STK32B
geneOn this page
Also known as STKG6YANK2STK32HSA250839
Summary
STK32B (serine/threonine kinase 32B, HGNC:14217) is a protein-coding gene on chromosome 4p16.2, encoding Serine/threonine-protein kinase 32B (Q9NY57).
This gene encodes a serine-threonine protein kinase. Serine-threonine kinases transfer phosphate molecules to the oxygen atoms of serine and threonine. A genomic deletion affecting this gene has been associated with Ellis-van Creveld syndrome, an autosomal recessive skeletal dysplasia. Alternative splicing results in multiple transcript variants.
Source: NCBI Gene 55351 — RefSeq curated summary.
At a glance
- GWAS associations: 11
- Clinical variants (ClinVar): 107 total
- Druggable target: yes — 5 molecules with ChEMBL bioactivity
- MANE Select transcript:
NM_018401
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:14217 |
| Approved symbol | STK32B |
| Name | serine/threonine kinase 32B |
| Location | 4p16.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | STKG6, YANK2, STK32, HSA250839 |
| Ensembl gene | ENSG00000152953 |
| Ensembl biotype | protein_coding |
| OMIM | 621309 |
| Entrez | 55351 |
Gene structure
Transcript identifiers
Ensembl transcripts: 9 — 4 protein_coding, 3 protein_coding_CDS_not_defined, 1 retained_intron, 1 nonsense_mediated_decay
ENST00000282908, ENST00000505508, ENST00000508728, ENST00000510398, ENST00000511959, ENST00000512018, ENST00000512636, ENST00000513705, ENST00000858431
RefSeq mRNA: 3 — MANE Select: NM_018401
NM_001306082, NM_001345969, NM_018401
CCDS: CCDS3380, CCDS77895
Canonical transcript exons
ENST00000282908 — 12 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001134909 | 5498945 | 5500989 |
| ENSE00002042473 | 5051480 | 5051915 |
| ENSE00003483724 | 5460103 | 5460228 |
| ENSE00003522568 | 5331220 | 5331393 |
| ENSE00003544445 | 5466703 | 5466834 |
| ENSE00003557280 | 5168299 | 5168450 |
| ENSE00003569809 | 5468006 | 5468070 |
| ENSE00003593772 | 5446673 | 5446776 |
| ENSE00003604538 | 5416845 | 5416934 |
| ENSE00003615133 | 5398207 | 5398244 |
| ENSE00003617576 | 5139905 | 5139960 |
| ENSE00003642195 | 5456807 | 5456923 |
Expression profiles
Bgee: expression breadth ubiquitous, 177 present calls, max score 92.00.
FANTOM5 (CAGE): breadth broad, TPM avg 3.0390 / max 130.4464, expressed in 791 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 46751 | 2.6027 | 746 |
| 46750 | 0.2074 | 104 |
| 46752 | 0.1539 | 76 |
| 46749 | 0.0750 | 25 |
Top tissues by expression
277 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| secondary oocyte | CL:0000655 | 92.00 | gold quality |
| buccal mucosa cell | CL:0002336 | 86.93 | silver quality |
| oocyte | CL:0000023 | 86.35 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 85.70 | gold quality |
| cortical plate | UBERON:0005343 | 83.97 | gold quality |
| right testis | UBERON:0004534 | 80.75 | gold quality |
| tibia | UBERON:0000979 | 80.26 | gold quality |
| left testis | UBERON:0004533 | 79.91 | gold quality |
| testis | UBERON:0000473 | 78.75 | gold quality |
| adult mammalian kidney | UBERON:0000082 | 77.69 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 76.00 | gold quality |
| metanephros cortex | UBERON:0010533 | 73.97 | gold quality |
| kidney | UBERON:0002113 | 73.81 | gold quality |
| germinal epithelium of ovary | UBERON:0001304 | 73.29 | silver quality |
| islet of Langerhans | UBERON:0000006 | 71.89 | gold quality |
| thymus | UBERON:0002370 | 71.50 | silver quality |
| medial globus pallidus | UBERON:0002477 | 71.03 | gold quality |
| cortex of kidney | UBERON:0001225 | 70.99 | gold quality |
| skin of hip | UBERON:0001554 | 70.70 | silver quality |
| body of stomach | UBERON:0001161 | 69.77 | gold quality |
| subcutaneous adipose tissue | UBERON:0002190 | 69.66 | gold quality |
| cartilage tissue | UBERON:0002418 | 69.13 | silver quality |
| stomach | UBERON:0000945 | 69.01 | gold quality |
| hypothalamus | UBERON:0001898 | 68.74 | gold quality |
| ascending aorta | UBERON:0001496 | 68.45 | gold quality |
| amygdala | UBERON:0001876 | 68.44 | gold quality |
| sural nerve | UBERON:0015488 | 68.44 | gold quality |
| ectocervix | UBERON:0012249 | 68.26 | gold quality |
| thoracic aorta | UBERON:0001515 | 68.18 | gold quality |
| omental fat pad | UBERON:0010414 | 67.68 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-CURD-119 | yes | 54.46 |
| E-ANND-3 | yes | 5.09 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
106 targeting STK32B, 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-1252-5P | 100.00 | 69.80 | 2774 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-6870-5P | 99.99 | 68.55 | 2115 |
| HSA-MIR-568 | 99.98 | 69.86 | 2084 |
| HSA-MIR-19A-3P | 99.98 | 75.33 | 2762 |
| HSA-MIR-19B-3P | 99.98 | 75.44 | 2754 |
| HSA-MIR-12136 | 99.98 | 72.81 | 5713 |
| HSA-MIR-507 | 99.97 | 70.11 | 1915 |
| HSA-MIR-4723-5P | 99.97 | 68.70 | 2034 |
| HSA-MIR-5698 | 99.97 | 68.49 | 2029 |
| HSA-MIR-7111-5P | 99.97 | 68.48 | 2062 |
| HSA-MIR-495-3P | 99.96 | 72.81 | 4197 |
| HSA-MIR-5688 | 99.96 | 73.23 | 4504 |
| HSA-MIR-3658 | 99.96 | 73.87 | 4379 |
| HSA-MIR-557 | 99.96 | 70.01 | 1640 |
| HSA-MIR-4267 | 99.96 | 66.53 | 2368 |
| HSA-MIR-2110 | 99.96 | 66.68 | 1930 |
| HSA-MIR-6825-5P | 99.96 | 69.81 | 3431 |
| HSA-MIR-767-5P | 99.95 | 70.85 | 993 |
| HSA-MIR-9718 | 99.94 | 68.91 | 918 |
| HSA-MIR-6721-5P | 99.93 | 68.92 | 2981 |
| HSA-MIR-7-1-3P | 99.91 | 71.53 | 4384 |
| HSA-MIR-7-2-3P | 99.91 | 71.40 | 4394 |
| HSA-MIR-498-3P | 99.91 | 71.27 | 1114 |
| HSA-MIR-3671 | 99.90 | 73.04 | 3897 |
| HSA-MIR-6783-3P | 99.89 | 67.92 | 2059 |
| HSA-MIR-1343-3P | 99.89 | 66.78 | 1815 |
| HSA-MIR-548D-3P | 99.87 | 70.67 | 4362 |
| HSA-MIR-6857-5P | 99.87 | 65.32 | 985 |
| HSA-MIR-4492 | 99.87 | 68.25 | 3611 |
Literature-anchored findings (GeneRIF, showing 7)
- In a consanguineous pedigree diagnosed with EvC and borderline intelligence, a 520-kb homozygous deletion comprising EVC, EVC2, C4orf6, and STK32B, caused by recombination between LINE-1 elements, was detected (PMID:18454448)
- STK32B and EVC yielded consistent evidence from cleft lip, with or without cleft palate, trios in all four populations. (PMID:20087401)
- STK32B association with essential tremor. (PMID:27797806)
- C allele of rs10937625 in STK32B is a protective factor for essential tremor in Chinese population. (PMID:28801652)
- This results of this study provided evidence that shifts in DNA methylation within the STK32B promoter are associated with a modulated risk profile for generalized anxiety disorder in adolescence. (PMID:29604450)
- Association Analysis of 27 Single Nucleotide Polymorphisms in a Chinese Population with Essential Tremor. (PMID:36929462)
- YANK2 activated by Fyn promotes glioma tumorigenesis via the mTOR-independent p70S6K activation pathway. (PMID:38714727)
Cross-species orthologs
9 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | stk32a | ENSDARG00000079499 |
| mus_musculus | Stk32b | ENSMUSG00000029123 |
| rattus_norvegicus | Stk32b | ENSRNOG00000031397 |
| drosophila_melanogaster | CG32944 | FBGN0052944 |
| drosophila_melanogaster | dop | FBGN0267390 |
| caenorhabditis_elegans | WBGENE00002192 | |
| caenorhabditis_elegans | wts-1 | WBGENE00007047 |
| caenorhabditis_elegans | WBGENE00010838 | |
| caenorhabditis_elegans | WBGENE00011992 |
Paralogs (13): MAST4 (ENSG00000069020), MAST2 (ENSG00000086015), MAST3 (ENSG00000099308), SGK2 (ENSG00000101049), SGK3 (ENSG00000104205), DMPK (ENSG00000104936), MAST1 (ENSG00000105613), SGK1 (ENSG00000118515), MASTL (ENSG00000120539), LATS1 (ENSG00000131023), LATS2 (ENSG00000150457), STK32C (ENSG00000165752), STK32A (ENSG00000169302)
Protein
Protein identifiers
Serine/threonine-protein kinase 32B — Q9NY57 (reviewed: Q9NY57)
Alternative names: Yet another novel kinase 2
All UniProt accessions (3): Q9NY57, D6R9Y2, E9PCC0
UniProt curated annotations — full annotation on UniProt →
Miscellaneous. It is unsure whether Met-1 or Met-3 is the initiator.
Similarity. Belongs to the protein kinase superfamily. Ser/Thr protein kinase family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9NY57-1 | 1 | yes |
| Q9NY57-2 | 2 |
RefSeq proteins (3): NP_001293011, NP_001332898, NP_060871* (*=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 |
| IPR017441 | Protein_kinase_ATP_BS | Binding_site |
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 (12 total): sequence variant 5, binding site 2, chain 1, domain 1, region of interest 1, active site 1, splice variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9NY57-F1 | 86.38 | 0.70 |
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): 146 (proton acceptor)
Ligand- & substrate-binding residues (2): 29–37; 52
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 124 (showing top):
VERHAAK_AML_WITH_NPM1_MUTATED_DN, BENPORATH_ES_WITH_H3K27ME3, YANG_BREAST_CANCER_ESR1_LASER_UP, CCANNAGRKGGC_UNKNOWN, SMID_BREAST_CANCER_LUMINAL_B_UP, chr4p16, AACTTT_UNKNOWN, VANTVEER_BREAST_CANCER_POOR_PROGNOSIS, HOEBEKE_LYMPHOID_STEM_CELL_UP, MODULE_95, RIGGI_EWING_SARCOMA_PROGENITOR_UP, ACEVEDO_METHYLATED_IN_LIVER_CANCER_DN, MULLIGHAN_MLL_SIGNATURE_2_DN, ACEVEDO_LIVER_CANCER_WITH_H3K27ME3_DN, GOMF_PROTEIN_KINASE_ACTIVITY
GO Biological Process (2): intracellular signal transduction (GO:0035556), protein phosphorylation (GO:0006468)
GO Molecular Function (8): protein serine/threonine kinase activity (GO:0004674), ATP binding (GO:0005524), metal ion binding (GO:0046872), protein serine kinase activity (GO:0106310), nucleotide binding (GO:0000166), protein kinase activity (GO:0004672), kinase activity (GO:0016301), transferase activity (GO:0016740)
GO Cellular Component (0):
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| protein kinase activity | 2 |
| intracellular anatomical structure | 1 |
| signal transduction | 1 |
| phosphorylation | 1 |
| protein modification process | 1 |
| adenyl ribonucleotide binding | 1 |
| purine ribonucleoside triphosphate binding | 1 |
| cation 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 |
| transferase activity, transferring phosphorus-containing groups | 1 |
| catalytic activity | 1 |
Protein interactions and networks
STRING
982 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| STK32B | EVC2 | Q86UK5 | 752 |
| STK32B | CRMP1 | Q14194 | 616 |
| STK32B | STX18 | Q9P2W9 | 602 |
| STK32B | CTNNA3 | Q9UI47 | 571 |
| STK32B | LINGO1 | Q96FE5 | 543 |
| STK32B | TMEM114 | B3SHH9 | 522 |
| STK32B | CCDC183 | Q5T5S1 | 519 |
| STK32B | ZNF202 | O95125 | 500 |
| STK32B | ADTRP | Q96IZ2 | 497 |
| STK32B | TRMO | Q9BU70 | 496 |
| STK32B | TBX10 | O75333 | 493 |
| STK32B | HEMGN | Q9BXL5 | 491 |
| STK32B | WNT11 | O96014 | 490 |
| STK32B | KCNS2 | Q9ULS6 | 479 |
| STK32B | SATB2 | Q9UPW6 | 469 |
IntAct
3 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| STK32B | HSP90AB1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| STK32B | GLRX3 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (14): GLRX3 (Affinity Capture-MS), HLA-A (Affinity Capture-MS), HSPB1 (Affinity Capture-MS), DSP (Affinity Capture-MS), SERPINB3 (Affinity Capture-MS), MAPK12 (Affinity Capture-MS), LAGE3 (Affinity Capture-MS), GCN1L1 (Affinity Capture-MS), USP7 (Affinity Capture-MS), MMS19 (Affinity Capture-MS), OSGEP (Affinity Capture-MS), PNMA2 (Affinity Capture-MS), POLDIP2 (Affinity Capture-MS), STK32B (Affinity Capture-Luminescence)
ESM2 similar proteins: A0AUV4, A1A5Q6, A1A5R7, A2KF29, B1WAS2, C0HKC8, C0HKC9, O60285, O74536, O88831, O88866, P35125, P51956, P57058, Q20443, Q28283, Q2T9U5, Q4R9F7, Q5GLH2, Q5R669, Q5R7G9, Q5XHI9, Q66HE5, Q68UT7, Q6P431, Q6VZ17, Q7TNJ7, Q7TNL4, Q8BHI9, Q8BZN4, Q8C078, Q8C0N0, Q8C0V7, Q8C0X8, Q8K4K4, Q8NE63, Q8WP28, Q91VB2, Q92519, Q96L34
Diamond homologs: A1Z9X0, A2VDZ4, A7MB74, A8XJQ6, A8XNJ6, B2GUY1, B4IMC3, B4NSS9, F1M7Y5, F4HPN2, F4JY37, J9W0G9, M3TYT0, O00141, O15530, O55173, O70291, O74426, O75116, O77819, P05130, P09216, P10666, P10830, P11792, P12370, P13678, P16054, P18654, P23298, P25341, P26818, P28178, P28327, P32866, P34099, P34102, P34103, P34885, P36582
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
107 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 85 |
| Likely benign | 5 |
| Benign | 5 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
3570 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 4:5104047:G:GG | donor_gain | 1.0000 |
| 4:5139903:A:AG | acceptor_gain | 1.0000 |
| 4:5139904:G:GA | acceptor_gain | 1.0000 |
| 4:5139904:GT:G | acceptor_gain | 1.0000 |
| 4:5139904:GTC:G | acceptor_gain | 1.0000 |
| 4:5139904:GTCA:G | acceptor_gain | 1.0000 |
| 4:5139904:GTCAA:G | acceptor_gain | 1.0000 |
| 4:5139961:GTA:G | donor_loss | 1.0000 |
| 4:5139962:T:G | donor_loss | 1.0000 |
| 4:5168294:CTCAG:C | acceptor_loss | 1.0000 |
| 4:5168295:TCA:T | acceptor_loss | 1.0000 |
| 4:5168296:CAG:C | acceptor_loss | 1.0000 |
| 4:5168297:A:C | acceptor_loss | 1.0000 |
| 4:5168298:G:GA | acceptor_loss | 1.0000 |
| 4:5168448:GTG:G | donor_gain | 1.0000 |
| 4:5168450:GGT:G | donor_loss | 1.0000 |
| 4:5168451:G:A | donor_loss | 1.0000 |
| 4:5168451:G:GG | donor_gain | 1.0000 |
| 4:5168452:T:G | donor_loss | 1.0000 |
| 4:5168453:G:GT | donor_loss | 1.0000 |
| 4:5331216:CTAG:C | acceptor_gain | 1.0000 |
| 4:5331216:CTAGG:C | acceptor_loss | 1.0000 |
| 4:5331217:TAGG:T | acceptor_gain | 1.0000 |
| 4:5331218:A:AG | acceptor_gain | 1.0000 |
| 4:5331218:AG:A | acceptor_gain | 1.0000 |
| 4:5331219:G:GG | acceptor_gain | 1.0000 |
| 4:5331219:GG:G | acceptor_gain | 1.0000 |
| 4:5331219:GGT:G | acceptor_gain | 1.0000 |
| 4:5331219:GGTA:G | acceptor_gain | 1.0000 |
| 4:5331219:GGTAC:G | acceptor_gain | 1.0000 |
AlphaMissense
2774 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 4:5139946:G:A | G32R | 1.000 |
| 4:5139946:G:C | G32R | 1.000 |
| 4:5139947:G:A | G32E | 1.000 |
| 4:5139952:T:C | F34L | 1.000 |
| 4:5139954:T:A | F34L | 1.000 |
| 4:5139954:T:G | F34L | 1.000 |
| 4:5139956:G:A | G35E | 1.000 |
| 4:5168344:A:G | K52E | 1.000 |
| 4:5168346:G:C | K52N | 1.000 |
| 4:5168346:G:T | K52N | 1.000 |
| 4:5398209:A:C | D146A | 1.000 |
| 4:5416863:A:C | D164A | 1.000 |
| 4:5416863:A:T | D164V | 1.000 |
| 4:5416864:C:A | D164E | 1.000 |
| 4:5416864:C:G | D164E | 1.000 |
| 4:5466737:T:A | L315H | 1.000 |
| 4:5466737:T:C | L315P | 1.000 |
| 4:5139919:T:C | F23L | 0.999 |
| 4:5139920:T:C | F23S | 0.999 |
| 4:5139921:T:A | F23L | 0.999 |
| 4:5139921:T:G | F23L | 0.999 |
| 4:5139941:G:A | G30D | 0.999 |
| 4:5139946:G:T | G32W | 0.999 |
| 4:5139952:T:A | F34I | 0.999 |
| 4:5139955:G:A | G35R | 0.999 |
| 4:5139955:G:C | G35R | 0.999 |
| 4:5139956:G:T | G35V | 0.999 |
| 4:5168309:T:A | V40E | 0.999 |
| 4:5168339:C:A | A50E | 0.999 |
| 4:5168344:A:C | K52Q | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000004059 (4:5239694 A>C), RS10000042 (4:5235425 C>T), RS1000005333 (4:5317907 A>G), RS10000062 (4:5253017 G>A,C,T), RS10000083 (4:5348125 G>A), RS10000145 (4:5295668 C>T), RS1000014876 (4:5479300 G>A,T), RS1000019709 (4:5381564 A>C,G), RS1000019901 (4:5066935 G>T), RS1000021702 (4:5143743 G>A,T), RS1000031634 (4:5474279 C>G), RS1000035320 (4:5239846 C>G), RS10000362 (4:5253306 G>A,C), RS10000376 (4:5411422 C>T), RS1000039451 (4:5175706 G>A,C,T)
Disease associations
OMIM: gene MIM:621309 | disease phenotypes:
GenCC curated gene-disease
Mondo (1): long QT syndrome (MONDO:0002442)
Orphanet (1): Syndromic anorectal malformation (Orphanet:117573)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
11 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001915_6 | Alzheimer’s disease (cognitive decline) | 5.000000e-07 |
| GCST002090_2 | Sensory disturbances after bilateral sagittal split ramus osteotomy | 7.000000e-06 |
| GCST002112_5 | Celiac disease | 8.000000e-06 |
| GCST003762_7 | Essential tremor | 5.000000e-10 |
| GCST005173_32 | Coronary artery calcified atherosclerotic plaque (130 HU threshold) in type 2 diabetes | 3.000000e-06 |
| GCST006136_5 | Alzheimer’s disease progression score | 2.000000e-06 |
| GCST006473_7 | Diffusing capacity of the lung for carbon monoxide traits | 6.000000e-07 |
| GCST007600_6 | Alzheimer’s disease | 2.000000e-06 |
| GCST008198_1 | Vascular endothelial growth factor levels | 5.000000e-10 |
| GCST008771_1 | Age at suicide | 7.000000e-07 |
| GCST90000015_1 | Parkinson’s disease motor subtype (tremor to postural instability/gait difficulty score ratio) | 7.000000e-07 |
EFO canonical traits (6, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0005324 | post-operative sensory disturbance |
| EFO:0004723 | coronary artery calcification |
| EFO:0006514 | Alzheimer’s disease biomarker measurement |
| EFO:0009369 | diffusing capacity of the lung for carbon monoxide |
| EFO:0006882 | suicide behaviour measurement |
| EFO:0600011 | Parkinson’s disease symptom measurement |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D008133 | Long QT Syndrome | C14.280.067.565; C14.280.123.625; C16.131.240.400.715; C23.550.073.547 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL5912 (SINGLE PROTEIN)
Molecules with ChEMBL bioactivity
5 molecules (phase ≥1), by development phase (incl. off-target/promiscuous compounds). Patent mentions across the top 20 by phase: 21,390 (via chembl_molecule»patent_compound — counts attach to the compound, not the gene–compound relationship, so off-target/promiscuous molecules can dominate).
| Molecule | Name | Phase | Patents |
|---|---|---|---|
| CHEMBL180022 | NERATINIB | 4 | 9,404 |
| CHEMBL223360 | LINIFANIB | 3 | 3,925 |
| CHEMBL377300 | BRIVANIB | 3 | 1,721 |
| CHEMBL603469 | LESTAURTINIB | 3 | |
| CHEMBL607707 | PELITINIB | 2 | 6,340 |
PharmGKB: 1 entry (VIP=true, CPIC=false)
GtoPdb / IUPHAR curated pharmacology
(IUPHAR/BPS Guide to Pharmacology — expert-curated)
Target class: enzyme — YANK family
Binding affinities (BindingDB)
4 measured of 4 human assays (4 total across all organisms); most potent 4 below. Values come from heterogeneous assays and are not directly comparable.
| Ligand | Measure | Value |
|---|---|---|
| Staurosporine | KD | 1.7 nM |
| 4-(4-Fluorophenyl)-2-(4-hydroxyphenyl)-5-(4-pyridyl)-1H-imidazole | KD | 9.8 nM |
| 4-[4-(4-fluorophenyl)-2-(4-methanesulfinylphenyl)-1H-imidazol-5-yl]pyridine | KD | 12 nM |
| (E)-N-[4-(3-chloro-4-fluoro-anilino)-3-cyano-7-ethoxy-6-quinolyl]-4-(dimethylamino)but-2-enamide | KD | 3500 nM |
ChEMBL bioactivities
23 potent at pChembl≥5 of 26 total, top 19 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
| pChembl | Type | Value | Unit | Molecule |
|---|---|---|---|---|
| 7.62 | Kd | 24 | nM | TAE-684 |
| 7.59 | IC50 | 25.8 | nM | STAUROSPORINE |
| 7.34 | IC50 | 45.2 | nM | STAUROSPORINE |
| 7.31 | IC50 | 49.1 | nM | STAUROSPORINE |
| 7.01 | Kd | 98 | nM | STAUROSPORINE |
| 6.57 | Kd | 270 | nM | LINIFANIB |
| 6.35 | Kd | 446 | nM | CHEMBL4465866 |
| 6.01 | Kd | 984 | nM | CHEMBL4576489 |
| 6.00 | IC50 | 1000 | nM | TP-030-1 |
| 6.00 | IC50 | 1000 | nM | TP-030-2 |
| 6.00 | IC50 | 1000 | nM | TP-030n |
| 5.92 | Kd | 1200 | nM | CHEMBL386051 |
| 5.85 | Kd | 1400 | nM | CHEMBL1241674 |
| 5.68 | Kd | 2100 | nM | SB-203580 |
| 5.41 | Kd | 3900 | nM | BRIVANIB |
| 5.31 | Kd | 4900 | nM | SB-202190 |
| 5.23 | Kd | 5900 | nM | LESTAURTINIB |
| 5.22 | Kd | 6000 | nM | PELITINIB |
| 5.19 | Kd | 6400 | nM | NERATINIB |
PubChem BioAssay actives
20 with measured affinity, of 239 total; 13 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 |
|---|---|---|---|---|
| 5-chloro-2-N-[2-methoxy-4-[4-(4-methylpiperazin-1-yl)piperidin-1-yl]phenyl]-4-N-(2-propan-2-ylsulfonylphenyl)pyrimidine-2,4-diamine | 625112: Binding constant for YANK2 kinase domain | kd | 0.0240 | uM |
| (2S,3R,4R,6R)-3-methoxy-2-methyl-4-(methylamino)-29-oxa-1,7,17-triazaoctacyclo[12.12.2.12,6.07,28.08,13.015,19.020,27.021,26]nonacosa-8,10,12,14,19,21,23,25,27-nonaen-16-one | 1715158: Inhibition of human STK32B using MBP as substrate by [gamma-33P]-ATP assay | ic50 | 0.0258 | uM |
| 1-[4-(3-amino-1H-indazol-4-yl)phenyl]-3-(2-fluoro-5-methylphenyl)urea | 436055: Binding constant for full-length YANK2 | kd | 0.2700 | uM |
| 3-(2,2-difluoro-10,12-dimethyl-1-aza-3-azonia-2-boranuidatricyclo[7.3.0.03,7]dodeca-3,5,7,9,11-pentaen-4-yl)-N-[2-[2-[2-[2-[[(2S,3R,4R,6R)-3-methoxy-2-methyl-16-oxo-29-oxa-1,7,17-triazaoctacyclo[12.12.2.12,6.07,28.08,13.015,19.020,27.021,26]nonacosa-8,10,12,14,19,21,23,25,27-nonaen-4-yl]amino]ethoxy]ethoxy]ethoxy]ethyl]propanamide | 1526161: Binding affinity to recombinant full-length N-terminal His-FLAG-GST-tagged STK32B (unknown origin) expressed in baculovirus infected Sf9 insect cells incubated for 1 hr by TR-FRET assay | kd | 0.4460 | uM |
| 3-(2,2-difluoro-10,12-dimethyl-1-aza-3-azonia-2-boranuidatricyclo[7.3.0.03,7]dodeca-3,5,7,9,11-pentaen-4-yl)-N-[2-[2-[2-[2-[[(2S,3R,4R,6R)-3-methoxy-2-methyl-16-oxo-29-oxa-1,7,17-triazaoctacyclo[12.12.2.12,6.07,28.08,13.015,19.020,27.021,26]nonacosa-8,10,12,14,19,21,23,25,27-nonaen-4-yl]-methylamino]ethoxy]ethoxy]ethoxy]ethyl]propanamide | 1526161: Binding affinity to recombinant full-length N-terminal His-FLAG-GST-tagged STK32B (unknown origin) expressed in baculovirus infected Sf9 insect cells incubated for 1 hr by TR-FRET assay | kd | 0.9840 | uM |
| 6-(2,6-dichlorophenyl)-8-methyl-2-(3-methylsulfanylanilino)pyrido[2,3-d]pyrimidin-7-one | 625112: Binding constant for YANK2 kinase domain | kd | 1.2000 | uM |
| 2-(4-amino-1-propan-2-ylpyrazolo[3,4-d]pyrimidin-3-yl)-1H-indol-5-ol | 625112: Binding constant for YANK2 kinase domain | kd | 1.4000 | uM |
| 4-[4-(4-fluorophenyl)-2-(4-methylsulfinylphenyl)-1H-imidazol-5-yl]pyridine | 436055: Binding constant for full-length YANK2 | kd | 2.1000 | uM |
| (2R)-1-[4-[(4-fluoro-2-methyl-1H-indol-5-yl)oxy]-5-methylpyrrolo[2,1-f][1,2,4]triazin-6-yl]oxypropan-2-ol | 625112: Binding constant for YANK2 kinase domain | kd | 3.9000 | uM |
| 4-[4-(4-fluorophenyl)-5-pyridin-4-yl-1H-imidazol-2-yl]phenol | 436055: Binding constant for full-length YANK2 | kd | 4.9000 | uM |
| (15S,16S,18R)-16-hydroxy-16-(hydroxymethyl)-15-methyl-28-oxa-4,14,19-triazaoctacyclo[12.11.2.115,18.02,6.07,27.08,13.019,26.020,25]octacosa-1,6,8,10,12,20,22,24,26-nonaen-3-one | 508132: Binding affinity to YANK2 | kd | 5.9000 | uM |
| (E)-N-[4-(3-chloro-4-fluoroanilino)-3-cyano-7-ethoxyquinolin-6-yl]-4-(dimethylamino)but-2-enamide | 436055: Binding constant for full-length YANK2 | kd | 6.0000 | uM |
| Neratinib | 625112: Binding constant for YANK2 kinase domain | kd | 6.4000 | uM |
CTD chemical–gene interactions
23 total (human), top 23 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | affects expression, increases expression | 2 |
| Benzo(a)pyrene | affects methylation, increases methylation | 2 |
| bisphenol A | decreases methylation | 1 |
| arsenite | affects binding, decreases reaction | 1 |
| cobaltous chloride | decreases expression | 1 |
| zinc chromate | increases abundance, decreases expression | 1 |
| benzo(e)pyrene | increases methylation | 1 |
| aflatoxin B2 | increases methylation | 1 |
| chromium hexavalent ion | decreases expression, increases abundance | 1 |
| perfluorooctane sulfonic acid | decreases expression | 1 |
| jinfukang | affects cotreatment, decreases expression | 1 |
| theaflavin-3,3’-digallate | affects expression | 1 |
| Zoledronic Acid | decreases expression | 1 |
| Atrazine | increases expression | 1 |
| Caffeine | decreases phosphorylation | 1 |
| Cisplatin | decreases expression, affects cotreatment | 1 |
| Methapyrilene | increases methylation | 1 |
| Tobacco Smoke Pollution | increases methylation | 1 |
| Tretinoin | decreases expression | 1 |
| 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide | increases expression | 1 |
| Aflatoxin B1 | decreases methylation | 1 |
| Cadmium Chloride | increases expression | 1 |
| Particulate Matter | increases expression | 1 |
ChEMBL screening assays
118 unique, capped per target: 118 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL1045673 | Binding | Binding affinity to YANK2 assessed as percentage of kinase remaining bound to the bead at 1 uM by T7 phage display based binding assay | Structure-based optimization of potent and selective inhibitors of the tyrosine kinase erythropoietin producing human hepatocellular carcinoma receptor B4 (EphB4). — J Med Chem |
Cellosaurus cell lines
2 cell lines: 2 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_TQ86 | HAP1 STK32B (-) 1 | Cancer cell line | Male |
| CVCL_TQ87 | HAP1 STK32B (-) 2 | Cancer cell line | Male |
Clinical trials (associated diseases)
66 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT02513940 | PHASE4 | COMPLETED | Influence of Testosterone Administration on Drug-Induced QT Interval Prolongation and Torsades de Pointes |
| NCT03834883 | PHASE4 | COMPLETED | Reducing the Risk of Drug-Induced QT Interval Lengthening in Women |
| NCT04169100 | PHASE4 | UNKNOWN | Novel Form of Acquired Long QT Syndrome |
| NCT04675788 | PHASE4 | COMPLETED | Novel Approaches for Minimizing Drug-Induced QT Interval Lengthening |
| NCT01648205 | PHASE2 | COMPLETED | Long-term Efficacy Study of Sodium Channel Blocker in LQT3 Patients |
| NCT02412709 | PHASE2 | UNKNOWN | Long QT Syndrome Screening in Newborns |
| NCT04581408 | PHASE2 | COMPLETED | Mutation-specific Therapy for the Long QT Syndrome |
| NCT00316459 | PHASE1 | COMPLETED | Study Evaluating the Effects of Multiple Oral Doses of ERB-041 on Cardiac Repolarization in Healthy Subjects |
| NCT01849003 | PHASE1 | COMPLETED | Study of the Effect of GS-6615 in Subjects With LQT-3 |
| NCT02365532 | PHASE1 | COMPLETED | Effect of Oral GS-6615 on Dofetilide-Induced QT Prolongation, Safety, and Tolerability in Healthy Adults |
| NCT02412098 | PHASE1 | COMPLETED | Pharmacokinetics of Eleclazine in Adults With Normal and Impaired Hepatic Function |
| NCT02441829 | PHASE1 | COMPLETED | Pharmacokinetics of Eleclazine in Adults With Normal and Impaired Renal Function |
| NCT05759962 | PHASE1 | COMPLETED | Phase 1 Study of LQT-1213 in Healthy Adults |
| NCT05906732 | PHASE1/PHASE2 | TERMINATED | Study of LQT-1213 on QTc-induced Prolongation in Healthy Adult Subjects (Part1) and on Congenital Long QT in Patients Diagnosed With Type 2 or 3 Long QT Syndrome (Part 2). |
| NCT00005176 | Not specified | COMPLETED | Long QT Syndrome-Population Genetics and Cardiac Studies |
| NCT00005250 | Not specified | COMPLETED | Linkage Study of Long QT Syndrome In An Amish Kindred |
| NCT00005367 | Not specified | COMPLETED | Epidemiology of Long QTand Asian Sudden Death in Sleep |
| NCT00221832 | Not specified | UNKNOWN | Molecular Genetic Screening and Identification of Congenital Arrhythmogenic Diseases |
| NCT00292032 | Not specified | COMPLETED | Registry of Unexplained Cardiac Arrest |
| NCT00335036 | Not specified | TERMINATED | Pediatric Lead Extractability and Survival Evaluation (PLEASE) |
| NCT00399412 | Not specified | COMPLETED | ECG Signal Collection From Long QT Syndrome, Wide QRS Complexes, Heart Failure, and Cardiac Resynchronization Patients |
| NCT00488254 | Not specified | COMPLETED | The Long QT Syndrome in Pregnancy |
| NCT00588965 | Not specified | COMPLETED | Effect of Beta-blocker Therapy on QTc Response in Exercise and Recovery in Normal Subjects |
| NCT01705925 | Not specified | COMPLETED | Multicenter Evaluation of Children and Young Adults With Genotype Positive Long QT Syndrome |
| NCT01903564 | Not specified | COMPLETED | Fetal and Neonatal Magnetophysiology |
| NCT02082431 | Not specified | COMPLETED | Determine the Incidence of Long QT Amongst a Large Cohort of Subjects Diagnosed With Unilateral or Bilateral Sensorineural Hearing Loss. |
| NCT02413450 | Not specified | ENROLLING_BY_INVITATION | Derivation of Human Induced Pluripotent Stem (iPS) Cells to Heritable Cardiac Arrhythmias |
| NCT02425189 | Not specified | COMPLETED | The Canadian National Long QT Syndrome Registry |
| NCT02439645 | Not specified | TERMINATED | A Registry to Determine the Clinical and Genetic Risk Factors for Torsade De Pointes |
| NCT02439658 | Not specified | UNKNOWN | Genetics of QT Prolongation With Antiarrhythmics |
| NCT02549664 | Not specified | COMPLETED | Exercise in Genetic Cardiovascular Conditions |
| NCT02581241 | Not specified | COMPLETED | Abnormal QT-Response to the Sudden Tachycardia Provoked by Standing in Individuals With Drug-induced Long QT Syndrome |
| NCT02680080 | Not specified | COMPLETED | Effect of Grapefruit on QT Interval in Healthy Volunteers and Patients With Congenital Long QT Syndrome |
| NCT02775513 | Not specified | UNKNOWN | Metabolism of Patients With Genetically Caused Cardiac Arrhythmia |
| NCT02814981 | Not specified | UNKNOWN | Hydroxyzine and Risk of Prolongation of QT Interval |
| NCT02876380 | Not specified | COMPLETED | Prospective Identification of Long QT Syndrome in Fetal Life |
| NCT03182777 | Not specified | COMPLETED | Safety of Local Dental Anesthesia in Patients With Cardiac Channelopathies |
| NCT03544918 | Not specified | COMPLETED | Prevalence of Congenital Long QT Syndrome and Acquired QT Prolongation in a Hospital Cohort |
| NCT03642405 | Not specified | UNKNOWN | Drug-induced Repolarization ECG Changes |
| NCT03678311 | Not specified | COMPLETED | Long QT Syndrome and Sleep Apnea |
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): Alzheimer disease, celiac disease, essential tremor, long QT syndrome