
| cytoplasmic side of plasma membrane | 1 |
| extrinsic component of plasma membrane | 1 |
Protein interactions and networks
STRING
6385 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| PLEKHA4 | PLEK | P08567 | 735 |
| PLEKHA4 | PLEK2 | Q9NYT0 | 733 |
| PLEKHA4 | KLHL12 | Q53G59 | 696 |
| PLEKHA4 | TMEM65 | Q6PI78 | 507 |
| PLEKHA4 | M0QYG6 | M0QYG6 | 506 |
| PLEKHA4 | PLEKHA3 | Q9HB20 | 496 |
| PLEKHA4 | NXPE3 | Q969Y0 | 472 |
| PLEKHA4 | TAC4 | Q86UU9 | 435 |
| PLEKHA4 | RECQL4 | O94761 | 433 |
| PLEKHA4 | EFTUD2 | Q15029 | 427 |
| PLEKHA4 | RAVER1 | Q8IY67 | 417 |
| PLEKHA4 | SLC6A20 | Q9NP91 | 406 |
| PLEKHA4 | LZTFL1 | Q9NQ48 | 401 |
| PLEKHA4 | HSPA1A | P08107 | 397 |
| PLEKHA4 | PLEKHA2 | Q9HB19 | 394 |
IntAct
15 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| PNMA2 | CCDC85C | psi-mi:“MI:0914”(association) | 0.530 |
| ankX | PLEKHA4 | psi-mi:“MI:0915”(physical association) | 0.520 |
| PLEKHA4 | SHANK3 | psi-mi:“MI:0915”(physical association) | 0.370 |
| ABL1 | PLEKHA4 | psi-mi:“MI:0915”(physical association) | 0.370 |
| PLEKHA4 | PTPN11 | psi-mi:“MI:0915”(physical association) | 0.370 |
| CCNG1 | PLEKHA4 | psi-mi:“MI:0915”(physical association) | 0.370 |
| PLEKHA4 | PRKAA1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| BMI1 | HMGB1P1 | psi-mi:“MI:0914”(association) | 0.350 |
| BMI1 | MEIS3P1 | psi-mi:“MI:0914”(association) | 0.350 |
| PLEKHA4 | EEF1G | psi-mi:“MI:0915”(physical association) | 0.000 |
| PLEKHA4 | KAT5 | psi-mi:“MI:0915”(physical association) | 0.000 |
| PLEKHA4 | RIF1 | psi-mi:“MI:0915”(physical association) | 0.000 |
| PLEKHA4 | SETDB1 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (2977): PLEKHA4 (Two-hybrid), PLEKHA4 (Two-hybrid), EEF1G (Two-hybrid), KAT5 (Two-hybrid), LRIF1 (Two-hybrid), SETDB1 (Two-hybrid), PLEKHA4 (Two-hybrid), KLHL12 (Two-hybrid), MEI4 (Two-hybrid), KLHL12 (Affinity Capture-Western), KLHL12 (Co-localization), AAMP (Affinity Capture-MS), AARS (Affinity Capture-MS), ABCB7 (Affinity Capture-MS), ABCF1 (Affinity Capture-MS)
ESM2 similar proteins: A2A699, A4D1S0, A6NEL2, A8MVW0, B0BN44, B2RU40, C9JH25, D4A9R4, O43593, P03972, P0CG20, P0DPE3, P60669, P79295, Q14761, Q1HCM0, Q2M3G4, Q3UPH7, Q5F267, Q5FWE3, Q5SW24, Q5U2P6, Q5XJV6, Q64322, Q64697, Q6P1B3, Q6PE13, Q6UWD8, Q6ZS72, Q80W87, Q8BG26, Q8BZW2, Q8C310, Q8C708, Q8CII8, Q8IYJ0, Q8NAV2, Q8TER5, Q8VC98, Q8WZ75
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, A2CEA7, A7KAN4, I1S8Q3, O14827, P0CN90, P0CN91
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
190 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 148 |
| Likely benign | 6 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2828 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 19:48838130:C:CC | acceptor_gain | 1.0000 |
| 19:48841147:AC:A | donor_gain | 1.0000 |
| 19:48841148:CC:C | donor_gain | 1.0000 |
| 19:48845615:CT:C | acceptor_gain | 1.0000 |
| 19:48845617:C:CC | acceptor_gain | 1.0000 |
| 19:48845626:T:TC | acceptor_gain | 1.0000 |
| 19:48847896:TTAC:T | donor_loss | 1.0000 |
| 19:48847897:TACC:T | donor_loss | 1.0000 |
| 19:48847898:ACC:A | donor_loss | 1.0000 |
| 19:48847898:ACCT:A | donor_gain | 1.0000 |
| 19:48847898:ACCTC:A | donor_gain | 1.0000 |
| 19:48847899:C:CT | donor_loss | 1.0000 |
| 19:48847899:CCTC:C | donor_gain | 1.0000 |
| 19:48847899:CCTCC:C | donor_gain | 1.0000 |
| 19:48847902:C:A | donor_gain | 1.0000 |
| 19:48848036:CTGTC:C | acceptor_gain | 1.0000 |
| 19:48848037:TGTC:T | acceptor_gain | 1.0000 |
| 19:48848038:GTC:G | acceptor_gain | 1.0000 |
| 19:48848039:TC:T | acceptor_gain | 1.0000 |
| 19:48848040:CC:C | acceptor_gain | 1.0000 |
| 19:48848041:C:CC | acceptor_gain | 1.0000 |
| 19:48852329:CAGGT:C | acceptor_gain | 1.0000 |
| 19:48852333:T:C | acceptor_gain | 1.0000 |
| 19:48852333:T:TC | acceptor_gain | 1.0000 |
| 19:48852336:C:CT | acceptor_gain | 1.0000 |
| 19:48852337:A:AC | acceptor_gain | 1.0000 |
| 19:48852337:A:C | acceptor_gain | 1.0000 |
| 19:48853676:GCTCA:G | donor_loss | 1.0000 |
| 19:48853677:CTCA:C | donor_loss | 1.0000 |
| 19:48853678:TCACC:T | donor_loss | 1.0000 |
AlphaMissense
4919 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 19:48861659:A:G | W76R | 1.000 |
| 19:48861659:A:T | W76R | 1.000 |
| 19:48865506:C:A | K63N | 1.000 |
| 19:48865506:C:G | K63N | 1.000 |
| 19:48860394:C:A | W144C | 0.999 |
| 19:48860394:C:G | W144C | 0.999 |
| 19:48860396:A:G | W144R | 0.999 |
| 19:48860396:A:T | W144R | 0.999 |
| 19:48861405:A:G | F121S | 0.999 |
| 19:48861473:G:C | S98R | 0.999 |
| 19:48861473:G:T | S98R | 0.999 |
| 19:48861475:T:G | S98R | 0.999 |
| 19:48861629:A:C | Y86D | 0.999 |
| 19:48861630:A:C | F85L | 0.999 |
| 19:48861630:A:T | F85L | 0.999 |
| 19:48861632:A:G | F85L | 0.999 |
| 19:48861652:A:T | V78D | 0.999 |
| 19:48861654:G:C | F77L | 0.999 |
| 19:48861654:G:T | F77L | 0.999 |
| 19:48861655:A:G | F77S | 0.999 |
| 19:48861656:A:G | F77L | 0.999 |
| 19:48861657:C:A | W76C | 0.999 |
| 19:48861657:C:G | W76C | 0.999 |
| 19:48861662:G:T | R75S | 0.999 |
| 19:48861667:T:A | K73I | 0.999 |
| 19:48861669:C:A | W72C | 0.999 |
| 19:48861669:C:G | W72C | 0.999 |
| 19:48861671:A:G | W72R | 0.999 |
| 19:48861671:A:T | W72R | 0.999 |
| 19:48865508:T:C | K63E | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000075488 (19:48855870 A>G,T), RS1000148653 (19:48856942 A>G), RS1000213220 (19:48846229 G>A), RS1000244107 (19:48845871 C>T), RS1000371263 (19:48866885 C>G), RS1000545623 (19:48844940 G>A,C), RS1000572694 (19:48850534 A>C), RS1000659805 (19:48870534 AG>A), RS1000755666 (19:48838285 A>C), RS1000983346 (19:48844729 T>A,C), RS1000993143 (19:48848485 C>A), RS1001102979 (19:48837840 G>A), RS1001191812 (19:48839140 C>T), RS1001264734 (19:48856038 G>A), RS1001329919 (19:48863448 G>T)
Disease associations
OMIM: gene MIM:607769 | disease phenotypes:
GenCC curated gene-disease
Mondo (1): prostate cancer (MONDO:0008315)
Orphanet (1): Familial prostate cancer (Orphanet:1331)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
20 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST004611_154 | High light scatter reticulocyte count | 5.000000e-09 |
| GCST004611_155 | High light scatter reticulocyte count | 6.000000e-13 |
| GCST004612_176 | High light scatter reticulocyte percentage of red cells | 4.000000e-10 |
| GCST004612_177 | High light scatter reticulocyte percentage of red cells | 1.000000e-14 |
| GCST004619_64 | Reticulocyte fraction of red cells | 4.000000e-13 |
| GCST004619_94 | Reticulocyte fraction of red cells | 3.000000e-15 |
| GCST004622_79 | Reticulocyte count | 7.000000e-11 |
| GCST004622_80 | Reticulocyte count | 1.000000e-12 |
| GCST90002385_518 | High light scatter reticulocyte count | 4.000000e-33 |
| GCST90002385_519 | High light scatter reticulocyte count | 2.000000e-34 |
| GCST90002386_214 | High light scatter reticulocyte percentage of red cells | 5.000000e-38 |
| GCST90002387_149 | Immature fraction of reticulocytes | 2.000000e-14 |
| GCST90002387_150 | Immature fraction of reticulocytes | 5.000000e-19 |
| GCST90002390_661 | Mean corpuscular hemoglobin | 2.000000e-10 |
| GCST90002390_662 | Mean corpuscular hemoglobin | 3.000000e-14 |
| GCST90002392_78 | Mean corpuscular volume | 6.000000e-10 |
| GCST90002405_555 | Reticulocyte count | 8.000000e-31 |
| GCST90002405_556 | Reticulocyte count | 4.000000e-29 |
| GCST90002406_533 | Reticulocyte fraction of red cells | 2.000000e-36 |
| GCST90002406_534 | Reticulocyte fraction of red cells | 2.000000e-34 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007986 | reticulocyte count |
| EFO:0004527 | mean corpuscular hemoglobin |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D011471 | Prostatic Neoplasms | C04.588.945.440.770; C12.100.500.260.750; C12.100.500.565.625; C12.200.294.260.750; C12.200.294.565.625; C12.200.758.409.750; C12.900.619.750 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
28 total (human), top 28 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | affects expression, increases abundance, increases expression | 3 |
| Benzo(a)pyrene | increases expression, increases methylation, affects methylation, decreases methylation | 2 |
| Nickel | increases expression | 2 |
| Cadmium Chloride | decreases expression, increases abundance | 2 |
| aristolochic acid I | increases expression | 1 |
| FR900359 | increases phosphorylation | 1 |
| S-(1,2-dichlorovinyl)cysteine | decreases reaction, increases expression | 1 |
| entinostat | increases expression | 1 |
| abrine | increases expression | 1 |
| eprenetapopt | affects expression, affects reaction | 1 |
| (+)-JQ1 compound | decreases expression | 1 |
| Temozolomide | increases expression | 1 |
| Sunitinib | decreases expression | 1 |
| Air Pollutants | increases expression, increases abundance | 1 |
| Arsenic | affects expression, increases abundance | 1 |
| Cadmium | decreases expression, increases abundance | 1 |
| Caffeine | decreases phosphorylation | 1 |
| Camptothecin | increases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Estradiol | affects cotreatment, decreases expression | 1 |
| Lipopolysaccharides | increases expression, decreases reaction | 1 |
| Silicon Dioxide | decreases expression | 1 |
| Smoke | decreases expression | 1 |
| Tobacco Smoke Pollution | decreases expression | 1 |
| Valproic Acid | decreases expression | 1 |
| 1-Methyl-4-phenylpyridinium | increases expression | 1 |
| Sodium Selenite | decreases expression | 1 |
| Particulate Matter | increases abundance, increases expression | 1 |
Cellosaurus cell lines
2 cell lines: 2 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_B1GZ | Abcam A-549 PLEKHA4 KO 1 | Cancer cell line | Male |
| CVCL_B2PI | Abcam A-549 PLEKHA4 KO 2 | Cancer cell line | Male |
Clinical trials (associated diseases)
300 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00029224 | PHASE4 | COMPLETED | Treatment With Zoledronic Acid in Patients With Breast Cancer, Multiple Myeloma, and Prostate Cancer With Cancer Related Bone Lesions |
| NCT00035997 | PHASE4 | COMPLETED | Open-label Trial on the Effect of I.V. Zoledronic Acid 4 mg on Bone Density in Hormone Sensitive Prostate Cancer Patients With Bone Metastasis |
| NCT00063609 | PHASE4 | COMPLETED | The Effect of Zoledronic Acid on Bone Loss in Prostate Cancer Patients Undergoing Androgen Deprivation Therapy |
| NCT00103623 | PHASE4 | SUSPENDED | The Plenaxis® Experience Study |
| NCT00106392 | PHASE4 | COMPLETED | A Safety and Efficacy Study of Prograf in the Prevention of Erectile Dysfunction After Radical Prostatectomy |
| NCT00185029 | PHASE4 | UNKNOWN | MR-Lymphography and Lymph Node Staging in Prostate Cancer |
| NCT00199485 | PHASE4 | COMPLETED | Angelica Sinensis for the Treatment of Hot Flashes in Men Undergoing LHRH Therapy for Prostate Cancer |
| NCT00219219 | PHASE4 | COMPLETED | Zoledronic Acid in the Prevention of Skeletal-related Events in Hormone Refractory and Hormone-sensitive Prostate Cancer Patients With Bone Metastases |
| NCT00219271 | PHASE4 | COMPLETED | Effect Of Zoledronic Acid On Circulating And Bone Marrow-Residing Prostate Cancer Cells In Patients With Clinically Localized Prostate Cancer |
| NCT00237146 | PHASE4 | COMPLETED | Study to Evaluate Zoledronic Acid on Quality of Life and Skeletal-related Events as Adjuvant Treatment in Patients With Hormone-naïve Prostate Cancer and Bone Metastasis Who Have Undergone Orchiectomy |
| NCT00242554 | PHASE4 | COMPLETED | Open-label Phase IV Clinical Trial to Evaluate the Safety and Tolerability of Zoledronic Acid in Patients With Prostate Cancer and Bone Metastases |
| NCT00280098 | PHASE4 | COMPLETED | Docetaxel in the Treatment of Hormone Refractory Prostate Cancer |
| NCT00293696 | PHASE4 | COMPLETED | Casodex/Zoladex Biomarkers in Localised Prostate Cancer |
| NCT00334139 | PHASE4 | COMPLETED | Effect of Zoledronic Acid on Bone Metabolism in Patients With Bone Metastasis and Prostate or Breast Cancer |
| NCT00375765 | PHASE4 | COMPLETED | Effects On Dihydrotestosterone Regulated Gene Expression In Benign Prostatic Hyperplasia Or Prostate Cancer |
| NCT00391690 | PHASE4 | COMPLETED | Evaluation of Bone Markers as Diagnostic Tools for Early Detection of Bone Metastases in Patients With High Risk Prostate Cancer |
| NCT00422708 | PHASE4 | COMPLETED | Local Anesthesia for Prostate Biopsy |
| NCT00526331 | PHASE4 | COMPLETED | Evaluation of Arterial Pressure Based Cardiac Output for Goal-Directed Perioperative Therapy |
| NCT00590213 | PHASE4 | COMPLETED | Compare the Value of Prophylactic Versus Therapeutic Breast Radiotherapy in CASODEX |
| NCT00629330 | PHASE4 | TERMINATED | Dissemination of Prostate Cancer Screening to PCP’s in African American Communities |
| NCT00771966 | PHASE4 | COMPLETED | Radical Prostatectomy and Perioperative Fluid Therapy |
| NCT00805701 | PHASE4 | COMPLETED | Study Assessing The Efficacy And Safety Of Avodart (Dutasteride) At Improving Urinary Symptoms In Men With Prostate Cancer Who Are Undergoing Seed Implantation |
| NCT00859027 | PHASE4 | COMPLETED | Effect Of Risedronate On Bone Mass In Older Men Receiving Neoadjuvant Therapy For Prostate Cancer |
| NCT00906269 | PHASE4 | UNKNOWN | Can Hyperbaric Oxygen Improve Erectile Function Following Surgery for Prostate Cancer |
| NCT00953277 | PHASE4 | COMPLETED | Study of Nerve Reconstruction Using AVANCE in Subjects Who Undergo Robotic Assisted Prostatectomy for Treatment of Prostate Cancer |
| NCT00982800 | PHASE4 | COMPLETED | Does Postoperative Gabapentin Reduce Pain, Opioid Consumption and Anxiety and Have a Positive Effect on Health Related Quality of Life After Radical Prostatectomy? |
| NCT01083199 | PHASE4 | COMPLETED | Global Performance Evaluation of the AMS CONTINUUM™ Device |
| NCT01136226 | PHASE4 | COMPLETED | Evaluate Recovery of Testosterone for Patients Using Eligard |
| NCT01161563 | PHASE4 | COMPLETED | Randomized Crossover Trial to Assess the Tolerability of Gonadotropin Releasing Hormone (GnRH) Analogue Administration |
| NCT01230905 | PHASE4 | COMPLETED | Study to Monitor the Effects of Androgen Suppression Treatment on the Heart |
| NCT01296672 | PHASE4 | COMPLETED | 3 Month Finasteride Challenge Test Can Significantly Improve the Performance of Screening for Prostate Cancer |
| NCT01365143 | PHASE4 | TERMINATED | Prospective Randomized Trial Comparing Robotic Versus Open Radical Prostatectomy |
| NCT01379742 | PHASE4 | UNKNOWN | Comparison of Between ThinSeed™ and OncoSeed™ for Permanent Prostate Brachytherapy |
| NCT01486563 | PHASE4 | COMPLETED | Hydroxyethyl Starch and Renal Function After Radical Prostatectomy |
| NCT01511874 | PHASE4 | COMPLETED | Efficacy and Safety Study of ELIGARD 22.5mg With Prostate Cancer |
| NCT01512472 | PHASE4 | TERMINATED | Firmagon (Degarelix) Intermittent Therapy |
| NCT01547416 | PHASE4 | COMPLETED | The Effect of Combined General/Epidural Anesthesia Versus General Anesthesia on Diaphragmatic Function |
| NCT01571544 | PHASE4 | COMPLETED | The Use of Thermal Suits as Preventing Hypothermia During Surgery |
| NCT01581749 | PHASE4 | UNKNOWN | Evaluation of Truebeam for Low-Intermediate Risk Prostate Cancer |
| NCT01649635 | PHASE4 | COMPLETED | Study of Cabazitaxel Combined With Prednisone and Prophylaxis of Neutropenia Complications in the Treatment of Patients With Metastatic Castration-resistant Prostate Cancer |
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.