PPP1R12C
gene geneOn this page
Also known as DKFZP434D0412p84MBS85p85AAVS1
Summary
PPP1R12C (protein phosphatase 1 regulatory subunit 12C, HGNC:14947) is a protein-coding gene on chromosome 19q13.42, encoding Protein phosphatase 1 regulatory subunit 12C (Q9BZL4). Regulates myosin phosphatase activity.
The gene encodes a subunit of myosin phosphatase. The encoded protein regulates the catalytic activity of protein phosphatase 1 delta and assembly of the actin cytoskeleton. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene.
Source: NCBI Gene 54776 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 153 total
- MANE Select transcript:
NM_017607
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:14947 |
| Approved symbol | PPP1R12C |
| Name | protein phosphatase 1 regulatory subunit 12C |
| Location | 19q13.42 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | DKFZP434D0412, p84, MBS85, p85, AAVS1 |
| Ensembl gene | ENSG00000125503 |
| Ensembl biotype | protein_coding |
| OMIM | 613245 |
| Entrez | 54776 |
Gene structure
Transcript identifiers
Ensembl transcripts: 22 — 17 protein_coding, 5 retained_intron
ENST00000263433, ENST00000435544, ENST00000586197, ENST00000586992, ENST00000588277, ENST00000590268, ENST00000591938, ENST00000592754, ENST00000592993, ENST00000854894, ENST00000854895, ENST00000954565, ENST00000954566, ENST00000954567, ENST00000954568, ENST00000954569, ENST00000954570, ENST00000954571, ENST00000954572, ENST00000954573, ENST00000954574, ENST00000954575
RefSeq mRNA: 2 — MANE Select: NM_017607
NM_001271618, NM_017607
CCDS: CCDS12916
Canonical transcript exons
ENST00000263433 — 22 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000727609 | 55092222 | 55092326 |
| ENSE00001179723 | 55092442 | 55092544 |
| ENSE00001179730 | 55092622 | 55092662 |
| ENSE00001179739 | 55092783 | 55092868 |
| ENSE00001604696 | 55096051 | 55096178 |
| ENSE00001619648 | 55095291 | 55095358 |
| ENSE00001634664 | 55098784 | 55098858 |
| ENSE00001658714 | 55112665 | 55112795 |
| ENSE00001676777 | 55098951 | 55099095 |
| ENSE00001692594 | 55094661 | 55094798 |
| ENSE00001705472 | 55112467 | 55112585 |
| ENSE00001716256 | 55096262 | 55096335 |
| ENSE00001719402 | 55103409 | 55103568 |
| ENSE00001720308 | 55095867 | 55095940 |
| ENSE00001782919 | 55117223 | 55117637 |
| ENSE00001785260 | 55095445 | 55095603 |
| ENSE00003273739 | 55090918 | 55091558 |
| ENSE00003480371 | 55094345 | 55094435 |
| ENSE00003503949 | 55091650 | 55091700 |
| ENSE00003520759 | 55093153 | 55093233 |
| ENSE00003533964 | 55093016 | 55093076 |
| ENSE00003618424 | 55091859 | 55091909 |
Expression profiles
Bgee: expression breadth ubiquitous, 250 present calls, max score 99.23.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 10.9362 / max 431.3695, expressed in 1794 samples.
FANTOM5 promoters (5 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 182686 | 9.3072 | 1785 |
| 182685 | 1.1573 | 727 |
| 182684 | 0.2587 | 89 |
| 182683 | 0.1448 | 47 |
| 182682 | 0.0682 | 26 |
Top tissues by expression
255 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| lower esophagus | UBERON:0013473 | 99.23 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 99.23 | gold quality |
| mucosa of stomach | UBERON:0001199 | 99.21 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 99.18 | gold quality |
| body of uterus | UBERON:0009853 | 99.09 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 99.09 | gold quality |
| apex of heart | UBERON:0002098 | 99.04 | gold quality |
| left testis | UBERON:0004533 | 98.81 | gold quality |
| endocervix | UBERON:0000458 | 98.80 | gold quality |
| right testis | UBERON:0004534 | 98.79 | gold quality |
| left uterine tube | UBERON:0001303 | 98.78 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 98.67 | gold quality |
| popliteal artery | UBERON:0002250 | 98.59 | gold quality |
| tibial artery | UBERON:0007610 | 98.59 | gold quality |
| right coronary artery | UBERON:0001625 | 98.51 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 98.46 | gold quality |
| aorta | UBERON:0000947 | 98.41 | gold quality |
| ectocervix | UBERON:0012249 | 98.41 | gold quality |
| adenohypophysis | UBERON:0002196 | 98.39 | gold quality |
| right frontal lobe | UBERON:0002810 | 98.38 | gold quality |
| left coronary artery | UBERON:0001626 | 98.37 | gold quality |
| right atrium auricular region | UBERON:0006631 | 98.32 | gold quality |
| ascending aorta | UBERON:0001496 | 98.31 | gold quality |
| thoracic aorta | UBERON:0001515 | 98.28 | gold quality |
| granulocyte | CL:0000094 | 98.27 | gold quality |
| heart left ventricle | UBERON:0002084 | 98.25 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 98.17 | gold quality |
| cerebellar cortex | UBERON:0002129 | 98.15 | gold quality |
| metanephros cortex | UBERON:0010533 | 98.14 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 98.13 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 6.58 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
28 targeting PPP1R12C, 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-32-5P | 99.98 | 75.21 | 1964 |
| HSA-MIR-92A-3P | 99.98 | 75.21 | 1960 |
| HSA-MIR-92B-3P | 99.98 | 75.25 | 1955 |
| HSA-MIR-25-3P | 99.98 | 74.60 | 1817 |
| HSA-MIR-363-3P | 99.98 | 74.72 | 1821 |
| HSA-MIR-367-3P | 99.98 | 74.83 | 1819 |
| HSA-MIR-3121-3P | 99.82 | 71.96 | 3630 |
| HSA-MIR-3934-3P | 99.76 | 65.51 | 1351 |
| HSA-MIR-149-3P | 99.72 | 68.22 | 3963 |
| HSA-MIR-891B | 99.59 | 69.81 | 1083 |
| HSA-MIR-486-3P | 99.51 | 66.82 | 1901 |
| HSA-MIR-3191-3P | 99.45 | 63.94 | 356 |
| HSA-MIR-135A-5P | 99.36 | 71.85 | 1601 |
| HSA-MIR-135B-5P | 99.36 | 71.63 | 1613 |
| HSA-MIR-4999-5P | 99.35 | 69.15 | 926 |
| HSA-MIR-5589-3P | 99.29 | 68.30 | 1443 |
| HSA-MIR-196A-3P | 99.19 | 67.34 | 1204 |
| HSA-MIR-6852-5P | 99.17 | 66.69 | 2073 |
| HSA-MIR-6815-3P | 99.13 | 68.98 | 1530 |
| HSA-MIR-3688-5P | 99.12 | 69.67 | 1091 |
| HSA-MIR-6811-3P | 98.62 | 66.54 | 944 |
| HSA-MIR-6764-3P | 98.44 | 67.64 | 1153 |
| HSA-MIR-6824-3P | 98.44 | 67.62 | 1154 |
| HSA-MIR-6810-5P | 98.29 | 66.21 | 975 |
| HSA-MIR-4652-5P | 96.46 | 64.22 | 553 |
| HSA-MIR-668-3P | 96.18 | 65.80 | 673 |
| HSA-MIR-6805-5P | 95.79 | 64.86 | 670 |
| HSA-MIR-4281 | 92.91 | 63.60 | 271 |
Literature-anchored findings (GeneRIF, showing 3)
- M-RIP can assemble a complex containing both RhoA and Myosin phosphatase myosin binding subunit, suggesting that M-RIP may play a role in myosin phosphatase regulation by RhoA (PMID:14506264)
- Authors demonstrate that Rep proteins of adeno-associated virus serotype 2 efficiently repress expression from the target site PPP1R12C promoter. (PMID:24829354)
- PPP1R12C Promotes Atrial Hypocontractility in Atrial Fibrillation. (PMID:37737016)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | ppp1r12c | ENSDARG00000052423 |
| mus_musculus | Ppp1r12c | ENSMUSG00000019254 |
| rattus_norvegicus | Ppp1r12c | ENSRNOG00000053828 |
Paralogs (3): PPP1R12A (ENSG00000058272), PPP1R12B (ENSG00000077157), PPP1R27 (ENSG00000182676)
Protein
Protein identifiers
Protein phosphatase 1 regulatory subunit 12C — Q9BZL4 (reviewed: Q9BZL4)
Alternative names: Protein phosphatase 1 myosin-binding subunit of 85 kDa
All UniProt accessions (3): Q9BZL4, K7EL81, K7ER83
UniProt curated annotations — full annotation on UniProt →
Function. Regulates myosin phosphatase activity.
Subunit / interactions. PP1 comprises a catalytic subunit, PPP1CA, PPP1CB or PPP1CC, and one or several targeting or regulatory subunits. PPP1R12C mediates binding to myosin. Interacts via its N-terminus with PPP1CB. Interacts with IL16. Interacts with the coiled-coil domain of MPRIP. Interacts with NOD2.
Subcellular location. Cytoplasm. Cytoskeleton. Stress fiber.
Tissue specificity. Ubiquitously expressed. Highly expressed in heart.
Post-translational modifications. Phosphorylation at Thr-560 is essential for its interaction with PPP1CB.
Isoforms (5)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9BZL4-1 | 1 | yes |
| Q9BZL4-2 | 2 | |
| Q9BZL4-3 | 3 | |
| Q9BZL4-4 | 4 | |
| Q9BZL4-5 | 5 |
RefSeq proteins (2): NP_001258547, NP_060077* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR002110 | Ankyrin_rpt | Repeat |
| IPR017401 | MYPT1/MYPT2/Mbs85 | Family |
| IPR031775 | PRKG1_interact | Domain |
| IPR036770 | Ankyrin_rpt-contain_sf | Homologous_superfamily |
| IPR051226 | PP1_Regulatory_Subunit | Family |
Pfam: PF12796, PF15898
UniProt features (37 total): compositionally biased region 9, modified residue 9, splice variant 5, repeat 4, sequence conflict 3, region of interest 2, coiled-coil region 2, initiator methionine 1, chain 1, sequence variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9BZL4-F1 | 66.74 | 0.34 |
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 (9): 2, 399, 407, 427, 452, 509, 560, 604, 647
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 113 (showing top):
GGGACCA_MIR133A_MIR133B, AAGCCAT_MIR135A_MIR135B, GOBP_NEUROGENESIS, CREBP1_Q2, RACCACAR_AML_Q6, AML_Q6, IRF1_Q6, TGIF_01, GOBP_CELL_PROJECTION_ORGANIZATION, MARIADASON_REGULATED_BY_HISTONE_ACETYLATION_UP, DANG_BOUND_BY_MYC, GINESTIER_BREAST_CANCER_ZNF217_AMPLIFIED_DN, GOCC_ACTIN_FILAMENT_BUNDLE, GOCC_ACTOMYOSIN, OSF2_Q6
GO Biological Process (2): signal transduction (GO:0007165), neuron projection morphogenesis (GO:0048812)
GO Molecular Function (5): enzyme inhibitor activity (GO:0004857), myosin phosphatase regulator activity (GO:0017020), protein kinase binding (GO:0019901), protein binding (GO:0005515), phosphatase regulator activity (GO:0019208)
GO Cellular Component (3): stress fiber (GO:0001725), cytoplasm (GO:0005737), cytoskeleton (GO:0005856)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| enzyme regulator activity | 2 |
| cell communication | 1 |
| cellular process | 1 |
| signaling | 1 |
| regulation of cellular process | 1 |
| cellular response to stimulus | 1 |
| neuron projection development | 1 |
| plasma membrane bounded cell projection morphogenesis | 1 |
| catalytic activity | 1 |
| molecular function inhibitor activity | 1 |
| myosin phosphatase activity | 1 |
| protein phosphatase regulator activity | 1 |
| kinase binding | 1 |
| binding | 1 |
| phosphatase activity | 1 |
| phosphatase binding | 1 |
| actomyosin | 1 |
| contractile actin filament bundle | 1 |
| intracellular anatomical structure | 1 |
| cellular anatomical structure | 1 |
| intracellular membraneless organelle | 1 |
Protein interactions and networks
STRING
2608 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| PPP1R12C | PIK3CG | P48736 | 991 |
| PPP1R12C | MYL9 | P24844 | 884 |
| PPP1R12C | IMMT | Q16891 | 847 |
| PPP1R12C | PPP1CB | P37140 | 826 |
| PPP1R12C | PIK3CD | O00329 | 822 |
| PPP1R12C | PIK3R5 | Q8WYR1 | 774 |
| PPP1R12C | CDC42BPA | Q5VT25 | 700 |
| PPP1R12C | PIK3CB | P42338 | 679 |
| PPP1R12C | PIK3CA | P42336 | 552 |
| PPP1R12C | MYL12B | O14950 | 536 |
| PPP1R12C | MYL7 | Q01449 | 519 |
| PPP1R12C | CLYBL | Q8N0X4 | 509 |
| PPP1R12C | PPP1R14A | Q96A00 | 506 |
| PPP1R12C | RNF112 | Q9ULX5 | 505 |
| PPP1R12C | EMX1 | Q04741 | 482 |
IntAct
92 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| PPP1CB | CCDC85C | psi-mi:“MI:0914”(association) | 0.750 |
| PPP1CB | CCDC85C | psi-mi:“MI:2364”(proximity) | 0.750 |
| NUAK2 | PPP1R12A | psi-mi:“MI:0914”(association) | 0.640 |
| VAPA | FAM83G | psi-mi:“MI:0914”(association) | 0.640 |
| TNKS2 | PPP1R12C | psi-mi:“MI:0915”(physical association) | 0.590 |
| TNKS2 | PPP1R12C | psi-mi:“MI:0407”(direct interaction) | 0.590 |
| SPECC1L | PPP1R12C | psi-mi:“MI:0915”(physical association) | 0.560 |
| PPP1R12C | IMP3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| EHHADH | PPP1R12C | psi-mi:“MI:0915”(physical association) | 0.560 |
| PPP1R12C | ATP6V1H | psi-mi:“MI:0915”(physical association) | 0.560 |
| BHLHA9 | PPP1R12C | psi-mi:“MI:0915”(physical association) | 0.560 |
| RBM17 | PPP1R12C | psi-mi:“MI:0915”(physical association) | 0.560 |
| EXOC3 | PPP1R12C | psi-mi:“MI:0915”(physical association) | 0.560 |
| CCDC185 | PPP1R12C | psi-mi:“MI:0915”(physical association) | 0.560 |
| THOC1 | PPP1R12C | psi-mi:“MI:0915”(physical association) | 0.560 |
| PPP1R12C | AIRIM | psi-mi:“MI:0915”(physical association) | 0.560 |
| PPP1R12C | NXF1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| USHBP1 | PPP1R12C | psi-mi:“MI:0915”(physical association) | 0.560 |
| NOD2 | PPP1R12C | psi-mi:“MI:0915”(physical association) | 0.550 |
| NOD2 | PPP1R12C | psi-mi:“MI:2364”(proximity) | 0.550 |
| PPP1R12C | NOD2 | psi-mi:“MI:0915”(physical association) | 0.550 |
| JPH4 | ZSWIM8 | psi-mi:“MI:0914”(association) | 0.530 |
| SMAD3 | PPP1R12C | psi-mi:“MI:0915”(physical association) | 0.510 |
| PPP1R12C | SMAD3 | psi-mi:“MI:0915”(physical association) | 0.510 |
| TSFM | PPP1R12C | psi-mi:“MI:0915”(physical association) | 0.490 |
BioGRID (76): PPP1R12C (Two-hybrid), C1orf109 (Two-hybrid), RBM17 (Two-hybrid), PPP1R12C (Affinity Capture-MS), PPP1R12C (Affinity Capture-MS), PPP1R12C (Affinity Capture-MS), PPP1R12C (Affinity Capture-MS), PPP1R12C (Two-hybrid), PPP1R12C (Affinity Capture-MS), PPP1R12C (Affinity Capture-MS), PPP1R12C (Affinity Capture-MS), PPP1R12C (Two-hybrid), PPP1R12C (Affinity Capture-Western), PPP1R12C (Affinity Capture-MS), PPP1R12C (Affinity Capture-MS)
ESM2 similar proteins: A0A0U1RR37, A1L170, A1L1I3, A1L260, A2AMM0, A4IFJ0, B5G1P1, D3ZQL6, E7F5E1, G5BQH4, O08919, O54724, O60237, O75420, P06759, P33622, P53814, P85125, Q2KI85, Q2TAL5, Q3T044, Q3UMT1, Q4RTJ5, Q4V882, Q5I1X5, Q5U2R6, Q63312, Q6NZI2, Q75AS0, Q80VC9, Q8BG95, Q8BGT6, Q8C0J6, Q8CI12, Q8IV56, Q8K382, Q8N3F8, Q8TEH3, Q8WUF5, Q91VJ2
Diamond homologs: A0A0R4IQZ2, A2AS55, A4II29, B4E2M5, C7B178, G0LXV8, L7X8P2, L7XCU0, L7XDS4, P0C0T2, P0C550, P0DJE3, P19838, P23631, P39010, Q04749, Q04861, Q0JKV1, Q10728, Q18297, Q28C34, Q337A0, Q38998, Q3SX00, Q3UMT1, Q3UX43, Q499M5, Q4JHE0, Q5H9F3, Q5R8C8, Q5U5A6, Q63369, Q68DC2, Q6FJ70, Q6GQX6, Q6NRD0, Q6NY19, Q6P6B7, Q6P9J5, Q6ZVH7
SIGNOR signaling
3 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| PRKAA2 | down-regulates | PPP1R12C | phosphorylation |
| AMPK | down-regulates | PPP1R12C | phosphorylation |
| CDC42BPA | “down-regulates activity” | PPP1R12C | phosphorylation |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 65 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 |
|---|---|---|---|
| SARS-CoV-1 targets host intracellular signalling and regulatory pathways | 7 | 102.2× | 4e-11 |
| Activation of BAD and translocation to mitochondria | 6 | 99.3× | 1e-09 |
| Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex | 6 | 87.6× | 3e-09 |
| Activation of BH3-only proteins | 6 | 64.8× | 2e-08 |
| RHO GTPases activate PKNs | 9 | 62.1× | 4e-12 |
| FOXO-mediated transcription | 6 | 43.8× | 2e-07 |
| Intrinsic Pathway for Apoptosis | 6 | 38.2× | 3e-07 |
| SARS-CoV-1-host interactions | 7 | 26.7× | 2e-07 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| intracellular protein localization | 6 | 11.2× | 2e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
153 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 110 |
| Likely benign | 13 |
| Benign | 3 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
3139 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 19:55091556:GGCC:G | acceptor_loss | 1.0000 |
| 19:55091558:CCTG:C | acceptor_loss | 1.0000 |
| 19:55091559:C:CC | acceptor_gain | 1.0000 |
| 19:55091644:CCCCA:C | donor_loss | 1.0000 |
| 19:55091645:CCCA:C | donor_loss | 1.0000 |
| 19:55091646:CCA:C | donor_loss | 1.0000 |
| 19:55091647:CACCT:C | donor_loss | 1.0000 |
| 19:55091649:C:A | donor_loss | 1.0000 |
| 19:55091660:T:TA | donor_gain | 1.0000 |
| 19:55091698:CTC:C | acceptor_gain | 1.0000 |
| 19:55091699:TCC:T | acceptor_loss | 1.0000 |
| 19:55091701:C:CC | acceptor_gain | 1.0000 |
| 19:55091702:T:A | acceptor_loss | 1.0000 |
| 19:55091706:A:AC | acceptor_gain | 1.0000 |
| 19:55091706:A:C | acceptor_gain | 1.0000 |
| 19:55091853:A:AC | donor_gain | 1.0000 |
| 19:55091854:C:CC | donor_gain | 1.0000 |
| 19:55091854:CTCA:C | donor_gain | 1.0000 |
| 19:55091855:TCA:T | donor_loss | 1.0000 |
| 19:55091856:CACG:C | donor_loss | 1.0000 |
| 19:55091857:A:AC | donor_gain | 1.0000 |
| 19:55091857:AC:A | donor_loss | 1.0000 |
| 19:55091858:C:A | donor_loss | 1.0000 |
| 19:55091858:C:CC | donor_gain | 1.0000 |
| 19:55091858:CG:C | donor_gain | 1.0000 |
| 19:55091858:CGA:C | donor_gain | 1.0000 |
| 19:55091858:CGAA:C | donor_gain | 1.0000 |
| 19:55091858:CGAAT:C | donor_gain | 1.0000 |
| 19:55091862:T:C | donor_gain | 1.0000 |
| 19:55091910:C:CC | acceptor_gain | 1.0000 |
AlphaMissense
4998 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 19:55099046:A:G | W261R | 1.000 |
| 19:55099046:A:T | W261R | 1.000 |
| 19:55112714:A:G | W135R | 1.000 |
| 19:55112714:A:T | W135R | 1.000 |
| 19:55091482:A:G | L780P | 0.999 |
| 19:55091524:A:G | L766P | 0.999 |
| 19:55099044:C:A | W261C | 0.999 |
| 19:55099044:C:G | W261C | 0.999 |
| 19:55103436:G:T | A235D | 0.999 |
| 19:55103439:G:T | A234D | 0.999 |
| 19:55112546:G:C | N164K | 0.999 |
| 19:55112546:G:T | N164K | 0.999 |
| 19:55112580:A:G | L153P | 0.999 |
| 19:55112712:C:A | W135C | 0.999 |
| 19:55112712:C:G | W135C | 0.999 |
| 19:55112725:T:A | D131V | 0.999 |
| 19:55112726:C:G | D131H | 0.999 |
| 19:55112758:A:G | L120S | 0.999 |
| 19:55112788:A:T | I110N | 0.999 |
| 19:55112790:G:C | C109W | 0.999 |
| 19:55112791:C:T | C109Y | 0.999 |
| 19:55112792:A:G | C109R | 0.999 |
| 19:55117235:G:C | S103R | 0.999 |
| 19:55117235:G:T | S103R | 0.999 |
| 19:55117237:T:G | S103R | 0.999 |
| 19:55117239:A:G | I102T | 0.999 |
| 19:55117242:C:A | G101V | 0.999 |
| 19:55117245:T:A | D100V | 0.999 |
| 19:55117250:G:C | N98K | 0.999 |
| 19:55117250:G:T | N98K | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000026995 (19:55113539 G>A,T), RS1000058284 (19:55113346 T>C,G), RS1000136581 (19:55107462 T>A,C), RS1000159342 (19:55092011 C>T), RS1000375481 (19:55118789 A>C), RS1000449381 (19:55099095 C>G,T), RS1000487726 (19:55107163 C>T), RS1000495902 (19:55108865 C>G), RS1000531878 (19:55117560 C>A,T), RS1000883575 (19:55098704 G>A,C,T), RS1000899492 (19:55095532 G>A,C), RS1000966341 (19:55117280 C>G,T), RS1001109406 (19:55116828 G>A,C), RS1001195589 (19:55108368 C>T), RS1001259831 (19:55107689 G>A)
Disease associations
OMIM: gene MIM:613245 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
0 associations (top):
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 |
|---|---|---|
| sodium arsenite | increases expression | 2 |
| Air Pollutants | affects expression, increases abundance, increases expression | 2 |
| Benzo(a)pyrene | increases mutagenesis, decreases methylation | 2 |
| Valproic Acid | decreases expression, increases expression | 2 |
| Particulate Matter | increases abundance, increases expression | 2 |
| aristolochic acid I | increases expression | 1 |
| FR900359 | increases phosphorylation | 1 |
| triphenyl phosphate | affects expression | 1 |
| bisphenol A | affects cotreatment, increases methylation | 1 |
| arsenite | affects binding, decreases reaction | 1 |
| cobaltous chloride | decreases expression | 1 |
| perfluorooctanoic acid | decreases expression | 1 |
| coumarin | affects phosphorylation | 1 |
| perfluorooctane sulfonic acid | decreases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| perfluoro-n-nonanoic acid | decreases expression | 1 |
| K 7174 | increases expression | 1 |
| Sunitinib | increases expression | 1 |
| Fulvestrant | affects cotreatment, increases methylation | 1 |
| Atrazine | decreases expression | 1 |
| Vehicle Emissions | increases abundance, increases expression | 1 |
| Caffeine | decreases phosphorylation | 1 |
| Doxorubicin | decreases expression | 1 |
| Ozone | affects expression, increases abundance | 1 |
| Smoke | decreases expression | 1 |
| Thiram | increases expression | 1 |
| Urethane | increases expression | 1 |
| Asbestos, Serpentine | decreases methylation | 1 |
| Okadaic Acid | increases expression | 1 |
Cellosaurus cell lines
4 cell lines: 4 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_TF56 | HAP1 PPP1R12C (-) 1 | Cancer cell line | Male |
| CVCL_TF57 | HAP1 PPP1R12C (-) 2 | Cancer cell line | Male |
| CVCL_TF58 | HAP1 PPP1R12C (-) 3 | Cancer cell line | Male |
| CVCL_TF59 | HAP1 PPP1R12C (-) 4 | 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.