PPP1R12B
gene geneOn this page
Also known as M20MGC87886MGC131980PP1bp55
Summary
PPP1R12B (protein phosphatase 1 regulatory subunit 12B, HGNC:7619) is a protein-coding gene on chromosome 1q32.1, encoding Protein phosphatase 1 regulatory subunit 12B (O60237). Regulates myosin phosphatase activity.
Myosin phosphatase is a protein complex comprised of three subunits: a catalytic subunit (PP1c-delta, protein phosphatase 1, catalytic subunit delta), a large regulatory subunit (MYPT, myosin phosphatase target) and small regulatory subunit (sm-M20). Two isoforms of MYPT have been isolated–MYPT1 and MYPT2, the first of which is widely expressed, and the second of which may be specific to heart, skeletal muscle, and brain. Each of the MYPT isoforms functions to bind PP1c-delta and increase phosphatase activity. This locus encodes both MYTP2 and M20. Alternatively spliced transcript variants encoding different isoforms have been identified. Related pseudogenes have been defined on the Y chromosome.
Source: NCBI Gene 4660 — RefSeq curated summary.
At a glance
- GWAS associations: 5
- Clinical variants (ClinVar): 170 total
- MANE Select transcript:
NM_002481
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:7619 |
| Approved symbol | PPP1R12B |
| Name | protein phosphatase 1 regulatory subunit 12B |
| Location | 1q32.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | M20, MGC87886, MGC131980, PP1bp55 |
| Ensembl gene | ENSG00000077157 |
| Ensembl biotype | protein_coding |
| OMIM | 603768 |
| Entrez | 4660 |
Gene structure
Transcript identifiers
Ensembl transcripts: 22 — 12 protein_coding, 4 protein_coding_CDS_not_defined, 3 retained_intron, 3 nonsense_mediated_decay
ENST00000290419, ENST00000356764, ENST00000367269, ENST00000391959, ENST00000434615, ENST00000462074, ENST00000464965, ENST00000465284, ENST00000466273, ENST00000466968, ENST00000476364, ENST00000480184, ENST00000488330, ENST00000491336, ENST00000498070, ENST00000608999, ENST00000618451, ENST00000634903, ENST00000704899, ENST00000969198, ENST00000969199, ENST00000969200
RefSeq mRNA: 8 — MANE Select: NM_002481
NM_001167857, NM_001167858, NM_001197131, NM_001331029, NM_001410283, NM_002481, NM_032103, NM_032104
CCDS: CCDS1426, CCDS30973, CCDS44294, CCDS44295, CCDS53458, CCDS53459, CCDS73005, CCDS81416
Canonical transcript exons
ENST00000608999 — 24 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001895027 | 202348699 | 202349142 |
| ENSE00002252595 | 202440706 | 202440788 |
| ENSE00002263309 | 202422620 | 202422738 |
| ENSE00002277899 | 202437821 | 202438024 |
| ENSE00002292127 | 202442447 | 202442572 |
| ENSE00002318911 | 202416787 | 202416917 |
| ENSE00003458446 | 202493114 | 202493317 |
| ENSE00003475535 | 202428855 | 202428929 |
| ENSE00003501572 | 202495293 | 202495482 |
| ENSE00003537086 | 202495570 | 202495682 |
| ENSE00003549601 | 202448989 | 202449171 |
| ENSE00003550736 | 202564443 | 202564547 |
| ENSE00003554338 | 202434656 | 202434768 |
| ENSE00003563501 | 202567778 | 202567831 |
| ENSE00003573458 | 202430731 | 202430810 |
| ENSE00003574578 | 202562778 | 202562922 |
| ENSE00003593853 | 202496781 | 202496822 |
| ENSE00003631092 | 202569147 | 202569197 |
| ENSE00003653455 | 202431480 | 202431619 |
| ENSE00003664118 | 202425566 | 202425725 |
| ENSE00003674642 | 202558877 | 202558893 |
| ENSE00003690761 | 202427040 | 202427184 |
| ENSE00003692978 | 202488533 | 202488623 |
| ENSE00003846276 | 202580474 | 202592702 |
Expression profiles
Bgee: expression breadth ubiquitous, 285 present calls, max score 99.07.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 11.7974 / max 720.2219, expressed in 1629 samples.
FANTOM5 promoters (17 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 7798 | 6.6539 | 1485 |
| 7816 | 1.4521 | 170 |
| 7815 | 1.2590 | 240 |
| 7800 | 0.9827 | 478 |
| 7809 | 0.2115 | 25 |
| 7803 | 0.1957 | 85 |
| 7805 | 0.1926 | 54 |
| 7801 | 0.1853 | 93 |
| 7812 | 0.1598 | 29 |
| 7810 | 0.1038 | 21 |
Top tissues by expression
298 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| saphenous vein | UBERON:0007318 | 99.07 | gold quality |
| blood vessel layer | UBERON:0004797 | 98.97 | gold quality |
| left ventricle myocardium | UBERON:0006566 | 98.74 | gold quality |
| right coronary artery | UBERON:0001625 | 98.68 | gold quality |
| cardiac muscle of right atrium | UBERON:0003379 | 98.52 | gold quality |
| myocardium | UBERON:0002349 | 98.37 | gold quality |
| heart right ventricle | UBERON:0002080 | 98.25 | gold quality |
| popliteal artery | UBERON:0002250 | 98.24 | gold quality |
| tibial artery | UBERON:0007610 | 98.23 | gold quality |
| aorta | UBERON:0000947 | 98.15 | gold quality |
| artery | UBERON:0001637 | 98.08 | gold quality |
| thoracic aorta | UBERON:0001515 | 98.04 | gold quality |
| cauda epididymis | UBERON:0004360 | 98.04 | gold quality |
| ascending aorta | UBERON:0001496 | 98.02 | gold quality |
| body of uterus | UBERON:0009853 | 97.96 | gold quality |
| colonic epithelium | UBERON:0000397 | 97.85 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 97.82 | gold quality |
| mucosa of stomach | UBERON:0001199 | 97.80 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 97.68 | gold quality |
| seminal vesicle | UBERON:0000998 | 97.67 | gold quality |
| lower esophagus | UBERON:0013473 | 97.62 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 97.61 | gold quality |
| cardiac atrium | UBERON:0002081 | 97.44 | gold quality |
| gall bladder | UBERON:0002110 | 97.35 | gold quality |
| right atrium auricular region | UBERON:0006631 | 97.32 | gold quality |
| heart | UBERON:0000948 | 97.18 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 97.10 | gold quality |
| coronary artery | UBERON:0001621 | 97.07 | gold quality |
| cardiac ventricle | UBERON:0002082 | 97.05 | gold quality |
| myometrium | UBERON:0001296 | 97.01 | gold quality |
Single-cell (SCXA)
Detected in 5 experiment(s), a significant marker in 4.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-10287 | yes | 48.70 |
| E-MTAB-8410 | yes | 22.37 |
| E-ANND-3 | yes | 11.98 |
| E-CURD-119 | yes | 10.65 |
| E-MTAB-6142 | no | 69.70 |
Regulation
Is transcription factor: no
Literature-anchored findings (GeneRIF, showing 7)
- Results describe the characterization and function of MYPT2, a target subunit of myosin phosphatase in heart. (PMID:16431080)
- analysis of the interaction between the coiled coil leucine zipper of cGMP-dependent protein kinase Ialpha and the C terminus of the myosin binding subunit of the myosin light chain phosphatase (PMID:18782776)
- PPP1R12B is associated with childhood asthma in a Russian population. (PMID:23640410)
- PEAK1-PPP1R12B axis inhibits colorectal tumorigenesis and metastasis through deactivation of the Grb2/PI3K/Akt pathway. (PMID:30472186)
- MicroRNA-4463 facilitates the development of colon cancer by suppression of the expression of PPP1R12B. (PMID:35064454)
- FAT10 differentially stabilizes MYPT2 isoforms. (PMID:37506472)
- Revealing PPP1R12B and COL1A1 as piRNA pathway genes contributing to abdominal aortic aneurysm through integrated analysis and experimental validation. (PMID:38070790)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Ppp1r12b | ENSMUSG00000073557 |
| rattus_norvegicus | Ppp1r12b | ENSRNOG00000051440 |
| drosophila_melanogaster | Mbs | FBGN0005536 |
| caenorhabditis_elegans | WBGENE00003196 |
Paralogs (3): PPP1R12A (ENSG00000058272), PPP1R12C (ENSG00000125503), PPP1R27 (ENSG00000182676)
Protein
Protein identifiers
Protein phosphatase 1 regulatory subunit 12B — O60237 (reviewed: O60237)
Alternative names: Myosin phosphatase-targeting subunit 2
All UniProt accessions (7): O60237, A0A0U1RQI8, A0A0U1RQP2, A0A994J7P4, E1CKY7, H7C4R6, Q6GQY8
UniProt curated annotations — full annotation on UniProt →
Function. Regulates myosin phosphatase activity. Augments Ca(2+) sensitivity of the contractile apparatus.
Subunit / interactions. PP1 comprises a catalytic subunit, PPP1CA, PPP1CB or PPP1CC, and one or several targeting or regulatory subunits. PPP1R12B mediates binding to myosin. Isoform 3 and isoform 4 bind PPP1R12A, but not isoform 1 of PPP1R12B itself. Binds IL16.
Subcellular location. Cytoplasm. Cytoskeleton. Stress fiber.
Tissue specificity. Detected in skeletal muscle, fetal and adult heart, brain, placenta, kidney, spleen, thymus, pancreas and lung. Isoform 3 and isoform 4 are heart specific.
Miscellaneous. Produced by alternative promoter usage. Produced by alternative splicing of isoform 1. Produced by alternative splicing of isoform 4. Produced by alternative promoter usage.
Isoforms (6)
| UniProt ID | Names | Canonical? |
|---|---|---|
| O60237-1 | 1 | yes |
| O60237-2 | 2 | |
| O60237-3 | 3, hHS-M21B, Heart-specific myosin light chain phosphatase small subunit B | |
| O60237-4 | 4, hHS-M21A, Heart-specific myosin light chain phosphatase small subunit A | |
| O60237-5 | 5 | |
| O60237-6 | 6 |
RefSeq proteins (8): NP_001161329, NP_001161330, NP_001184060, NP_001317958, NP_001397212, NP_002472, NP_115286, NP_115287 (=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
Enzyme classification (BRENDA):
- EC 3.1.3.53 — [myosin-light-chain] phosphatase (BRENDA: 14 organisms, 76 substrates, 62 inhibitors, 13 Km, 0 kcat entries)
Substrate kinetics (BRENDA)
5 substrates with measured Km, best-characterized 5. Km ranges are aggregated across organisms/conditions.
| Substrate | Km (mM) | Measurements |
|---|---|---|
| MYOSIN LIGHT-CHAIN PHOSPHATE | 0.001–0.0112 | 6 |
| MYOSIN LIGHT-CHAIN | 0.0015–0.05 | 3 |
| PHOSPHORYLATED MYOSIN | 0.0004–0.0024 | 2 |
| HEAVY MEROMYOSIN | 0.0059 | 1 |
| [MYOSIN LIGHT-CHAIN] PHOSPHATE | 0.01 | 1 |
UniProt features (44 total): compositionally biased region 18, splice variant 7, modified residue 6, repeat 5, region of interest 5, sequence variant 2, chain 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-O60237-F1 | 62.37 | 0.29 |
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): 29, 445, 646, 808, 839, 947
Function
Pathways and Gene Ontology
Reactome pathways
9 pathways
| ID | Pathway |
|---|---|
| R-HSA-5625740 | RHO GTPases activate PKNs |
| R-HSA-5625900 | RHO GTPases activate CIT |
| R-HSA-5627117 | RHO GTPases Activate ROCKs |
| R-HSA-5627123 | RHO GTPases activate PAKs |
| R-HSA-2565942 | Regulation of PLK1 Activity at G2/M Transition |
| R-HSA-162582 | Signal Transduction |
| R-HSA-194315 | Signaling by Rho GTPases |
| R-HSA-195258 | RHO GTPase Effectors |
| R-HSA-9716542 | Signaling by Rho GTPases, Miro GTPases and RHOBTB3 |
MSigDB gene sets: 233 (showing top):
BIOCARTA_RHO_PATHWAY, GSE18804_SPLEEN_MACROPHAGE_VS_COLON_TUMORAL_MACROPHAGE_DN, ACTACCT_MIR196A_MIR196B, MORF_MSH3, MORF_BRCA1, THEILGAARD_NEUTROPHIL_AT_SKIN_WOUND_DN, GOBP_NEUROGENESIS, MODULE_329, TOMLINS_PROSTATE_CANCER_DN, CHANDRAN_METASTASIS_DN, STOSSI_RESPONSE_TO_ESTRADIOL, YY1_Q6, MORF_RAD51L3, MONNIER_POSTRADIATION_TUMOR_ESCAPE_UP, GOBP_REGULATION_OF_MUSCLE_CONTRACTION
GO Biological Process (3): regulation of muscle contraction (GO:0006937), signal transduction (GO:0007165), neuron projection morphogenesis (GO:0048812)
GO Molecular Function (6): enzyme inhibitor activity (GO:0004857), enzyme activator activity (GO:0008047), myosin phosphatase regulator activity (GO:0017020), protein kinase binding (GO:0019901), protein binding (GO:0005515), phosphatase regulator activity (GO:0019208)
GO Cellular Component (7): stress fiber (GO:0001725), nucleoplasm (GO:0005654), cytoplasm (GO:0005737), cytosol (GO:0005829), Z disc (GO:0030018), A band (GO:0031672), cytoskeleton (GO:0005856)
Reactome top-level categories
Rollup of top-5 pathways:
| Category | Pathways |
|---|---|
| RHO GTPase Effectors | 4 |
| G2/M Transition | 1 |
| Signaling by Rho GTPases, Miro GTPases and RHOBTB3 | 1 |
| Signaling by Rho GTPases | 1 |
| Signal Transduction | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 5 |
| enzyme regulator activity | 3 |
| catalytic activity | 2 |
| muscle contraction | 1 |
| regulation of muscle system process | 1 |
| 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 |
| molecular function inhibitor activity | 1 |
| molecular function activator 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 |
| nuclear lumen | 1 |
| intracellular anatomical structure | 1 |
| cytoplasm | 1 |
| I band | 1 |
| sarcomere | 1 |
| intracellular membraneless organelle | 1 |
Protein interactions and networks
STRING
1634 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| PPP1R12B | PPP1CB | P37140 | 860 |
| PPP1R12B | FKBP8 | Q14318 | 547 |
| PPP1R12B | PPP1CC | P36873 | 531 |
| PPP1R12B | ACTG2 | P12718 | 491 |
| PPP1R12B | MYH11 | P35749 | 490 |
| PPP1R12B | PPP1R26 | Q5T8A7 | 458 |
| PPP1R12B | RPSA | P08865 | 457 |
| PPP1R12B | PPP1R16B | Q96T49 | 454 |
| PPP1R12B | PPP1R12C | Q9BZL4 | 453 |
| PPP1R12B | MYLK3 | Q32MK0 | 452 |
| PPP1R12B | PPP1R14A | Q96A00 | 446 |
| PPP1R12B | MYLK | Q15746 | 441 |
| PPP1R12B | MYL9 | P24844 | 437 |
| PPP1R12B | USP9X | Q93008 | 391 |
| PPP1R12B | ZNF157 | P51786 | 381 |
IntAct
38 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 |
| FKBP6 | EEF2K | psi-mi:“MI:0914”(association) | 0.530 |
| PPP1R12A | PPP1R12B | psi-mi:“MI:2364”(proximity) | 0.420 |
| Cep72 | psi-mi:“MI:0915”(physical association) | 0.400 | |
| PCNA | PPP1R12B | psi-mi:“MI:0915”(physical association) | 0.370 |
| Ppp1cb | MYO1C | psi-mi:“MI:0914”(association) | 0.350 |
| MYH9 | PLEKHG3 | psi-mi:“MI:0914”(association) | 0.350 |
| ANLN | PLEKHG3 | psi-mi:“MI:0914”(association) | 0.350 |
| MYO18A | PLEKHG3 | psi-mi:“MI:0914”(association) | 0.350 |
| MYO19 | PLEKHG3 | psi-mi:“MI:0914”(association) | 0.350 |
| Actb | psi-mi:“MI:0914”(association) | 0.350 | |
| SYNPO | LMO7 | psi-mi:“MI:0914”(association) | 0.350 |
| Myh9 | PLEKHG3 | psi-mi:“MI:0914”(association) | 0.350 |
| Myo1c | PLEKHG3 | psi-mi:“MI:0914”(association) | 0.350 |
| Myh9 | GOSR1 | psi-mi:“MI:0914”(association) | 0.350 |
| MYH9 | NAP1L1 | psi-mi:“MI:0914”(association) | 0.350 |
| Myh10 | NAP1L1 | psi-mi:“MI:0914”(association) | 0.350 |
| IQGAP1 | PLEKHG3 | psi-mi:“MI:0914”(association) | 0.350 |
| CD14 | PHF20L1 | psi-mi:“MI:0914”(association) | 0.350 |
| PPP1CB | PLEKHG3 | psi-mi:“MI:0914”(association) | 0.350 |
| PPP1R12A | TRDMT1 | psi-mi:“MI:0914”(association) | 0.350 |
| ESR1 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| COPS6 | DDX3X | psi-mi:“MI:0914”(association) | 0.350 |
| rep | ABLIM1 | psi-mi:“MI:0914”(association) | 0.350 |
| ZBTB18 | DNASE1L1 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (89): PPP1R12B (Affinity Capture-MS), SKP1 (Co-fractionation), PPP1R12B (Two-hybrid), PPP1R12B (Affinity Capture-Luminescence), PPP1R12B (Affinity Capture-MS), PPP1R12B (Affinity Capture-MS), PPP1R12B (Affinity Capture-MS), PPP1R12B (Affinity Capture-MS), PPP1R12B (Affinity Capture-MS), PPP1R12B (Affinity Capture-MS), PPP1R12B (Affinity Capture-MS), PPP1R12B (Affinity Capture-MS), PPP1R12B (Affinity Capture-MS), PPP1R12B (Affinity Capture-MS), PPP1R12B (Affinity Capture-MS)
ESM2 similar proteins: A0A0R4IZ84, A0A1L8H8C0, A0A1L8HFX9, A2RUV4, F1LP90, F5HSE3, O43310, O60237, O75167, O88453, P41110, P61406, Q12830, Q1LVF3, Q2HJG4, Q2PFD7, Q3TLH4, Q5RAK6, Q5ZMS6, Q66HC1, Q6A0A2, Q6NRP6, Q6NZL0, Q6P1U3, Q6PKG0, Q75N33, Q7TN02, Q7TPM1, Q7YZA2, Q7Z6E9, Q80TN7, Q80XI3, Q86UR5, Q86US8, Q8IVL0, Q8IVL1, Q8K0V4, Q8N4C8, Q90YL3, Q90YY5
Diamond homologs: A2AQH4, O14974, O60237, Q10728, Q3UMT1, Q6DRG7, Q8BG95, Q90623, Q923M0, Q96I34, Q9BZL4, Q9DBR7, Q8VHQ3, Q95N27, Q96T49, A4II29, B2RR83, G3I6Z6, O00522, O13987, P46531, P83757, Q01705, Q02979, Q03017, Q07008, Q0VC93, Q18297, Q1RJ94, Q28FJ2, Q337A0, Q3SX00, Q3UES3, Q3V096, Q4FE45, Q4JHE0, Q5H9F3, Q5I1X5, Q5R746, Q5R8C8
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| ROCK1 | down-regulates | PPP1R12B | phosphorylation |
Disease & clinical
Clinical variants and AI predictions
ClinVar
170 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 121 |
| Likely benign | 8 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
5822 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 1:202416781:TTTCA:T | acceptor_loss | 1.0000 |
| 1:202416782:TTCA:T | acceptor_loss | 1.0000 |
| 1:202416783:TCA:T | acceptor_loss | 1.0000 |
| 1:202416784:CAG:C | acceptor_loss | 1.0000 |
| 1:202416785:A:AC | acceptor_loss | 1.0000 |
| 1:202416785:A:AG | acceptor_gain | 1.0000 |
| 1:202416785:AG:A | acceptor_gain | 1.0000 |
| 1:202416786:G:GG | acceptor_gain | 1.0000 |
| 1:202416786:G:GT | acceptor_loss | 1.0000 |
| 1:202416786:GG:G | acceptor_gain | 1.0000 |
| 1:202416786:GGC:G | acceptor_gain | 1.0000 |
| 1:202416786:GGCA:G | acceptor_gain | 1.0000 |
| 1:202416786:GGCAT:G | acceptor_gain | 1.0000 |
| 1:202416913:GCAGA:G | donor_gain | 1.0000 |
| 1:202416916:GA:G | donor_gain | 1.0000 |
| 1:202416916:GAGT:G | donor_loss | 1.0000 |
| 1:202416917:AGT:A | donor_loss | 1.0000 |
| 1:202416918:GTGA:G | donor_gain | 1.0000 |
| 1:202416919:TGA:T | donor_gain | 1.0000 |
| 1:202416920:GA:G | donor_gain | 1.0000 |
| 1:202416920:GAG:G | donor_gain | 1.0000 |
| 1:202416922:G:GG | donor_gain | 1.0000 |
| 1:202422734:GCAAG:G | donor_gain | 1.0000 |
| 1:202422740:T:A | donor_loss | 1.0000 |
| 1:202425554:T:TA | acceptor_gain | 1.0000 |
| 1:202425555:G:A | acceptor_gain | 1.0000 |
| 1:202425562:GTA:G | acceptor_loss | 1.0000 |
| 1:202425564:A:AG | acceptor_gain | 1.0000 |
| 1:202425564:AG:A | acceptor_gain | 1.0000 |
| 1:202425564:AGG:A | acceptor_loss | 1.0000 |
AlphaMissense
6412 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 1:202416868:T:A | W125R | 1.000 |
| 1:202416868:T:C | W125R | 1.000 |
| 1:202580508:T:C | L966P | 1.000 |
| 1:202580529:T:C | L973P | 1.000 |
| 1:202348927:T:A | W26R | 0.999 |
| 1:202348927:T:C | W26R | 0.999 |
| 1:202348929:G:C | W26C | 0.999 |
| 1:202348929:G:T | W26C | 0.999 |
| 1:202349036:T:C | F62S | 0.999 |
| 1:202349047:T:C | C66R | 0.999 |
| 1:202349049:C:G | C66W | 0.999 |
| 1:202349115:C:A | N88K | 0.999 |
| 1:202349115:C:G | N88K | 0.999 |
| 1:202349132:C:A | A94D | 0.999 |
| 1:202349141:A:C | Q97P | 0.999 |
| 1:202416787:G:C | A98P | 0.999 |
| 1:202416790:T:C | C99R | 0.999 |
| 1:202416792:T:G | C99W | 0.999 |
| 1:202416824:T:C | L110P | 0.999 |
| 1:202427089:T:A | W251R | 0.999 |
| 1:202427089:T:C | W251R | 0.999 |
| 1:202437878:T:A | W438R | 0.999 |
| 1:202437878:T:C | W438R | 0.999 |
| 1:202493133:T:C | L654P | 0.999 |
| 1:202569166:G:C | R944P | 0.999 |
| 1:202580487:T:C | L959P | 0.999 |
| 1:202580529:T:A | L973H | 0.999 |
| 1:202580550:T:C | L980P | 0.999 |
| 1:202349017:T:C | F56L | 0.998 |
| 1:202349019:C:A | F56L | 0.998 |
dbSNP variants (sampled 300 via entrez): RS1000032005 (1:202380848 A>G), RS1000076988 (1:202524784 G>C), RS1000112881 (1:202504733 A>G), RS1000133777 (1:202396623 T>A), RS1000139814 (1:202435323 G>T), RS1000151333 (1:202373717 G>A), RS1000172094 (1:202574540 G>A), RS1000177596 (1:202455043 A>G), RS1000207629 (1:202349217 G>T), RS1000214703 (1:202354174 G>A), RS1000215141 (1:202359764 A>G), RS1000232970 (1:202448503 T>A,C), RS1000260305 (1:202366353 T>C), RS1000260826 (1:202448804 G>A,T), RS1000267029 (1:202354474 C>T)
Disease associations
OMIM: gene MIM:603768 | 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 |
|---|---|---|
| GCST001762_106 | Obesity-related traits | 1.000000e-06 |
| GCST002112_2 | Celiac disease | 3.000000e-07 |
| GCST002298_1 | Coronary heart disease | 3.000000e-07 |
| GCST003331_1 | Sex ratio | 3.000000e-46 |
| GCST011435_1 | Chronic obstructive pulmonary disease | 3.000000e-07 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004697 | estradiol measurement |
| EFO:0004820 | sex ratio |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
38 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | decreases expression, increases abundance | 4 |
| Aflatoxin B1 | decreases expression, decreases methylation, increases methylation | 3 |
| monomethylarsonous acid | decreases expression, increases expression | 2 |
| Air Pollutants | affects expression, increases abundance, increases expression | 2 |
| Benzo(a)pyrene | decreases expression, decreases methylation | 2 |
| Tobacco Smoke Pollution | decreases expression, affects expression | 2 |
| triphenyl phosphate | affects expression | 1 |
| bisphenol A | increases expression | 1 |
| sodium arsenate | decreases expression, increases abundance | 1 |
| arsenite | decreases expression, increases abundance | 1 |
| butyraldehyde | decreases expression | 1 |
| monomethylarsonic acid | decreases expression | 1 |
| arsenic acid | decreases expression, increases abundance | 1 |
| 3,4,3’,4’-tetrachlorobiphenyl | affects expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| dimethylmonothioarsinic acid | decreases expression | 1 |
| incobotulinumtoxinA | decreases expression | 1 |
| Cacodylic Acid | decreases expression | 1 |
| Dietary Carbohydrates | decreases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Fenfluramine | increases expression | 1 |
| Methyl Methanesulfonate | increases expression | 1 |
| Nickel | decreases expression | 1 |
| Niclosamide | increases expression | 1 |
| Oligomycins | affects response to substance, increases expression | 1 |
| Ozone | increases abundance, affects expression | 1 |
| Rotenone | increases expression | 1 |
| Tamoxifen | affects expression | 1 |
| Dronabinol | 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_E0UT | Ubigene Hep G2 PPP1R12B KO | 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.