TBL2

Summary

TBL2 (transducin beta like 2, HGNC:11586) is a protein-coding gene on chromosome 7q11.23, encoding Transducin beta-like protein 2 (Q9Y4P3).

This gene encodes a member of the beta-transducin protein family. Most proteins of the beta-transducin family are involved in regulatory functions. This protein is possibly involved in some intracellular signaling pathway. This gene is deleted in Williams-Beuren syndrome, a developmental disorder caused by deletion of multiple genes at 7q11.23.

Source: NCBI Gene 26608 — RefSeq curated summary.

At a glance

• GWAS associations: 26
• Clinical variants (ClinVar): 90 total — 1 pathogenic
• Phenotypes (HPO): 186
• Druggable target: yes
• MANE Select transcript: NM_012453

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:11586
Approved symbol	TBL2
Name	transducin beta like 2
Location	7q11.23
Locus type	gene with protein product
Status	Approved
Aliases	WS-betaTRP, WBSCR13, DKFZP43N024
Ensembl gene	ENSG00000106638
Ensembl biotype	protein_coding
OMIM	605842
Entrez	26608

Gene structure

Transcript identifiers

Ensembl transcripts: 26 — 9 nonsense_mediated_decay, 8 protein_coding, 5 protein_coding_CDS_not_defined, 4 retained_intron

ENST00000305632, ENST00000417008, ENST00000424598, ENST00000426966, ENST00000432538, ENST00000433464, ENST00000435792, ENST00000437521, ENST00000450285, ENST00000452125, ENST00000452475, ENST00000458466, ENST00000459913, ENST00000465279, ENST00000468669, ENST00000469518, ENST00000476136, ENST00000479892, ENST00000488915, ENST00000495885, ENST00000496056, ENST00000857337, ENST00000857339, ENST00000857340, ENST00000913446, ENST00000913447

RefSeq mRNA: 5 — MANE Select: NM_012453 NM_001362660, NM_001362661, NM_001362662, NM_001362663, NM_012453

CCDS: CCDS5551

Canonical transcript exons

ENST00000305632 — 7 exons

Exon	Start	End
ENSE00001168070	73578420	73578579
ENSE00001386328	73567537	73570972
ENSE00003473471	73574383	73574513
ENSE00003608765	73572844	73572970
ENSE00003614774	73573320	73573471
ENSE00003677925	73571189	73571341
ENSE00003713114	73573938	73574122

Expression profiles

Bgee: expression breadth ubiquitous, 292 present calls, max score 99.03.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 42.7521 / max 571.0736, expressed in 1819 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
84308	42.6651	1819
84307	0.0870	23

Top tissues by expression

296 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
adult organism	UBERON:0007023	99.03	gold quality
left testis	UBERON:0004533	98.91	gold quality
right testis	UBERON:0004534	98.74	gold quality
sperm	CL:0000019	98.67	gold quality
male germ cell	CL:0000015	98.16	gold quality
testis	UBERON:0000473	97.01	gold quality
parotid gland	UBERON:0001831	95.11	gold quality
germinal epithelium of ovary	UBERON:0001304	93.91	gold quality
corpus epididymis	UBERON:0004359	93.86	gold quality
mucosa of sigmoid colon	UBERON:0004993	93.82	gold quality
tibia	UBERON:0000979	93.79	gold quality
caput epididymis	UBERON:0004358	93.37	gold quality
cartilage tissue	UBERON:0002418	93.19	gold quality
endothelial cell	CL:0000115	92.99	gold quality
placenta	UBERON:0001987	92.93	gold quality
pigmented layer of retina	UBERON:0001782	92.86	gold quality
retina	UBERON:0000966	92.83	gold quality
jejunal mucosa	UBERON:0000399	92.79	gold quality
bronchial epithelial cell	CL:0002328	92.70	gold quality
stromal cell of endometrium	CL:0002255	92.66	gold quality
colonic mucosa	UBERON:0000317	92.56	gold quality
body of pancreas	UBERON:0001150	92.44	gold quality
pancreatic ductal cell	CL:0002079	92.13	gold quality
seminal vesicle	UBERON:0000998	92.09	gold quality
eye	UBERON:0000970	91.96	gold quality
palpebral conjunctiva	UBERON:0001812	91.73	gold quality
tendon of biceps brachii	UBERON:0008188	91.71	gold quality
cauda epididymis	UBERON:0004360	91.58	gold quality
mammary duct	UBERON:0001765	91.44	gold quality
parietal pleura	UBERON:0002400	91.32	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	5.79

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

70 targeting TBL2, 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-1193	100.00	65.93	529
HSA-MIR-7110-3P	100.00	73.18	2486
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-6873-3P	100.00	71.42	2626
HSA-MIR-4455	100.00	65.48	1587
HSA-MIR-1252-5P	100.00	69.80	2774
HSA-MIR-6758-5P	100.00	66.21	1470
HSA-MIR-6856-5P	100.00	65.47	1298
HSA-MIR-4476	100.00	68.18	2030
HSA-MIR-6876-5P	100.00	67.68	2126
HSA-MIR-1250-3P	99.96	70.04	4038
HSA-MIR-23A-3P	99.95	74.24	3163
HSA-MIR-23B-3P	99.95	74.24	3163
HSA-MIR-23C	99.95	73.92	3192
HSA-MIR-6835-3P	99.93	70.49	2904
HSA-MIR-627-3P	99.90	71.42	3316
HSA-MIR-6780A-5P	99.88	66.69	2776
HSA-MIR-10395-5P	99.86	67.35	676
HSA-MIR-576-5P	99.84	70.46	2582
HSA-MIR-6875-3P	99.82	70.26	2983
HSA-MIR-6817-3P	99.79	68.35	2126
HSA-MIR-1273H-5P	99.77	66.32	2471
HSA-MIR-4679	99.76	69.19	1229
HSA-MIR-3156-3P	99.76	66.72	939
HSA-MIR-4719	99.73	72.10	3329
HSA-MIR-30B-3P	99.70	65.76	2325
HSA-MIR-3689A-3P	99.70	65.73	2306
HSA-MIR-3689B-3P	99.70	65.71	2311
HSA-MIR-3689C	99.70	65.71	2311
HSA-MIR-6779-5P	99.70	65.76	2363

Literature-anchored findings (GeneRIF, showing 7)

• Data show that SNPs associated with TG in normolipidemic samples, including APOA5, TRIB1, TBL2, GCKR, GALNT2 and ANGPTL3 were significantly associated with HLP types 2B, 3, 4 and 5. (PMID:19656773)
• A TERE1-TBL2 complex likely functions in oxidative/nitrosative stress, lipid metabolism, and SXR signaling pathways in its role as a tumor suppressor. (PMID:23564352)
• TBL2 interacts with PERK via the N-terminus proximal region and also associates with eIF2a via the WD40 domain thus modulating stress-signaling and cell survival during endoplasmic reticulum stress. (PMID:25393282)
• association of TBL2 with the 60S subunit was ER stress independent while the TBL2-PERK interaction occurred upon ER stress (PMID:25976671)
• TBL2 participates in ATF4 translation through its association with the mRNA. (PMID:26239904)
• TBL2 methylation is associated with hyper-low-density lipoprotein cholesterolemia: a case-control study. (PMID:32811528)
• Transducin Beta-Like 2 is a Potential Driver Gene that Adapts to Endoplasmic Reticulum Stress to Promote Tumor Growth of Lung Adenocarcinoma. (PMID:37477745)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	tbl2	ENSDARG00000043357
mus_musculus	Tbl2	ENSMUSG00000005374
rattus_norvegicus	Tbl2	ENSRNOG00000046252

Paralogs (26): PAFAH1B1 (ENSG00000007168), SNRNP40 (ENSG00000060688), WDR62 (ENSG00000075702), WDR7 (ENSG00000091157), PAK1IP1 (ENSG00000111845), WDR75 (ENSG00000115368), DCAF4 (ENSG00000119599), DAW1 (ENSG00000123977), TEP1 (ENSG00000129566), AHI1 (ENSG00000135541), WDR38 (ENSG00000136918), MAPKBP1 (ENSG00000137802), POC1B (ENSG00000139323), NEDD1 (ENSG00000139350), COP1 (ENSG00000143207), WDR17 (ENSG00000150627), WDR43 (ENSG00000163811), POC1A (ENSG00000164087), WDR88 (ENSG00000166359), WDR81 (ENSG00000167716), DCAF4L2 (ENSG00000176566), DCAF4L1 (ENSG00000182308), WDR27 (ENSG00000184465), NWD1 (ENSG00000188039), WDR5 (ENSG00000196363), WDR5B (ENSG00000196981)

Protein

Protein identifiers

Transducin beta-like protein 2 — Q9Y4P3 (reviewed: Q9Y4P3)

Alternative names: WS beta-transducin repeats protein, Williams-Beuren syndrome chromosomal region 13 protein

All UniProt accessions (12): Q9Y4P3, A0A087WXC6, A0A384MDS4, E9PF19, F2Z3G3, F8WB62, F8WBD9, F8WBP2, F8WCC7, F8WCR3, F8WDI9, F8WEC3

UniProt curated annotations — full annotation on UniProt →

Disease relevance. TBL2 is located in the Williams-Beuren syndrome (WBS) critical region. WBS results from a hemizygous deletion of several genes on chromosome 7q11.23, thought to arise as a consequence of unequal crossing over between highly homologous low-copy repeat sequences flanking the deleted region. Haploinsufficiency of TBL2 may be the cause of certain cardiovascular and musculo-skeletal abnormalities observed in the disease.

RefSeq proteins (5): NP_001349589, NP_001349590, NP_001349591, NP_001349592, NP_036585* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001680	WD40_rpt	Repeat
IPR015943	WD40/YVTN_repeat-like_dom_sf	Homologous_superfamily
IPR020472	WD40_PAC1	Repeat
IPR036322	WD40_repeat_dom_sf	Homologous_superfamily
IPR042410	WBSCR13	Family

Pfam: PF00400

UniProt features (13 total): repeat 7, chain 1, modified residue 1, cross-link 1, sequence variant 1, region of interest 1, compositionally biased region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9Y4P3-F1	87.11	0.74

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (2): 433, 168

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 585 (showing top): GSE45365_CTRL_VS_MCMV_INFECTION_NK_CELL_UP, GOBP_RESPONSE_TO_ENDOPLASMIC_RETICULUM_STRESS, GRAESSMANN_APOPTOSIS_BY_SERUM_DEPRIVATION_DN, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_DN, GOBP_CELLULAR_RESPONSE_TO_TOPOLOGICALLY_INCORRECT_PROTEIN, GOLDRATH_ANTIGEN_RESPONSE, ONKEN_UVEAL_MELANOMA_UP, GOBP_CELLULAR_RESPONSE_TO_OXYGEN_LEVELS, GOBP_RESPONSE_TO_OXYGEN_LEVELS, GOBP_RESPONSE_TO_ABIOTIC_STIMULUS, GOBP_CELLULAR_RESPONSE_TO_STARVATION, chr7q11, GOBP_CELLULAR_RESPONSE_TO_GLUCOSE_STARVATION, BURTON_ADIPOGENESIS_5

GO Biological Process (3): endoplasmic reticulum unfolded protein response (GO:0030968), cellular response to glucose starvation (GO:0042149), cellular response to hypoxia (GO:0071456)

GO Molecular Function (5): RNA binding (GO:0003723), protein kinase binding (GO:0019901), translation initiation factor binding (GO:0031369), phosphoprotein binding (GO:0051219), protein binding (GO:0005515)

GO Cellular Component (2): endoplasmic reticulum (GO:0005783), endoplasmic reticulum membrane (GO:0005789)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
protein binding	2
cellular response to unfolded protein	1
response to endoplasmic reticulum stress	1
intracellular signal transduction	1
cellular response to starvation	1
response to hypoxia	1
cellular response to stress	1
cellular response to decreased oxygen levels	1
nucleic acid binding	1
kinase binding	1
binding	1
cytoplasm	1
endomembrane system	1
intracellular membrane-bounded organelle	1
organelle membrane	1
nuclear outer membrane-endoplasmic reticulum membrane network	1
endoplasmic reticulum subcompartment	1

Protein interactions and networks

STRING

2364 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
TBL2	BCL7B	Q9BQE9	910
TBL2	MLXIPL	Q9NP71	885
TBL2	CLIP2	Q9UDT6	838
TBL2	GTF2IRD1	Q9UHL9	820
TBL2	FKBP6	O75344	798
TBL2	TRIM50	Q86XT4	787
TBL2	EIF4H	Q15056	783
TBL2	BAZ1B	Q9UIG0	759
TBL2	FKBP10	Q96AY3	758
TBL2	FZD9	O00144	728
TBL2	NSUN5	Q96P11	722
TBL2	LIMK1	P53667	677
TBL2	TBL1Y	Q9BQ87	661
TBL2	GTF2I	P78347	639
TBL2	RFC2	P32846	638

IntAct

140 interactions, top by confidence:

A	B	Type	Score
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
USP44	CETN2	psi-mi:“MI:0914”(association)	0.690
PDPK1	TBL2	psi-mi:“MI:0915”(physical association)	0.620
GLRA3	KCTD2	psi-mi:“MI:0914”(association)	0.560
PDPK1	PDPK1	psi-mi:“MI:0914”(association)	0.530
DPEP1	ILVBL	psi-mi:“MI:0914”(association)	0.530
PDPK1	HSPA8	psi-mi:“MI:0914”(association)	0.530
MAGEB2	GTPBP10	psi-mi:“MI:0914”(association)	0.530
EVA1C	STK25	psi-mi:“MI:0914”(association)	0.530
RRP8	MAGEB2	psi-mi:“MI:0914”(association)	0.530
EDA	AP3B1	psi-mi:“MI:0914”(association)	0.530
ANKH	FAM234B	psi-mi:“MI:0914”(association)	0.530
NRAS	ESYT2	psi-mi:“MI:2364”(proximity)	0.480
SDC1	ILVBL	psi-mi:“MI:0915”(physical association)	0.400
TBL2		psi-mi:“MI:0915”(physical association)	0.370
JUN	TPM3	psi-mi:“MI:0914”(association)	0.350
	ESYT2	psi-mi:“MI:0914”(association)	0.350
E5	ESYT2	psi-mi:“MI:0914”(association)	0.350
	HAX1	psi-mi:“MI:0914”(association)	0.350
RIPK4	VWA8	psi-mi:“MI:0914”(association)	0.350
PLEKHA7	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
Prdm16	ESYT2	psi-mi:“MI:0914”(association)	0.350
Mecom	ESYT2	psi-mi:“MI:0914”(association)	0.350

BioGRID (266): TBL2 (Affinity Capture-MS), TBL2 (Affinity Capture-MS), TBL2 (Affinity Capture-MS), TBL2 (Affinity Capture-MS), TBL2 (Affinity Capture-MS), TBL2 (Affinity Capture-MS), TBL2 (Affinity Capture-MS), TBL2 (Affinity Capture-MS), TBL2 (Affinity Capture-MS), TBL2 (Affinity Capture-MS), TBL2 (Proximity Label-MS), TBL2 (Proximity Label-MS), TBL2 (Affinity Capture-MS), TBL2 (Affinity Capture-MS), TBL2 (Affinity Capture-MS)

ESM2 similar proteins: A0A2R8QPS5, A0JP70, A4D1P6, B1WC10, B2RYI0, B3MET8, B4GIJ0, B4HND9, B4J8H6, B4KRQ4, B4MFM2, B4QB64, E9PY46, O00423, P97874, Q05BC3, Q16MY0, Q1LZ08, Q28YY2, Q2HJE1, Q2TAF3, Q3U821, Q3UMY5, Q4ADV7, Q4V8C3, Q5R6T6, Q5ZLL7, Q69ZJ7, Q6DFC6, Q6DIP5, Q6PJI9, Q6TEN6, Q6ZN44, Q6ZPG2, Q7TMQ7, Q7ZVR1, Q8BX17, Q8C456, Q8CFJ9, Q8R2N2

Diamond homologs: A2AHJ4, A2QP30, A8IZG4, A8X8C6, B0R0D7, B6QC56, C4JZS6, C4YPI7, C5MJE8, F1LTR1, F4ICD9, G0S8H7, O13923, O22466, O22467, O35142, O42937, O54929, O55029, O75083, O76071, O88342, P0DPA1, P25569, P35605, P35606, P41811, Q09715, Q0V8J1, Q16576, Q17963, Q24572, Q28D01, Q28DW0, Q29RH4, Q3SWX8, Q4KLI9, Q4R304, Q4R4I8, Q4V8C4

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

90 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	64
Likely benign	11
Benign	3

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
563405	GRCh37/hg19 7q11.23(chr7:72589515-74386749)x1	Pathogenic

SpliceAI

1233 predictions. Top by Δscore:

Variant	Effect	Δscore
7:73570968:CCATC:C	acceptor_gain	1.0000
7:73570969:CATC:C	acceptor_gain	1.0000
7:73570969:CATCC:C	acceptor_gain	1.0000
7:73570970:ATC:A	acceptor_gain	1.0000
7:73570971:TC:T	acceptor_gain	1.0000
7:73570972:CC:C	acceptor_gain	1.0000
7:73570973:C:CC	acceptor_gain	1.0000
7:73570979:C:CT	acceptor_gain	1.0000
7:73572966:CTTCC:C	acceptor_gain	1.0000
7:73573314:TCTTA:T	donor_loss	1.0000
7:73573315:CTTAC:C	donor_loss	1.0000
7:73573316:TTAC:T	donor_loss	1.0000
7:73573317:TA:T	donor_loss	1.0000
7:73573318:A:AC	donor_gain	1.0000
7:73573319:C:CC	donor_gain	1.0000
7:73573319:C:CT	donor_loss	1.0000
7:73573467:AGGCT:A	acceptor_gain	1.0000
7:73573468:GGCT:G	acceptor_gain	1.0000
7:73573470:CT:C	acceptor_gain	1.0000
7:73573472:C:CC	acceptor_gain	1.0000
7:73573472:C:CG	acceptor_loss	1.0000
7:73574118:TGGCT:T	acceptor_gain	1.0000
7:73574121:CT:C	acceptor_gain	1.0000
7:73574123:C:CC	acceptor_gain	1.0000
7:73574380:TA:T	donor_loss	1.0000
7:73574381:A:AC	donor_gain	1.0000
7:73574382:C:CC	donor_gain	1.0000
7:73574382:CCTT:C	donor_gain	1.0000
7:73574509:TTGGC:T	acceptor_gain	1.0000
7:73574510:TGGC:T	acceptor_gain	1.0000

AlphaMissense

2942 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
7:73571320:G:C	F249L	0.997
7:73571320:G:T	F249L	0.997
7:73571322:A:G	F249L	0.997
7:73571333:G:T	A245D	0.997
7:73574049:C:G	R112P	0.997
7:73570935:A:G	W306R	0.996
7:73570935:A:T	W306R	0.996
7:73570944:A:G	W303R	0.996
7:73570944:A:T	W303R	0.996
7:73571301:A:G	W256R	0.996
7:73571301:A:T	W256R	0.996
7:73574035:A:G	W117R	0.996
7:73574035:A:T	W117R	0.996
7:73574040:C:G	R115P	0.996
7:73574053:C:G	D111H	0.996
7:73574087:G:C	S99R	0.996
7:73574087:G:T	S99R	0.996
7:73574089:T:G	S99R	0.996
7:73573433:C:G	R162P	0.995
7:73573968:G:T	A139D	0.995
7:73574052:T:A	D111V	0.995
7:73573949:G:C	S145R	0.994
7:73573949:G:T	S145R	0.994
7:73573951:T:G	S145R	0.994
7:73574052:T:G	D111A	0.994
7:73574059:C:G	A109P	0.994
7:73574067:G:T	A106D	0.994
7:73570959:A:G	S298P	0.993
7:73573975:C:G	D137H	0.993
7:73571324:C:T	G248D	0.992

dbSNP variants (sampled 300 via entrez): RS1000106010 (7:73578331 A>G,T), RS1000218636 (7:73573602 C>A,T), RS1000363783 (7:73567533 G>A), RS1000695936 (7:73568967 T>C), RS1000728026 (7:73569316 A>C,G), RS1000959699 (7:73575098 C>T), RS1002229690 (7:73576411 C>T), RS1002687273 (7:73571782 C>T), RS1002955429 (7:73577861 C>T), RS1003200973 (7:73567136 A>C,G), RS1004804107 (7:73570112 G>A), RS1004839066 (7:73577495 A>C,G), RS1006232377 (7:73578556 G>A,T), RS1006515971 (7:73578877 G>A,C), RS1006816639 (7:73572744 G>A,T)

Disease associations

OMIM: gene MIM:605842 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

186 total (30 of 186 shown, HPO-id order):

HPO	Term
HP:0000010	Recurrent urinary tract infections
HP:0000014	Abnormality of the bladder
HP:0000015	Bladder diverticulum
HP:0000023	Inguinal hernia
HP:0000025	Functional abnormality of male internal genitalia
HP:0000028	Cryptorchidism
HP:0000044	Hypogonadotropic hypogonadism
HP:0000075	Renal duplication
HP:0000076	Vesicoureteral reflux
HP:0000083	Renal insufficiency
HP:0000089	Renal hypoplasia
HP:0000093	Proteinuria
HP:0000121	Nephrocalcinosis
HP:0000125	Pelvic kidney
HP:0000147	Polycystic ovaries
HP:0000154	Wide mouth
HP:0000158	Macroglossia
HP:0000179	Thick lower lip vermilion
HP:0000212	Gingival overgrowth
HP:0000232	Everted lower lip vermilion
HP:0000252	Microcephaly
HP:0000275	Narrow face
HP:0000280	Coarse facial features
HP:0000286	Epicanthus
HP:0000307	Pointed chin
HP:0000337	Broad forehead
HP:0000343	Long philtrum
HP:0000347	Micrognathia
HP:0000348	High forehead
HP:0000358	Posteriorly rotated ears

GWAS associations

26 associations (top):

Study	Trait	p-value
GCST000138_1	Triglycerides	7.000000e-22
GCST000809_10	Triglycerides	2.000000e-12
GCST001230_5	Triglycerides	1.000000e-15
GCST001234_4	Gamma glutamyl transpeptidase	6.000000e-10
GCST001762_134	Obesity-related traits	6.000000e-06
GCST001905_7	Hypertriglyceridemia	2.000000e-06
GCST002650_8	Coffee consumption (cups per day)	3.000000e-11
GCST003743_3	Hypertriglyceridemia	2.000000e-13
GCST006004_1	Low density lipoprotein cholesterol levels	5.000000e-09
GCST007094_3	Diastolic blood pressure	1.000000e-09
GCST008972_127	Urate levels	5.000000e-11
GCST009367_69	HDL cholesterol levels x short total sleep time interaction (2df test)	5.000000e-13
GCST009368_40	HDL cholesterol levels x long total sleep time interaction (2df test)	2.000000e-16
GCST010133_5	Lamb consumption	5.000000e-09
GCST010134_3	Non-oily fish consumption	3.000000e-09
GCST010143_15	Meat-related diet	4.000000e-08
GCST010143_21	Meat-related diet	3.000000e-11
GCST010725_13	Malaria	8.000000e-06
GCST010725_74	Malaria	6.000000e-06
GCST010725_91	Malaria	7.000000e-06
GCST011347_29	Low density lipoprotein cholesterol levels	3.000000e-08
GCST011348_12	High density lipoprotein cholesterol levels	2.000000e-16
GCST011349_8	Gamma glutamyl transferase levels	2.000000e-21
GCST012338_23	Gout	2.000000e-13
GCST90000025_350	Appendicular lean mass	3.000000e-22
GCST90011898_103	Alanine aminotransferase levels	7.000000e-16

EFO canonical traits (11, from GWAS)

EFO ID	Trait name
EFO:0004530	triglyceride measurement
EFO:0004532	serum gamma-glutamyl transferase measurement
EFO:0004626	IGFBP-3 measurement
EFO:0004330	coffee consumption
EFO:0006782	cups of coffee per day measurement
EFO:0004611	low density lipoprotein cholesterol measurement
EFO:0006336	diastolic blood pressure
EFO:0004531	urate measurement
EFO:0004612	high density lipoprotein cholesterol measurement
EFO:0008111	diet measurement
EFO:0004980	appendicular lean mass

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL6067215 (SINGLE PROTEIN)

PharmGKB: 1 entry (VIP=true, CPIC=false)

ChEMBL bioactivities

2 potent at pChembl≥5 of 2 total, top 2 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
5.43	Kd	3695	nM	CHEMBL5653589
5.43	ED50	3695	nM	CHEMBL5653589

PubChem BioAssay actives

1 with measured affinity, of 2 total; 1 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	2149558: Binding affinity to human TBL2 incubated for 45 mins by Kinobead based pull down assay	kd	3.6954	uM

CTD chemical–gene interactions

29 total (human), top 29 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Cyclosporine	affects expression, increases expression	3
Cadmium Chloride	increases expression	2
aristolochic acid I	decreases expression	1
GSK-J4	decreases expression	1
di-n-butylphosphoric acid	affects expression	1
Am 580	increases expression	1
pentabromodiphenyl ether	increases expression	1
CGP 52608	affects binding, increases reaction	1
bisphenol B	increases expression	1
abrine	increases expression	1
2,2’,4,4’-tetrabromodiphenyl ether	increases expression	1
(+)-JQ1 compound	decreases expression	1
bisphenol AF	increases expression	1
Rosiglitazone	increases expression	1
Benzo(a)pyrene	affects methylation, decreases methylation	1
Enzyme Inhibitors	decreases activity, increases O-linked glycosylation	1
Estradiol	increases expression	1
Ethyl Methanesulfonate	decreases expression	1
Ivermectin	decreases expression	1
Methyl Methanesulfonate	decreases expression	1
Ribonucleotides	affects binding	1
Rotenone	decreases expression	1
Dronabinol	decreases expression	1
Thiram	decreases expression	1
Tretinoin	increases expression	1
Valproic Acid	affects expression	1
Sodium Selenite	increases expression	1
Copper Sulfate	decreases expression	1
Chlorodiphenyl (54% Chlorine)	decreases expression	1

ChEMBL screening assays

1 unique, capped per target: 1 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL5652600	Binding	Binding affinity to human TBL2 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.