PPP2R2C
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Also known as PR52IMYPNOMGC33570PR55GB55gamma
Summary
PPP2R2C (protein phosphatase 2 regulatory subunit Bgamma, HGNC:9306) is a protein-coding gene on chromosome 4p16.1, encoding Serine/threonine-protein phosphatase 2A 55 kDa regulatory subunit B gamma isoform (Q9Y2T4). The B regulatory subunit might modulate substrate selectivity and catalytic activity, and might also direct the localization of the catalytic enzyme to a particular subcellular compartment.
The product of this gene belongs to the phosphatase 2 regulatory subunit B family. Protein phosphatase 2 is one of the four major Ser/Thr phosphatases, and it is implicated in the negative control of cell growth and division. It consists of a common heteromeric core enzyme, which is composed of a catalytic subunit and a constant regulatory subunit, that associates with a variety of regulatory subunits. The B regulatory subunit might modulate substrate selectivity and catalytic activity. This gene encodes a gamma isoform of the regulatory subunit B55 subfamily. Alternatively spliced transcript variants encoding different isoforms have been identified.
Source: NCBI Gene 5522 — RefSeq curated summary.
At a glance
- GWAS associations: 5
- Clinical variants (ClinVar): 53 total
- MANE Select transcript:
NM_020416
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:9306 |
| Approved symbol | PPP2R2C |
| Name | protein phosphatase 2 regulatory subunit Bgamma |
| Location | 4p16.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | PR52, IMYPNO, MGC33570, PR55G, B55gamma |
| Ensembl gene | ENSG00000074211 |
| Ensembl biotype | protein_coding |
| OMIM | 605997 |
| Entrez | 5522 |
Gene structure
Transcript identifiers
Ensembl transcripts: 9 — 5 protein_coding, 2 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay, 1 retained_intron
ENST00000314348, ENST00000335585, ENST00000382599, ENST00000506140, ENST00000507028, ENST00000507294, ENST00000509917, ENST00000513943, ENST00000515571
RefSeq mRNA: 6 — MANE Select: NM_020416
NM_001206994, NM_001206995, NM_001206996, NM_001363388, NM_020416, NM_181876
CCDS: CCDS3387, CCDS3388, CCDS56304, CCDS56305
Canonical transcript exons
ENST00000382599 — 9 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000701041 | 6329262 | 6329353 |
| ENSE00000701114 | 6333562 | 6333731 |
| ENSE00001492745 | 6472160 | 6472614 |
| ENSE00002084339 | 6320581 | 6323593 |
| ENSE00003504503 | 6347846 | 6348010 |
| ENSE00003533758 | 6375819 | 6375931 |
| ENSE00003576459 | 6378407 | 6378572 |
| ENSE00003614075 | 6372523 | 6372700 |
| ENSE00003636815 | 6380997 | 6381094 |
Expression profiles
Bgee: expression breadth ubiquitous, 208 present calls, max score 99.07.
FANTOM5 (CAGE): breadth broad, TPM avg 7.8880 / max 262.1373, expressed in 517 samples.
FANTOM5 promoters (22 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 51251 | 4.1049 | 419 |
| 51249 | 1.1469 | 281 |
| 51261 | 0.5866 | 112 |
| 51248 | 0.5712 | 135 |
| 51247 | 0.2112 | 78 |
| 51253 | 0.1873 | 62 |
| 51262 | 0.1784 | 63 |
| 51246 | 0.1709 | 92 |
| 51254 | 0.1503 | 57 |
| 51252 | 0.1409 | 81 |
Top tissues by expression
253 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| middle temporal gyrus | UBERON:0002771 | 99.07 | gold quality |
| Brodmann (1909) area 46 | UBERON:0006483 | 98.87 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 98.61 | gold quality |
| parietal lobe | UBERON:0001872 | 98.57 | gold quality |
| postcentral gyrus | UBERON:0002581 | 98.55 | gold quality |
| occipital lobe | UBERON:0002021 | 98.30 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 98.30 | gold quality |
| entorhinal cortex | UBERON:0002728 | 98.28 | gold quality |
| primary visual cortex | UBERON:0002436 | 98.14 | gold quality |
| prefrontal cortex | UBERON:0000451 | 98.09 | gold quality |
| inferior vagus X ganglion | UBERON:0005363 | 98.06 | gold quality |
| frontal cortex | UBERON:0001870 | 97.97 | gold quality |
| pons | UBERON:0000988 | 97.86 | gold quality |
| medial globus pallidus | UBERON:0002477 | 97.81 | gold quality |
| lateral nuclear group of thalamus | UBERON:0002736 | 97.75 | gold quality |
| globus pallidus | UBERON:0001875 | 97.74 | gold quality |
| temporal lobe | UBERON:0001871 | 97.66 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 97.66 | gold quality |
| right frontal lobe | UBERON:0002810 | 97.60 | gold quality |
| caudate nucleus | UBERON:0001873 | 97.57 | gold quality |
| nucleus accumbens | UBERON:0001882 | 97.53 | gold quality |
| putamen | UBERON:0001874 | 97.51 | gold quality |
| lateral globus pallidus | UBERON:0002476 | 97.42 | gold quality |
| superior vestibular nucleus | UBERON:0007227 | 97.37 | gold quality |
| substantia nigra pars reticulata | UBERON:0001966 | 97.30 | gold quality |
| substantia nigra pars compacta | UBERON:0001965 | 97.27 | gold quality |
| ventral tegmental area | UBERON:0002691 | 97.23 | gold quality |
| medulla oblongata | UBERON:0001896 | 97.21 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 97.21 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 97.20 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 4.49 |
| E-GEOD-124858 | no | 1.29 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): MYCN
miRNA regulators (miRDB)
110 targeting PPP2R2C, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):
| miRNA | Max score | Avg score | miRNA target_count |
|---|---|---|---|
| HSA-MIR-8485 | 100.00 | 77.57 | 4731 |
| HSA-MIR-200B-3P | 100.00 | 73.31 | 2693 |
| HSA-MIR-200C-3P | 100.00 | 73.35 | 2685 |
| HSA-MIR-429 | 100.00 | 73.44 | 2698 |
| HSA-MIR-4262 | 100.00 | 73.26 | 3931 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-4713-3P | 100.00 | 65.92 | 505 |
| HSA-MIR-513B-5P | 99.99 | 69.96 | 2150 |
| HSA-MIR-4803 | 99.98 | 71.99 | 3117 |
| HSA-MIR-302C-5P | 99.97 | 72.56 | 3642 |
| HSA-MIR-3148 | 99.97 | 75.06 | 6478 |
| HSA-MIR-559 | 99.95 | 72.28 | 3609 |
| HSA-MIR-548AB | 99.95 | 71.31 | 3488 |
| HSA-MIR-548A-5P | 99.94 | 71.27 | 3482 |
| HSA-MIR-548AD-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548AE-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548AK | 99.94 | 71.24 | 3488 |
| HSA-MIR-548AM-5P | 99.94 | 71.24 | 3488 |
| HSA-MIR-548AP-5P | 99.94 | 71.14 | 3489 |
| HSA-MIR-548AQ-5P | 99.94 | 71.34 | 3426 |
| HSA-MIR-548AR-5P | 99.94 | 71.28 | 3515 |
| HSA-MIR-548AS-5P | 99.94 | 71.22 | 3482 |
| HSA-MIR-548AU-5P | 99.94 | 71.24 | 3488 |
| HSA-MIR-548AY-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548B-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548BB-5P | 99.94 | 71.27 | 3509 |
| HSA-MIR-548C-5P | 99.94 | 71.24 | 3488 |
| HSA-MIR-548D-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548H-5P | 99.94 | 71.24 | 3488 |
| HSA-MIR-548I | 99.94 | 71.25 | 3481 |
Literature-anchored findings (GeneRIF, showing 9)
- specific PP2A complexes involved in human cell transformation (PMID:14998489)
- novel mechanism of c-SRC regulation whereby in response to stress c-SRC activity is regulated, at least in part, through loss of the interaction with its inhibitor, PR55gamma (PMID:18069897)
- encoding a subunit of proteinphosphatase 2A with a unique expression pattern in brain and a role in synaptic plasticity (PMID:20601260)
- evidence suggests that allelic variation in PPP2R2C may be associated with a variety of personality traits and ADHD per se. (PMID:22664926)
- These findings provide insights into mechanisms by which prostate cancers resist AR-pathway suppression and support inhibiting PPP2R2C complexes. (PMID:23493267)
- PPP2R2C is a potential tumor suppressor gene in human brain cancers. (PMID:24126060)
- miR-1301 promoted prostate cancer proliferation by inhibiting PPP2R2C. (PMID:27261573)
- B55gamma is induced by glucocorticoid receptor in human primary BM-MSCs during differentiation to osteoblast and is required for osteoblast morphogenesis. (PMID:28805158)
- High genetic risk scores of SLIT3, PLEKHA5 and PPP2R2C variants increase susceptibility to increased insulin resistance by 50% and its risk may be exacerbated by consuming more than 10 cups coffee/week or 220 mg caffeine/day. (PMID:30454882)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | ppp2r2ca | ENSDARG00000056797 |
| danio_rerio | ppp2r2cb | ENSDARG00000062277 |
| mus_musculus | Ppp2r2c | ENSMUSG00000029120 |
| rattus_norvegicus | Ppp2r2c | ENSRNOG00000058202 |
| caenorhabditis_elegans | sur-6 | WBGENE00006352 |
Paralogs (3): PPP2R2B (ENSG00000156475), PPP2R2D (ENSG00000175470), PPP2R2A (ENSG00000221914)
Protein
Protein identifiers
Serine/threonine-protein phosphatase 2A 55 kDa regulatory subunit B gamma isoform — Q9Y2T4 (reviewed: Q9Y2T4)
Alternative names: IMYPNO1, PP2A subunit B isoform B55-gamma, PP2A subunit B isoform PR55-gamma, PP2A subunit B isoform R2-gamma, PP2A subunit B isoform gamma
All UniProt accessions (2): Q9Y2T4, D6R943
UniProt curated annotations — full annotation on UniProt →
Function. The B regulatory subunit might modulate substrate selectivity and catalytic activity, and might also direct the localization of the catalytic enzyme to a particular subcellular compartment.
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 IER5.
Similarity. Belongs to the phosphatase 2A regulatory subunit B family.
Isoforms (4)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9Y2T4-1 | 1 | yes |
| Q9Y2T4-2 | 2 | |
| Q9Y2T4-3 | 3 | |
| Q9Y2T4-4 | 4 |
RefSeq proteins (6): NP_001193923, NP_001193924, NP_001193925, NP_001350317, NP_065149, NP_870991 (=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 (14 total): repeat 7, splice variant 3, sequence conflict 3, chain 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9Y2T4-F1 | 89.53 | 0.75 |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 96 (showing top):
RNGTGGGC_UNKNOWN, AP1_01, PEREZ_TP63_TARGETS, TATTATA_MIR374, KEGG_TIGHT_JUNCTION, HANN_RESISTANCE_TO_BCL2_INHIBITOR_UP, ATGTTAA_MIR302C, WANG_ESOPHAGUS_CANCER_VS_NORMAL_DN, chr4p16, TGANTCA_AP1_C, NRF2_Q4, FUJII_YBX1_TARGETS_DN, PEREZ_TP53_AND_TP63_TARGETS, HAND1E47_01, ACEVEDO_METHYLATED_IN_LIVER_CANCER_DN
GO Biological Process (0):
GO Molecular Function (2): protein phosphatase regulator activity (GO:0019888), protein binding (GO:0005515)
GO Cellular Component (2): protein phosphatase type 2A complex (GO:0000159), cytosol (GO:0005829)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| phosphoprotein phosphatase activity | 1 |
| phosphatase regulator activity | 1 |
| protein phosphatase binding | 1 |
| binding | 1 |
| protein serine/threonine phosphatase complex | 1 |
| cytoplasm | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
2004 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| PPP2R2C | PPP2R1B | P30154 | 874 |
| PPP2R2C | PPP2R5C | Q13362 | 722 |
| PPP2R2C | PPP2R3B | Q9Y5P8 | 719 |
| PPP2R2C | PPP2CA | P05323 | 712 |
| PPP2R2C | PPP2R3C | Q969Q6 | 687 |
| PPP2R2C | PPP2R1A | P30153 | 678 |
| PPP2R2C | PPP2R5A | Q15172 | 644 |
| PPP2R2C | STRN | O43815 | 633 |
| PPP2R2C | PPP2R5B | Q15173 | 612 |
| PPP2R2C | PPP2R3A | Q06190 | 568 |
| PPP2R2C | PPP2R5D | Q14738 | 510 |
| PPP2R2C | MINK1 | Q8N4C8 | 508 |
| PPP2R2C | PPP2R5E | Q16537 | 495 |
| PPP2R2C | PTPA | Q15257 | 491 |
| PPP2R2C | HMX1 | Q9NP08 | 458 |
IntAct
22 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| PPP2R2C | PPP2R1A | psi-mi:“MI:0914”(association) | 0.730 |
| SERTAD4 | PPP2R1A | psi-mi:“MI:0914”(association) | 0.730 |
| PPP2R2C | PPP2CA | psi-mi:“MI:0915”(physical association) | 0.710 |
| PPP2CA | PPP2R2C | psi-mi:“MI:0914”(association) | 0.710 |
| PPP2R2C | TCP1 | psi-mi:“MI:0914”(association) | 0.640 |
| PPP2R2C | rep | psi-mi:“MI:0915”(physical association) | 0.550 |
| PPP2R2D | BAG2 | psi-mi:“MI:0914”(association) | 0.350 |
| PPP2R2A | S100A8 | psi-mi:“MI:0914”(association) | 0.350 |
| PPP2R2C | BAG2 | psi-mi:“MI:0914”(association) | 0.350 |
| SLX4 | SMAP | psi-mi:“MI:0914”(association) | 0.350 |
| M | psi-mi:“MI:0914”(association) | 0.350 | |
| rep | PRDX5 | psi-mi:“MI:0914”(association) | 0.350 |
| S100A2 | PLEKHG3 | psi-mi:“MI:0914”(association) | 0.350 |
| SMAD9 | VSIG8 | psi-mi:“MI:0914”(association) | 0.350 |
| ZNF114 | PPP2R1B | psi-mi:“MI:0914”(association) | 0.350 |
| SERTAD2 | PPP2R1B | psi-mi:“MI:0914”(association) | 0.350 |
| PABIR1 | PPP2R1B | psi-mi:“MI:0914”(association) | 0.350 |
| CBLL2 | COL1A1 | psi-mi:“MI:0914”(association) | 0.350 |
| PPP2R2C | PLEKHG3 | psi-mi:“MI:0914”(association) | 0.350 |
| PPP2R1A | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (177): CCT3 (Affinity Capture-MS), CCT6A (Affinity Capture-MS), CCT2 (Affinity Capture-MS), CCT7 (Affinity Capture-MS), POLR3A (Affinity Capture-MS), SIK2 (Affinity Capture-MS), TCP1 (Affinity Capture-MS), IQGAP1 (Affinity Capture-MS), PPP2R1B (Affinity Capture-MS), PPP2R1A (Affinity Capture-MS), STRN (Affinity Capture-MS), STRN3 (Affinity Capture-MS), STRN4 (Affinity Capture-MS), PPP2R2B (Affinity Capture-MS), ZCCHC8 (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
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| PPP2R2C | “down-regulates activity” | SRC | binding |
Disease & clinical
Clinical variants and AI predictions
ClinVar
53 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 39 |
| Likely benign | 0 |
| Benign | 2 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2546 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 4:6323589:TGACG:T | acceptor_gain | 1.0000 |
| 4:6323592:CG:C | acceptor_gain | 1.0000 |
| 4:6323594:C:CC | acceptor_gain | 1.0000 |
| 4:6329256:GCTTA:G | donor_loss | 1.0000 |
| 4:6329257:CTTA:C | donor_loss | 1.0000 |
| 4:6329258:TTACC:T | donor_loss | 1.0000 |
| 4:6329259:TAC:T | donor_loss | 1.0000 |
| 4:6329260:A:AC | donor_gain | 1.0000 |
| 4:6329260:A:C | donor_loss | 1.0000 |
| 4:6329261:C:CC | donor_gain | 1.0000 |
| 4:6333727:AAAGA:A | acceptor_gain | 1.0000 |
| 4:6333728:AAGA:A | acceptor_gain | 1.0000 |
| 4:6333729:AGA:A | acceptor_gain | 1.0000 |
| 4:6333729:AGAC:A | acceptor_loss | 1.0000 |
| 4:6333730:GA:G | acceptor_gain | 1.0000 |
| 4:6333731:AC:A | acceptor_loss | 1.0000 |
| 4:6333732:C:CC | acceptor_gain | 1.0000 |
| 4:6333733:T:C | acceptor_loss | 1.0000 |
| 4:6347844:A:AC | donor_gain | 1.0000 |
| 4:6347844:ACG:A | donor_gain | 1.0000 |
| 4:6347845:C:CC | donor_gain | 1.0000 |
| 4:6347845:CG:C | donor_gain | 1.0000 |
| 4:6347845:CGC:C | donor_gain | 1.0000 |
| 4:6372521:A:AC | donor_gain | 1.0000 |
| 4:6372522:C:CC | donor_gain | 1.0000 |
| 4:6372525:AAGCT:A | donor_gain | 1.0000 |
| 4:6372529:T:TA | donor_gain | 1.0000 |
| 4:6375817:A:AT | donor_loss | 1.0000 |
| 4:6375818:CCTG:C | donor_gain | 1.0000 |
| 4:6375927:TTTAT:T | acceptor_gain | 1.0000 |
AlphaMissense
3019 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 4:6323342:A:G | L435P | 1.000 |
| 4:6323357:G:T | A430D | 1.000 |
| 4:6323363:G:T | A428D | 1.000 |
| 4:6323388:A:G | W420R | 1.000 |
| 4:6323388:A:T | W420R | 1.000 |
| 4:6323516:G:T | A377D | 1.000 |
| 4:6323574:A:C | Y358D | 1.000 |
| 4:6323574:A:G | Y358H | 1.000 |
| 4:6323579:C:A | G356V | 1.000 |
| 4:6323579:C:T | G356E | 1.000 |
| 4:6323580:C:A | G356W | 1.000 |
| 4:6323580:C:G | G356R | 1.000 |
| 4:6323580:C:T | G356R | 1.000 |
| 4:6329288:A:C | F342L | 1.000 |
| 4:6329288:A:T | F342L | 1.000 |
| 4:6329290:A:G | F342L | 1.000 |
| 4:6329295:T:A | D340V | 1.000 |
| 4:6329296:C:G | D340H | 1.000 |
| 4:6329297:G:C | F339L | 1.000 |
| 4:6329297:G:T | F339L | 1.000 |
| 4:6329298:A:C | F339C | 1.000 |
| 4:6329298:A:G | F339S | 1.000 |
| 4:6329299:A:C | F339V | 1.000 |
| 4:6329299:A:G | F339L | 1.000 |
| 4:6329299:A:T | F339I | 1.000 |
| 4:6329301:A:T | I338N | 1.000 |
| 4:6329307:T:A | D336V | 1.000 |
| 4:6329308:C:G | D336H | 1.000 |
| 4:6329317:A:G | Y333H | 1.000 |
| 4:6329319:A:G | L332P | 1.000 |
dbSNP variants (sampled 300 via entrez): RS10000024 (4:6423539 A>G), RS1000014818 (4:6470834 G>A), RS1000020151 (4:6371575 T>C), RS1000023460 (4:6461736 T>C), RS1000055518 (4:6357437 C>A,T), RS1000065825 (4:6549586 C>G,T), RS1000073588 (4:6499537 A>T), RS1000096133 (4:6535455 C>A,T), RS1000119446 (4:6408430 G>C), RS10001231 (4:6332552 C>G,T), RS1000124714 (4:6363653 G>A), RS1000130401 (4:6541776 C>G), RS1000139383 (4:6408245 C>T), RS10001583 (4:6523803 T>A,C,G), RS1000167815 (4:6516242 G>A)
Disease associations
OMIM: gene MIM:605997 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
5 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000478_2 | Type 2 diabetes | 1.000000e-08 |
| GCST002709_27 | Electroencephalogram traits | 9.000000e-06 |
| GCST004134_15 | Multiple keratinocyte cancers | 5.000000e-06 |
| GCST008513_7 | Health literacy | 2.000000e-06 |
| GCST009391_1718 | Metabolite levels | 7.000000e-06 |
EFO canonical traits (3, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004357 | electroencephalogram measurement |
| EFO:0010104 | health literacy measurement |
| EFO:0010341 | cholesteryl ester 16:0 measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
56 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, increases expression, affects expression, increases methylation | 9 |
| sodium arsenite | decreases expression, increases abundance, increases expression | 5 |
| Estradiol | affects cotreatment, increases expression | 3 |
| bisphenol A | affects cotreatment, decreases methylation, increases expression | 2 |
| entinostat | increases expression, affects cotreatment | 2 |
| Benzo(a)pyrene | affects methylation, increases methylation | 2 |
| Copper | affects binding, increases expression, affects cotreatment, decreases expression | 2 |
| Aflatoxin B1 | increases methylation | 2 |
| aristolochic acid I | decreases expression | 1 |
| OTX015 | decreases expression | 1 |
| bisphenol F | affects cotreatment, increases methylation | 1 |
| mivebresib | decreases expression | 1 |
| dicrotophos | increases expression | 1 |
| methylmercuric chloride | increases expression | 1 |
| testosterone undecanoate | affects cotreatment, increases expression | 1 |
| trichostatin A | increases expression | 1 |
| arsenite | decreases expression, increases abundance | 1 |
| 11-nor-delta(9)-tetrahydrocannabinol-9-carboxylic acid | affects methylation, increases abundance | 1 |
| benzo(e)pyrene | increases methylation | 1 |
| aflatoxin B2 | affects methylation | 1 |
| cupric chloride | increases expression | 1 |
| beta-methylcholine | affects expression | 1 |
| 2,4-decadienal | affects response to substance | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression | 1 |
| erucylphospho-N,N,N-trimethylpropylammonium | increases expression | 1 |
| abrine | decreases expression | 1 |
| dorsomorphin | affects cotreatment, increases expression | 1 |
| bisphenol S | affects methylation | 1 |
| apatinib | affects cotreatment, increases expression | 1 |
Cellosaurus cell lines
1 cell lines: 1 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_TF97 | HAP1 PPP2R2C (-) | Cancer cell line | Male |
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): squamous cell carcinoma