STRADB
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Also known as STLK6CALS-21PAPKILPIPAILPIP
Summary
STRADB (STE20 related adaptor beta, HGNC:13205) is a protein-coding gene on chromosome 2q33.1, encoding STE20-related kinase adapter protein beta (Q9C0K7). Pseudokinase which, in complex with CAB39/MO25 (CAB39/MO25alpha or CAB39L/MO25beta), binds to and activates STK11/LKB1.
This gene encodes a protein that belongs to the serine/threonine protein kinase STE20 subfamily. One of the active site residues in the protein kinase domain of this protein is altered, and it is thus a pseudokinase. This protein is a component of a complex involved in the activation of serine/threonine kinase 11, a master kinase that regulates cell polarity and energy-generating metabolism. This complex regulates the relocation of this kinase from the nucleus to the cytoplasm, and it is essential for G1 cell cycle arrest mediated by this kinase. The protein encoded by this gene can also interact with the X chromosome-linked inhibitor of apoptosis protein, and this interaction enhances the anti-apoptotic activity of this protein via the JNK1 signal transduction pathway. Two pseudogenes, located on chromosomes 1 and 7, have been found for this gene. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.
Source: NCBI Gene 55437 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 55 total — 1 pathogenic
- Druggable target: yes
- MANE Select transcript:
NM_018571
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:13205 |
| Approved symbol | STRADB |
| Name | STE20 related adaptor beta |
| Location | 2q33.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | STLK6, CALS-21, PAPK, ILPIPA, ILPIP |
| Ensembl gene | ENSG00000082146 |
| Ensembl biotype | protein_coding |
| OMIM | 607333 |
| Entrez | 55437 |
Gene structure
Transcript identifiers
Ensembl transcripts: 19 — 13 protein_coding, 4 retained_intron, 1 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined
ENST00000194530, ENST00000392249, ENST00000415688, ENST00000447698, ENST00000458269, ENST00000466770, ENST00000468123, ENST00000484098, ENST00000488196, ENST00000498648, ENST00000861982, ENST00000861983, ENST00000861984, ENST00000861985, ENST00000861986, ENST00000861987, ENST00000861988, ENST00000861989, ENST00000861990
RefSeq mRNA: 2 — MANE Select: NM_018571
NM_001206864, NM_018571
CCDS: CCDS2348, CCDS56161
Canonical transcript exons
ENST00000194530 — 12 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000784664 | 201478357 | 201478601 |
| ENSE00000784666 | 201479489 | 201479531 |
| ENSE00000934611 | 201458784 | 201458864 |
| ENSE00000934612 | 201469953 | 201470052 |
| ENSE00001172825 | 201480032 | 201480846 |
| ENSE00001200786 | 201451740 | 201451938 |
| ENSE00003509333 | 201478087 | 201478191 |
| ENSE00003522169 | 201472955 | 201473076 |
| ENSE00003649504 | 201477619 | 201477790 |
| ENSE00003667257 | 201454746 | 201454852 |
| ENSE00003676503 | 201474647 | 201474755 |
| ENSE00003690883 | 201475619 | 201475742 |
Expression profiles
Bgee: expression breadth ubiquitous, 140 present calls, max score 97.67.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 11.5537 / max 924.9584, expressed in 1721 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 24680 | 11.5537 | 1721 |
Top tissues by expression
140 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| adrenal tissue | UBERON:0018303 | 97.67 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 97.01 | gold quality |
| right adrenal gland | UBERON:0001233 | 96.75 | gold quality |
| blood | UBERON:0000178 | 96.67 | gold quality |
| left adrenal gland | UBERON:0001234 | 96.24 | gold quality |
| gastrocnemius | UBERON:0001388 | 96.19 | gold quality |
| muscle of leg | UBERON:0001383 | 96.03 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 96.03 | gold quality |
| skeletal muscle organ | UBERON:0014892 | 96.02 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 95.89 | gold quality |
| right lobe of liver | UBERON:0001114 | 95.87 | gold quality |
| adrenal gland | UBERON:0002369 | 95.80 | gold quality |
| skeletal muscle tissue | UBERON:0001134 | 95.57 | gold quality |
| liver | UBERON:0002107 | 95.45 | gold quality |
| duodenum | UBERON:0002114 | 95.28 | gold quality |
| rectum | UBERON:0001052 | 95.05 | gold quality |
| adult mammalian kidney | UBERON:0000082 | 95.00 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 94.84 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 94.55 | gold quality |
| kidney | UBERON:0002113 | 93.94 | gold quality |
| cortical plate | UBERON:0005343 | 93.81 | gold quality |
| bone element | UBERON:0001474 | 93.80 | gold quality |
| bone marrow | UBERON:0002371 | 93.80 | gold quality |
| heart left ventricle | UBERON:0002084 | 93.72 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 93.50 | gold quality |
| monocyte | CL:0000576 | 93.46 | gold quality |
| endometrium | UBERON:0001295 | 93.28 | gold quality |
| bone marrow cell | CL:0002092 | 93.20 | gold quality |
| body of pancreas | UBERON:0001150 | 93.16 | gold quality |
| metanephros cortex | UBERON:0010533 | 93.12 | gold quality |
Single-cell (SCXA)
Detected in 12 experiment(s), a significant marker in 11.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-HCAD-4 | yes | 146.94 |
| E-CURD-112 | yes | 56.62 |
| E-HCAD-6 | yes | 42.08 |
| E-MTAB-10042 | yes | 41.13 |
| E-MTAB-9221 | yes | 21.22 |
| E-MTAB-7316 | yes | 20.83 |
| E-HCAD-9 | yes | 8.87 |
| E-MTAB-9388 | yes | 7.73 |
| E-HCAD-10 | yes | 7.02 |
| E-MTAB-9467 | yes | 6.55 |
| E-MTAB-9067 | no | 4.33 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
56 targeting STRADB, 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-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-MIR-3925-3P | 100.00 | 69.95 | 1237 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-5696 | 99.98 | 72.36 | 4487 |
| HSA-MIR-1468-3P | 99.96 | 72.74 | 3797 |
| HSA-MIR-767-5P | 99.95 | 70.85 | 993 |
| HSA-MIR-545-3P | 99.95 | 70.74 | 2783 |
| HSA-MIR-497-5P | 99.92 | 71.83 | 2674 |
| HSA-MIR-1297 | 99.91 | 73.41 | 3162 |
| HSA-MIR-1305 | 99.91 | 71.43 | 3443 |
| HSA-MIR-195-5P | 99.90 | 72.81 | 2805 |
| HSA-MIR-15A-5P | 99.90 | 72.80 | 2787 |
| HSA-MIR-15B-5P | 99.90 | 72.78 | 2798 |
| HSA-MIR-16-5P | 99.90 | 72.80 | 2780 |
| HSA-MIR-424-5P | 99.89 | 71.90 | 2641 |
| HSA-MIR-6838-5P | 99.89 | 71.94 | 2690 |
| HSA-MIR-548E-5P | 99.89 | 72.73 | 4486 |
| HSA-MIR-9902 | 99.89 | 69.15 | 2250 |
| HSA-MIR-6079 | 99.84 | 68.54 | 1170 |
| HSA-MIR-3180-5P | 99.82 | 69.12 | 2422 |
| HSA-MIR-26A-5P | 99.78 | 73.52 | 2303 |
| HSA-MIR-26B-5P | 99.78 | 73.51 | 2305 |
| HSA-MIR-577 | 99.78 | 69.13 | 2479 |
| HSA-MIR-498-5P | 99.76 | 69.64 | 1807 |
| HSA-MIR-4446-5P | 99.72 | 69.19 | 2544 |
| HSA-MIR-1825 | 99.72 | 68.11 | 1089 |
| HSA-MIR-4465 | 99.71 | 72.56 | 2096 |
Literature-anchored findings (GeneRIF, showing 1)
- a novel XIAP-interacting protein that acts as a co-factor enhancing XIAP-mediated activation of JNK1 and the caspase-independent protection of XIAP against apoptosis (PMID:12048196)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | STRADB | ENSDARG00000088225 |
| mus_musculus | Stradb | ENSMUSG00000026027 |
| rattus_norvegicus | Stradb | ENSRNOG00000010728 |
Paralogs (35): MAP3K14 (ENSG00000006062), MAP4K3 (ENSG00000011566), MAP4K5 (ENSG00000012983), MAP2K3 (ENSG00000034152), SLK (ENSG00000065613), MAP4K4 (ENSG00000071054), STK10 (ENSG00000072786), PAK3 (ENSG00000077264), MAP3K1 (ENSG00000095015), STK4 (ENSG00000101109), PAK5 (ENSG00000101349), STK24 (ENSG00000102572), STK3 (ENSG00000104375), MAP4K1 (ENSG00000104814), MAP3K8 (ENSG00000107968), MAP2K6 (ENSG00000108984), NEK4 (ENSG00000114904), STK25 (ENSG00000115694), NRK (ENSG00000123572), PAK4 (ENSG00000130669), STK26 (ENSG00000134602), TAOK3 (ENSG00000135090), PAK6 (ENSG00000137843), MINK1 (ENSG00000141503), PAK1 (ENSG00000149269), TAOK2 (ENSG00000149930), TNIK (ENSG00000154310), TAOK1 (ENSG00000160551), MAP4K2 (ENSG00000168067), OXSR1 (ENSG00000172939), MAP3K19 (ENSG00000176601), PAK2 (ENSG00000180370), SBK2 (ENSG00000187550), STK39 (ENSG00000198648), STRADA (ENSG00000266173)
Protein
Protein identifiers
STE20-related kinase adapter protein beta — Q9C0K7 (reviewed: Q9C0K7)
Alternative names: Amyotrophic lateral sclerosis 2 chromosomal region candidate gene 2 protein, CALS-21, ILP-interacting protein, Pseudokinase ALS2CR2
All UniProt accessions (4): Q9C0K7, C9JSU7, F8WCQ7, H7C3S5
UniProt curated annotations — full annotation on UniProt →
Function. Pseudokinase which, in complex with CAB39/MO25 (CAB39/MO25alpha or CAB39L/MO25beta), binds to and activates STK11/LKB1. Adopts a closed conformation typical of active protein kinases and binds STK11/LKB1 as a pseudosubstrate, promoting conformational change of STK11/LKB1 in an active conformation.
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. Interacts with BIRC4/XIAP. These two proteins are likely to coexist in a complex with TAK1, TRAF6, TAB1 and TAB2.
Subcellular location. Nucleus. Cytoplasm.
Tissue specificity. Highly expressed in heart, skeletal muscle, testis, liver and colon.
Domain organisation. The protein kinase domain is predicted to be catalytically inactive.
Similarity. Belongs to the protein kinase superfamily. STE Ser/Thr protein kinase family. STE20 subfamily.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9C0K7-1 | 1, ILPIP-alpha | yes |
| Q9C0K7-2 | 2 | |
| Q9C0K7-3 | 3, ILPIP-beta |
RefSeq proteins (2): NP_001193793, NP_061041* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000719 | Prot_kinase_dom | Domain |
| IPR011009 | Kinase-like_dom_sf | Homologous_superfamily |
| IPR047173 | STRAD_A/B-like | Family |
Pfam: PF00069
UniProt features (9 total): splice variant 3, binding site 2, sequence variant 2, chain 1, domain 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9C0K7-F1 | 74.39 | 0.52 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Ligand- & substrate-binding residues (2): 64–72; 89
Function
Pathways and Gene Ontology
Reactome pathways
3 pathways
| ID | Pathway |
|---|---|
| R-HSA-380972 | Energy dependent regulation of mTOR by LKB1-AMPK |
| R-HSA-162582 | Signal Transduction |
| R-HSA-165159 | MTOR signalling |
MSigDB gene sets: 223 (showing top):
GSE18804_SPLEEN_MACROPHAGE_VS_TUMORAL_MACROPHAGE_UP, GSE18804_SPLEEN_MACROPHAGE_VS_COLON_TUMORAL_MACROPHAGE_DN, AP1_01, GOBP_REGULATION_OF_PHOSPHORYLATION, GOBP_INTRACELLULAR_PROTEIN_TRANSPORT, TGCTGCT_MIR15A_MIR16_MIR15B_MIR195_MIR424_MIR497, RORA1_01, AREB6_03, IVANOVA_HEMATOPOIESIS_MATURE_CELL, GOBP_EXTRINSIC_APOPTOTIC_SIGNALING_PATHWAY, GOBP_REGULATION_OF_TRANSFERASE_ACTIVITY, TGACCTY_ERR1_Q2, GOBP_NUCLEAR_TRANSPORT, GOMF_KINASE_ACTIVATOR_ACTIVITY, GOBP_NEGATIVE_REGULATION_OF_EXTRINSIC_APOPTOTIC_SIGNALING_PATHWAY
GO Biological Process (6): cell morphogenesis (GO:0000902), protein export from nucleus (GO:0006611), JNK cascade (GO:0007254), activation of protein kinase activity (GO:0032147), negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240), protein phosphorylation (GO:0006468)
GO Molecular Function (5): ATP binding (GO:0005524), protein serine/threonine kinase activator activity (GO:0043539), nucleotide binding (GO:0000166), protein kinase activity (GO:0004672), protein binding (GO:0005515)
GO Cellular Component (6): nucleus (GO:0005634), cytoplasm (GO:0005737), cytosol (GO:0005829), aggresome (GO:0016235), serine/threonine protein kinase complex (GO:1902554), membrane (GO:0016020)
Reactome top-level categories
Rollup of top-2 pathways:
| Category | Pathways |
|---|---|
| MTOR signalling | 1 |
| Signal Transduction | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| anatomical structure morphogenesis | 1 |
| intracellular protein transport | 1 |
| nuclear export | 1 |
| MAPK cascade | 1 |
| positive regulation of protein kinase activity | 1 |
| extrinsic apoptotic signaling pathway in absence of ligand | 1 |
| negative regulation of signal transduction in absence of ligand | 1 |
| negative regulation of extrinsic apoptotic signaling pathway | 1 |
| regulation of extrinsic apoptotic signaling pathway in absence of ligand | 1 |
| phosphorylation | 1 |
| protein modification process | 1 |
| adenyl ribonucleotide binding | 1 |
| purine ribonucleoside triphosphate binding | 1 |
| protein serine/threonine kinase activity | 1 |
| protein kinase activator activity | 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 |
| intracellular membrane-bounded organelle | 1 |
| intracellular anatomical structure | 1 |
| cytoplasm | 1 |
| inclusion body | 1 |
| protein kinase complex | 1 |
Protein interactions and networks
STRING
806 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| STRADB | CAB39 | Q9Y376 | 976 |
| STRADB | CAB39L | Q9H9S4 | 974 |
| STRADB | TRAK2 | O60296 | 908 |
| STRADB | STK11 | Q15831 | 839 |
| STRADB | PAPOLG | Q9BWT3 | 585 |
| STRADB | ALS2 | Q96Q42 | 564 |
| STRADB | MAP3K7 | O43318 | 540 |
| STRADB | DCAF12 | Q5T6F0 | 507 |
| STRADB | XIAP | P98170 | 496 |
| STRADB | UBXN6 | Q9BZV1 | 472 |
| STRADB | EPB42 | P16452 | 464 |
| STRADB | ANKS3 | Q6ZW76 | 439 |
| STRADB | HACD4 | Q5VWC8 | 427 |
| STRADB | DYRK1B | Q9Y463 | 424 |
| STRADB | COMMD1 | Q8N668 | 423 |
| STRADB | DIABLO | Q9NR28 | 423 |
IntAct
25 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| STK11 | STRADA | psi-mi:“MI:0914”(association) | 0.960 |
| STRADB | STK11 | psi-mi:“MI:0403”(colocalization) | 0.920 |
| STRADB | STK11 | psi-mi:“MI:0915”(physical association) | 0.920 |
| STK11 | STRADB | psi-mi:“MI:0915”(physical association) | 0.920 |
| STK11 | FKBP5 | psi-mi:“MI:0914”(association) | 0.910 |
| 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 |
| STK11 | KDM4A | psi-mi:“MI:0914”(association) | 0.640 |
| PIP4K2A | AP3B1 | psi-mi:“MI:0914”(association) | 0.530 |
| STRADB | TCP1 | psi-mi:“MI:0914”(association) | 0.530 |
| Dlg4 | STRADB | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| STRADB | TIMM8A | psi-mi:“MI:0914”(association) | 0.350 |
| STK11 | HK1 | psi-mi:“MI:0914”(association) | 0.350 |
| STRADB | CREB1 | psi-mi:“MI:0914”(association) | 0.350 |
| STRADB | GRB2 | psi-mi:“MI:0915”(physical association) | 0.000 |
| TNIK | STRADB | psi-mi:“MI:0915”(physical association) | 0.000 |
| STRADB | CAB39 | psi-mi:“MI:0915”(physical association) | 0.000 |
| CAB39 | STRADB | psi-mi:“MI:0915”(physical association) | 0.000 |
| STRADB | NEB | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (51): STK11 (Affinity Capture-MS), CAB39 (Affinity Capture-MS), NBEA (Affinity Capture-MS), STRADB (Affinity Capture-MS), RPS6KA2 (Affinity Capture-MS), RPS6KA3 (Affinity Capture-MS), CCT6B (Affinity Capture-MS), CCT2 (Affinity Capture-MS), CCT3 (Affinity Capture-MS), CCT7 (Affinity Capture-MS), CAB39 (Two-hybrid), NEB (Two-hybrid), STRADB (Affinity Capture-Western), STRADB (Affinity Capture-Western), STRADB (Reconstituted Complex)
ESM2 similar proteins: O15530, O54863, O70444, O94768, P06803, P11309, P26794, P37023, P57078, P58750, P80203, P92958, P97343, P97756, Q03142, Q20443, Q38997, Q3SZW1, Q5RAN0, Q5RCY1, Q61288, Q62070, Q63285, Q7TNJ7, Q852Q2, Q86V86, Q8BG48, Q8BZ25, Q8C1R0, Q8K4T3, Q8TAS1, Q8VBY2, Q91822, Q91VB2, Q91XS8, Q95LJ0, Q96LW2, Q96PF2, Q9BXA7, Q9C0K7
Diamond homologs: A0A1D6E0S8, B4E2M5, C0LGL9, F1M5M3, F1MJR8, P0C0T2, P9WI62, P9WI63, Q0CL79, Q0D4B2, Q16584, Q1ZXD6, Q4WHP3, Q54XZ5, Q66HA1, Q68DC2, Q6CVA2, Q6GQX6, Q75DK7, Q7EZ44, Q7M6U3, Q7TYY6, Q7Z6K4, Q80XI6, Q8IWB6, Q8K4B2, Q91ZA8, Q9C0K7, Q9J4Z6, Q9UU77, A0A509AKL0, A5K0N4, G5ECN5, O23304, O34507, O43930, O54784, O61122, O74426, O88764
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
55 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 1 |
| Likely pathogenic | 0 |
| Uncertain significance | 38 |
| Likely benign | 1 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 1456057 | NC_000002.11:g.(?201943606)(204824322_?)del | Pathogenic |
SpliceAI
3773 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 2:201389309:T:TA | donor_gain | 1.0000 |
| 2:201389324:C:A | donor_gain | 1.0000 |
| 2:201389799:A:AC | donor_gain | 1.0000 |
| 2:201389800:C:CT | donor_gain | 1.0000 |
| 2:201389800:CT:C | donor_gain | 1.0000 |
| 2:201389800:CTT:C | donor_gain | 1.0000 |
| 2:201389800:CTTTT:C | donor_gain | 1.0000 |
| 2:201392903:GCTT:G | donor_loss | 1.0000 |
| 2:201392904:CTTA:C | donor_loss | 1.0000 |
| 2:201392906:TACCC:T | donor_loss | 1.0000 |
| 2:201392907:A:AC | donor_gain | 1.0000 |
| 2:201392907:AC:A | donor_gain | 1.0000 |
| 2:201392907:ACC:A | donor_gain | 1.0000 |
| 2:201392907:ACCC:A | donor_gain | 1.0000 |
| 2:201392908:C:A | donor_loss | 1.0000 |
| 2:201392908:C:CC | donor_gain | 1.0000 |
| 2:201392908:CC:C | donor_gain | 1.0000 |
| 2:201392908:CCC:C | donor_gain | 1.0000 |
| 2:201392908:CCCC:C | donor_gain | 1.0000 |
| 2:201392908:CCCCA:C | donor_gain | 1.0000 |
| 2:201393042:TGCAG:T | acceptor_gain | 1.0000 |
| 2:201393043:GCAG:G | acceptor_gain | 1.0000 |
| 2:201393044:CAG:C | acceptor_gain | 1.0000 |
| 2:201393044:CAGC:C | acceptor_gain | 1.0000 |
| 2:201393045:AG:A | acceptor_gain | 1.0000 |
| 2:201393045:AGCTA:A | acceptor_loss | 1.0000 |
| 2:201393046:GC:G | acceptor_loss | 1.0000 |
| 2:201393047:C:CC | acceptor_gain | 1.0000 |
| 2:201393048:T:G | acceptor_loss | 1.0000 |
| 2:201394792:CATTA:C | donor_loss | 1.0000 |
AlphaMissense
2730 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 2:201477764:T:A | W232R | 0.999 |
| 2:201477764:T:C | W232R | 0.999 |
| 2:201477770:A:C | S234R | 0.999 |
| 2:201477772:T:A | S234R | 0.999 |
| 2:201477772:T:G | S234R | 0.999 |
| 2:201478115:A:T | D250V | 0.999 |
| 2:201478129:G:T | G255W | 0.999 |
| 2:201478130:G:A | G255E | 0.999 |
| 2:201478601:G:C | R357T | 0.999 |
| 2:201478601:G:T | R357M | 0.999 |
| 2:201479489:G:C | R357S | 0.999 |
| 2:201479489:G:T | R357S | 0.999 |
| 2:201478114:G:C | D250H | 0.998 |
| 2:201478114:G:T | D250Y | 0.998 |
| 2:201478115:A:C | D250A | 0.998 |
| 2:201478115:A:G | D250G | 0.998 |
| 2:201478123:A:C | S253R | 0.998 |
| 2:201478125:T:A | S253R | 0.998 |
| 2:201478125:T:G | S253R | 0.998 |
| 2:201478129:G:A | G255R | 0.998 |
| 2:201478129:G:C | G255R | 0.998 |
| 2:201478138:G:C | A258P | 0.998 |
| 2:201478576:T:C | C349R | 0.998 |
| 2:201478578:T:G | C349W | 0.998 |
| 2:201475688:T:C | L165P | 0.997 |
| 2:201477771:G:T | S234I | 0.997 |
| 2:201478120:T:G | Y252D | 0.997 |
| 2:201478127:T:A | V254D | 0.997 |
| 2:201478148:T:C | L261S | 0.997 |
| 2:201472990:G:C | A77P | 0.996 |
dbSNP variants (sampled 300 via entrez): RS1000025372 (2:201450448 C>T), RS1000153306 (2:201476101 T>A), RS1000237405 (2:201454608 T>A), RS1000247126 (2:201479355 C>G), RS1000503364 (2:201460902 T>G), RS1000572375 (2:201462744 T>C), RS1000879809 (2:201457292 C>T), RS1000980488 (2:201468859 C>A,T), RS1001005233 (2:201464852 A>C), RS1001632119 (2:201461904 A>G), RS1001709776 (2:201478933 T>C), RS1001742197 (2:201454281 A>G), RS1001895256 (2:201459881 C>A), RS1002114950 (2:201453237 G>C), RS1002168513 (2:201464158 G>A)
Disease associations
OMIM: gene MIM:607333 | disease phenotypes: MIM:614424, MIM:607271, MIM:607594, MIM:616100
GenCC curated gene-disease
Mondo (4): Joubert syndrome 14 (MONDO:0013745), autoimmune lymphoproliferative syndrome type 2B (MONDO:0011804), immunodeficiency, common variable, 1 (MONDO:0011864), autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency (MONDO:0014493)
Orphanet (4): OBSOLETE: Common variable immunodeficiency (Orphanet:1572), Autoimmune lymphoproliferative syndrome-recurrent viral infections due to CASP8 deficiency (Orphanet:275517), Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency (Orphanet:436159), Late-onset combined immunodeficiency due to ICOS deficiency (Orphanet:695183)
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 (1): CHEMBL4105756 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
GtoPdb / IUPHAR curated pharmacology
(IUPHAR/BPS Guide to Pharmacology — expert-curated)
Target class: enzyme — STLK subfamily
CTD chemical–gene interactions
30 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Air Pollutants | increases expression, affects expression, increases abundance, decreases expression | 3 |
| Cadmium Chloride | decreases expression, increases abundance | 2 |
| Particulate Matter | decreases expression, increases abundance, increases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| methylmercuric chloride | decreases expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | decreases expression | 1 |
| potassium chromate(VI) | affects cotreatment, decreases expression | 1 |
| epigallocatechin gallate | affects cotreatment, decreases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| K 7174 | decreases expression | 1 |
| ICG 001 | increases expression | 1 |
| abrine | decreases expression | 1 |
| jinfukang | affects cotreatment, increases expression | 1 |
| Temozolomide | decreases expression | 1 |
| Sunitinib | increases expression | 1 |
| Leflunomide | decreases expression | 1 |
| Benzo(a)pyrene | affects methylation | 1 |
| Cadmium | decreases expression, increases abundance | 1 |
| Caffeine | decreases phosphorylation | 1 |
| Cannabidiol | decreases expression | 1 |
| Cisplatin | affects cotreatment, increases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Hydrogen Peroxide | increases expression | 1 |
| Ozone | affects expression, increases abundance | 1 |
| Thiram | decreases expression | 1 |
| Tobacco Smoke Pollution | decreases expression | 1 |
| Tretinoin | decreases expression | 1 |
| Aflatoxin B1 | decreases methylation | 1 |
| Okadaic Acid | decreases expression | 1 |
| Copper Sulfate | decreases expression | 1 |
ChEMBL screening assays
20 unique, capped per target: 20 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL4034498 | Binding | Inhibition of STLK6 Lysine 1 labelling site (unknown origin) at 10 uM | Developing DYRK inhibitors derived from the meridianins as a means of increasing levels of NFAT in the nucleus. — Bioorg Med Chem Lett |
Cellosaurus cell lines
4 cell lines: 3 cancer cell line, 1 transformed cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_B3IH | Abcam HEK293T STRADB KO | Transformed cell line | Female |
| CVCL_TR00 | HAP1 STRADB (-) 1 | Cancer cell line | Male |
| CVCL_TR01 | HAP1 STRADB (-) 2 | Cancer cell line | Male |
| CVCL_TR02 | HAP1 STRADB (-) 3 | Cancer cell line | Male |
Clinical trials (associated diseases)
3 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT05235438 | PHASE1 | UNKNOWN | Safety and Toxicity Study of IMM27M in Patients With Advanced Solid Tumor |
| NCT04377867 | Not specified | UNKNOWN | New Biomarkers for Diagnosis and Follow-up of Patients With LRBA or CTLA4 Deficiencies |
| NCT05040256 | Not specified | COMPLETED | Neurologic and Immunologic Characteristics of CTLA-4 and LRBA Hereditary Deficiency |
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency, autoimmune lymphoproliferative syndrome type 2B, immunodeficiency, common variable, 1, Joubert syndrome 14