PABIR1
gene geneOn this page
Also known as MGC17347
Summary
PABIR1 (PP2A Aalpha (PPP2R1A) and B55A (PPP2R2A) interacting phosphatase regulator 1, HGNC:23490) is a protein-coding gene on chromosome 9q21.11, encoding PPP2R1A-PPP2R2A-interacting phosphatase regulator 1 (Q96E09). Acts as an inhibitor of serine/threonine-protein phosphatase 2A (PP2A) activity. It is a selective cancer dependency (DepMap: 21.5% of cell lines).
Enables protein phosphatase 2A binding activity and protein serine/threonine phosphatase inhibitor activity. Involved in mitotic G2/M transition checkpoint; positive regulation of cell growth; and positive regulation of proteasomal ubiquitin-dependent protein catabolic process. Located in cytoplasm and nuclear body.
Source: NCBI Gene 116224 — RefSeq curated summary.
At a glance
- GWAS associations: 2
- Clinical variants (ClinVar): 27 total
- Cancer dependency (DepMap): dependent in 21.5% of screened cell lines
- MANE Select transcript:
NM_138333
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:23490 |
| Approved symbol | PABIR1 |
| Name | PP2A Aalpha (PPP2R1A) and B55A (PPP2R2A) interacting phosphatase regulator 1 |
| Location | 9q21.11 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | MGC17347 |
| Ensembl gene | ENSG00000187866 |
| Ensembl biotype | protein_coding |
| OMIM | 617249 |
| Entrez | 116224 |
Gene structure
Transcript identifiers
Ensembl transcripts: 1 — 1 protein_coding
ENST00000394264
RefSeq mRNA: 1 — MANE Select: NM_138333
NM_138333
CCDS: CCDS6623
Canonical transcript exons
ENST00000394264 — 1 exons
| Exon | Start | End |
|---|---|---|
| ENSE00002240002 | 68780065 | 68785566 |
Expression profiles
Bgee: expression breadth ubiquitous, 242 present calls, max score 94.50.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 19.1511 / max 126.0962, expressed in 1810 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 96806 | 18.8248 | 1810 |
| 96808 | 0.2321 | 93 |
| 96807 | 0.0942 | 48 |
Top tissues by expression
251 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| secondary oocyte | CL:0000655 | 94.50 | gold quality |
| oocyte | CL:0000023 | 91.63 | gold quality |
| epithelial cell of pancreas | CL:0000083 | 91.63 | gold quality |
| tibialis anterior | UBERON:0001385 | 90.07 | silver quality |
| biceps brachii | UBERON:0001507 | 88.74 | gold quality |
| skeletal muscle tissue of biceps brachii | UBERON:0004502 | 88.44 | gold quality |
| deltoid | UBERON:0001476 | 87.44 | silver quality |
| heart right ventricle | UBERON:0002080 | 86.73 | gold quality |
| popliteal artery | UBERON:0002250 | 83.41 | gold quality |
| tibial artery | UBERON:0007610 | 83.38 | gold quality |
| pigmented layer of retina | UBERON:0001782 | 83.30 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 83.06 | gold quality |
| quadriceps femoris | UBERON:0001377 | 82.79 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 82.73 | gold quality |
| vastus lateralis | UBERON:0001379 | 82.71 | gold quality |
| right coronary artery | UBERON:0001625 | 82.67 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 82.62 | gold quality |
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 82.43 | gold quality |
| left coronary artery | UBERON:0001626 | 82.38 | gold quality |
| aorta | UBERON:0000947 | 82.26 | gold quality |
| skeletal muscle tissue | UBERON:0001134 | 81.77 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 81.51 | gold quality |
| ileal mucosa | UBERON:0000331 | 81.32 | gold quality |
| myocardium | UBERON:0002349 | 81.26 | silver quality |
| endothelial cell | CL:0000115 | 81.24 | silver quality |
| coronary artery | UBERON:0001621 | 81.05 | gold quality |
| thoracic aorta | UBERON:0001515 | 81.04 | gold quality |
| islet of Langerhans | UBERON:0000006 | 80.90 | gold quality |
| ascending aorta | UBERON:0001496 | 80.81 | gold quality |
| muscle tissue | UBERON:0002385 | 80.80 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
194 targeting PABIR1, 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-3924 | 100.00 | 72.09 | 2394 |
| HSA-MIR-188-3P | 100.00 | 68.76 | 1240 |
| HSA-MIR-4533 | 100.00 | 69.48 | 2758 |
| HSA-MIR-7110-3P | 100.00 | 73.18 | 2486 |
| HSA-MIR-574-5P | 100.00 | 66.01 | 989 |
| HSA-MIR-1252-5P | 100.00 | 69.80 | 2774 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-4500 | 99.99 | 72.72 | 2367 |
| HSA-MIR-186-5P | 99.99 | 70.83 | 3707 |
| HSA-MIR-3667-3P | 99.99 | 67.17 | 1636 |
| HSA-LET-7A-5P | 99.98 | 72.29 | 1790 |
| HSA-LET-7B-5P | 99.98 | 72.31 | 1790 |
| HSA-LET-7C-5P | 99.98 | 72.29 | 1790 |
| HSA-LET-7E-5P | 99.98 | 72.29 | 1790 |
| HSA-LET-7F-5P | 99.98 | 72.56 | 1784 |
| HSA-LET-7G-5P | 99.98 | 72.37 | 1784 |
| HSA-LET-7I-5P | 99.98 | 72.37 | 1788 |
| HSA-MIR-98-5P | 99.98 | 72.33 | 1787 |
| HSA-MIR-4803 | 99.98 | 71.99 | 3117 |
| HSA-MIR-548N | 99.98 | 71.94 | 4170 |
| HSA-LET-7D-5P | 99.96 | 71.76 | 1632 |
| HSA-MIR-4458 | 99.96 | 71.64 | 1650 |
| HSA-MIR-4725-3P | 99.96 | 69.53 | 2520 |
| HSA-MIR-6780B-5P | 99.96 | 69.60 | 2562 |
| HSA-MIR-2110 | 99.96 | 66.68 | 1930 |
| HSA-MIR-590-3P | 99.96 | 74.34 | 6478 |
| HSA-MIR-548AA | 99.96 | 70.64 | 3753 |
| HSA-MIR-548AP-3P | 99.96 | 70.64 | 3753 |
| HSA-MIR-548T-3P | 99.96 | 70.64 | 3753 |
| HSA-MIR-6778-3P | 99.96 | 67.29 | 2693 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 21.5% of screened cell lines.
Literature-anchored findings (GeneRIF, showing 6)
- identify FAM122A as a new endogenous PP2A inhibitor (PMID:27588481)
- FAM122A promotes acute myeloid leukemia cell growth through inhibiting PP2A activity and sustaining MYC expression. (PMID:32354864)
- FAM122A Inhibits Erythroid Differentiation through GATA1. (PMID:32763160)
- FAM122A maintains DNA stability possibly through the regulation of topoisomerase IIalpha expression. (PMID:32866497)
- FAM122A is required for hematopoietic stem cell function. (PMID:33262527)
- FAM122A ensures cell cycle interphase progression and checkpoint control by inhibiting B55alpha/PP2A through helical motifs. (PMID:38982062)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | pabir2 | ENSDARG00000036500 |
| mus_musculus | Pabir1 | ENSMUSG00000074922 |
| rattus_norvegicus | Pabir1 | ENSRNOG00000051051 |
| drosophila_melanogaster | CG4497 | FBGN0031895 |
| caenorhabditis_elegans | WBGENE00018518 |
Paralogs (2): PABIR3 (ENSG00000156500), PABIR2 (ENSG00000156504)
Protein
Protein identifiers
PPP2R1A-PPP2R2A-interacting phosphatase regulator 1 — Q96E09 (reviewed: Q96E09)
Alternative names: PABIR family member 1
All UniProt accessions (1): Q96E09
UniProt curated annotations — full annotation on UniProt →
Function. Acts as an inhibitor of serine/threonine-protein phosphatase 2A (PP2A) activity. Inhibits PP2A activity by blocking the substrate binding site on PPP2R2A and the active site of PPP2CA. Potentiates ubiquitin-mediated proteasomal degradation of serine/threonine-protein phosphatase 2A catalytic subunit alpha (PPP2CA). Inhibits PP2A-mediated dephosphorylation of WEE1, promoting ubiquitin-mediated proteolysis of WEE1, thereby releasing G2/M checkpoint.
Subunit / interactions. Interacts with PPP2CA and PPP2R1A. Interacts (via its N-terminus) with PPP2R2A; the interaction is direct and this interaction inhibits PP2A activity. The CHEK1-mediated Ser-37 phosphorylated form interacts with 14-3-3 proteins.
Subcellular location. Nucleus. Cytoplasm.
Post-translational modifications. CHEK1-mediated phosphorylation at Ser-37 negatively regulates its ability to inhibit serine/threonine-protein phosphatase 2A (PP2A) activity. Phosphorylation leads to its release from the PP2A complex and its sequestration by 14-3-3 proteins in the cytoplasm resulting in its inability to translocate to the nucleus, where it otherwise inhibits PP2A.
Similarity. Belongs to the FAM122 family.
RefSeq proteins (1): NP_612206* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR026716 | PBIR1/2/3 | Family |
UniProt features (33 total): modified residue 15, mutagenesis site 7, compositionally biased region 4, region of interest 3, helix 2, chain 1, cross-link 1
Structure
Experimental structures (PDB)
3 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 8TWE | ELECTRON MICROSCOPY | 2.55 |
| 8TWI | ELECTRON MICROSCOPY | 2.69 |
| 8SO0 | ELECTRON MICROSCOPY | 2.8 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q96E09-F1 | 60.54 | 0.08 |
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 (16): 45, 47, 48, 62, 76, 143, 147, 149, 187, 189, 267, 270, 276, 89, 35, 37
Mutagenesis-validated functional residues (7):
| Position | Phenotype |
|---|---|
| 37 | loss of phosphorylation and interaction with 14-3-3 proteins. enhanced interaction with ppp2r2a. |
| 84–85 | impairs interaction with ppp2r2a and reduces the inhibition of pp2a activity by pabir1/fam122a. |
| 88–89 | impairs interaction with ppp2r2a and reduces the inhibition of pp2a activity by pabir1/fam122a. |
| 91 | impairs interaction with ppp2r2a and reduces the inhibition of pp2a activity by pabir1/fam122a. |
| 92 | impairs interaction with ppp2r2a and reduces the inhibition of pp2a activity by pabir1/fam122a. |
| 105 | reduces the inhibition of pp2a activity by pabir1/fam122a. |
| 107 | reduces the inhibition of pp2a activity by pabir1/fam122a. |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 225 (showing top):
GSE18804_BRAIN_VS_COLON_TUMORAL_MACROPHAGE_UP, AGGAAGC_MIR5163P, GOBP_REGULATION_OF_PROTEASOMAL_UBIQUITIN_DEPENDENT_PROTEIN_CATABOLIC_PROCESS, TGCGCANK_UNKNOWN, GOZGIT_ESR1_TARGETS_DN, GOBP_CELL_CYCLE_PHASE_TRANSITION, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_DN, GOBP_GROWTH, GOBP_POSITIVE_REGULATION_OF_PROTEIN_CATABOLIC_PROCESS, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, IVANOVA_HEMATOPOIESIS_LATE_PROGENITOR, GGAMTNNNNNTCCY_UNKNOWN, GOBP_MITOTIC_G2_M_TRANSITION_CHECKPOINT, GOBP_REGULATION_OF_CELL_CYCLE_G2_M_PHASE_TRANSITION
GO Biological Process (3): positive regulation of cell growth (GO:0030307), positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436), mitotic G2/M transition checkpoint (GO:0044818)
GO Molecular Function (4): protein phosphatase inhibitor activity (GO:0004864), protein serine/threonine phosphatase inhibitor activity (GO:0004865), protein phosphatase 2A binding (GO:0051721), protein binding (GO:0005515)
GO Cellular Component (4): nucleus (GO:0005634), nucleoplasm (GO:0005654), cytoplasm (GO:0005737), nuclear body (GO:0016604)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 2 |
| regulation of cell growth | 1 |
| cell growth | 1 |
| positive regulation of growth | 1 |
| positive regulation of cellular process | 1 |
| regulation of proteasomal ubiquitin-dependent protein catabolic process | 1 |
| proteasome-mediated ubiquitin-dependent protein catabolic process | 1 |
| positive regulation of proteasomal protein catabolic process | 1 |
| positive regulation of ubiquitin-dependent protein catabolic process | 1 |
| mitotic cell cycle checkpoint signaling | 1 |
| negative regulation of G2/M transition of mitotic cell cycle | 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 |
| binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| nuclear lumen | 1 |
| intracellular anatomical structure | 1 |
| nucleoplasm | 1 |
| intracellular membraneless organelle | 1 |
Protein interactions and networks
STRING
250 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| PABIR1 | OGFOD1 | Q8N543 | 607 |
| PABIR1 | PIP5K1B | P78518 | 478 |
| PABIR1 | INTS15 | Q96N11 | 446 |
| PABIR1 | ZFYVE19 | Q96K21 | 446 |
| PABIR1 | PRKAG2 | Q9UGJ0 | 402 |
| PABIR1 | ENSA | O43768 | 398 |
| PABIR1 | CIP2A | Q8TCG1 | 380 |
| PABIR1 | UBE2Q2 | Q8WVN8 | 325 |
| PABIR1 | NAIF1 | Q69YI7 | 325 |
| PABIR1 | PHTF2 | Q8N3S3 | 323 |
| PABIR1 | NKAPL | Q5M9Q1 | 322 |
| PABIR1 | DCUN1D4 | Q92564 | 318 |
| PABIR1 | ADGRF2P | Q8IZF7 | 317 |
| PABIR1 | ARPP19 | P56211 | 310 |
| PABIR1 | MIGA1 | Q8NAN2 | 310 |
IntAct
57 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| PPP2R1A | PPP2R2A | psi-mi:“MI:0915”(physical association) | 0.970 |
| PPP2R2A | PPP2R1A | psi-mi:“MI:0915”(physical association) | 0.970 |
| PABIR1 | PPP2R1A | psi-mi:“MI:0914”(association) | 0.880 |
| PPP2R1A | STRN | psi-mi:“MI:0914”(association) | 0.880 |
| PPP2R2A | PABIR1 | psi-mi:“MI:0407”(direct interaction) | 0.820 |
| PABIR1 | PPP2R2A | psi-mi:“MI:0407”(direct interaction) | 0.820 |
| PPP2R2C | PPP2R1A | psi-mi:“MI:0914”(association) | 0.730 |
| POLR3GL | POLR3A | psi-mi:“MI:0914”(association) | 0.730 |
| PPP2R2D | YEATS4 | psi-mi:“MI:0914”(association) | 0.730 |
| YWHAG | BLTP3B | psi-mi:“MI:2364”(proximity) | 0.640 |
| PPP2R2A | ARPP19 | psi-mi:“MI:0407”(direct interaction) | 0.630 |
| YWHAH | PLEKHG3 | psi-mi:“MI:0914”(association) | 0.610 |
| YWHAH | BLTP3B | psi-mi:“MI:2364”(proximity) | 0.570 |
| PPP2R2A | RBL1 | psi-mi:“MI:0915”(physical association) | 0.540 |
| PPP2R1A | ENSA | psi-mi:“MI:0914”(association) | 0.530 |
| PABIR1 | TERF2IP | psi-mi:“MI:0915”(physical association) | 0.510 |
| PABIR1 | psi-mi:“MI:0203”(dephosphorylation reaction) | 0.440 | |
| PKM | PABIR1 | psi-mi:“MI:0217”(phosphorylation reaction) | 0.440 |
| Ppp2r1a | CCHCR1 | psi-mi:“MI:0914”(association) | 0.350 |
| KIF11 | ILVBL | psi-mi:“MI:0914”(association) | 0.350 |
| PPP2R1A | INTS2 | psi-mi:“MI:0914”(association) | 0.350 |
| Ppp2r2a | PPP2R1A | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (65): FAM122A (Affinity Capture-MS), KLHL15 (Affinity Capture-MS), PPP2R1A (Affinity Capture-MS), PPP3CA (Affinity Capture-MS), FAM122B (Affinity Capture-MS), PPP2R2D (Affinity Capture-MS), PPP2R2A (Affinity Capture-MS), PPP3R1 (Affinity Capture-MS), RCAN1 (Affinity Capture-MS), FAM122A (Affinity Capture-MS), FAM122A (Affinity Capture-MS), FAM122A (Affinity Capture-MS), FAM122A (Affinity Capture-MS), FAM122A (Affinity Capture-MS), FAM122A (Affinity Capture-MS)
ESM2 similar proteins: A2AQ25, A4IGU9, A7E300, A8E4V2, B5DF41, B5DGK1, F1N4M2, O15079, O55003, O60238, O60516, Q0IHF8, Q0P5A7, Q12983, Q13541, Q14DQ1, Q1LWL8, Q3B7T9, Q3T013, Q3UN70, Q3ZCB6, Q5PR01, Q5XG16, Q5XKK7, Q5ZLN7, Q60876, Q62622, Q62739, Q63744, Q68EF0, Q68FF7, Q6AYT4, Q6PBI2, Q6PFP3, Q6ZNC4, Q7Z309, Q80U23, Q80VV3, Q8AVU0, Q8LD26
Diamond homologs: Q5ZLN7, Q6AYT4, Q6NZE7, Q6P4D5, Q7Z309, Q96E09, Q9DB52
SIGNOR signaling
2 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| PABIR1 | “down-regulates activity” | PPP2R2A | binding |
| CHEK1 | “down-regulates activity” | PABIR1 | phosphorylation |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 47 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 |
|---|---|---|---|
| Activation of BAD and translocation to mitochondria | 7 | 152.3× | 9e-13 |
| Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex | 7 | 134.3× | 2e-12 |
| SARS-CoV-1 targets host intracellular signalling and regulatory pathways | 7 | 134.3× | 2e-12 |
| Activation of BH3-only proteins | 7 | 99.3× | 2e-11 |
| RHO GTPases activate PKNs | 7 | 63.4× | 4e-10 |
| Intrinsic Pathway for Apoptosis | 7 | 58.6× | 7e-10 |
| FOXO-mediated transcription | 6 | 57.6× | 2e-08 |
| RAF activation | 5 | 48.0× | 6e-07 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| protein targeting | 5 | 44.7× | 1e-05 |
| mitotic cell cycle | 7 | 22.8× | 6e-06 |
| intracellular protein localization | 7 | 17.9× | 1e-05 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
27 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 26 |
| Likely benign | 0 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
184 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 9:68781019:GTC:G | donor_gain | 0.9600 |
| 9:68781020:TCT:T | donor_gain | 0.9600 |
| 9:68781021:C:G | donor_gain | 0.9600 |
| 9:68781025:G:GG | donor_gain | 0.9000 |
| 9:68780947:C:A | donor_gain | 0.8800 |
| 9:68781021:C:CG | donor_gain | 0.8700 |
| 9:68781024:A:AG | donor_gain | 0.8700 |
| 9:68780652:GTTTT:G | donor_gain | 0.8500 |
| 9:68780945:G:GG | donor_gain | 0.8500 |
| 9:68781029:T:G | donor_gain | 0.8500 |
| 9:68780290:C:CA | acceptor_gain | 0.8300 |
| 9:68780623:G:T | donor_gain | 0.8300 |
| 9:68780944:A:AG | donor_gain | 0.8200 |
| 9:68780623:G:GT | donor_gain | 0.8000 |
| 9:68780657:G:GG | donor_gain | 0.8000 |
| 9:68780942:A:T | donor_gain | 0.7800 |
| 9:68780501:A:G | donor_gain | 0.7700 |
| 9:68781028:A:AG | donor_gain | 0.7400 |
| 9:68780520:A:T | donor_gain | 0.7200 |
| 9:68780932:C:G | donor_gain | 0.7200 |
| 9:68781505:T:A | donor_gain | 0.7100 |
| 9:68780653:TTTT:T | donor_gain | 0.7000 |
| 9:68780654:TTTG:T | donor_loss | 0.6400 |
| 9:68780655:TTG:T | donor_loss | 0.6400 |
| 9:68780656:TG:T | donor_loss | 0.6400 |
| 9:68780657:G:GC | donor_loss | 0.6400 |
| 9:68780658:TAA:T | donor_loss | 0.6400 |
| 9:68780659:A:AC | donor_loss | 0.6400 |
| 9:68780660:AGTAG:A | donor_loss | 0.6400 |
| 9:68780661:G:C | donor_loss | 0.6400 |
AlphaMissense
1882 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 9:68780633:T:C | F157L | 0.999 |
| 9:68780635:T:A | F157L | 0.999 |
| 9:68780635:T:G | F157L | 0.999 |
| 9:68780776:A:C | R204S | 0.999 |
| 9:68780776:A:T | R204S | 0.999 |
| 9:68780265:G:T | R34M | 0.998 |
| 9:68780427:T:C | I88T | 0.998 |
| 9:68780427:T:G | I88S | 0.998 |
| 9:68780478:G:C | R105P | 0.998 |
| 9:68780273:A:C | S37R | 0.997 |
| 9:68780275:C:A | S37R | 0.997 |
| 9:68780275:C:G | S37R | 0.997 |
| 9:68780513:T:A | W117R | 0.997 |
| 9:68780513:T:C | W117R | 0.997 |
| 9:68780607:C:A | P148H | 0.997 |
| 9:68780773:A:C | K203N | 0.997 |
| 9:68780773:A:T | K203N | 0.997 |
| 9:68780775:G:C | R204T | 0.997 |
| 9:68780286:T:C | I41T | 0.996 |
| 9:68780431:A:C | K89N | 0.996 |
| 9:68780431:A:T | K89N | 0.996 |
| 9:68780460:G:C | R99P | 0.996 |
| 9:68780492:G:C | A110P | 0.996 |
| 9:68780606:C:T | P148S | 0.996 |
| 9:68780626:G:C | K154N | 0.996 |
| 9:68780626:G:T | K154N | 0.996 |
| 9:68780753:A:C | S197R | 0.996 |
| 9:68780755:T:A | S197R | 0.996 |
| 9:68780755:T:G | S197R | 0.996 |
| 9:68780771:A:G | K203E | 0.995 |
dbSNP variants (sampled 300 via entrez): RS1000762651 (9:68778099 T>C), RS1000779266 (9:68781319 ATAAC>A), RS1001186345 (9:68782324 A>G), RS1001818969 (9:68781922 C>T), RS1001883948 (9:68783237 T>C), RS1001916520 (9:68782833 ATCT>A), RS1001995024 (9:68785002 G>T), RS1002799471 (9:68781162 G>T), RS1002877105 (9:68779597 G>C), RS1003177627 (9:68781610 A>G,T), RS1003556675 (9:68784749 A>G), RS1004130584 (9:68778441 AC>A), RS1004440950 (9:68783022 T>A), RS1004807206 (9:68784185 A>G), RS1004856248 (9:68779111 G>A)
Disease associations
OMIM: gene MIM:617249 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
2 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000649_28 | Chronic kidney disease | 8.000000e-14 |
| GCST007876_57 | Estimated glomerular filtration rate | 7.000000e-31 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
23 total (human), top 23 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | increases expression | 2 |
| 3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide | decreases expression | 1 |
| GSK-J4 | decreases expression | 1 |
| FR900359 | affects phosphorylation | 1 |
| triphenyl phosphate | affects expression | 1 |
| kojic acid | increases expression | 1 |
| coumarin | increases phosphorylation | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| cylindrospermopsin | increases expression | 1 |
| Sunitinib | increases expression | 1 |
| Leflunomide | increases expression | 1 |
| Acetaminophen | increases expression | 1 |
| Atrazine | decreases expression | 1 |
| Caffeine | affects phosphorylation | 1 |
| Doxorubicin | decreases expression | 1 |
| Quercetin | affects phosphorylation | 1 |
| Urethane | decreases expression | 1 |
| Vanadates | decreases expression | 1 |
| Aflatoxin B1 | decreases methylation | 1 |
| Antirheumatic Agents | increases expression | 1 |
| Copper Sulfate | decreases expression | 1 |
| Lactic Acid | decreases expression | 1 |
| Genistein | increases expression | 1 |
Cellosaurus cell lines
2 cell lines: 2 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_SM82 | HAP1 FAM122A (-) 1 | Cancer cell line | Male |
| CVCL_XN63 | HAP1 FAM122A (-) 2 | 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.