CAB39
gene geneOn this page
Also known as CGI-66MO25
Summary
CAB39 (calcium binding protein 39, HGNC:20292) is a protein-coding gene on chromosome 2q37.1, encoding Calcium-binding protein 39 (Q9Y376). Component of a complex that binds and activates STK11/LKB1. It is a selective cancer dependency (DepMap: 23.1% of cell lines).
Enables kinase binding activity and protein serine/threonine kinase activator activity. Involved in intracellular signal transduction; peptidyl-serine phosphorylation; and positive regulation of protein phosphorylation. Located in cytoplasm. Part of serine/threonine protein kinase complex. Implicated in hepatocellular carcinoma. Biomarker of hepatocellular carcinoma and pancreatic cancer.
Source: NCBI Gene 51719 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 28 total — 1 pathogenic
- Druggable target: yes
- Cancer dependency (DepMap): dependent in 23.1% of screened cell lines
- MANE Select transcript:
NM_016289
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:20292 |
| Approved symbol | CAB39 |
| Name | calcium binding protein 39 |
| Location | 2q37.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | CGI-66, MO25 |
| Ensembl gene | ENSG00000135932 |
| Ensembl biotype | protein_coding |
| OMIM | 612174 |
| Entrez | 51719 |
Gene structure
Transcript identifiers
Ensembl transcripts: 28 — 25 protein_coding, 2 retained_intron, 1 protein_coding_CDS_not_defined
ENST00000258418, ENST00000409788, ENST00000410084, ENST00000478152, ENST00000484398, ENST00000493540, ENST00000874559, ENST00000874560, ENST00000874561, ENST00000874562, ENST00000874563, ENST00000874564, ENST00000874565, ENST00000874566, ENST00000874567, ENST00000874568, ENST00000874569, ENST00000874570, ENST00000913362, ENST00000913363, ENST00000913364, ENST00000913365, ENST00000913366, ENST00000962335, ENST00000962336, ENST00000962337, ENST00000962338, ENST00000962339
RefSeq mRNA: 3 — MANE Select: NM_016289
NM_001130849, NM_001130850, NM_016289
CCDS: CCDS2478
Canonical transcript exons
ENST00000258418 — 9 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000922487 | 230790872 | 230791036 |
| ENSE00000922489 | 230810263 | 230810322 |
| ENSE00000922490 | 230814049 | 230814114 |
| ENSE00000965552 | 230798729 | 230798897 |
| ENSE00001154635 | 230712842 | 230713230 |
| ENSE00001174706 | 230818516 | 230821075 |
| ENSE00001174710 | 230759959 | 230760115 |
| ENSE00001722339 | 230817754 | 230817897 |
| ENSE00003504728 | 230793213 | 230793331 |
Expression profiles
Bgee: expression breadth ubiquitous, 292 present calls, max score 98.86.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 37.1960 / max 387.5476, expressed in 1822 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 25822 | 34.4618 | 1820 |
| 25826 | 1.4704 | 714 |
| 25823 | 1.2121 | 514 |
| 25825 | 0.0518 | 22 |
Top tissues by expression
292 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| amniotic fluid | UBERON:0000173 | 98.86 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 98.82 | gold quality |
| tibia | UBERON:0000979 | 98.32 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 98.31 | gold quality |
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 98.16 | gold quality |
| skeletal muscle tissue of biceps brachii | UBERON:0004502 | 98.13 | gold quality |
| biceps brachii | UBERON:0001507 | 97.98 | gold quality |
| mucosa of sigmoid colon | UBERON:0004993 | 97.86 | gold quality |
| palpebral conjunctiva | UBERON:0001812 | 97.83 | gold quality |
| gluteal muscle | UBERON:0002000 | 97.75 | gold quality |
| colonic mucosa | UBERON:0000317 | 97.73 | gold quality |
| cartilage tissue | UBERON:0002418 | 97.69 | gold quality |
| epithelium of esophagus | UBERON:0001976 | 97.52 | gold quality |
| triceps brachii | UBERON:0001509 | 97.26 | gold quality |
| eye | UBERON:0000970 | 97.11 | gold quality |
| medial globus pallidus | UBERON:0002477 | 97.11 | gold quality |
| squamous epithelium | UBERON:0006914 | 97.08 | gold quality |
| oral cavity | UBERON:0000167 | 96.94 | gold quality |
| skeletal muscle tissue | UBERON:0001134 | 96.89 | gold quality |
| trabecular bone tissue | UBERON:0002483 | 96.88 | gold quality |
| muscle of leg | UBERON:0001383 | 96.79 | gold quality |
| muscle organ | UBERON:0001630 | 96.72 | gold quality |
| skeletal muscle organ | UBERON:0014892 | 96.72 | gold quality |
| gastrocnemius | UBERON:0001388 | 96.71 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 96.71 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 96.70 | gold quality |
| vastus lateralis | UBERON:0001379 | 96.64 | gold quality |
| pons | UBERON:0000988 | 96.62 | gold quality |
| visceral pleura | UBERON:0002401 | 96.60 | gold quality |
| jejunal mucosa | UBERON:0000399 | 96.59 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-CURD-119 | yes | 32.03 |
| E-ANND-3 | yes | 9.86 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
162 targeting CAB39, 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-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-200B-3P | 100.00 | 73.31 | 2693 |
| HSA-MIR-200C-3P | 100.00 | 73.35 | 2685 |
| HSA-MIR-429 | 100.00 | 73.44 | 2698 |
| HSA-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-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-8485 | 100.00 | 77.57 | 4731 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-548AW | 99.99 | 72.57 | 3559 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-223-3P | 99.99 | 70.14 | 1140 |
| HSA-MIR-3667-3P | 99.99 | 67.17 | 1636 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-103A-3P | 99.98 | 69.14 | 1595 |
| HSA-MIR-107 | 99.98 | 69.14 | 1595 |
| HSA-MIR-3617-3P | 99.98 | 67.86 | 918 |
| HSA-MIR-19A-3P | 99.98 | 75.33 | 2762 |
| HSA-MIR-19B-3P | 99.98 | 75.44 | 2754 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-548N | 99.98 | 71.94 | 4170 |
| HSA-MIR-302C-5P | 99.97 | 72.56 | 3642 |
| HSA-MIR-495-3P | 99.96 | 72.81 | 4197 |
| HSA-MIR-1250-3P | 99.96 | 70.04 | 4038 |
| HSA-MIR-5688 | 99.96 | 73.23 | 4504 |
| HSA-MIR-551B-5P | 99.96 | 71.28 | 3493 |
| HSA-MIR-1468-3P | 99.96 | 72.74 | 3797 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 23.1% of screened cell lines.
Literature-anchored findings (GeneRIF, showing 15)
- STRADalpha.MO25alpha complexes containing LKB1 variants were equally effective at phosphorylating and activating AMPK, BRSK1, and BRSK2 (PMID:18854318)
- These data define a brush border induction pathway downstream of the Lkb1/Strad/Mo25 polarization complex, yet separate from other polarity events. (PMID:19386264)
- ATP and MO25alpha cooperate to maintain STRADalpha in an “active” closed conformation required for LKB1 activation. (PMID:19513107)
- study describes structure of the core heterotrimeric LKB1-STRADalpha-MO25alpha complex, revealing an unusual allosteric mechanism of LKB1 activation; structure also reveals how mutations in Peutz-Jeghers syndrome & sporadic cancers impair LKB1 function (PMID:19892943)
- MO25 is a master regulator of SPAK/OSR1 and MST3/MST4/YSK1 protein kinases. (PMID:21423148)
- Authors conclude that miR-451 represses glioma in vitro and in vivo, likely through targeting CAB39 directly and inhibiting the PI3K/AKT pathway indirectly. (PMID:22179124)
- These data provide molecular understanding of the mechanism by which MO25 isoforms regulates the activity of STE20 family protein kinases. (PMID:23296203)
- plays very important oncogenic roles in hepatocellular carcinoma pathogenesis and progression by activating the ERK signaling pathway (PMID:28605041)
- The MO25 binding to SPAK and OSR1 is enhanced by serine phosphorylation in their highly conserved WEWS motif, which is located in their C-terminal domains. (PMID:30060950)
- Upregulation of miR-451 expression suppressed the growth and invasion of glioma cells in vitro and in vivo by targeting CAB39 and modulating the mTOR/HIF-1a/VEGF signaling pathway. (PMID:30180756)
- miR-1265 suppresses gastric cancer progression and oncogenic autophagy by reducing CAB39 expression and regulating the AMPK-mTOR signaling pathway. (PMID:30779944)
- MiR-107 confers chemoresistance to colorectal cancer by targeting calcium-binding protein 39. (PMID:31919406)
- miR-107 inhibition upregulates CAB39 and activates AMPK-Nrf2 signaling to protect osteoblasts from dexamethasone-induced oxidative injury and cytotoxicity. (PMID:32527986)
- CAB39 promotes cisplatin resistance in bladder cancer via the LKB1-AMPK-LC3 pathway. (PMID:37726090)
- miR-451a was selectively sorted into exosomes and promoted the progression of esophageal squamous cell carcinoma through CAB39. (PMID:38649419)
Cross-species orthologs
6 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | cab39 | ENSDARG00000043451 |
| mus_musculus | Cab39 | ENSMUSG00000036707 |
| rattus_norvegicus | Cab39 | ENSRNOG00000017297 |
| drosophila_melanogaster | Mo25 | FBGN0017572 |
| caenorhabditis_elegans | WBGENE00013140 | |
| caenorhabditis_elegans | WBGENE00019827 |
Paralogs (1): CAB39L (ENSG00000102547)
Protein
Protein identifiers
Calcium-binding protein 39 — Q9Y376 (reviewed: Q9Y376)
Alternative names: MO25alpha, Protein Mo25
All UniProt accessions (1): Q9Y376
UniProt curated annotations — full annotation on UniProt →
Function. Component of a complex that binds and activates STK11/LKB1. In the complex, required to stabilize the interaction between CAB39/MO25 (CAB39/MO25alpha or CAB39L/MO25beta) and STK11/LKB1.
Subunit / interactions. Component of a trimeric complex composed of STK11/LKB1, STRAD (STRADA or STRADB) and CAB39/MO25 (CAB39/MO25alpha or CAB39L/MO25beta): the complex tethers STK11/LKB1 in the cytoplasm and stimulates its catalytic activity.
Subcellular location. Cytoplasm.
Similarity. Belongs to the Mo25 family.
RefSeq proteins (3): NP_001124321, NP_001124322, NP_057373* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR011989 | ARM-like | Homologous_superfamily |
| IPR013878 | Mo25 | Family |
| IPR016024 | ARM-type_fold | Homologous_superfamily |
Pfam: PF08569
UniProt features (32 total): helix 25, mutagenesis site 2, turn 2, strand 2, chain 1
Structure
Experimental structures (PDB)
10 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 1UPK | X-RAY DIFFRACTION | 1.85 |
| 3GNI | X-RAY DIFFRACTION | 2.35 |
| 1UPL | X-RAY DIFFRACTION | 2.6 |
| 2WTK | X-RAY DIFFRACTION | 2.65 |
| 8VSU | ELECTRON MICROSCOPY | 2.86 |
| 4FZA | X-RAY DIFFRACTION | 3.15 |
| 4O27 | X-RAY DIFFRACTION | 3.19 |
| 4FZD | X-RAY DIFFRACTION | 3.25 |
| 4NZW | X-RAY DIFFRACTION | 3.58 |
| 4FZF | X-RAY DIFFRACTION | 3.64 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9Y376-F1 | 94.77 | 0.92 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Mutagenesis-validated functional residues (2):
| Position | Phenotype |
|---|---|
| 240 | abolishes activation of stk11/lkb1; when associated with a-243. |
| 243 | abolishes activation of stk11/lkb1; when associated with a-240. |
Function
Pathways and Gene Ontology
Reactome pathways
6 pathways
| ID | Pathway |
|---|---|
| R-HSA-380972 | Energy dependent regulation of mTOR by LKB1-AMPK |
| R-HSA-6798695 | Neutrophil degranulation |
| R-HSA-162582 | Signal Transduction |
| R-HSA-165159 | MTOR signalling |
| R-HSA-168249 | Innate Immune System |
| R-HSA-168256 | Immune System |
MSigDB gene sets: 279 (showing top):
GSE45365_CD8A_DC_VS_CD11B_DC_IFNAR_KO_DN, GOBP_POTASSIUM_ION_TRANSPORT, GOBP_NEGATIVE_REGULATION_OF_TRANSMEMBRANE_TRANSPORT, REACTOME_INNATE_IMMUNE_SYSTEM, TGCGCANK_UNKNOWN, TGCTGCT_MIR15A_MIR16_MIR15B_MIR195_MIR424_MIR497, GOCC_SECRETORY_GRANULE, CHIANG_LIVER_CANCER_SUBCLASS_UNANNOTATED_DN, KYNG_DNA_DAMAGE_DN, GOBP_MONOATOMIC_CATION_TRANSPORT, GOMF_KINASE_ACTIVATOR_ACTIVITY, GOBP_NEGATIVE_REGULATION_OF_TRANSPORT, CATTTCA_MIR203, GOBP_NEGATIVE_REGULATION_OF_POTASSIUM_ION_TRANSPORT, MODULE_239
GO Biological Process (6): signal transduction (GO:0007165), response to activity (GO:0014823), intracellular signal transduction (GO:0035556), cellular hypotonic response (GO:0071476), response to thyroid hormone (GO:0097066), negative regulation of potassium ion transmembrane transport (GO:1901380)
GO Molecular Function (5): kinase binding (GO:0019900), protein kinase activator activity (GO:0030295), protein serine/threonine kinase activator activity (GO:0043539), protein serine/threonine kinase binding (GO:0120283), protein binding (GO:0005515)
GO Cellular Component (9): extracellular region (GO:0005576), cytoplasm (GO:0005737), cytosol (GO:0005829), Z disc (GO:0030018), secretory granule lumen (GO:0034774), extracellular exosome (GO:0070062), serine/threonine protein kinase complex (GO:1902554), ficolin-1-rich granule lumen (GO:1904813), protein-containing complex (GO:0032991)
Reactome top-level categories
Rollup of top-4 pathways:
| Category | Pathways |
|---|---|
| MTOR signalling | 1 |
| Innate Immune System | 1 |
| Signal Transduction | 1 |
| Immune System | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 4 |
| intracellular anatomical structure | 2 |
| cell communication | 1 |
| cellular process | 1 |
| signaling | 1 |
| regulation of cellular process | 1 |
| cellular response to stimulus | 1 |
| response to stimulus | 1 |
| signal transduction | 1 |
| hypotonic response | 1 |
| cellular response to osmotic stress | 1 |
| response to hormone | 1 |
| negative regulation of potassium ion transport | 1 |
| potassium ion transmembrane transport | 1 |
| regulation of potassium ion transmembrane transport | 1 |
| negative regulation of cation transmembrane transport | 1 |
| enzyme binding | 1 |
| protein kinase activity | 1 |
| kinase activator activity | 1 |
| protein kinase regulator activity | 1 |
| protein serine/threonine kinase activity | 1 |
| protein kinase activator activity | 1 |
| protein kinase binding | 1 |
| binding | 1 |
| cytoplasm | 1 |
| I band | 1 |
| secretory granule | 1 |
| cytoplasmic vesicle lumen | 1 |
| extracellular vesicle | 1 |
| protein kinase complex | 1 |
| intracellular organelle lumen | 1 |
| ficolin-1-rich granule | 1 |
| cellular_component | 1 |
Protein interactions and networks
STRING
1042 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| CAB39 | STK11 | Q15831 | 999 |
| CAB39 | STRADA | Q7RTN6 | 999 |
| CAB39 | STRADB | Q9C0K7 | 976 |
| CAB39 | STK24 | Q9Y6E0 | 905 |
| CAB39 | STK25 | O00506 | 837 |
| CAB39 | SNRK | Q9NRH2 | 811 |
| CAB39 | STK39 | Q9UEW8 | 790 |
| CAB39 | OXSR1 | O95747 | 715 |
| CAB39 | STK26 | Q9P289 | 636 |
| CAB39 | DUSP5 | Q16690 | 550 |
| CAB39 | HEY2 | Q9UBP5 | 550 |
| CAB39 | CAMKK2 | Q96RR4 | 542 |
| CAB39 | STK11IP | Q8N1F8 | 520 |
| CAB39 | BRSK1 | Q8TDC3 | 512 |
| CAB39 | MYC | P01106 | 496 |
IntAct
131 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| STK11 | STRADA | psi-mi:“MI:0914”(association) | 0.960 |
| STK11 | CAB39 | psi-mi:“MI:0915”(physical association) | 0.950 |
| CAB39 | STK11 | psi-mi:“MI:0914”(association) | 0.950 |
| CAB39 | STK11 | psi-mi:“MI:0915”(physical association) | 0.950 |
| CAB39 | STK11 | psi-mi:“MI:2364”(proximity) | 0.950 |
| STK11 | FKBP5 | psi-mi:“MI:0914”(association) | 0.910 |
| STK25 | STRN | psi-mi:“MI:0914”(association) | 0.900 |
| CAB39 | STRADB | psi-mi:“MI:0915”(physical association) | 0.770 |
| STRADB | CAB39 | psi-mi:“MI:0403”(colocalization) | 0.770 |
| STRADB | CAB39 | psi-mi:“MI:0915”(physical association) | 0.770 |
| STK11 | HSP90AA1 | psi-mi:“MI:0914”(association) | 0.740 |
| STK25 | CAB39 | psi-mi:“MI:0915”(physical association) | 0.740 |
| STRADA | CAB39 | psi-mi:“MI:0407”(direct interaction) | 0.730 |
| STRADA | CAB39 | psi-mi:“MI:0915”(physical association) | 0.730 |
| CAB39 | STRADA | psi-mi:“MI:0915”(physical association) | 0.730 |
BioGRID (112): CAB39 (Affinity Capture-MS), CAB39 (Affinity Capture-MS), CAB39 (Affinity Capture-MS), CAB39 (Affinity Capture-MS), CAB39 (Affinity Capture-MS), CAB39 (Affinity Capture-MS), AP2B1 (Co-fractionation), CAB39 (Co-fractionation), CAB39 (Co-fractionation), CAB39 (Co-fractionation), CAB39 (Co-fractionation), CAB39 (Co-fractionation), CAB39 (Co-fractionation), CAB39 (Co-fractionation), CAB39 (Co-fractionation)
ESM2 similar proteins: A5D785, F4IZR5, O18211, O35643, O62703, P45437, P52292, P52293, P52303, P55060, P62944, P63009, P63010, P91891, P91926, Q06138, Q08DS7, Q10567, Q26626, Q29G21, Q29N38, Q29RI6, Q2HJG5, Q4S6U8, Q4V8K2, Q5R9J2, Q66HV4, Q6DFT3, Q6IN85, Q6P2K6, Q7KLV9, Q7QG73, Q7ZX60, Q801Q7, Q8AY73, Q8W207, Q8WYA6, Q96QK1, Q9CWL8, Q9DB16
Diamond homologs: O18211, O60032, P32464, P91891, Q06138, Q29RI6, Q9DB16, Q9FGK3, Q9H9S4, Q9M0M4, Q9P7Q8, Q9XFY6, Q9Y376, Q9ZQ77
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 77 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.
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| protein autophosphorylation | 6 | 12.4× | 2e-03 |
| protein phosphorylation | 7 | 6.8× | 6e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
28 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 1 |
| Likely pathogenic | 0 |
| Uncertain significance | 13 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 1526961 | GRCh37/hg19 2q36.3-37.1(chr2:229968217-231883182) | Pathogenic |
SpliceAI
1990 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 2:230713226:GCCCC:G | donor_gain | 1.0000 |
| 2:230759951:T:TA | acceptor_gain | 1.0000 |
| 2:230759957:A:AG | acceptor_gain | 1.0000 |
| 2:230759958:G:GG | acceptor_gain | 1.0000 |
| 2:230759958:GGT:G | acceptor_gain | 1.0000 |
| 2:230759958:GGTA:G | acceptor_gain | 1.0000 |
| 2:230760113:AAGGT:A | donor_loss | 1.0000 |
| 2:230760116:G:GC | donor_loss | 1.0000 |
| 2:230760116:G:GG | donor_gain | 1.0000 |
| 2:230760117:T:A | donor_loss | 1.0000 |
| 2:230790851:A:AG | acceptor_gain | 1.0000 |
| 2:230790864:A:AG | acceptor_gain | 1.0000 |
| 2:230790865:A:G | acceptor_gain | 1.0000 |
| 2:230790866:A:AG | acceptor_gain | 1.0000 |
| 2:230791033:TGAGG:T | donor_loss | 1.0000 |
| 2:230791034:GAG:G | donor_gain | 1.0000 |
| 2:230791035:AGGTA:A | donor_loss | 1.0000 |
| 2:230791036:GGTA:G | donor_loss | 1.0000 |
| 2:230791037:G:GG | donor_gain | 1.0000 |
| 2:230791037:GTAA:G | donor_loss | 1.0000 |
| 2:230791038:T:G | donor_loss | 1.0000 |
| 2:230798723:TTGCA:T | acceptor_loss | 1.0000 |
| 2:230798724:TGCA:T | acceptor_loss | 1.0000 |
| 2:230798725:GCAGG:G | acceptor_loss | 1.0000 |
| 2:230798726:CAG:C | acceptor_loss | 1.0000 |
| 2:230798728:G:GC | acceptor_loss | 1.0000 |
| 2:230798893:TCAAG:T | donor_loss | 1.0000 |
| 2:230798894:CAAG:C | donor_loss | 1.0000 |
| 2:230798895:AAGGT:A | donor_loss | 1.0000 |
| 2:230798896:AG:A | donor_loss | 1.0000 |
AlphaMissense
0 scored. Top likely-pathogenic:
dbSNP variants (sampled 300 via entrez): RS1000015704 (2:230813230 G>C), RS1000042018 (2:230803763 G>A), RS1000054590 (2:230722620 A>T), RS1000100281 (2:230756279 A>G,T), RS1000108818 (2:230797617 C>G), RS1000137238 (2:230783847 A>G), RS1000146274 (2:230765830 G>A,T), RS1000154554 (2:230716860 C>T), RS1000156576 (2:230725500 C>A,T), RS1000164277 (2:230765995 A>C,T), RS1000237397 (2:230731605 T>A), RS1000271126 (2:230797935 G>T), RS1000286279 (2:230778725 C>T), RS1000316486 (2:230719859 T>C), RS1000316582 (2:230759932 T>G)
Disease associations
OMIM: gene MIM:612174 | 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: yes
ChEMBL targets (2): CHEMBL2010621 (SINGLE PROTEIN), CHEMBL3885534 (PROTEIN COMPLEX)
PharmGKB: 1 entry (VIP=true, CPIC=false)
ChEMBL bioactivities
4 potent at pChembl≥5 of 4 total, top 4 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
| pChembl | Type | Value | Unit | Molecule |
|---|---|---|---|---|
| 8.11 | Kd | 7.818 | nM | CHEMBL5653589 |
| 8.11 | ED50 | 7.818 | nM | CHEMBL5653589 |
| 6.80 | Kd | 157.3 | nM | CHEMBL3752910 |
| 6.80 | ED50 | 157.3 | nM | CHEMBL3752910 |
PubChem BioAssay actives
2 with measured affinity, of 9 total; 2 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.
| Compound | Assay | Type | Value | Unit |
|---|---|---|---|---|
| 4-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide | 2147976: Binding affinity to human CAB39 incubated for 45 mins by Kinobead based pull down assay | kd | 0.0078 | uM |
| 4-methyl-3-[(1-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide | 2147976: Binding affinity to human CAB39 incubated for 45 mins by Kinobead based pull down assay | kd | 0.1573 | uM |
CTD chemical–gene interactions
34 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol A | decreases expression, increases expression | 2 |
| Tobacco Smoke Pollution | increases expression, affects expression | 2 |
| dicrotophos | decreases expression | 1 |
| geldanamycin | increases expression | 1 |
| beta-lapachone | increases expression | 1 |
| arsenite | affects binding, decreases reaction | 1 |
| sodium arsenite | decreases expression | 1 |
| benzo(e)pyrene | decreases methylation | 1 |
| K 7174 | increases expression | 1 |
| abrine | increases expression | 1 |
| 2-methyl-2H-pyrazole-3-carboxylic acid (2-methyl-4-o-tolylazophenyl)amide | decreases reaction, increases expression | 1 |
| bisphenol S | increases methylation, affects cotreatment | 1 |
| jinfukang | decreases expression | 1 |
| Resveratrol | affects cotreatment, increases expression | 1 |
| Fulvestrant | affects cotreatment, increases methylation | 1 |
| Vehicle Emissions | decreases reaction, increases expression | 1 |
| Benzo(a)pyrene | affects methylation | 1 |
| Calcitriol | increases expression | 1 |
| Camptothecin | decreases expression | 1 |
| Daunorubicin | decreases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Etoposide | decreases expression | 1 |
| Ivermectin | decreases expression | 1 |
| Methapyrilene | decreases methylation | 1 |
| Methyl Methanesulfonate | decreases expression | 1 |
| Plant Extracts | affects cotreatment, increases expression | 1 |
| Ribonucleotides | affects binding | 1 |
| Rotenone | increases expression | 1 |
| Smoke | decreases expression | 1 |
| Thiram | increases expression | 1 |
ChEMBL screening assays
7 unique, capped per target: 7 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL5651018 | Binding | Binding affinity to human CAB39 incubated for 45 mins by Kinobead based pull down assay | NVP-BHG712: Effects of Regioisomers on the Affinity and Selectivity toward the EPHrin Family. — ChemMedChem |
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.