PRR5
gene geneOn this page
Also known as PP610FLJ20185kProtor-1.PROTOR1
Summary
PRR5 (proline rich 5, HGNC:31682) is a protein-coding gene on chromosome 22q13.31, encoding Proline-rich protein 5 (P85299). Associated subunit of mTORC2, which regulates cell growth and survival in response to hormonal signals. mTORC2 is activated by growth factors, but, in contrast to mTORC1, seems to be nutrient-insensitive. mTORC2 seems to function upstream of Rho GTPases to regulate the actin cyt….
This gene encodes a protein with a proline-rich domain. This gene is located in a region of chromosome 22 reported to contain a tumor suppressor gene that may be involved in breast and colorectal tumorigenesis. The protein is a component of the mammalian target of rapamycin complex 2 (mTORC2), and it regulates platelet-derived growth factor (PDGF) receptor beta expression and PDGF signaling to Akt and S6K1. Alternative splicing and the use of alternative promoters results in transcripts encoding different isoforms. Read-through transcripts from this gene into the downstream Rho GTPase activating protein 8 (ARHGAP8) gene also exist, which led to the original description of PRR5 and ARHGAP8 being a single gene.
Source: NCBI Gene 55615 — RefSeq curated summary.
At a glance
- GWAS associations: 3
- Clinical variants (ClinVar): 80 total
- MANE Select transcript:
NM_181333
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:31682 |
| Approved symbol | PRR5 |
| Name | proline rich 5 |
| Location | 22q13.31 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | PP610, FLJ20185k, Protor-1., PROTOR1 |
| Ensembl gene | ENSG00000186654 |
| Ensembl biotype | protein_coding |
| OMIM | 609406 |
| Entrez | 55615 |
Gene structure
Transcript identifiers
Ensembl transcripts: 16 — 8 protein_coding, 4 protein_coding_CDS_not_defined, 2 nonsense_mediated_decay, 2 retained_intron
ENST00000006251, ENST00000336985, ENST00000403581, ENST00000403696, ENST00000431834, ENST00000432186, ENST00000432916, ENST00000455389, ENST00000457960, ENST00000459857, ENST00000475850, ENST00000477331, ENST00000492289, ENST00000492475, ENST00000495017, ENST00000617066
RefSeq mRNA: 6 — MANE Select: NM_181333
NM_001017528, NM_001017529, NM_001017530, NM_001198721, NM_015366, NM_181333
CCDS: CCDS14058, CCDS14059, CCDS56232, CCDS74875
Canonical transcript exons
ENST00000336985 — 8 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001591501 | 44702204 | 44702608 |
| ENSE00003465556 | 44726577 | 44726634 |
| ENSE00003551706 | 44736772 | 44737681 |
| ENSE00003568825 | 44725244 | 44725292 |
| ENSE00003614159 | 44714591 | 44714671 |
| ENSE00003642381 | 44731730 | 44731821 |
| ENSE00003658491 | 44732251 | 44732391 |
| ENSE00003692865 | 44735027 | 44735162 |
Expression profiles
Bgee: expression breadth ubiquitous, 240 present calls, max score 93.44.
FANTOM5 (CAGE): breadth broad, TPM avg 4.9542 / max 162.4310, expressed in 847 samples.
FANTOM5 promoters (11 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 192690 | 5.4994 | 1369 |
| 192681 | 1.5677 | 632 |
| 192687 | 1.2263 | 183 |
| 192685 | 0.5736 | 116 |
| 192686 | 0.5070 | 133 |
| 192679 | 0.4583 | 251 |
| 192684 | 0.1604 | 36 |
| 192680 | 0.1464 | 65 |
| 192688 | 0.1269 | 67 |
| 192683 | 0.1113 | 37 |
Top tissues by expression
283 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| spleen | UBERON:0002106 | 93.44 | gold quality |
| adenohypophysis | UBERON:0002196 | 92.93 | gold quality |
| granulocyte | CL:0000094 | 92.75 | gold quality |
| right lobe of liver | UBERON:0001114 | 92.44 | gold quality |
| pituitary gland | UBERON:0000007 | 91.55 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 90.85 | gold quality |
| right uterine tube | UBERON:0001302 | 90.67 | gold quality |
| endocervix | UBERON:0000458 | 89.43 | gold quality |
| blood | UBERON:0000178 | 88.35 | gold quality |
| ectocervix | UBERON:0012249 | 88.06 | gold quality |
| metanephros cortex | UBERON:0010533 | 87.98 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 87.74 | gold quality |
| adipose tissue of abdominal region | UBERON:0007808 | 87.64 | gold quality |
| omental fat pad | UBERON:0010414 | 87.59 | gold quality |
| peritoneum | UBERON:0002358 | 87.50 | gold quality |
| tibia | UBERON:0000979 | 87.19 | gold quality |
| adipose tissue | UBERON:0001013 | 87.12 | gold quality |
| subcutaneous adipose tissue | UBERON:0002190 | 86.90 | gold quality |
| connective tissue | UBERON:0002384 | 86.55 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 86.32 | gold quality |
| cingulate cortex | UBERON:0003027 | 86.20 | gold quality |
| ileal mucosa | UBERON:0000331 | 86.11 | gold quality |
| small intestine | UBERON:0002108 | 86.11 | gold quality |
| putamen | UBERON:0001874 | 85.58 | gold quality |
| vagina | UBERON:0000996 | 84.95 | gold quality |
| caudate nucleus | UBERON:0001873 | 84.93 | gold quality |
| transverse colon | UBERON:0001157 | 84.91 | gold quality |
| adult mammalian kidney | UBERON:0000082 | 84.72 | gold quality |
| nucleus accumbens | UBERON:0001882 | 84.69 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 84.47 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 6.29 |
| E-GEOD-124858 | no | 11.50 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
20 targeting PRR5, 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-548AJ-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-548X-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-548J-3P | 99.94 | 72.61 | 4881 |
| HSA-MIR-6721-5P | 99.93 | 68.92 | 2981 |
| 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-4492 | 99.87 | 68.25 | 3611 |
| HSA-MIR-765 | 99.84 | 68.24 | 2442 |
| HSA-MIR-11181-3P | 99.75 | 66.38 | 2205 |
| HSA-MIR-545-5P | 99.66 | 70.18 | 2308 |
| HSA-MIR-3922-5P | 98.77 | 66.53 | 1059 |
| HSA-MIR-3135B | 98.61 | 65.33 | 1470 |
| HSA-MIR-3138 | 98.41 | 67.53 | 744 |
| HSA-MIR-134-3P | 96.83 | 66.22 | 1001 |
| HSA-MIR-563 | 96.26 | 66.13 | 450 |
| HSA-MIR-380-5P | 95.68 | 67.32 | 512 |
| HSA-MIR-6877-5P | 93.84 | 61.41 | 74 |
| HSA-MIR-6089 | 89.72 | 61.35 | 324 |
Literature-anchored findings (GeneRIF, showing 4)
- mRNA expression analyses revealed PRR5 overexpression in a majority of colorectal tumors but substantial downregulation of PRR5 expression in a subset of breast tumors and reduced expression in two breast cancer cell lines (PMID:15718101)
- It was demonstrated that immunoprecipitation of Protor-1 or Protor-2 results in the co-immunoprecipitation of other mTORC2 subunits, but not Raptor, a specific component of mTORC1. (PMID:17461779)
- The inhibition of Akt and S6K1 phosphorylation by PRR5 knock down correlates with reduction in the expression level of platelet-derived growth factor receptor beta (PDGFRbeta). (PMID:17599906)
- Fusion protein PRR5-ARHGAP8 plays a role in bipolar disorder with binge eating behavior. (PMID:29391396)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | prr5a | ENSDARG00000075977 |
| danio_rerio | prr5b | ENSDARG00000115971 |
| mus_musculus | Prr5 | ENSMUSG00000036106 |
| rattus_norvegicus | Prr5 | ENSRNOG00000076724 |
Paralogs (1): PRR5L (ENSG00000135362)
Protein
Protein identifiers
Proline-rich protein 5 — P85299 (reviewed: P85299)
Alternative names: Protein observed with Rictor-1
All UniProt accessions (7): A8K699, B1AHG3, B1AHG4, P85299, E9PH80, F8WEZ7, G3V0G2
UniProt curated annotations — full annotation on UniProt →
Function. Associated subunit of mTORC2, which regulates cell growth and survival in response to hormonal signals. mTORC2 is activated by growth factors, but, in contrast to mTORC1, seems to be nutrient-insensitive. mTORC2 seems to function upstream of Rho GTPases to regulate the actin cytoskeleton, probably by activating one or more Rho-type guanine nucleotide exchange factors. PRR5 plays an important role in regulation of PDGFRB expression and in modulation of platelet-derived growth factor signaling. May act as a tumor suppressor in breast cancer.
Subunit / interactions. Associated component of the mechanistic target of rapamycin complex 2 (mTORC2). Binds directly to MTOR and RICTOR within the TORC2 complex.
Tissue specificity. Most abundant in kidney and liver. Also highly expressed in brain, spleen, testis and placenta. Overexpressed in several colorectal tumors.
Similarity. Belongs to the PROTOR family.
Isoforms (5)
| UniProt ID | Names | Canonical? |
|---|---|---|
| P85299-1 | 1, alpha | yes |
| P85299-2 | 2 | |
| P85299-3 | 3, beta | |
| P85299-4 | 4, gamma | |
| P85299-5 | 5 |
RefSeq proteins (6): NP_001017528, NP_001017529, NP_001017530, NP_001185650, NP_056181, NP_851850* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR013745 | Bit61/PRR5 | Family |
| IPR016159 | Cullin_repeat-like_dom_sf | Homologous_superfamily |
Pfam: PF08539
UniProt features (15 total): splice variant 5, region of interest 4, compositionally biased region 2, chain 1, sequence variant 1, sequence conflict 1, modified residue 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P85299-F1 | 69.59 | 0.38 |
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 (1): 252
Function
Pathways and Gene Ontology
Reactome pathways
7 pathways
| ID | Pathway |
|---|---|
| R-HSA-1257604 | PIP3 activates AKT signaling |
| R-HSA-389357 | CD28 dependent PI3K/Akt signaling |
| R-HSA-5218920 | VEGFR2 mediated vascular permeability |
| R-HSA-5674400 | Constitutive Signaling by AKT1 E17K in Cancer |
| R-HSA-6804757 | Regulation of TP53 Degradation |
| R-HSA-9856530 | High laminar flow shear stress activates signaling by PIEZO1 and PECAM1:CDH5:KDR in endothelial cells |
| R-HSA-9920951 | Dengue virus modulates apoptosis |
MSigDB gene sets: 170 (showing top):
REACTOME_ADAPTIVE_IMMUNE_SYSTEM, GOBP_GROWTH, REACTOME_CO_STIMULATION_BY_CD28, PID_MTOR_4PATHWAY, KOYAMA_SEMA3B_TARGETS_UP, GOBP_POSITIVE_REGULATION_OF_CELL_GROWTH, GOBP_PHOSPHATIDYLINOSITOL_3_KINASE_PROTEIN_KINASE_B_SIGNAL_TRANSDUCTION, REACTOME_CD28_DEPENDENT_PI3K_AKT_SIGNALING, GOBP_POSITIVE_REGULATION_OF_GROWTH, GOBP_POSITIVE_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION, DODD_NASOPHARYNGEAL_CARCINOMA_UP, GOBP_POSITIVE_REGULATION_OF_PHOSPHATIDYLINOSITOL_3_KINASE_PROTEIN_KINASE_B_SIGNAL_TRANSDUCTION, GOBP_TOR_SIGNALING, BURTON_ADIPOGENESIS_2, BURTON_ADIPOGENESIS_PEAK_AT_8HR
GO Biological Process (7): cytoskeleton organization (GO:0007010), positive regulation of cell growth (GO:0030307), cellular response to nutrient levels (GO:0031669), TORC2 signaling (GO:0038203), negative regulation of apoptotic process (GO:0043066), phosphatidylinositol 3-kinase/protein kinase B signal transduction (GO:0043491), positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction (GO:0051897)
GO Molecular Function (1): protein binding (GO:0005515)
GO Cellular Component (2): cytosol (GO:0005829), TORC2 complex (GO:0031932)
Reactome top-level categories
Rollup of top-7 pathways:
| Category | Pathways |
|---|---|
| Intracellular signaling by second messengers | 1 |
| Co-stimulation by CD28 | 1 |
| VEGFA-VEGFR2 Pathway | 1 |
| PI3K/AKT Signaling in Cancer | 1 |
| Regulation of TP53 Expression and Degradation | 1 |
| Response of endothelial cells to shear stress | 1 |
| Dengue Virus-Host Interactions | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| organelle organization | 1 |
| regulation of cell growth | 1 |
| cell growth | 1 |
| positive regulation of growth | 1 |
| positive regulation of cellular process | 1 |
| response to nutrient levels | 1 |
| cellular response to stimulus | 1 |
| TOR signaling | 1 |
| apoptotic process | 1 |
| regulation of apoptotic process | 1 |
| negative regulation of programmed cell death | 1 |
| intracellular signaling cassette | 1 |
| phosphatidylinositol 3-kinase/protein kinase B signal transduction | 1 |
| regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction | 1 |
| positive regulation of intracellular signal transduction | 1 |
| binding | 1 |
| cytoplasm | 1 |
| cellular anatomical structure | 1 |
| TOR complex | 1 |
Protein interactions and networks
STRING
562 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| PRR5 | MAPKAP1 | Q9BPZ7 | 999 |
| PRR5 | RICTOR | Q6R327 | 999 |
| PRR5 | DEPTOR | Q8TB45 | 998 |
| PRR5 | MLST8 | Q9BVC4 | 998 |
| PRR5 | MTOR | P42345 | 997 |
| PRR5 | TTI1 | O43156 | 992 |
| PRR5 | PRR5L | Q6MZQ0 | 917 |
| PRR5 | ARHGAP8 | P85298 | 914 |
| PRR5 | RPTOR | Q8N122 | 863 |
| PRR5 | AKT1S1 | Q96B36 | 863 |
| PRR5 | SGK1 | O00141 | 769 |
| PRR5 | INPP5J | Q15735 | 716 |
| PRR5 | BNIP2 | Q12982 | 678 |
| PRR5 | PRR7 | Q8TB68 | 671 |
| PRR5 | PRR9 | Q5T870 | 665 |
IntAct
38 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| RICTOR | MTOR | psi-mi:“MI:0914”(association) | 0.970 |
| MAPKAP1 | MTOR | psi-mi:“MI:0914”(association) | 0.860 |
| WDR5 | MEN1 | psi-mi:“MI:0914”(association) | 0.710 |
| PRR5 | YWHAH | psi-mi:“MI:0915”(physical association) | 0.650 |
| YWHAG | BLTP3B | psi-mi:“MI:2364”(proximity) | 0.640 |
| PRR5 | DLG1 | psi-mi:“MI:0915”(physical association) | 0.610 |
| DLG1 | PRR5 | psi-mi:“MI:0407”(direct interaction) | 0.610 |
| YWHAH | PLEKHG3 | psi-mi:“MI:0914”(association) | 0.610 |
| YWHAE | RGS12 | psi-mi:“MI:0914”(association) | 0.610 |
| YWHAB | BLTP3B | psi-mi:“MI:2364”(proximity) | 0.610 |
| YWHAH | BLTP3B | psi-mi:“MI:2364”(proximity) | 0.570 |
| YWHAE | SRSF10 | psi-mi:“MI:0914”(association) | 0.560 |
| YWHAQ | IGLC7 | psi-mi:“MI:0914”(association) | 0.530 |
| YWHAB | PLEKHG3 | psi-mi:“MI:0914”(association) | 0.480 |
| RICTOR | HSPA1A | psi-mi:“MI:0914”(association) | 0.460 |
| RICTOR | WIZ | psi-mi:“MI:0914”(association) | 0.350 |
| PRR5 | MTOR | psi-mi:“MI:0914”(association) | 0.350 |
| MTOR | PRR5 | psi-mi:“MI:0914”(association) | 0.350 |
| YWHAB | PLEKHG3 | psi-mi:“MI:0914”(association) | 0.350 |
| YWHAG | C1orf226 | psi-mi:“MI:0914”(association) | 0.350 |
| YWHAB | FOXO6 | psi-mi:“MI:0914”(association) | 0.350 |
| YWHAG | FOXO6 | psi-mi:“MI:0914”(association) | 0.350 |
| YWHAQ | FOXO6 | psi-mi:“MI:0914”(association) | 0.350 |
| GIMAP1 | PRR5 | psi-mi:“MI:0914”(association) | 0.350 |
| CIR1 | IGLL5 | psi-mi:“MI:0914”(association) | 0.350 |
| PRR5 | HNRNPCL1 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (56): PRR5 (Affinity Capture-RNA), PRR5 (Affinity Capture-MS), PRR5 (Affinity Capture-MS), PRR5 (Two-hybrid), PRR5 (Two-hybrid), PRR5 (Two-hybrid), PRR5 (Two-hybrid), GPSM3 (Two-hybrid), PRR5 (Affinity Capture-MS), PRR5 (Proximity Label-MS), PRR5 (Proximity Label-MS), PRR5 (Proximity Label-MS), PRR5 (Proximity Label-MS), YWHAH (Affinity Capture-MS), PRR5 (Affinity Capture-MS)
ESM2 similar proteins: A0A088MLT8, A2AQ25, B3KU38, B5DF41, E9PSK7, O15079, O35274, P0DPB3, P0DPB4, P12755, P49140, P85299, Q0D2I5, Q14DQ1, Q1LY51, Q3B7M3, Q3SYW5, Q4KMA0, Q4R3X1, Q50H33, Q5F3L9, Q5FVG6, Q5RD40, Q5XKK7, Q60698, Q6ZNC4, Q6ZUS6, Q6ZWB6, Q80U23, Q80U62, Q80XA6, Q812A5, Q86YI8, Q8BXL9, Q8K2W6, Q8ND83, Q8NFH8, Q8QFX1, Q8TEK3, Q924W7
Diamond homologs: A1L1K1, A2AVJ5, P85299, Q5E9R0, Q5FVG6, Q6MZQ0, Q812A5, Q8AVJ1
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| PRR5 | “form complex” | mTORC2 | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 29 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 | 240.4× | 4e-12 |
| Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex | 6 | 212.1× | 5e-12 |
| SARS-CoV-1 targets host intracellular signalling and regulatory pathways | 6 | 212.1× | 5e-12 |
| Activation of BH3-only proteins | 6 | 156.8× | 3e-11 |
| RHO GTPases activate PKNs | 6 | 100.2× | 5e-10 |
| Intrinsic Pathway for Apoptosis | 6 | 92.5× | 7e-10 |
| SARS-CoV-1-host interactions | 6 | 55.5× | 1e-08 |
| Apoptosis | 6 | 53.0× | 1e-08 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| intracellular protein localization | 6 | 27.3× | 2e-05 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
80 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 71 |
| Likely benign | 5 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2422 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 22:44702609:G:GA | donor_loss | 1.0000 |
| 22:44702610:T:G | donor_loss | 1.0000 |
| 22:44714582:T:TA | acceptor_gain | 1.0000 |
| 22:44714586:CCCAG:C | acceptor_loss | 1.0000 |
| 22:44714587:CCAGC:C | acceptor_loss | 1.0000 |
| 22:44714588:CAGCA:C | acceptor_loss | 1.0000 |
| 22:44714589:A:AG | acceptor_gain | 1.0000 |
| 22:44714589:AGCAT:A | acceptor_loss | 1.0000 |
| 22:44714590:G:A | acceptor_loss | 1.0000 |
| 22:44714590:G:GC | acceptor_gain | 1.0000 |
| 22:44714590:G:GG | acceptor_gain | 1.0000 |
| 22:44714590:GC:G | acceptor_gain | 1.0000 |
| 22:44714590:GCA:G | acceptor_gain | 1.0000 |
| 22:44714590:GCAT:G | acceptor_gain | 1.0000 |
| 22:44714590:GCATC:G | acceptor_gain | 1.0000 |
| 22:44714667:GTCCG:G | donor_gain | 1.0000 |
| 22:44714668:TCCGG:T | donor_loss | 1.0000 |
| 22:44714669:CCGG:C | donor_loss | 1.0000 |
| 22:44714670:CGG:C | donor_loss | 1.0000 |
| 22:44714672:G:A | donor_loss | 1.0000 |
| 22:44714672:G:GG | donor_gain | 1.0000 |
| 22:44714673:T:A | donor_loss | 1.0000 |
| 22:44714673:T:G | donor_loss | 1.0000 |
| 22:44714674:GAGT:G | donor_loss | 1.0000 |
| 22:44726575:A:AG | acceptor_gain | 1.0000 |
| 22:44726576:G:GA | acceptor_gain | 1.0000 |
| 22:44726631:GAGG:G | donor_gain | 1.0000 |
| 22:44726633:GG:G | donor_gain | 1.0000 |
| 22:44726634:GG:G | donor_gain | 1.0000 |
| 22:44726635:GTGA:G | donor_loss | 1.0000 |
AlphaMissense
2502 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 22:44731762:T:A | W119R | 1.000 |
| 22:44731762:T:C | W119R | 1.000 |
| 22:44702601:T:A | W43R | 0.999 |
| 22:44702601:T:C | W43R | 0.999 |
| 22:44714593:T:A | I46N | 0.999 |
| 22:44714616:T:C | F54L | 0.999 |
| 22:44714617:T:C | F54S | 0.999 |
| 22:44714618:C:A | F54L | 0.999 |
| 22:44714618:C:G | F54L | 0.999 |
| 22:44725249:T:C | L74P | 0.999 |
| 22:44725288:T:C | L87P | 0.999 |
| 22:44726595:G:C | G95R | 0.999 |
| 22:44726596:G:A | G95D | 0.999 |
| 22:44731764:G:C | W119C | 0.999 |
| 22:44731764:G:T | W119C | 0.999 |
| 22:44731796:T:C | L130P | 0.999 |
| 22:44732291:T:C | F152S | 0.999 |
| 22:44702603:G:C | W43C | 0.998 |
| 22:44702603:G:T | W43C | 0.998 |
| 22:44714593:T:G | I46S | 0.998 |
| 22:44714668:T:A | V71D | 0.998 |
| 22:44714671:G:C | R72P | 0.998 |
| 22:44726608:T:C | L99P | 0.998 |
| 22:44731751:T:C | L115P | 0.998 |
| 22:44732282:T:C | L149P | 0.998 |
| 22:44732290:T:C | F152L | 0.998 |
| 22:44732292:C:A | F152L | 0.998 |
| 22:44732292:C:G | F152L | 0.998 |
| 22:44732294:G:C | R153P | 0.998 |
| 22:44732378:T:C | L181P | 0.998 |
dbSNP variants (sampled 300 via entrez): RS1000069395 (22:44736733 G>T), RS1000073712 (22:44710389 C>G), RS1000119494 (22:44679896 G>A,T), RS1000120407 (22:44678036 GTGC>G), RS1000123701 (22:44730111 C>T), RS1000132849 (22:44669353 C>T), RS1000138845 (22:44709640 T>A), RS1000172126 (22:44679654 C>G,T), RS1000212445 (22:44723960 A>G), RS1000216762 (22:44712551 A>T), RS1000246495 (22:44674382 C>A,G,T), RS1000252404 (22:44674188 T>C,G), RS1000312760 (22:44717381 G>A), RS1000342210 (22:44717189 C>G,T), RS1000383720 (22:44684495 C>G,T)
Disease associations
OMIM: gene MIM:609406 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
3 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001503_4 | Electroencephalographic traits in alcoholism | 3.000000e-06 |
| GCST002420_1 | Binge eating behaviour in bipolar disorder | 9.000000e-07 |
| GCST005387_1 | Binge eating behaviour in bipolar disorder | 3.000000e-08 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004800 | frontal theta oscillation measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
29 total (human), top 29 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Benzo(a)pyrene | affects methylation, increases methylation | 2 |
| Valproic Acid | increases expression, increases methylation | 2 |
| Aflatoxin B1 | affects methylation, increases methylation | 2 |
| Cadmium Chloride | decreases expression | 2 |
| FR900359 | decreases phosphorylation | 1 |
| beta-lapachone | increases expression | 1 |
| sodium arsenite | decreases expression | 1 |
| benzo(e)pyrene | affects methylation | 1 |
| aflatoxin B2 | affects methylation | 1 |
| coumarin | increases phosphorylation | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| abrine | decreases expression | 1 |
| 2-(1H-indazol-4-yl)-6-(4-methanesulfonylpiperazin-1-ylmethyl)-4-morpholin-4-ylthieno(3,2-d)pyrimidine | decreases expression, increases response to substance | 1 |
| bisphenol S | decreases methylation | 1 |
| jinfukang | affects cotreatment, increases expression | 1 |
| NSC 689534 | affects binding, decreases expression | 1 |
| Caffeine | affects phosphorylation | 1 |
| Cisplatin | affects cotreatment, increases expression | 1 |
| Copper | affects binding, decreases expression | 1 |
| Estradiol | increases expression | 1 |
| Methapyrilene | affects methylation | 1 |
| Phthalic Acids | increases methylation | 1 |
| Smoke | decreases expression | 1 |
| Dihydrotestosterone | increases expression | 1 |
| Tobacco Smoke Pollution | increases expression | 1 |
| Antirheumatic Agents | increases expression | 1 |
| Acrylamide | decreases expression | 1 |
| Particulate Matter | increases expression | 1 |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): binge eating disorder