PPP2R2D
gene geneOn this page
Also known as MDS026B55deltaB55D
Summary
PPP2R2D (protein phosphatase 2 regulatory subunit Bdelta, HGNC:23732) is a protein-coding gene on chromosome 10q26.3, encoding Serine/threonine-protein phosphatase 2A 55 kDa regulatory subunit B delta isoform (Q66LE6). Substrate-recognition subunit of protein phosphatase 2A (PP2A) that plays a key role in cell cycle by controlling mitosis entry and exit.
Predicted to enable enzyme-substrate adaptor activity and protein phosphatase regulator activity. Predicted to be involved in exit from mitosis and regulation of chromosome segregation. Predicted to be located in cytoplasm. Predicted to be part of protein phosphatase type 2A complex. Predicted to be active in cytosol.
Source: NCBI Gene 55844 — RefSeq curated summary.
At a glance
- GWAS associations: 8
- Clinical variants (ClinVar): 5 total — 1 pathogenic
- MANE Select transcript:
NM_018461
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:23732 |
| Approved symbol | PPP2R2D |
| Name | protein phosphatase 2 regulatory subunit Bdelta |
| Location | 10q26.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | MDS026, B55delta, B55D |
| Ensembl gene | ENSG00000175470 |
| Ensembl biotype | protein_coding |
| OMIM | 613992 |
| Entrez | 55844 |
Gene structure
Transcript identifiers
Ensembl transcripts: 14 — 7 protein_coding, 4 nonsense_mediated_decay, 3 retained_intron
ENST00000455566, ENST00000470416, ENST00000472664, ENST00000482010, ENST00000490777, ENST00000517472, ENST00000616467, ENST00000649083, ENST00000899910, ENST00000899911, ENST00000936866, ENST00000941365, ENST00000941366, ENST00000941367
RefSeq mRNA: 2 — MANE Select: NM_018461
NM_001291310, NM_018461
CCDS: CCDS73224
Canonical transcript exons
ENST00000455566 — 9 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001654980 | 131955684 | 131959834 |
| ENSE00003562626 | 131945295 | 131945459 |
| ENSE00003570760 | 131940582 | 131940694 |
| ENSE00003579592 | 131943968 | 131944145 |
| ENSE00003670526 | 131940031 | 131940196 |
| ENSE00003673467 | 131947530 | 131947791 |
| ENSE00003741791 | 131901238 | 131901330 |
| ENSE00003753511 | 131901008 | 131901155 |
| ENSE00003754496 | 131934458 | 131934555 |
Expression profiles
Bgee: expression breadth ubiquitous, 251 present calls, max score 96.02.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 11.5306 / max 118.9985, expressed in 1798 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 206060 | 5.1513 | 1701 |
| 206059 | 3.6689 | 1669 |
| 206061 | 2.1566 | 1159 |
| 206058 | 0.5537 | 293 |
Top tissues by expression
275 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| body of pancreas | UBERON:0001150 | 96.02 | gold quality |
| adrenal tissue | UBERON:0018303 | 93.13 | gold quality |
| left ovary | UBERON:0002119 | 93.05 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 92.70 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 92.50 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 92.46 | gold quality |
| cerebellar cortex | UBERON:0002129 | 92.44 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 92.32 | gold quality |
| right adrenal gland | UBERON:0001233 | 92.29 | gold quality |
| pancreas | UBERON:0001264 | 92.25 | gold quality |
| cortical plate | UBERON:0005343 | 92.00 | gold quality |
| left adrenal gland | UBERON:0001234 | 91.93 | gold quality |
| cerebellum | UBERON:0002037 | 91.88 | gold quality |
| ganglionic eminence | UBERON:0004023 | 91.87 | gold quality |
| primary visual cortex | UBERON:0002436 | 91.75 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 91.75 | gold quality |
| adenohypophysis | UBERON:0002196 | 91.74 | gold quality |
| right ovary | UBERON:0002118 | 91.66 | gold quality |
| pituitary gland | UBERON:0000007 | 91.62 | gold quality |
| adrenal cortex | UBERON:0001235 | 91.43 | gold quality |
| adrenal gland | UBERON:0002369 | 91.42 | gold quality |
| apex of heart | UBERON:0002098 | 91.34 | gold quality |
| prefrontal cortex | UBERON:0000451 | 90.89 | gold quality |
| calcaneal tendon | UBERON:0003701 | 90.88 | gold quality |
| granulocyte | CL:0000094 | 90.73 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 90.68 | gold quality |
| gastrocnemius | UBERON:0001388 | 90.65 | gold quality |
| right atrium auricular region | UBERON:0006631 | 90.60 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 90.46 | gold quality |
| lower esophagus | UBERON:0013473 | 90.45 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 5.94 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): E2F1, NF1
miRNA regulators (miRDB)
80 targeting PPP2R2D, 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-6798-5P | 100.00 | 65.77 | 699 |
| HSA-MIR-4476 | 100.00 | 68.18 | 2030 |
| HSA-MIR-6876-5P | 100.00 | 67.68 | 2126 |
| HSA-MIR-8485 | 100.00 | 77.57 | 4731 |
| HSA-MIR-6870-5P | 99.99 | 68.55 | 2115 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-4531 | 99.99 | 69.70 | 3181 |
| HSA-MIR-3617-3P | 99.98 | 67.86 | 918 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-4723-5P | 99.97 | 68.70 | 2034 |
| HSA-MIR-5698 | 99.97 | 68.49 | 2029 |
| HSA-MIR-7111-5P | 99.97 | 68.48 | 2062 |
| HSA-MIR-548AJ-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-548X-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-128-3P | 99.95 | 71.17 | 2484 |
| HSA-MIR-216A-3P | 99.95 | 71.19 | 2505 |
| HSA-MIR-4525 | 99.94 | 64.38 | 675 |
| HSA-MIR-5010-5P | 99.94 | 64.11 | 705 |
| HSA-MIR-144-3P | 99.94 | 73.98 | 2698 |
| HSA-MIR-329-3P | 99.91 | 66.56 | 1234 |
| HSA-MIR-362-3P | 99.91 | 66.38 | 1267 |
| HSA-MIR-6809-3P | 99.91 | 71.45 | 3814 |
| HSA-MIR-4493 | 99.90 | 66.48 | 977 |
| HSA-MIR-3681-3P | 99.88 | 70.46 | 2254 |
| HSA-MIR-3065-3P | 99.87 | 70.25 | 1407 |
| HSA-MIR-383-3P | 99.85 | 65.84 | 1359 |
| HSA-MIR-205-5P | 99.81 | 70.05 | 1557 |
| HSA-MIR-6794-5P | 99.76 | 66.38 | 1048 |
| HSA-MIR-1208 | 99.70 | 68.28 | 1533 |
| HSA-MIR-4716-3P | 99.69 | 66.73 | 1022 |
Literature-anchored findings (GeneRIF, showing 6)
- These highly related members of the same subfamily of PP2A regulatory subunits differentially regulate TGF-beta/Activin/Nodal signalling to elicit opposing biological outcomes. (PMID:18697906)
- The -462 G>A variant of PPP2R2D affects NF1 binding to the proximal promoter of PPP2R2D. (PMID:22539979)
- The PP2A regulatory subunit PPP2R2D inhibits T-cell proliferation and survival within tumors. (PMID:24596207)
- Results show that PPP2R2D expression was significantly upregulated at the mRNA and protein levels in gastric cancer (GC) tissues and correlated with poor prognosis. Further evidence demonstrates an oncogenic role of PPP2R2D in GC progression and development through regulation of mTOR. (PMID:29568966)
- PPP2R2D suppresses IL-2 production and Treg function. (PMID:32897879)
- MicroRNA-5010-5p ameliorates high-glucose induced inflammation in renal tubular epithelial cells by modulating the expression of PPP2R2D. (PMID:38442987)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | ppp2r2d | ENSDARG00000102009 |
| mus_musculus | Ppp2r2d | ENSMUSG00000041769 |
| rattus_norvegicus | Ppp2r2d | ENSRNOG00000016940 |
| caenorhabditis_elegans | sur-6 | WBGENE00006352 |
Paralogs (3): PPP2R2C (ENSG00000074211), PPP2R2B (ENSG00000156475), PPP2R2A (ENSG00000221914)
Protein
Protein identifiers
Serine/threonine-protein phosphatase 2A 55 kDa regulatory subunit B delta isoform — Q66LE6 (reviewed: Q66LE6)
Alternative names: PP2A subunit B isoform B55-delta, PP2A subunit B isoform PR55-delta, PP2A subunit B isoform R2-delta, PP2A subunit B isoform delta
All UniProt accessions (5): A0A096LPI9, A0A0A6YYD6, A0A3B3IRK1, Q66LE6, H0YB06
UniProt curated annotations — full annotation on UniProt →
Function. Substrate-recognition subunit of protein phosphatase 2A (PP2A) that plays a key role in cell cycle by controlling mitosis entry and exit. Involved in chromosome clustering during late mitosis by mediating dephosphorylation of MKI67. The activity of PP2A complexes containing PPP2R2D (PR55-delta) fluctuate during the cell cycle: the activity is high in interphase and low in mitosis.
Subunit / interactions. PP2A consists of a common heterodimeric core enzyme, composed of a 36 kDa catalytic subunit (subunit C) and a 65 kDa constant regulatory subunit (PR65 or subunit A), that associates with a variety of regulatory subunits. Proteins that associate with the core dimer include three families of regulatory subunits B (the R2/B/PR55/B55, R3/B’’/PR72/PR130/PR59 and R5/B’/B56 families), the 48 kDa variable regulatory subunit, viral proteins, and cell signaling molecules. Interacts with ENSA (when phosphorylated at ‘Ser-67’) and ARPP19 (when phosphorylated at ‘Ser-62’), leading to inhibit PP2A activity. Interacts with IER5.
Subcellular location. Cytoplasm.
Similarity. Belongs to the phosphatase 2A regulatory subunit B family.
RefSeq proteins (2): NP_001278239, NP_060931* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000009 | PP2A_PR55 | Family |
| IPR001680 | WD40_rpt | Repeat |
| IPR015943 | WD40/YVTN_repeat-like_dom_sf | Homologous_superfamily |
| IPR018067 | PP2A_PR55_CS | Conserved_site |
| IPR036322 | WD40_repeat_dom_sf | Homologous_superfamily |
UniProt features (16 total): repeat 7, sequence conflict 4, modified residue 3, chain 1, sequence variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q66LE6-F1 | 91.81 | 0.78 |
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 (3): 308, 285, 305
Function
Pathways and Gene Ontology
Reactome pathways
5 pathways
| ID | Pathway |
|---|---|
| R-HSA-2465910 | MASTL Facilitates Mitotic Progression |
| R-HSA-1640170 | Cell Cycle |
| R-HSA-68875 | Mitotic Prophase |
| R-HSA-68886 | M Phase |
| R-HSA-69278 | Cell Cycle, Mitotic |
MSigDB gene sets: 120 (showing top):
BUYTAERT_PHOTODYNAMIC_THERAPY_STRESS_DN, GOBP_CELL_CYCLE_PHASE_TRANSITION, KEGG_TIGHT_JUNCTION, GOBP_ORGANELLE_FISSION, GOBP_REGULATION_OF_CHROMOSOME_SEGREGATION, GOBP_EXIT_FROM_MITOSIS, GOBP_REGULATION_OF_CELL_CYCLE, GOBP_MITOTIC_NUCLEAR_DIVISION, GOBP_MITOTIC_CELL_CYCLE, LASTOWSKA_NEUROBLASTOMA_COPY_NUMBER_DN, GOBP_REGULATION_OF_CELL_CYCLE_PROCESS, GOBP_CELL_DIVISION, GOBP_CELL_CYCLE_PROCESS, GOCC_PROTEIN_PHOSPHATASE_TYPE_2A_COMPLEX, GEORGES_TARGETS_OF_MIR192_AND_MIR215
GO Biological Process (4): mitotic cell cycle (GO:0000278), exit from mitosis (GO:0010458), cell division (GO:0051301), regulation of chromosome segregation (GO:0051983)
GO Molecular Function (3): protein phosphatase regulator activity (GO:0019888), enzyme-substrate adaptor activity (GO:0140767), protein binding (GO:0005515)
GO Cellular Component (3): protein phosphatase type 2A complex (GO:0000159), cytosol (GO:0005829), cytoplasm (GO:0005737)
Reactome top-level categories
Rollup of top-4 pathways:
| Category | Pathways |
|---|---|
| Mitotic Prophase | 1 |
| M Phase | 1 |
| Cell Cycle, Mitotic | 1 |
| Cell Cycle | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| mitotic nuclear division | 2 |
| cellular anatomical structure | 2 |
| cell cycle | 1 |
| mitotic cell cycle phase transition | 1 |
| cellular process | 1 |
| chromosome segregation | 1 |
| regulation of cell cycle process | 1 |
| phosphoprotein phosphatase activity | 1 |
| phosphatase regulator activity | 1 |
| protein phosphatase binding | 1 |
| protein-macromolecule adaptor activity | 1 |
| binding | 1 |
| protein serine/threonine phosphatase complex | 1 |
| cytoplasm | 1 |
| intracellular anatomical structure | 1 |
Protein interactions and networks
STRING
1698 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| PPP2R2D | ENSA | O43768 | 972 |
| PPP2R2D | ARPP19 | P56211 | 970 |
| PPP2R2D | MASTL | Q96GX5 | 959 |
| PPP2R2D | PPP2R1A | P30153 | 880 |
| PPP2R2D | PPP2R5A | Q15172 | 863 |
| PPP2R2D | PPP2CA | P05323 | 855 |
| PPP2R2D | PPP2R2A | P50409 | 791 |
| PPP2R2D | PPP2R3C | Q969Q6 | 775 |
| PPP2R2D | CDK1 | P06493 | 744 |
| PPP2R2D | PPP2R5D | Q14738 | 744 |
| PPP2R2D | PPP2R5E | Q16537 | 739 |
| PPP2R2D | PPP2R5B | Q15173 | 736 |
| PPP2R2D | PPP2R3A | Q06190 | 732 |
| PPP2R2D | PPP2R5C | Q13362 | 723 |
| PPP2R2D | PPP2R3B | Q9Y5P8 | 719 |
IntAct
182 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| PPME1 | PPP2R1A | psi-mi:“MI:0914”(association) | 0.950 |
| PPP2R1A | STRN | psi-mi:“MI:0914”(association) | 0.880 |
| PPP2R1A | STRN | psi-mi:“MI:2364”(proximity) | 0.880 |
| PABIR1 | PPP2R1A | psi-mi:“MI:0914”(association) | 0.880 |
| PPME1 | PPP2CA | psi-mi:“MI:0914”(association) | 0.880 |
| PPP2CA | STRN | psi-mi:“MI:0914”(association) | 0.840 |
| PPP2CB | STRN | psi-mi:“MI:0914”(association) | 0.790 |
| CDCA4 | PPP2R1A | psi-mi:“MI:0914”(association) | 0.790 |
| SARNP | DDX39A | psi-mi:“MI:0914”(association) | 0.740 |
| PPP2R2D | YEATS4 | psi-mi:“MI:0914”(association) | 0.730 |
| PPP2CB | CEP43 | psi-mi:“MI:0914”(association) | 0.730 |
| SERTAD4 | PPP2R1A | psi-mi:“MI:0914”(association) | 0.730 |
| RBM7 | PPP2R1A | psi-mi:“MI:0914”(association) | 0.730 |
| CFTR | ESYT2 | psi-mi:“MI:0914”(association) | 0.710 |
| FAM9C | NDC80 | psi-mi:“MI:0914”(association) | 0.670 |
| ZNF414 | AHCYL1 | psi-mi:“MI:0914”(association) | 0.640 |
| SARNP | ZC3H11A | psi-mi:“MI:0914”(association) | 0.610 |
BioGRID (345): DAPK1 (Affinity Capture-Western), PPP2CA (Affinity Capture-Western), PPP2R1A (Affinity Capture-Western), PPP2R5A (Affinity Capture-Western), PPP2R2D (Affinity Capture-Western), PPP2R2D (Affinity Capture-Western), DAPK1 (Biochemical Activity), PPP2R2D (Affinity Capture-MS), PPP2R2D (Affinity Capture-MS), PPP2R2D (Affinity Capture-MS), PPP2R2D (Affinity Capture-MS), PPP2R2D (Affinity Capture-MS), PPP2R2D (Affinity Capture-MS), PPP2R2D (Affinity Capture-MS), PPP2R2D (Affinity Capture-MS)
ESM2 similar proteins: A1L3L9, A2X2K3, B0R0D7, B6VA23, O35142, O55029, P35606, P36876, P36877, P50410, P54614, P56932, P63150, P63151, P97888, Q00005, Q00006, Q0D2F4, Q0E2P1, Q29090, Q38821, Q39247, Q4R4I8, Q4R7Z4, Q4R8L3, Q5E9Q7, Q5R4A2, Q5R664, Q5Z8Z7, Q5ZIY5, Q66LE6, Q6AY57, Q6DIY3, Q6NY64, Q6P1F6, Q6QEF8, Q6ZWR4, Q7ZWU5, Q7ZX64, Q80W47
Diamond homologs: A1L3L9, A2X2K3, B6VA23, G5EDR3, P36872, P36876, P36877, P50410, P53031, P54614, P56932, P63150, P63151, P97888, Q00005, Q00006, Q00362, Q0D2F4, Q0E2P1, Q12702, Q29090, Q38821, Q39247, Q4R7Z4, Q4R8L3, Q54Q99, Q5E9Q7, Q5R4A2, Q5Z8Z7, Q5ZIY5, Q66LE6, Q6DIY3, Q6NY64, Q6P1F6, Q6ZWR4, Q7ZX64, Q8BG02, Q925E7, Q95LP0, Q9Y2T4
SIGNOR signaling
2 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| ARPP19 | “down-regulates activity” | PPP2R2D | binding |
| ENSA | “down-regulates activity” | PPP2R2D | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 198 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 |
|---|---|---|---|
| Co-inhibition by CTLA4 | 5 | 21.4× | 4e-04 |
| Disassembly of the destruction complex and recruitment of AXIN to the membrane | 6 | 17.7× | 2e-04 |
| Co-stimulation by CD28 | 5 | 15.7× | 6e-04 |
| Cyclin A/B1/B2 associated events during G2/M transition | 6 | 15.3× | 4e-04 |
| RAF activation | 5 | 13.9× | 9e-04 |
| Cyclin D associated events in G1 | 6 | 11.6× | 6e-04 |
| RHO GTPase Effectors | 10 | 5.6× | 6e-04 |
| Intracellular signaling by second messengers | 7 | 5.3× | 9e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
5 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 1 |
| Likely pathogenic | 0 |
| Uncertain significance | 2 |
| Likely benign | 2 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 979909 | GRCh37/hg19 10q26.2-26.3(chr10:129031265-135427143)x1 | Pathogenic |
SpliceAI
1055 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 10:131945458:GT:G | donor_gain | 1.0000 |
| 10:131947526:TCAG:T | acceptor_loss | 1.0000 |
| 10:131947527:CAGT:C | acceptor_loss | 1.0000 |
| 10:131947528:A:AG | acceptor_gain | 1.0000 |
| 10:131947528:AGTT:A | acceptor_loss | 1.0000 |
| 10:131947529:G:GA | acceptor_gain | 1.0000 |
| 10:131947529:GTT:G | acceptor_gain | 1.0000 |
| 10:131947701:TCCAC:T | donor_gain | 1.0000 |
| 10:131940196:GGT:G | donor_loss | 0.9900 |
| 10:131940197:G:GG | donor_gain | 0.9900 |
| 10:131940197:GT:G | donor_loss | 0.9900 |
| 10:131940198:T:G | donor_loss | 0.9900 |
| 10:131944882:G:GT | donor_gain | 0.9900 |
| 10:131945287:A:AG | acceptor_gain | 0.9900 |
| 10:131945460:G:GG | donor_gain | 0.9900 |
| 10:131947529:GT:G | acceptor_gain | 0.9900 |
| 10:131947529:GTTT:G | acceptor_gain | 0.9900 |
| 10:131947529:GTTTT:G | acceptor_gain | 0.9900 |
| 10:131955682:A:AG | acceptor_gain | 0.9900 |
| 10:131955683:G:GG | acceptor_gain | 0.9900 |
| 10:131955683:GC:G | acceptor_gain | 0.9900 |
| 10:131945457:AGT:A | donor_gain | 0.9800 |
| 10:131945458:GTG:G | donor_gain | 0.9800 |
| 10:131945459:TGT:T | donor_gain | 0.9800 |
| 10:131947527:CAG:C | acceptor_gain | 0.9800 |
| 10:131947702:CCACG:C | donor_gain | 0.9800 |
| 10:131947762:GTT:G | donor_gain | 0.9800 |
| 10:131947763:TTT:T | donor_gain | 0.9800 |
| 10:131947788:ATAGG:A | donor_loss | 0.9800 |
| 10:131947789:TAG:T | donor_loss | 0.9800 |
AlphaMissense
3062 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 10:131901303:G:A | G25R | 1.000 |
| 10:131901303:G:C | G25R | 1.000 |
| 10:131934503:T:A | L49H | 1.000 |
| 10:131934503:T:C | L49P | 1.000 |
| 10:131934505:G:C | A50P | 1.000 |
| 10:131934506:C:A | A50E | 1.000 |
| 10:131934511:G:A | G52R | 1.000 |
| 10:131934511:G:C | G52R | 1.000 |
| 10:131934512:G:A | G52E | 1.000 |
| 10:131934512:G:T | G52V | 1.000 |
| 10:131934514:G:C | D53H | 1.000 |
| 10:131934523:G:C | G56R | 1.000 |
| 10:131934524:G:A | G56D | 1.000 |
| 10:131934524:G:T | G56V | 1.000 |
| 10:131934530:T:A | V58D | 1.000 |
| 10:131934538:T:C | F61L | 1.000 |
| 10:131934539:T:C | F61S | 1.000 |
| 10:131934540:T:A | F61L | 1.000 |
| 10:131934540:T:G | F61L | 1.000 |
| 10:131940085:A:C | S85R | 1.000 |
| 10:131940087:T:A | S85R | 1.000 |
| 10:131940087:T:G | S85R | 1.000 |
| 10:131940100:T:C | F90L | 1.000 |
| 10:131940101:T:C | F90S | 1.000 |
| 10:131940101:T:G | F90C | 1.000 |
| 10:131940102:T:A | F90L | 1.000 |
| 10:131940102:T:G | F90L | 1.000 |
| 10:131940103:G:C | D91H | 1.000 |
| 10:131940110:T:C | L93S | 1.000 |
| 10:131940110:T:G | L93W | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000028134 (10:131933980 T>C,G), RS1000029226 (10:131946827 C>G), RS1000105926 (10:131960942 T>C), RS1000172600 (10:131910187 G>A,T), RS1000179267 (10:131949216 C>T), RS1000184491 (10:131913175 G>A), RS1000193384 (10:131971437 G>A), RS1000237864 (10:131910523 T>G), RS1000276249 (10:131929293 C>T), RS1000288424 (10:131915282 C>G), RS1000392460 (10:131924197 G>A), RS1000399391 (10:131956485 C>A,T), RS1000494090 (10:131967253 T>C), RS1000524059 (10:131900605 G>A), RS1000667991 (10:131944198 G>C)
Disease associations
OMIM: gene MIM:613992 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
8 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST004792_5 | Amyotrophic lateral sclerosis in C9orf72 mutation positive individuals | 9.000000e-06 |
| GCST005316_354 | Intelligence (MTAG) | 4.000000e-09 |
| GCST005790_20 | Rosacea symptom severity | 9.000000e-06 |
| GCST006624_44 | Systolic blood pressure | 7.000000e-14 |
| GCST007267_15 | Systolic blood pressure | 3.000000e-12 |
| GCST007576_149 | Chronotype | 2.000000e-08 |
| GCST009391_865 | Metabolite levels | 4.000000e-06 |
| GCST009524_256 | Household income (MTAG) | 3.000000e-11 |
EFO canonical traits (6, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004337 | intelligence |
| EFO:0009180 | rosacea severity measurement |
| EFO:0006335 | systolic blood pressure |
| EFO:0008328 | chronotype measurement |
| EFO:0010534 | suberic acid measurement |
| EFO:0009695 | household income |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
32 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Copper | increases expression, affects binding | 2 |
| Tobacco Smoke Pollution | increases expression | 2 |
| Valproic Acid | increases methylation, increases expression | 2 |
| triphenyl phosphate | affects expression | 1 |
| mono-(2-ethylhexyl)phthalate | decreases expression | 1 |
| sodium arsenite | increases abundance, decreases expression | 1 |
| N,N,N’,N’-tetrakis(2-pyridylmethyl)ethylenediamine | decreases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| entinostat | affects cotreatment, decreases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression | 1 |
| abrine | increases expression | 1 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| bisphenol S | decreases methylation | 1 |
| NSC 689534 | affects binding, increases expression | 1 |
| Resveratrol | affects cotreatment, increases expression | 1 |
| Vorinostat | decreases expression | 1 |
| Air Pollutants | affects expression, increases abundance | 1 |
| Arsenic | decreases expression, increases abundance | 1 |
| Benzo(a)pyrene | increases methylation | 1 |
| Chelating Agents | affects binding, increases expression | 1 |
| Methyl Methanesulfonate | increases expression | 1 |
| Ozone | affects expression, increases abundance | 1 |
| Plant Extracts | affects cotreatment, increases expression | 1 |
| Quercetin | increases expression | 1 |
| Thiram | increases expression | 1 |
| Tretinoin | decreases expression | 1 |
| 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide | decreases expression | 1 |
| Aflatoxin B1 | increases methylation | 1 |
| Sodium Selenite | increases expression | 1 |
| Antirheumatic Agents | increases expression | 1 |
Cellosaurus cell lines
3 cell lines: 3 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_TF98 | HAP1 PPP2R2D (-) 1 | Cancer cell line | Male |
| CVCL_TF99 | HAP1 PPP2R2D (-) 2 | Cancer cell line | Male |
| CVCL_TG00 | HAP1 PPP2R2D (-) 3 | Cancer cell line | Male |
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.