PPP1R11
gene geneOn this page
Also known as HCGVTctex5HCG-VCFAP255
Summary
PPP1R11 (protein phosphatase 1 regulatory inhibitor subunit 11, HGNC:9285) is a protein-coding gene on chromosome 6p22.1, encoding E3 ubiquitin-protein ligase PPP1R11 (O60927). Atypical E3 ubiquitin-protein ligase which ubiquitinates TLR2 at ‘Lys-754’ leading to its degradation by the proteasome. It is a common-essential gene (DepMap: required in 92.1% of cancer cell lines).
This gene encodes a specific inhibitor of protein phosphatase-1 (PP1) with a differential sensitivity toward the metal-independent and metal-dependent forms of PP1. The gene is located within the major histocompatibility complex class I region on chromosome 6.
Source: NCBI Gene 6992 — RefSeq curated summary.
At a glance
- GWAS associations: 25
- Clinical variants (ClinVar): 17 total — 1 pathogenic
- Cancer dependency (DepMap): dependent in 92.1% of screened cell lines (common-essential)
- MANE Select transcript:
NM_021959
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:9285 |
| Approved symbol | PPP1R11 |
| Name | protein phosphatase 1 regulatory inhibitor subunit 11 |
| Location | 6p22.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | HCGV, Tctex5, HCG-V, CFAP255 |
| Ensembl gene | ENSG00000204619 |
| Ensembl biotype | protein_coding |
| OMIM | 606670 |
| Entrez | 6992 |
Gene structure
Transcript identifiers
Ensembl transcripts: 6 — 6 protein_coding
ENST00000376758, ENST00000376763, ENST00000376765, ENST00000376769, ENST00000376772, ENST00000376773
RefSeq mRNA: 1 — MANE Select: NM_021959
NM_021959
CCDS: CCDS4671
Canonical transcript exons
ENST00000376772 — 3 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001665776 | 30069104 | 30070333 |
| ENSE00001909114 | 30067198 | 30067479 |
| ENSE00003626514 | 30068590 | 30068698 |
Expression profiles
Bgee: expression breadth ubiquitous, 133 present calls, max score 96.19.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 31.8231 / max 172.2434, expressed in 1817 samples.
FANTOM5 promoters (5 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 66697 | 30.1587 | 1817 |
| 66698 | 0.8207 | 547 |
| 66696 | 0.4012 | 174 |
| 66699 | 0.2311 | 78 |
| 66700 | 0.2114 | 73 |
Top tissues by expression
134 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| rectum | UBERON:0001052 | 96.19 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 96.02 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 95.92 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 95.86 | gold quality |
| granulocyte | CL:0000094 | 95.84 | gold quality |
| duodenum | UBERON:0002114 | 95.77 | gold quality |
| blood | UBERON:0000178 | 95.67 | gold quality |
| colonic epithelium | UBERON:0000397 | 95.53 | gold quality |
| primary visual cortex | UBERON:0002436 | 95.51 | gold quality |
| body of stomach | UBERON:0001161 | 95.27 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 95.25 | gold quality |
| cortical plate | UBERON:0005343 | 95.21 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 95.19 | gold quality |
| gall bladder | UBERON:0002110 | 95.12 | gold quality |
| hypothalamus | UBERON:0001898 | 95.10 | gold quality |
| lower esophagus | UBERON:0013473 | 95.06 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 95.06 | gold quality |
| leukocyte | CL:0000738 | 95.00 | gold quality |
| transverse colon | UBERON:0001157 | 94.98 | gold quality |
| fundus of stomach | UBERON:0001160 | 94.94 | gold quality |
| popliteal artery | UBERON:0002250 | 94.93 | gold quality |
| tibial artery | UBERON:0007610 | 94.93 | gold quality |
| right frontal lobe | UBERON:0002810 | 94.91 | gold quality |
| monocyte | CL:0000576 | 94.88 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 94.87 | gold quality |
| vermiform appendix | UBERON:0001154 | 94.80 | gold quality |
| nucleus accumbens | UBERON:0001882 | 94.80 | gold quality |
| amygdala | UBERON:0001876 | 94.76 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 94.75 | gold quality |
| temporal lobe | UBERON:0001871 | 94.73 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 8.12 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
115 targeting PPP1R11, 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-4692 | 100.00 | 67.32 | 2066 |
| HSA-MIR-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-4455 | 100.00 | 65.48 | 1587 |
| HSA-MIR-6758-5P | 100.00 | 66.21 | 1470 |
| HSA-MIR-4747-5P | 100.00 | 67.90 | 2681 |
| HSA-MIR-5196-5P | 100.00 | 67.98 | 2761 |
| HSA-MIR-34A-5P | 99.99 | 71.21 | 1784 |
| HSA-MIR-449A | 99.99 | 71.05 | 1776 |
| HSA-MIR-4514 | 99.99 | 67.10 | 1870 |
| HSA-MIR-34C-5P | 99.97 | 70.45 | 1577 |
| HSA-MIR-449B-5P | 99.97 | 70.26 | 1580 |
| HSA-MIR-146A-5P | 99.96 | 68.93 | 988 |
| HSA-MIR-146B-5P | 99.96 | 69.13 | 977 |
| HSA-MIR-96-5P | 99.95 | 72.80 | 2140 |
| HSA-MIR-7153-5P | 99.94 | 68.89 | 1006 |
| HSA-MIR-497-5P | 99.92 | 71.83 | 2674 |
| HSA-MIR-12133 | 99.92 | 71.82 | 2006 |
| HSA-MIR-1271-5P | 99.91 | 71.99 | 1972 |
| HSA-MIR-15A-5P | 99.90 | 72.80 | 2787 |
| HSA-MIR-15B-5P | 99.90 | 72.78 | 2798 |
| HSA-MIR-16-5P | 99.90 | 72.80 | 2780 |
| HSA-MIR-195-5P | 99.90 | 72.81 | 2805 |
| HSA-MIR-3686 | 99.90 | 70.53 | 2432 |
| HSA-MIR-424-5P | 99.89 | 71.90 | 2641 |
| HSA-MIR-6838-5P | 99.89 | 71.94 | 2690 |
| HSA-MIR-95-5P | 99.89 | 72.17 | 3973 |
| HSA-MIR-6780A-5P | 99.88 | 66.69 | 2776 |
| HSA-MIR-182-5P | 99.87 | 74.03 | 2589 |
| HSA-MIR-4492 | 99.87 | 68.25 | 3611 |
| HSA-MIR-221-5P | 99.86 | 65.45 | 1052 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 92.1% of screened cell lines, common-essential.
Literature-anchored findings (GeneRIF, showing 5)
- Sds22 and Inhibitor-3 form a heterotrimeric complex with PP1, both in cell lysates and after purification. A pool of PP1 is complexly controlled by both Sds22 and Inhibitor-3. (PMID:17630778)
- inhibitor-3 is an in vivo target of caspase-3 and participates in the apoptotic response (PMID:18450750)
- Inh3 has two domains that are required for its interaction with PP1. (PMID:18951879)
- a model in which I3 regulates an SDS22-mediated PP1 activation step in solution that precedes SDS22 dissociation and transfer of PP1 to kinetochores, and which is required for PP1 to efficiently antagonize Aurora B. (PMID:25298395)
- Lentiviral gene transfer or knockdown of PPP1R11 in mouse lungs significantly affects lung inflammation and the clearance of Staphylococcus aureus. There is a negative correlation between PPP1R11 and TLR2 levels in white blood cell samples isolated from patients with Staphylococcus aureus infections (PMID:27805901)
Cross-species orthologs
6 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | ppp1r11 | ENSDARG00000036063 |
| mus_musculus | Ppp1r11 | ENSMUSG00000036398 |
| rattus_norvegicus | Ppp1r11 | ENSRNOG00000082306 |
| drosophila_melanogaster | CG13994 | FBGN0031772 |
| drosophila_melanogaster | I-3 | FBGN0261624 |
| caenorhabditis_elegans | WBGENE00015579 |
Protein
Protein identifiers
E3 ubiquitin-protein ligase PPP1R11 — O60927 (reviewed: O60927)
Alternative names: Hemochromatosis candidate gene V protein, Protein phosphatase 1 regulatory subunit 11, Protein phosphatase inhibitor 3
All UniProt accessions (3): O60927, A2BEK1, Q5SRK2
UniProt curated annotations — full annotation on UniProt →
Function. Atypical E3 ubiquitin-protein ligase which ubiquitinates TLR2 at ‘Lys-754’ leading to its degradation by the proteasome. Plays a role in regulating inflammatory cytokine release and gram-positive bacterial clearance by functioning, in part, through the ubiquitination and degradation of TLR2. Inhibitor of protein phosphatase 1.
Subunit / interactions. Interacts with TLR2 and UBE2D2.
Tissue specificity. Widely expressed.
Post-translational modifications. Auto-ubiquitinated.
Pathway. Protein modification; protein ubiquitination.
RefSeq proteins (1): NP_068778* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR011107 | PPI_Ypi1 | Family |
Pfam: PF07491
UniProt features (23 total): modified residue 6, mutagenesis site 6, region of interest 4, compositionally biased region 3, initiator methionine 1, chain 1, turn 1, strand 1
Structure
Experimental structures (PDB)
3 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 8DWL | X-RAY DIFFRACTION | 2 |
| 8DWK | X-RAY DIFFRACTION | 2.5 |
| 8U5G | X-RAY DIFFRACTION | 3.2 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-O60927-F1 | 66.52 | 0.00 |
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 (6): 73, 74, 75, 77, 109, 2
Mutagenesis-validated functional residues (6):
| Position | Phenotype |
|---|---|
| 52 | loss of function in inducing tlr2 degradation. |
| 60–62 | loss of function in inducing tlr2 degradation. |
| 85 | loss of function in inducing tlr2 degradation. |
| 87 | loss of function in inducing tlr2 degradation. |
| 89–90 | loss of function in inducing tlr2 degradation. |
| 94 | loss of function in inducing tlr2 degradation. |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 215 (showing top):
TGCTGCT_MIR15A_MIR16_MIR15B_MIR195_MIR424_MIR497, ENK_UV_RESPONSE_KERATINOCYTE_UP, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, GOBP_NEGATIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS, GOBP_CYTOKINE_PRODUCTION, MODULE_480, GOBP_POST_TRANSLATIONAL_PROTEIN_MODIFICATION, GOBP_DEFENSE_RESPONSE_TO_GRAM_POSITIVE_BACTERIUM, MODULE_226, GOBP_DEFENSE_RESPONSE_TO_BACTERIUM, GOBP_NEGATIVE_REGULATION_OF_CYTOKINE_PRODUCTION, CAGCCTC_MIR4855P, IVANOVA_HEMATOPOIESIS_EARLY_PROGENITOR, GOBP_PROTEIN_CATABOLIC_PROCESS, SCHLOSSER_SERUM_RESPONSE_UP
GO Biological Process (4): negative regulation of cytokine production (GO:0001818), ubiquitin-dependent protein catabolic process (GO:0006511), protein ubiquitination (GO:0016567), defense response to Gram-positive bacterium (GO:0050830)
GO Molecular Function (7): protein phosphatase inhibitor activity (GO:0004864), protein serine/threonine phosphatase inhibitor activity (GO:0004865), protein phosphatase 1 binding (GO:0008157), phosphatase binding (GO:0019902), ubiquitin protein ligase activity (GO:0061630), protein binding (GO:0005515), transferase activity (GO:0016740)
GO Cellular Component (2): nucleus (GO:0005634), cytoplasm (GO:0005737)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cytokine production | 1 |
| regulation of cytokine production | 1 |
| negative regulation of gene expression | 1 |
| negative regulation of multicellular organismal process | 1 |
| protein ubiquitination | 1 |
| modification-dependent protein catabolic process | 1 |
| protein modification by small protein conjugation | 1 |
| defense response to bacterium | 1 |
| phosphoprotein phosphatase activity | 1 |
| phosphatase inhibitor activity | 1 |
| protein phosphatase regulator activity | 1 |
| protein serine/threonine phosphatase activity | 1 |
| protein phosphatase inhibitor activity | 1 |
| protein phosphatase binding | 1 |
| enzyme binding | 1 |
| ubiquitin-protein transferase activity | 1 |
| ubiquitin-like protein ligase activity | 1 |
| binding | 1 |
| catalytic activity | 1 |
| intracellular membrane-bounded organelle | 1 |
| intracellular anatomical structure | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
1160 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| PPP1R11 | HLA-A | P01891 | 718 |
| PPP1R11 | PPP1R7 | Q15435 | 717 |
| PPP1R11 | TRIM26 | Q12899 | 692 |
| PPP1R11 | TRIM10 | Q9UDY6 | 591 |
| PPP1R11 | POLR1H | Q9P1U0 | 567 |
| PPP1R11 | PPP1R2 | P41236 | 556 |
| PPP1R11 | PPP1R2B | Q6NXS1 | 554 |
| PPP1R11 | MRPL39 | Q9NYK5 | 532 |
| PPP1R11 | GNL1 | P36915 | 532 |
| PPP1R11 | PRR3 | P79522 | 522 |
| PPP1R11 | TRIM39 | Q9HCM9 | 521 |
| PPP1R11 | MTG1 | Q9BT17 | 520 |
| PPP1R11 | PPP1R8 | Q12972 | 507 |
| PPP1R11 | PPP1CB | P37140 | 505 |
| PPP1R11 | PPP1CC | P36873 | 481 |
IntAct
67 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| PPP1R11 | PPP1CB | psi-mi:“MI:0915”(physical association) | 0.920 |
| PPP1R11 | PPP1CC | psi-mi:“MI:0915”(physical association) | 0.850 |
| PPP1CB | CCDC85C | psi-mi:“MI:0914”(association) | 0.750 |
| PPP1CB | CCDC85C | psi-mi:“MI:2364”(proximity) | 0.750 |
| PPP1CC | CCDC85C | psi-mi:“MI:0914”(association) | 0.740 |
| PPP1CC | CCDC85C | psi-mi:“MI:2364”(proximity) | 0.740 |
| PPP1CA | CCDC85C | psi-mi:“MI:0914”(association) | 0.670 |
| PPP1CA | CCDC85C | psi-mi:“MI:2364”(proximity) | 0.670 |
| PPP1R11 | YAF2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| PPP1R11 | IFT20 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CASP6 | PPP1R11 | psi-mi:“MI:0915”(physical association) | 0.560 |
| PPP1R11 | FGFR3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| LAMP2 | PPP1R11 | psi-mi:“MI:0915”(physical association) | 0.560 |
| RAN | PPP1R11 | psi-mi:“MI:0915”(physical association) | 0.560 |
| PPP1R11 | OPTN | psi-mi:“MI:0915”(physical association) | 0.560 |
| PPP1R11 | CLSTN1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| UBQLN1 | PPP1R11 | psi-mi:“MI:0915”(physical association) | 0.560 |
BioGRID (63): PPP1R11 (Affinity Capture-MS), PPP1R11 (Affinity Capture-MS), PPP1R11 (Affinity Capture-MS), PPP1R11 (Affinity Capture-MS), DUT (Co-fractionation), PPP1CB (Co-fractionation), PPP1R11 (Co-fractionation), PPP1R11 (Co-fractionation), PPP1R11 (Co-fractionation), PPP1R11 (Affinity Capture-MS), PPP1R11 (Affinity Capture-MS), PPP1R11 (Affinity Capture-MS), PPP1R11 (Affinity Capture-MS), PPP1R11 (Affinity Capture-MS), PPP1R11 (Affinity Capture-MS)
ESM2 similar proteins: A0A098DPY0, A1CQN6, A2QPT2, A3GGT2, A3GGV1, A4HWF0, A4RD36, A5DNZ1, A5E203, A7A241, A7EXU7, A8P353, B0DX25, B0XPZ9, F5HI87, O60927, P04370, P13200, P14379, P43587, P63248, P63249, Q06428, Q07852, Q0USF2, Q1DR50, Q2GNY7, Q2UPG7, Q568K2, Q59ZU1, Q5I135, Q5TM51, Q66648, Q6BSZ8, Q6C0K1, Q6CNA0, Q6DDH0, Q6FUM5, Q6GLB0, Q6MFY6
Diamond homologs: A1CQN6, A2QPT2, A3GGT2, A3GGV1, A4RD36, A5DNZ1, A5E203, A7A241, A7EXU7, A7TSJ7, A8P353, B0DX25, B0XPZ9, O14218, O60927, P43587, Q0USF2, Q1DR50, Q2GNY7, Q2UPG7, Q568K2, Q59ZU1, Q59ZW4, Q5TM51, Q6BSZ8, Q6C0K1, Q6CNA0, Q6DDH0, Q6FUM5, Q6GLB0, Q6MFY6, Q750F0, Q7YR30, Q8K1L5, Q9P6B0, Q09384, A7TJT3
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
17 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 1 |
| Likely pathogenic | 0 |
| Uncertain significance | 10 |
| Likely benign | 2 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 150044 | GRCh38/hg38 6p25.2-21.33(chr6:3224310-30657190)x3 | Pathogenic |
SpliceAI
621 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 6:30067175:G:T | donor_gain | 1.0000 |
| 6:30067192:G:GG | donor_gain | 1.0000 |
| 6:30067208:G:GT | donor_gain | 1.0000 |
| 6:30067222:G:GT | donor_gain | 1.0000 |
| 6:30067222:G:T | donor_gain | 1.0000 |
| 6:30067476:GCCC:G | donor_gain | 1.0000 |
| 6:30068588:A:AG | acceptor_gain | 1.0000 |
| 6:30068589:G:GA | acceptor_gain | 1.0000 |
| 6:30068589:GGA:G | acceptor_gain | 1.0000 |
| 6:30068589:GGAGA:G | acceptor_gain | 1.0000 |
| 6:30068694:CAAAT:C | donor_gain | 1.0000 |
| 6:30068695:AAAT:A | donor_gain | 1.0000 |
| 6:30068696:AAT:A | donor_gain | 1.0000 |
| 6:30068697:AT:A | donor_gain | 1.0000 |
| 6:30068699:G:GA | donor_loss | 1.0000 |
| 6:30068699:G:GG | donor_gain | 1.0000 |
| 6:30068700:T:G | donor_loss | 1.0000 |
| 6:30068703:G:GG | donor_gain | 1.0000 |
| 6:30069100:CTAG:C | acceptor_loss | 1.0000 |
| 6:30069101:TA:T | acceptor_loss | 1.0000 |
| 6:30069102:AGGC:A | acceptor_loss | 1.0000 |
| 6:30069103:GGCT:G | acceptor_gain | 1.0000 |
| 6:30067170:G:GT | donor_gain | 0.9900 |
| 6:30067182:G:GT | donor_gain | 0.9900 |
| 6:30067215:C:T | donor_gain | 0.9900 |
| 6:30067225:GTGGG:G | donor_gain | 0.9900 |
| 6:30067363:G:GT | donor_gain | 0.9900 |
| 6:30067480:G:GG | donor_gain | 0.9900 |
| 6:30068584:TTCTA:T | acceptor_loss | 0.9900 |
| 6:30068585:TCTA:T | acceptor_loss | 0.9900 |
AlphaMissense
814 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 6:30068615:T:A | L32H | 1.000 |
| 6:30068647:T:A | W43R | 1.000 |
| 6:30068647:T:C | W43R | 1.000 |
| 6:30068648:G:C | W43S | 1.000 |
| 6:30068648:G:T | W43L | 1.000 |
| 6:30068649:G:C | W43C | 1.000 |
| 6:30068649:G:T | W43C | 1.000 |
| 6:30068670:T:A | N50K | 1.000 |
| 6:30068670:T:G | N50K | 1.000 |
| 6:30068693:C:T | S58F | 1.000 |
| 6:30069106:T:A | C61S | 1.000 |
| 6:30069106:T:C | C61R | 1.000 |
| 6:30069107:G:A | C61Y | 1.000 |
| 6:30069107:G:C | C61S | 1.000 |
| 6:30069109:T:C | C62R | 1.000 |
| 6:30069115:T:G | Y64D | 1.000 |
| 6:30068609:T:A | I30N | 0.999 |
| 6:30068609:T:C | I30T | 0.999 |
| 6:30068615:T:C | L32P | 0.999 |
| 6:30068642:T:A | V41E | 0.999 |
| 6:30068665:G:C | D49H | 0.999 |
| 6:30068666:A:T | D49V | 0.999 |
| 6:30068668:A:G | N50D | 0.999 |
| 6:30068669:A:T | N50I | 0.999 |
| 6:30068671:G:A | E51K | 0.999 |
| 6:30068672:A:T | E51V | 0.999 |
| 6:30068673:A:C | E51D | 0.999 |
| 6:30068673:A:T | E51D | 0.999 |
| 6:30068683:C:A | R55S | 0.999 |
| 6:30068692:T:C | S58P | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000019458 (6:30068001 T>A), RS1000037913 (6:30065626 A>C), RS1000494152 (6:30066008 C>G,T), RS1000509720 (6:30067148 CTTTGACGCATTTGGTGCCGTGGAAGGGAAAAAGGGGGACTGCAGTA>C), RS1002141658 (6:30059986 G>A), RS1002410977 (6:30065515 A>C), RS1002460014 (6:30065948 G>T), RS1003323055 (6:30063259 A>G), RS1003387282 (6:30070680 A>G), RS1003414227 (6:30063764 G>A), RS1003930310 (6:30061134 T>A,C), RS1004942849 (6:30067185 G>GA), RS1005603451 (6:30063724 C>T), RS1006113721 (6:30064933 C>G), RS1006602894 (6:30062670 C>G)
Disease associations
OMIM: gene MIM:606670 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
25 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001392_18 | Lipid metabolism phenotypes | 3.000000e-29 |
| GCST002324_6 | Anger | 8.000000e-07 |
| GCST004521_12 | Autism spectrum disorder or schizophrenia | 2.000000e-12 |
| GCST004521_121 | Autism spectrum disorder or schizophrenia | 3.000000e-13 |
| GCST004521_171 | Autism spectrum disorder or schizophrenia | 4.000000e-14 |
| GCST004521_177 | Autism spectrum disorder or schizophrenia | 3.000000e-12 |
| GCST004521_2 | Autism spectrum disorder or schizophrenia | 2.000000e-16 |
| GCST004521_210 | Autism spectrum disorder or schizophrenia | 5.000000e-15 |
| GCST004521_216 | Autism spectrum disorder or schizophrenia | 5.000000e-13 |
| GCST004521_218 | Autism spectrum disorder or schizophrenia | 5.000000e-11 |
| GCST004521_247 | Autism spectrum disorder or schizophrenia | 4.000000e-09 |
| GCST004521_263 | Autism spectrum disorder or schizophrenia | 7.000000e-17 |
| GCST004521_268 | Autism spectrum disorder or schizophrenia | 7.000000e-12 |
| GCST004521_269 | Autism spectrum disorder or schizophrenia | 7.000000e-11 |
| GCST004521_295 | Autism spectrum disorder or schizophrenia | 6.000000e-18 |
| GCST004521_3 | Autism spectrum disorder or schizophrenia | 2.000000e-15 |
| GCST004521_44 | Autism spectrum disorder or schizophrenia | 2.000000e-17 |
| GCST004521_51 | Autism spectrum disorder or schizophrenia | 9.000000e-14 |
| GCST004521_56 | Autism spectrum disorder or schizophrenia | 1.000000e-22 |
| GCST004521_58 | Autism spectrum disorder or schizophrenia | 1.000000e-17 |
| GCST004521_59 | Autism spectrum disorder or schizophrenia | 1.000000e-11 |
| GCST004521_70 | Autism spectrum disorder or schizophrenia | 8.000000e-20 |
| GCST004521_79 | Autism spectrum disorder or schizophrenia | 1.000000e-16 |
| GCST004521_80 | Autism spectrum disorder or schizophrenia | 1.000000e-15 |
| GCST004521_92 | Autism spectrum disorder or schizophrenia | 1.000000e-11 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004529 | lipid measurement |
| EFO:0003015 | aggressive behavior |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
26 total (human), top 26 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | affects cotreatment, decreases expression, increases abundance, increases expression | 3 |
| Lead | affects methylation, decreases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| bisphenol A | affects expression | 1 |
| manganese chloride | affects cotreatment, increases abundance, increases expression | 1 |
| 2-palmitoylglycerol | increases expression | 1 |
| monomethylarsonous acid | increases expression | 1 |
| ICG 001 | increases expression | 1 |
| abrine | increases expression | 1 |
| Resveratrol | affects cotreatment, decreases expression | 1 |
| Decitabine | affects expression | 1 |
| Arsenic | affects cotreatment, increases abundance, increases expression | 1 |
| Benzo(a)pyrene | increases methylation | 1 |
| Caffeine | decreases phosphorylation | 1 |
| Cisplatin | affects expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Ivermectin | decreases expression | 1 |
| Manganese | affects cotreatment, increases abundance, increases expression | 1 |
| Plant Extracts | affects cotreatment, decreases expression | 1 |
| Smoke | decreases expression | 1 |
| Tretinoin | affects cotreatment, decreases expression | 1 |
| 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide | decreases expression | 1 |
| Cyclosporine | increases expression | 1 |
| Antirheumatic Agents | decreases expression | 1 |
| Cadmium Chloride | increases 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.