MBIP
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Summary
MBIP (MAP3K12 binding inhibitory protein 1, HGNC:20427) is a protein-coding gene on chromosome 14q13.3, encoding MAP3K12-binding inhibitory protein 1 (Q9NS73). Functions as part of the ATAC complex, a complex with histone acetyltransferase activity on histones H3 and H4.
Enables identical protein binding activity and protein kinase inhibitor activity. Involved in several processes, including positive regulation of JNK cascade; regulation of cell division; and regulation of gene expression. Located in cytosol; nucleolus; and nucleoplasm. Part of ATAC complex.
Source: NCBI Gene 51562 — RefSeq curated summary.
At a glance
- GWAS associations: 5
- Clinical variants (ClinVar): 43 total
- MANE Select transcript:
NM_016586
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:20427 |
| Approved symbol | MBIP |
| Name | MAP3K12 binding inhibitory protein 1 |
| Location | 14q13.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000151332 |
| Ensembl biotype | protein_coding |
| OMIM | 609431 |
| Entrez | 51562 |
Gene structure
Transcript identifiers
Ensembl transcripts: 25 — 22 protein_coding, 3 protein_coding_CDS_not_defined
ENST00000318473, ENST00000359527, ENST00000416007, ENST00000603139, ENST00000603913, ENST00000604154, ENST00000604160, ENST00000604336, ENST00000604768, ENST00000605579, ENST00000905196, ENST00000905197, ENST00000905198, ENST00000905199, ENST00000905200, ENST00000905201, ENST00000905202, ENST00000917537, ENST00000917538, ENST00000917539, ENST00000917540, ENST00000917541, ENST00000950007, ENST00000950008, ENST00000950009
RefSeq mRNA: 3 — MANE Select: NM_016586
NM_001144891, NM_001308110, NM_016586
CCDS: CCDS45096, CCDS76672, CCDS9658
Canonical transcript exons
ENST00000416007 — 9 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000998963 | 36316693 | 36316812 |
| ENSE00000998964 | 36314691 | 36314915 |
| ENSE00001278113 | 36314512 | 36314608 |
| ENSE00001278158 | 36320460 | 36320637 |
| ENSE00003469317 | 36311959 | 36312024 |
| ENSE00003471478 | 36311573 | 36311725 |
| ENSE00003582723 | 36298564 | 36299190 |
| ENSE00003619138 | 36308092 | 36308189 |
| ENSE00003630186 | 36300785 | 36300823 |
Expression profiles
Bgee: expression breadth ubiquitous, 276 present calls, max score 96.69.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 15.0272 / max 435.8170, expressed in 1770 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 142918 | 14.1123 | 1764 |
| 142919 | 0.5588 | 300 |
| 142917 | 0.3561 | 80 |
Top tissues by expression
287 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| left lobe of thyroid gland | UBERON:0001120 | 96.69 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 96.49 | gold quality |
| thyroid gland | UBERON:0002046 | 96.22 | gold quality |
| right lung | UBERON:0002167 | 95.24 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 94.76 | gold quality |
| upper lobe of lung | UBERON:0008948 | 94.74 | gold quality |
| oocyte | CL:0000023 | 94.12 | gold quality |
| secondary oocyte | CL:0000655 | 93.28 | gold quality |
| adenohypophysis | UBERON:0002196 | 92.64 | gold quality |
| lung | UBERON:0002048 | 92.57 | gold quality |
| lower lobe of lung | UBERON:0008949 | 92.46 | gold quality |
| body of stomach | UBERON:0001161 | 92.26 | gold quality |
| calcaneal tendon | UBERON:0003701 | 91.77 | gold quality |
| fundus of stomach | UBERON:0001160 | 91.36 | gold quality |
| skin of abdomen | UBERON:0001416 | 91.23 | gold quality |
| rectum | UBERON:0001052 | 91.15 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 90.82 | gold quality |
| stomach | UBERON:0000945 | 90.61 | gold quality |
| left ovary | UBERON:0002119 | 90.54 | gold quality |
| tibial nerve | UBERON:0001323 | 90.28 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 90.13 | gold quality |
| popliteal artery | UBERON:0002250 | 90.12 | gold quality |
| tibial artery | UBERON:0007610 | 90.12 | gold quality |
| pituitary gland | UBERON:0000007 | 90.07 | gold quality |
| right ovary | UBERON:0002118 | 89.93 | gold quality |
| aorta | UBERON:0000947 | 89.78 | gold quality |
| ovary | UBERON:0000992 | 89.75 | gold quality |
| endocervix | UBERON:0000458 | 89.67 | gold quality |
| thoracic aorta | UBERON:0001515 | 89.49 | gold quality |
| ascending aorta | UBERON:0001496 | 89.47 | gold quality |
Single-cell (SCXA)
Detected in 4 experiment(s), a significant marker in 4.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-8894 | yes | 491.31 |
| E-GEOD-130148 | yes | 12.65 |
| E-GEOD-93593 | yes | 7.12 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: yes
Downstream targets (CollecTRI)
4 targets.
| Target | Regulation |
|---|---|
| MMP1 | Activation |
| MMP13 | Activation |
| MMP7 | Activation |
| MMP9 | Activation |
miRNA regulators (miRDB)
73 targeting MBIP, 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-LET-7A-3P | 100.00 | 74.03 | 3932 |
| HSA-LET-7B-3P | 100.00 | 74.08 | 3913 |
| HSA-LET-7F-1-3P | 100.00 | 74.02 | 3928 |
| HSA-MIR-98-3P | 100.00 | 74.08 | 3907 |
| HSA-MIR-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-4789-3P | 99.99 | 70.75 | 2484 |
| HSA-MIR-3667-3P | 99.99 | 67.17 | 1636 |
| HSA-MIR-548N | 99.98 | 71.94 | 4170 |
| HSA-MIR-12136 | 99.98 | 72.81 | 5713 |
| HSA-MIR-485-3P | 99.98 | 70.68 | 1585 |
| HSA-MIR-539-3P | 99.98 | 70.74 | 1616 |
| HSA-MIR-3658 | 99.96 | 73.87 | 4379 |
| HSA-MIR-4666A-3P | 99.96 | 71.71 | 3434 |
| 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 |
Literature-anchored findings (GeneRIF, showing 2)
- Pathway-Affecting Single Nucleotide Polymorphisms (SNPs) in RPS6KA1 and MBIP Genes are Associated with Breast Cancer Risk. (PMID:32711446)
- MBIP (MAP3K12 binding inhibitory protein) drives NSCLC metastasis by JNK-dependent activation of MMPs. (PMID:32963352)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | mbip | ENSDARG00000019364 |
| mus_musculus | Mbip | ENSMUSG00000021028 |
| rattus_norvegicus | Mbip | ENSRNOG00000008610 |
| drosophila_melanogaster | CG12016 | FBGN0035436 |
Paralogs (3): NMRK2 (ENSG00000077009), NMRK1 (ENSG00000106733), MOCS2 (ENSG00000164172)
Protein
Protein identifiers
MAP3K12-binding inhibitory protein 1 — Q9NS73 (reviewed: Q9NS73)
Alternative names: MAPK upstream kinase-binding inhibitory protein
All UniProt accessions (5): Q9NS73, S4R2X9, S4R3N2, S4R3P6, S4R3Y0
UniProt curated annotations — full annotation on UniProt →
Function. Functions as part of the ATAC complex, a complex with histone acetyltransferase activity on histones H3 and H4. Inhibits the MAP3K12 activity to induce the activation of the JNK/SAPK pathway. Together with MOCS2B, inhibits the activity of stress kinase EIF2AK2/PKR; this may lead to effects such as suppression of JNK activation and subsequent stress-responsive transcription, or suppression of eIF2a phosphorylation to favor translation.
Subunit / interactions. Component of the ADA2A-containing complex (ATAC), composed of KAT14, KAT2A, TADA2L, TADA3L, ZZ3, MBIP, WDR5, YEATS2, CCDC101 and DR1. In the complex, it probably interacts directly with KAT2A, KAT14 and WDR5. Interacts with the molybdopterin synthase complex subunit MOCS2B; the interaction is direct and enhances the interaction between MBIP and protein kinase EIF2AK2/PKR. Interacts with protein kinase EIF2AK2/PKR; the interaction is direct and leads to inhibition of EIF2AK2 self-activating autophosphorylation. Interacts with the molybdopterin synthase complex subunit MOCS2A.
Subcellular location. Nucleus. Cytoplasm.
Tissue specificity. Ubiquitous. High expression seen in the heart and lung.
Isoforms (4)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9NS73-1 | 1 | yes |
| Q9NS73-2 | 2 | |
| Q9NS73-3 | 3 | |
| Q9NS73-5 | 4 |
RefSeq proteins (3): NP_001138363, NP_001295039, NP_057670* (*=MANE)
Domains & families (InterPro)
UniProt features (21 total): cross-link 9, region of interest 3, splice variant 3, sequence variant 2, modified residue 2, chain 1, sequence conflict 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9NS73-F1 | 68.83 | 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 (11): 153, 235, 301, 304, 325, 91, 301, 94, 118, 129, 139
Function
Pathways and Gene Ontology
Reactome pathways
7 pathways
| ID | Pathway |
|---|---|
| R-HSA-3214847 | HATs acetylate histones |
| R-HSA-9772755 | Formation of WDR5-containing histone-modifying complexes |
| R-HSA-212165 | Epigenetic regulation of gene expression |
| R-HSA-3247509 | Chromatin modifying enzymes |
| R-HSA-4839726 | Chromatin organization |
| R-HSA-74160 | Gene expression (Transcription) |
| R-HSA-9917777 | Epigenetic regulation by WDR5-containing histone modifying complexes |
MSigDB gene sets: 141 (showing top):
GOBP_REGULATION_OF_PROTEIN_DEACETYLATION, GOBP_MACROMOLECULE_DEACYLATION, GOBP_POSITIVE_REGULATION_OF_MAPK_CASCADE, CEBPB_01, MILI_PSEUDOPODIA_HAPTOTAXIS_UP, SHEDDEN_LUNG_CANCER_GOOD_SURVIVAL_A4, GOBP_JNK_CASCADE, GOBP_REGULATION_OF_CELL_CYCLE, GOBP_REGULATION_OF_CELL_DIVISION, TGACATY_UNKNOWN, GOBP_POSITIVE_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION, CREB_Q3, ACTTTAT_MIR1425P, GOBP_EMBRYO_DEVELOPMENT, GOBP_REGULATION_OF_EMBRYONIC_DEVELOPMENT
GO Biological Process (8): negative regulation of transcription by RNA polymerase II (GO:0000122), regulation of DNA-templated transcription (GO:0006355), regulation of transcription by RNA polymerase II (GO:0006357), positive regulation of gene expression (GO:0010628), regulation of embryonic development (GO:0045995), positive regulation of JNK cascade (GO:0046330), regulation of cell division (GO:0051302), regulation of cell cycle (GO:0051726)
GO Molecular Function (3): protein kinase inhibitor activity (GO:0004860), identical protein binding (GO:0042802), protein binding (GO:0005515)
GO Cellular Component (7): nucleoplasm (GO:0005654), nucleolus (GO:0005730), cytosol (GO:0005829), mitotic spindle (GO:0072686), ATAC complex (GO:0140672), nucleus (GO:0005634), cytoplasm (GO:0005737)
Reactome top-level categories
Rollup of top-5 pathways:
| Category | Pathways |
|---|---|
| Chromatin modifying enzymes | 1 |
| Epigenetic regulation by WDR5-containing histone modifying complexes | 1 |
| Gene expression (Transcription) | 1 |
| Chromatin organization | 1 |
| Epigenetic regulation of gene expression | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| transcription by RNA polymerase II | 2 |
| regulation of gene expression | 2 |
| regulation of cellular process | 2 |
| nuclear lumen | 2 |
| regulation of transcription by RNA polymerase II | 1 |
| negative regulation of DNA-templated transcription | 1 |
| DNA-templated transcription | 1 |
| regulation of RNA biosynthetic process | 1 |
| regulation of DNA-templated transcription | 1 |
| gene expression | 1 |
| positive regulation of macromolecule biosynthetic process | 1 |
| embryo development | 1 |
| regulation of multicellular organismal development | 1 |
| JNK cascade | 1 |
| positive regulation of MAPK cascade | 1 |
| regulation of JNK cascade | 1 |
| cell division | 1 |
| cell cycle | 1 |
| protein kinase activity | 1 |
| kinase inhibitor activity | 1 |
| protein kinase regulator activity | 1 |
| protein binding | 1 |
| binding | 1 |
| intracellular membraneless organelle | 1 |
| cytoplasm | 1 |
| spindle | 1 |
| SAGA-type complex | 1 |
| intracellular membrane-bounded organelle | 1 |
| intracellular anatomical structure | 1 |
Protein interactions and networks
STRING
696 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| MBIP | MAP3K12 | Q12852 | 891 |
| MBIP | YEATS2 | Q9ULM3 | 854 |
| MBIP | DR1 | Q01658 | 842 |
| MBIP | ZZZ3 | Q8IYH5 | 758 |
| MBIP | POLE4 | Q9NR33 | 727 |
| MBIP | WDR5 | P61964 | 713 |
| MBIP | POLE3 | Q9NRF9 | 671 |
| MBIP | TADA2A | O75478 | 661 |
| MBIP | SGF29 | Q96ES7 | 645 |
| MBIP | TADA3 | O75528 | 571 |
| MBIP | CATSPERH | E9PQX1 | 552 |
| MBIP | CAPNS2 | Q96L46 | 538 |
| MBIP | PRDM11 | Q9NQV5 | 514 |
| MBIP | ITPK1 | Q13572 | 505 |
| MBIP | KAT2A | Q92830 | 501 |
IntAct
144 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| PSMC3 | PSMD9 | psi-mi:“MI:0914”(association) | 0.940 |
| WDR5 | KMT2D | psi-mi:“MI:0914”(association) | 0.910 |
| WDR5 | MBIP | psi-mi:“MI:0915”(physical association) | 0.880 |
| KAT14 | MBIP | psi-mi:“MI:0915”(physical association) | 0.860 |
| MBIP | KAT14 | psi-mi:“MI:0915”(physical association) | 0.860 |
| CDK8 | MED19 | psi-mi:“MI:2364”(proximity) | 0.850 |
| SGF29 | NDC80 | psi-mi:“MI:0914”(association) | 0.840 |
| MED23 | MED19 | psi-mi:“MI:2364”(proximity) | 0.770 |
| WDR5 | MEN1 | psi-mi:“MI:0914”(association) | 0.710 |
| MBIP | TXLNB | psi-mi:“MI:0915”(physical association) | 0.670 |
| TXLNB | MBIP | psi-mi:“MI:0915”(physical association) | 0.670 |
| HSPB2 | BAG3 | psi-mi:“MI:0914”(association) | 0.670 |
| PSMC3 | PSMD12 | psi-mi:“MI:0914”(association) | 0.640 |
| EPB41L3 | MBIP | psi-mi:“MI:0915”(physical association) | 0.620 |
| MBIP | MBIP | psi-mi:“MI:0915”(physical association) | 0.620 |
| MBIP | PLEKHF2 | psi-mi:“MI:0915”(physical association) | 0.620 |
| PPFIA1 | MBIP | psi-mi:“MI:0915”(physical association) | 0.620 |
| FXR2 | MBIP | psi-mi:“MI:0915”(physical association) | 0.620 |
| MBIP | EGFR | psi-mi:“MI:0915”(physical association) | 0.620 |
| MBIP | EGFR | psi-mi:“MI:2364”(proximity) | 0.620 |
BioGRID (295): MBIP (Two-hybrid), MBIP (Two-hybrid), MBIP (Two-hybrid), MBIP (Two-hybrid), MBIP (Two-hybrid), MBIP (Two-hybrid), MBIP (Two-hybrid), MBIP (Two-hybrid), MBIP (Two-hybrid), MBIP (Two-hybrid), MIS18A (Two-hybrid), CSRP2BP (Two-hybrid), MOAP1 (Two-hybrid), PLEKHF2 (Two-hybrid), NDEL1 (Two-hybrid)
ESM2 similar proteins: A0A2R8Q3S9, A2VCV0, A9ULX8, E1BN97, F1NVK6, F6UF99, P28236, P79169, P79368, Q06220, Q09108, Q0P557, Q0VA42, Q1LZF8, Q28132, Q29030, Q2T9I9, Q3B7T8, Q3V0J1, Q5PQX1, Q5R6R3, Q5T5J6, Q5ZM60, Q640L3, Q640U0, Q66H73, Q6PAV5, Q6PG04, Q7ZX27, Q7ZXV6, Q8K4Q9, Q8N4S0, Q8TDY2, Q90314, Q90WN7, Q91892, Q921T2, Q95M19, Q95MD2, Q95N18
Diamond homologs: A1CJM9, A1D7X4, A2QF55, A2X0R4, A4FUY7, A6R104, A7EVF4, B0X1V5, B0XYQ4, B2WBW4, B3M268, B3P6R5, B4GE20, B4IJG7, B4JHP4, B4KBH3, B4LVP8, B4NJW0, B4PUD1, B4QUC0, B5FXU9, D4GSW7, O22827, O31705, O67928, O96007, P30749, P45308, P65396, P65397, P65398, P65399, P65400, P65401, P9WJR2, P9WJR3, Q0V713, Q171H3, Q1DGL6, Q1DQS9
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 137 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 |
|---|---|---|---|
| Formation of WDR5-containing histone-modifying complexes | 8 | 21.9× | 2e-06 |
| Epigenetic regulation by WDR5-containing histone modifying complexes | 8 | 12.7× | 5e-05 |
| Deactivation of the beta-catenin transactivating complex | 5 | 12.0× | 4e-03 |
| Proteasome assembly | 5 | 10.5× | 6e-03 |
| Epigenetic regulation of gene expression by MLL3 and MLL4 complexes | 5 | 10.2× | 7e-03 |
| Formation of the beta-catenin:TCF transactivating complex | 7 | 8.7× | 2e-03 |
| Epigenetic regulation of gene expression | 11 | 8.1× | 4e-05 |
| TCF dependent signaling in response to WNT | 6 | 7.3× | 8e-03 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| regulation of cell division | 5 | 30.4× | 1e-04 |
| regulation of embryonic development | 7 | 18.4× | 4e-05 |
| transcription initiation-coupled chromatin remodeling | 5 | 15.2× | 2e-03 |
| regulation of G1/S transition of mitotic cell cycle | 6 | 14.6× | 5e-04 |
| positive regulation of myoblast differentiation | 5 | 14.5× | 2e-03 |
| positive regulation of fibroblast proliferation | 5 | 11.7× | 6e-03 |
| regulation of DNA repair | 5 | 11.0× | 8e-03 |
| transcription by RNA polymerase II | 11 | 6.2× | 3e-04 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
43 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 31 |
| Likely benign | 2 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1719 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 14:36300779:ACTT:A | donor_loss | 1.0000 |
| 14:36300781:TTACT:T | donor_loss | 1.0000 |
| 14:36300782:TA:T | donor_loss | 1.0000 |
| 14:36300783:A:AC | donor_gain | 1.0000 |
| 14:36300784:C:CA | donor_gain | 1.0000 |
| 14:36300819:AAGCT:A | acceptor_gain | 1.0000 |
| 14:36300820:AGCT:A | acceptor_gain | 1.0000 |
| 14:36300822:CT:C | acceptor_gain | 1.0000 |
| 14:36300822:CTCTA:C | acceptor_loss | 1.0000 |
| 14:36300824:C:CC | acceptor_gain | 1.0000 |
| 14:36300824:CT:C | acceptor_loss | 1.0000 |
| 14:36300825:T:A | acceptor_loss | 1.0000 |
| 14:36300829:T:C | acceptor_gain | 1.0000 |
| 14:36300829:T:TC | acceptor_gain | 1.0000 |
| 14:36308088:TCAC:T | donor_gain | 1.0000 |
| 14:36308090:A:AC | donor_gain | 1.0000 |
| 14:36308091:C:CC | donor_gain | 1.0000 |
| 14:36308091:CTA:C | donor_gain | 1.0000 |
| 14:36314507:GTTA:G | donor_loss | 1.0000 |
| 14:36314508:TTACC:T | donor_loss | 1.0000 |
| 14:36314509:TACCT:T | donor_loss | 1.0000 |
| 14:36314510:ACCTT:A | donor_loss | 1.0000 |
| 14:36314511:CCTT:C | donor_loss | 1.0000 |
| 14:36314542:C:A | donor_gain | 1.0000 |
| 14:36314605:CAAT:C | acceptor_gain | 1.0000 |
| 14:36314608:TC:T | acceptor_loss | 1.0000 |
| 14:36314609:C:CA | acceptor_loss | 1.0000 |
| 14:36314609:C:CC | acceptor_gain | 1.0000 |
| 14:36314689:A:AC | donor_gain | 1.0000 |
| 14:36314690:C:CC | donor_gain | 1.0000 |
AlphaMissense
2274 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 14:36314537:A:C | F182L | 1.000 |
| 14:36314537:A:T | F182L | 1.000 |
| 14:36314538:A:C | F182C | 1.000 |
| 14:36314538:A:G | F182S | 1.000 |
| 14:36314539:A:G | F182L | 1.000 |
| 14:36314585:A:C | F166L | 1.000 |
| 14:36314585:A:T | F166L | 1.000 |
| 14:36314587:A:G | F166L | 1.000 |
| 14:36308132:A:G | L283P | 0.999 |
| 14:36308144:T:A | E279V | 0.999 |
| 14:36308147:A:G | L278P | 0.999 |
| 14:36311608:A:G | L252P | 0.999 |
| 14:36311701:C:T | G221E | 0.999 |
| 14:36311709:A:C | N218K | 0.999 |
| 14:36311709:A:T | N218K | 0.999 |
| 14:36311968:G:C | H210D | 0.999 |
| 14:36311969:A:C | S209R | 0.999 |
| 14:36311969:A:T | S209R | 0.999 |
| 14:36311971:T:G | S209R | 0.999 |
| 14:36312000:G:T | A199E | 0.999 |
| 14:36312001:C:G | A199P | 0.999 |
| 14:36312008:T:A | R196S | 0.999 |
| 14:36312008:T:G | R196S | 0.999 |
| 14:36312009:C:G | R196T | 0.999 |
| 14:36312010:T:C | R196G | 0.999 |
| 14:36314549:G:C | N178K | 0.999 |
| 14:36314549:G:T | N178K | 0.999 |
| 14:36314569:C:G | A172P | 0.999 |
| 14:36314573:C:A | K170N | 0.999 |
| 14:36314573:C:G | K170N | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000066679 (14:36310592 G>A), RS1000234271 (14:36304957 A>G), RS1000357909 (14:36306694 A>T), RS1000538148 (14:36312360 A>C), RS1000610255 (14:36320193 G>C), RS1000626997 (14:36306647 C>T), RS1000678578 (14:36321684 T>C), RS1000683214 (14:36299205 G>A), RS1000979423 (14:36306455 T>C), RS1001199562 (14:36300704 T>C), RS1001314061 (14:36300357 A>G), RS1001407292 (14:36307089 T>A), RS1001429146 (14:36307390 T>G), RS1001569933 (14:36315712 C>T), RS1001573963 (14:36321827 G>C)
Disease associations
OMIM: gene MIM:609431 | 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 |
|---|---|---|
| GCST001382_3 | Thyroid cancer | 5.000000e-11 |
| GCST001856_13 | Thyroid hormone levels | 1.000000e-08 |
| GCST008165_12 | Thyroid stimulating hormone levels | 5.000000e-11 |
| GCST008828_3 | Hypertension | 7.000000e-06 |
| GCST010653_76 | Thyroid stimulating hormone levels | 8.000000e-30 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004730 | hormone measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
30 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| trichostatin A | affects cotreatment, decreases expression | 2 |
| perfluorooctane sulfonic acid | decreases expression | 2 |
| Valproic Acid | decreases expression | 2 |
| FR900359 | decreases phosphorylation | 1 |
| TAK-243 | decreases sumoylation | 1 |
| dicrotophos | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| pirinixic acid | affects binding, increases activity, increases expression | 1 |
| sodium arsenite | affects cotreatment, increases abundance, increases expression | 1 |
| manganese chloride | increases expression, affects cotreatment, increases abundance | 1 |
| coumarin | increases phosphorylation | 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 |
| Grape Seed Proanthocyanidins | affects cotreatment, increases expression | 1 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| jinfukang | decreases expression | 1 |
| Zoledronic Acid | increases expression | 1 |
| Air Pollutants | increases abundance, decreases expression | 1 |
| Arsenic | affects cotreatment, increases abundance, increases expression | 1 |
| Caffeine | decreases phosphorylation | 1 |
| Catechin | affects cotreatment, increases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Formaldehyde | decreases expression | 1 |
| Manganese | affects cotreatment, increases abundance, increases expression | 1 |
| Quercetin | decreases expression | 1 |
| Tobacco Smoke Pollution | increases expression | 1 |
| Asbestos, Crocidolite | affects expression | 1 |
| Copper Sulfate | decreases expression | 1 |
| Lactic Acid | increases expression | 1 |
| Particulate Matter | decreases expression, increases abundance | 1 |
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): hypertensive disorder, thyroid gland carcinoma