STK40
gene geneOn this page
Also known as MGC4796SgK495SHIK
Summary
STK40 (serine/threonine kinase 40, HGNC:21373) is a protein-coding gene on chromosome 1p34.3, encoding Serine/threonine-protein kinase 40 (Q8N2I9). May be a negative regulator of NF-kappa-B and p53-mediated gene transcription. It is a selective cancer dependency (DepMap: 11.0% of cell lines).
Predicted to enable ATP binding activity; protein serine kinase activity; and protein serine/threonine kinase activity. Predicted to be involved in regulation of MAPK cascade. Predicted to act upstream of or within several processes, including glycogen metabolic process; lung development; and respiratory system process. Located in cytosol and nucleoplasm.
Source: NCBI Gene 83931 — RefSeq curated summary.
At a glance
- GWAS associations: 1
- Clinical variants (ClinVar): 77 total
- Cancer dependency (DepMap): dependent in 11.0% of screened cell lines
- MANE Select transcript:
NM_001282547
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:21373 |
| Approved symbol | STK40 |
| Name | serine/threonine kinase 40 |
| Location | 1p34.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | MGC4796, SgK495, SHIK |
| Ensembl gene | ENSG00000196182 |
| Ensembl biotype | protein_coding |
| OMIM | 609437 |
| Entrez | 83931 |
Gene structure
Transcript identifiers
Ensembl transcripts: 35 — 31 protein_coding, 4 protein_coding_CDS_not_defined
ENST00000359297, ENST00000373129, ENST00000373130, ENST00000373132, ENST00000460017, ENST00000460417, ENST00000473733, ENST00000482458, ENST00000852853, ENST00000852854, ENST00000852855, ENST00000852856, ENST00000852857, ENST00000852858, ENST00000852859, ENST00000852860, ENST00000852861, ENST00000852862, ENST00000852863, ENST00000852864, ENST00000852865, ENST00000852866, ENST00000852867, ENST00000852868, ENST00000936576, ENST00000956511, ENST00000956512, ENST00000956513, ENST00000956514, ENST00000956515, ENST00000956516, ENST00000956517, ENST00000956518, ENST00000956519, ENST00000956520
RefSeq mRNA: 3 — MANE Select: NM_001282547
NM_001282546, NM_001282547, NM_032017
CCDS: CCDS407, CCDS60089
Canonical transcript exons
ENST00000373132 — 11 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000000186 | 36339628 | 36341973 |
| ENSE00000955892 | 36344120 | 36344264 |
| ENSE00000955893 | 36343860 | 36343979 |
| ENSE00001201134 | 36354364 | 36354416 |
| ENSE00001201136 | 36355206 | 36355433 |
| ENSE00001201162 | 36348700 | 36348815 |
| ENSE00001281500 | 36385723 | 36385924 |
| ENSE00001310889 | 36343364 | 36343448 |
| ENSE00003512616 | 36358737 | 36358822 |
| ENSE00003515013 | 36358239 | 36358382 |
| ENSE00003684910 | 36361221 | 36361340 |
Expression profiles
Bgee: expression breadth ubiquitous, 217 present calls, max score 96.25.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 25.0407 / max 858.1368, expressed in 1812 samples.
FANTOM5 promoters (6 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 11723 | 23.6895 | 1812 |
| 11721 | 0.7938 | 255 |
| 11722 | 0.3121 | 114 |
| 11720 | 0.1840 | 75 |
| 11719 | 0.0533 | 6 |
| 11718 | 0.0080 | 2 |
Top tissues by expression
239 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| gastrocnemius | UBERON:0001388 | 96.25 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 95.93 | gold quality |
| muscle of leg | UBERON:0001383 | 95.81 | gold quality |
| blood | UBERON:0000178 | 95.48 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 95.02 | gold quality |
| granulocyte | CL:0000094 | 94.82 | gold quality |
| left testis | UBERON:0004533 | 94.12 | gold quality |
| right testis | UBERON:0004534 | 93.85 | gold quality |
| leukocyte | CL:0000738 | 93.78 | gold quality |
| monocyte | CL:0000576 | 93.65 | gold quality |
| lower esophagus | UBERON:0013473 | 93.40 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 93.38 | gold quality |
| apex of heart | UBERON:0002098 | 93.33 | gold quality |
| right coronary artery | UBERON:0001625 | 93.27 | gold quality |
| islet of Langerhans | UBERON:0000006 | 93.23 | gold quality |
| popliteal artery | UBERON:0002250 | 92.97 | gold quality |
| tibial artery | UBERON:0007610 | 92.96 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 92.69 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 92.69 | gold quality |
| aorta | UBERON:0000947 | 92.56 | gold quality |
| esophagus | UBERON:0001043 | 92.43 | gold quality |
| amniotic fluid | UBERON:0000173 | 92.39 | gold quality |
| testis | UBERON:0000473 | 92.18 | gold quality |
| ascending aorta | UBERON:0001496 | 92.18 | gold quality |
| thoracic aorta | UBERON:0001515 | 92.16 | gold quality |
| heart left ventricle | UBERON:0002084 | 91.92 | gold quality |
| esophagus mucosa | UBERON:0002469 | 91.82 | gold quality |
| cardiac ventricle | UBERON:0002082 | 91.67 | gold quality |
| right ovary | UBERON:0002118 | 91.62 | gold quality |
| right atrium auricular region | UBERON:0006631 | 91.62 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 10.21 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): POU5F1
miRNA regulators (miRDB)
157 targeting STK40, 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-6798-5P | 100.00 | 65.77 | 699 |
| HSA-MIR-12118 | 100.00 | 65.88 | 1270 |
| HSA-MIR-450A-1-3P | 100.00 | 69.33 | 1837 |
| 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-4747-5P | 100.00 | 67.90 | 2681 |
| HSA-MIR-5196-5P | 100.00 | 67.98 | 2761 |
| HSA-MIR-4692 | 100.00 | 67.32 | 2066 |
| HSA-MIR-3120-5P | 100.00 | 65.56 | 965 |
| HSA-MIR-4283 | 100.00 | 66.42 | 2097 |
| HSA-MIR-4500 | 99.99 | 72.72 | 2367 |
| HSA-MIR-4514 | 99.99 | 67.10 | 1870 |
| HSA-MIR-6077 | 99.99 | 68.04 | 2299 |
| 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-3173-3P | 99.98 | 66.49 | 1217 |
| HSA-MIR-6891-5P | 99.98 | 66.53 | 1372 |
| HSA-LET-7D-5P | 99.96 | 71.76 | 1632 |
| HSA-MIR-4458 | 99.96 | 71.64 | 1650 |
| HSA-MIR-6825-5P | 99.96 | 69.81 | 3431 |
| HSA-MIR-4725-3P | 99.96 | 69.53 | 2520 |
| HSA-MIR-6780B-5P | 99.96 | 69.60 | 2562 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 11.0% of screened cell lines.
Literature-anchored findings (GeneRIF, showing 5)
- identification as a negative regulator of NF-kappaB- and p53-mediated gene transcription [SINK-homologous serine-threonine kinase] (PMID:13679039)
- STK40 binds the COP1 WD40 domain using a VPD/E motif in its C-terminal tail. (PMID:28089446)
- STK40 and LATS2 are conserved miR-31 target genes that have roles in regulation of keratinocyte growth and hair follicle biology (PMID:28419554)
- Construction and validation of a novel senescence-related risk score can help predict the prognosis and tumor microenvironment of gastric cancer patients and determine that STK40 can affect the ROS accumulation and proliferation ability of gastric cancer cells. (PMID:37915566)
- STK40 inhibits trophoblast fusion by mediating COP1 ubiquitination to degrade P57[Kip2]. (PMID:39304928)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | stk40 | ENSDARG00000098135 |
| mus_musculus | Stk40 | ENSMUSG00000042608 |
| rattus_norvegicus | Stk40 | ENSRNOG00000025679 |
| drosophila_melanogaster | trbl | FBGN0028978 |
Paralogs (3): TRIB2 (ENSG00000071575), TRIB3 (ENSG00000101255), TRIB1 (ENSG00000173334)
Protein
Protein identifiers
Serine/threonine-protein kinase 40 — Q8N2I9 (reviewed: Q8N2I9)
Alternative names: SINK-homologous serine/threonine-protein kinase, Sugen kinase 495
All UniProt accessions (1): Q8N2I9
UniProt curated annotations — full annotation on UniProt →
Function. May be a negative regulator of NF-kappa-B and p53-mediated gene transcription.
Subcellular location. Nucleus. Cytoplasm.
Tissue specificity. Strongly expressed in heart, brain, placenta, lung, skeletal muscle, kidney, spleen, thymus, prostate, liver, pancreas, testis, ovary, small intestine, colon and peripheral blood leukocytes.
Similarity. Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family.
Isoforms (4)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q8N2I9-1 | 1 | yes |
| Q8N2I9-2 | 2 | |
| Q8N2I9-3 | 3 | |
| Q8N2I9-4 | 4 |
RefSeq proteins (3): NP_001269475, NP_001269476, NP_114406 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000719 | Prot_kinase_dom | Domain |
| IPR008271 | Ser/Thr_kinase_AS | Active_site |
| IPR011009 | Kinase-like_dom_sf | Homologous_superfamily |
| IPR024104 | Tribbles/Ser_Thr_kinase_40 | Family |
| IPR024236 | Ser/Thr_kinase_40 | Family |
Pfam: PF00069
Catalyzed reactions (Rhea), 2 shown:
- L-seryl-[protein] + ATP = O-phospho-L-seryl-[protein] + ADP + H(+) (RHEA:17989)
- L-threonyl-[protein] + ATP = O-phospho-L-threonyl-[protein] + ADP + H(+) (RHEA:46608)
UniProt features (42 total): helix 11, strand 10, splice variant 5, sequence variant 4, turn 3, sequence conflict 2, binding site 2, chain 1, domain 1, region of interest 1, compositionally biased region 1, active site 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 5L2Q | X-RAY DIFFRACTION | 2.53 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8N2I9-F1 | 78.26 | 0.57 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Catalytic / active sites (1): 196 (proton acceptor)
Ligand- & substrate-binding residues (2): 41–49; 66
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 265 (showing top):
GOBP_RESPIRATORY_GASEOUS_EXCHANGE_BY_RESPIRATORY_SYSTEM, MYOGENIN_Q6, PEREZ_TP63_TARGETS, GOBP_GROWTH, GOBP_LUNG_MORPHOGENESIS, GOBP_RESPIRATORY_SYSTEM_PROCESS, GOBP_GENERATION_OF_PRECURSOR_METABOLITES_AND_ENERGY, CEBP_Q2, GOBP_ANIMAL_ORGAN_MORPHOGENESIS, HEN1_01, chr1p34, GOBP_MULTICELLULAR_ORGANISM_GROWTH, GOBP_CARBOHYDRATE_METABOLIC_PROCESS, TGANTCA_AP1_C, LASTOWSKA_NEUROBLASTOMA_COPY_NUMBER_DN
GO Biological Process (10): respiratory system process (GO:0003016), glycogen metabolic process (GO:0005977), regulation of gene expression (GO:0010468), multicellular organism growth (GO:0035264), negative regulation of apoptotic process (GO:0043066), regulation of MAPK cascade (GO:0043408), lung alveolus development (GO:0048286), lung morphogenesis (GO:0060425), protein phosphorylation (GO:0006468), lung development (GO:0030324)
GO Molecular Function (8): protein serine/threonine kinase activity (GO:0004674), ATP binding (GO:0005524), protein serine kinase activity (GO:0106310), nucleotide binding (GO:0000166), protein kinase activity (GO:0004672), protein binding (GO:0005515), kinase activity (GO:0016301), transferase activity (GO:0016740)
GO Cellular Component (4): nucleoplasm (GO:0005654), cytosol (GO:0005829), nucleus (GO:0005634), cytoplasm (GO:0005737)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| lung development | 2 |
| protein kinase activity | 2 |
| system process | 1 |
| respiratory gaseous exchange by respiratory system | 1 |
| energy reserve metabolic process | 1 |
| glucan metabolic process | 1 |
| gene expression | 1 |
| regulation of macromolecule biosynthetic process | 1 |
| multicellular organismal process | 1 |
| developmental growth | 1 |
| apoptotic process | 1 |
| regulation of apoptotic process | 1 |
| negative regulation of programmed cell death | 1 |
| MAPK cascade | 1 |
| regulation of intracellular signal transduction | 1 |
| anatomical structure development | 1 |
| animal organ morphogenesis | 1 |
| phosphorylation | 1 |
| protein modification process | 1 |
| respiratory tube development | 1 |
| animal organ development | 1 |
| respiratory system development | 1 |
| adenyl ribonucleotide binding | 1 |
| purine ribonucleoside triphosphate binding | 1 |
| nucleoside phosphate binding | 1 |
| heterocyclic compound binding | 1 |
| kinase activity | 1 |
| phosphotransferase activity, alcohol group as acceptor | 1 |
| catalytic activity, acting on a protein | 1 |
| binding | 1 |
| transferase activity, transferring phosphorus-containing groups | 1 |
| catalytic activity | 1 |
| nuclear lumen | 1 |
| cytoplasm | 1 |
| intracellular membrane-bounded organelle | 1 |
| intracellular anatomical structure | 1 |
Protein interactions and networks
STRING
1381 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| STK40 | RIBC2 | Q9H4K1 | 490 |
| STK40 | PPP6C | O00743 | 473 |
| STK40 | RCN2 | Q14257 | 464 |
| STK40 | OSCP1 | Q8WVF1 | 432 |
| STK40 | MRPS15 | P82914 | 427 |
| STK40 | VAC14 | Q08AM6 | 416 |
| STK40 | STRADA | Q7RTN6 | 401 |
| STK40 | KPNA6 | O60684 | 398 |
| STK40 | PSMD3 | O43242 | 390 |
| STK40 | MAST2 | Q6P0Q8 | 389 |
| STK40 | USP33 | Q8TEY7 | 389 |
| STK40 | VRK3 | Q8IV63 | 389 |
| STK40 | DNAJB4 | Q9UDY4 | 387 |
| STK40 | CTC1 | Q2NKJ3 | 383 |
| STK40 | PDIK1L | Q8N165 | 381 |
IntAct
60 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| FOS | JUN | psi-mi:“MI:0914”(association) | 0.980 |
| FOSL2 | JUN | psi-mi:“MI:0914”(association) | 0.930 |
| ATF6 | ATF6 | psi-mi:“MI:0914”(association) | 0.790 |
| STK40 | TRIB1 | psi-mi:“MI:0915”(physical association) | 0.740 |
| FOSB | JUN | psi-mi:“MI:0914”(association) | 0.690 |
| TRIB3 | STK40 | psi-mi:“MI:0914”(association) | 0.640 |
| STK40 | SLIRP | psi-mi:“MI:0915”(physical association) | 0.560 |
| TRIB2 | POTEF | psi-mi:“MI:0914”(association) | 0.530 |
| ZNF397 | ZNF197 | psi-mi:“MI:0914”(association) | 0.530 |
| FOSL2 | ZZEF1 | psi-mi:“MI:0914”(association) | 0.530 |
| ETV5 | DET1 | psi-mi:“MI:0914”(association) | 0.530 |
| FOS | YEATS4 | psi-mi:“MI:0914”(association) | 0.530 |
| DET1 | UBE2E1 | psi-mi:“MI:0914”(association) | 0.530 |
| NFIL3 | STK40 | psi-mi:“MI:0914”(association) | 0.530 |
| STK40 | COP1 | psi-mi:“MI:0914”(association) | 0.530 |
| TRIB2 | UBE2E1 | psi-mi:“MI:0914”(association) | 0.530 |
| Ogn | STK40 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| STK40 | LRRK2 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| Ufl1 | PRSS1 | psi-mi:“MI:0914”(association) | 0.350 |
| FOS | TRAPPC13 | psi-mi:“MI:0914”(association) | 0.350 |
| JUN | psi-mi:“MI:0914”(association) | 0.350 | |
| SNX11 | CHEK1 | psi-mi:“MI:0914”(association) | 0.350 |
| JUNB | PPP1R12A | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (102): STK40 (Affinity Capture-RNA), STK40 (Affinity Capture-MS), STK40 (Affinity Capture-MS), STK40 (Affinity Capture-MS), STK40 (Affinity Capture-MS), STK40 (Affinity Capture-MS), STK40 (Affinity Capture-MS), RFWD2 (Affinity Capture-MS), TRIB1 (Affinity Capture-MS), STK40 (Affinity Capture-MS), STK40 (Affinity Capture-MS), STK40 (Co-fractionation), STK40 (Affinity Capture-MS), STK40 (Affinity Capture-MS), STK40 (Affinity Capture-MS)
ESM2 similar proteins: A2AJ88, B3MRI9, B3NY03, B4H3U8, B4IL64, B4JLX2, B4L535, B4M709, B4N1W9, B4Q0P3, B5DKS8, D3ZEF4, O08703, O08962, O35219, O54853, P25848, P59111, P97414, Q02331, Q12809, Q14999, Q17QV9, Q21534, Q3TRM4, Q5BK26, Q5R667, Q5RCJ3, Q5RDS0, Q5TEA3, Q67E00, Q67E01, Q6CF18, Q6ZV29, Q7TNL3, Q7TT23, Q8IY17, Q8N2I9, Q8RY24, Q8VE73
Diamond homologs: A2X6X1, A5A7I8, A8WRV1, F1MH24, F1SPM8, F4I4F2, G5ECQ3, O13839, O14976, O34507, O43066, O75716, O77676, O88697, P00516, P00517, P05130, P05132, P0C1X8, P0C605, P17157, P17612, P17948, P25321, P31374, P32023, P33981, P34100, P34331, P35761, P35916, P35917, P35969, P38070, P38080, P40494, P53767, P53974, P54119, P57760
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| STK40 | “down-regulates quantity by destabilization” | CEBPB | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 55 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 |
|---|---|---|---|
| NGF-stimulated transcription | 6 | 51.9× | 3e-07 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| positive regulation of proteasomal ubiquitin-dependent protein catabolic process | 6 | 26.3× | 5e-05 |
| response to xenobiotic stimulus | 6 | 8.6× | 5e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
77 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 55 |
| Likely benign | 5 |
| Benign | 2 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2124 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 1:36341969:TTCGC:T | acceptor_gain | 1.0000 |
| 1:36341970:TCGC:T | acceptor_gain | 1.0000 |
| 1:36341971:CGC:C | acceptor_gain | 1.0000 |
| 1:36341971:CGCC:C | acceptor_gain | 1.0000 |
| 1:36341974:C:CC | acceptor_gain | 1.0000 |
| 1:36341975:T:C | acceptor_gain | 1.0000 |
| 1:36341976:T:C | acceptor_gain | 1.0000 |
| 1:36341976:T:TC | acceptor_gain | 1.0000 |
| 1:36341982:C:CT | acceptor_gain | 1.0000 |
| 1:36341983:G:T | acceptor_gain | 1.0000 |
| 1:36341990:G:C | acceptor_gain | 1.0000 |
| 1:36341990:G:GC | acceptor_gain | 1.0000 |
| 1:36343362:ACCT:A | donor_gain | 1.0000 |
| 1:36343363:CCTC:C | donor_gain | 1.0000 |
| 1:36343445:CTGC:C | acceptor_gain | 1.0000 |
| 1:36343449:C:CC | acceptor_gain | 1.0000 |
| 1:36343855:CTTA:C | donor_loss | 1.0000 |
| 1:36343856:TTACC:T | donor_loss | 1.0000 |
| 1:36343857:TAC:T | donor_loss | 1.0000 |
| 1:36343858:A:AC | donor_gain | 1.0000 |
| 1:36343858:AC:A | donor_gain | 1.0000 |
| 1:36343859:C:CG | donor_gain | 1.0000 |
| 1:36343859:CC:C | donor_gain | 1.0000 |
| 1:36343859:CCA:C | donor_gain | 1.0000 |
| 1:36343859:CCAT:C | donor_gain | 1.0000 |
| 1:36343859:CCATG:C | donor_gain | 1.0000 |
| 1:36343975:CATCC:C | acceptor_gain | 1.0000 |
| 1:36343977:TCC:T | acceptor_gain | 1.0000 |
| 1:36343978:CC:C | acceptor_gain | 1.0000 |
| 1:36343978:CCC:C | acceptor_gain | 1.0000 |
AlphaMissense
2855 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 1:36343912:G:T | R318S | 1.000 |
| 1:36343932:A:G | L311P | 1.000 |
| 1:36343935:A:G | L310P | 1.000 |
| 1:36343944:A:T | I307N | 1.000 |
| 1:36344147:A:C | I286S | 1.000 |
| 1:36344147:A:G | I286T | 1.000 |
| 1:36344147:A:T | I286N | 1.000 |
| 1:36344148:T:A | I286F | 1.000 |
| 1:36344155:G:C | F283L | 1.000 |
| 1:36344155:G:T | F283L | 1.000 |
| 1:36344156:A:G | F283S | 1.000 |
| 1:36344157:A:C | F283V | 1.000 |
| 1:36344157:A:G | F283L | 1.000 |
| 1:36344159:A:G | L282P | 1.000 |
| 1:36344159:A:T | L282H | 1.000 |
| 1:36344182:G:C | F274L | 1.000 |
| 1:36344182:G:T | F274L | 1.000 |
| 1:36344183:A:C | F274C | 1.000 |
| 1:36344183:A:G | F274S | 1.000 |
| 1:36344184:A:C | F274V | 1.000 |
| 1:36344184:A:G | F274L | 1.000 |
| 1:36344184:A:T | F274I | 1.000 |
| 1:36344186:G:C | P273R | 1.000 |
| 1:36344186:G:T | P273H | 1.000 |
| 1:36344187:G:A | P273S | 1.000 |
| 1:36344187:G:T | P273T | 1.000 |
| 1:36344188:G:C | F272L | 1.000 |
| 1:36344188:G:T | F272L | 1.000 |
| 1:36344189:A:C | F272C | 1.000 |
| 1:36344189:A:G | F272S | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000000046 (1:36363692 G>A,T), RS1000126281 (1:36340985 C>A), RS1000132124 (1:36377467 A>C,T), RS1000289634 (1:36368992 T>A,C), RS1000427288 (1:36386272 G>A), RS1000483559 (1:36342466 A>C,G), RS1000498770 (1:36380599 G>A,C), RS1000558766 (1:36342207 CAG>C), RS1000929891 (1:36359134 T>C), RS1001014279 (1:36375594 C>T), RS1001059302 (1:36386579 C>G), RS1001087790 (1:36375911 A>C), RS1001166235 (1:36363062 C>T), RS1001246000 (1:36356715 T>A,G), RS1001402478 (1:36365078 G>A,C)
Disease associations
OMIM: gene MIM:609437 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
1 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST90002398_48 | Neutrophil count | 1.000000e-09 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004833 | neutrophil count |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
GtoPdb / IUPHAR curated pharmacology
(IUPHAR/BPS Guide to Pharmacology — expert-curated)
Target class: enzyme — CAMK-unique family
CTD chemical–gene interactions
40 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Cyclosporine | increases expression | 3 |
| sodium arsenite | affects cotreatment, increases abundance, increases expression | 2 |
| potassium chromate(VI) | increases expression, affects cotreatment, decreases expression | 2 |
| Arsenic | affects methylation, affects cotreatment, increases abundance, increases expression | 2 |
| methylmercuric chloride | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| bisphenol A | affects expression | 1 |
| beta-lapachone | decreases expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | increases expression | 1 |
| manganese chloride | affects cotreatment, increases abundance, increases expression | 1 |
| hydroquinone | increases expression | 1 |
| beta-methylcholine | affects expression | 1 |
| epigallocatechin gallate | affects cotreatment, decreases expression | 1 |
| chromium hexavalent ion | affects expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| entinostat | decreases expression | 1 |
| abrine | increases expression | 1 |
| PCI 5002 | affects cotreatment, increases expression | 1 |
| NSC668394 | increases expression | 1 |
| Temozolomide | decreases expression | 1 |
| Sunitinib | increases expression | 1 |
| Zoledronic Acid | decreases expression | 1 |
| Acetaminophen | increases expression | 1 |
| Air Pollutants | affects expression, increases abundance | 1 |
| Benzene | increases expression | 1 |
| Benzo(a)pyrene | affects methylation, increases methylation | 1 |
| Carbamazepine | affects expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Manganese | affects cotreatment, increases abundance, increases expression | 1 |
| Ozone | affects expression, increases abundance | 1 |
Cellosaurus cell lines
2 cell lines: 2 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_B2HS | Abcam HeLa STK40 KO | Cancer cell line | Female |
| CVCL_TQ97 | HAP1 STK40 (-) | 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.