L3MBTL2

Summary

L3MBTL2 (L3MBTL histone methyl-lysine binding protein 2, HGNC:18594) is a protein-coding gene on chromosome 22q13.2, encoding Lethal(3)malignant brain tumor-like protein 2 (Q969R5). Putative Polycomb group (PcG) protein.

Enables methylated histone binding activity. Predicted to be involved in negative regulation of DNA-templated transcription. Predicted to act upstream of or within several processes, including ectoderm development; stem cell differentiation; and stem cell proliferation. Located in nucleus.

Source: NCBI Gene 83746 — RefSeq curated summary.

At a glance

• GWAS associations: 15
• Clinical variants (ClinVar): 88 total — 1 pathogenic
• MANE Select transcript: NM_031488

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:18594
Approved symbol	L3MBTL2
Name	L3MBTL histone methyl-lysine binding protein 2
Location	22q13.2
Locus type	gene with protein product
Status	Approved
Aliases	H-l(3)mbt-l, DKFZP761I141, dJ756G23.3
Ensembl gene	ENSG00000100395
Ensembl biotype	protein_coding
OMIM	611865
Entrez	83746

Gene structure

Transcript identifiers

Ensembl transcripts: 20 — 13 protein_coding, 3 retained_intron, 2 nonsense_mediated_decay, 2 protein_coding_CDS_not_defined

ENST00000216237, ENST00000449635, ENST00000450939, ENST00000452106, ENST00000453659, ENST00000466589, ENST00000479978, ENST00000481902, ENST00000489136, ENST00000892680, ENST00000892681, ENST00000892682, ENST00000922932, ENST00000922933, ENST00000922934, ENST00000969168, ENST00000969169, ENST00000969170, ENST00000969171, ENST00000969172

RefSeq mRNA: 1 — MANE Select: NM_031488 NM_031488

CCDS: CCDS14011

Canonical transcript exons

ENST00000216237 — 17 exons

Exon	Start	End
ENSE00001342488	41227089	41227323
ENSE00003490172	41213893	41214026
ENSE00003496901	41227804	41227869
ENSE00003518766	41224725	41224801
ENSE00003522971	41225794	41225941
ENSE00003533956	41221199	41221287
ENSE00003540788	41224967	41225071
ENSE00003541555	41226662	41226744
ENSE00003548756	41216139	41216262
ENSE00003551930	41224020	41224251
ENSE00003591967	41219419	41219536
ENSE00003665113	41229540	41229656
ENSE00003671502	41220734	41220868
ENSE00003675137	41209696	41209933
ENSE00003688346	41217123	41217202
ENSE00003692834	41230139	41231271
ENSE00003971982	41205312	41205386

Expression profiles

Bgee: expression breadth ubiquitous, 257 present calls, max score 96.11.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 11.2080 / max 143.5361, expressed in 1790 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
192454	10.8120	1789
192455	0.3959	193

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
pancreatic ductal cell	CL:0002079	96.11	gold quality
kidney epithelium	UBERON:0004819	92.67	gold quality
tibialis anterior	UBERON:0001385	92.36	silver quality
parotid gland	UBERON:0001831	90.91	gold quality
nasal cavity epithelium	UBERON:0005384	90.60	silver quality
epithelial cell of pancreas	CL:0000083	90.54	silver quality
upper arm skin	UBERON:0004263	90.42	silver quality
ileal mucosa	UBERON:0000331	89.32	gold quality
cerebellar vermis	UBERON:0004720	89.01	gold quality
lateral globus pallidus	UBERON:0002476	88.80	gold quality
gingival epithelium	UBERON:0001949	88.58	gold quality
right frontal lobe	UBERON:0002810	88.54	gold quality
deltoid	UBERON:0001476	88.50	silver quality
lateral nuclear group of thalamus	UBERON:0002736	88.20	gold quality
myocardium	UBERON:0002349	88.16	silver quality
granulocyte	CL:0000094	88.14	gold quality
Brodmann (1909) area 9	UBERON:0013540	88.07	gold quality
prefrontal cortex	UBERON:0000451	88.06	gold quality
right hemisphere of cerebellum	UBERON:0014890	88.02	gold quality
pituitary gland	UBERON:0000007	87.79	gold quality
adenohypophysis	UBERON:0002196	87.56	gold quality
cerebellar hemisphere	UBERON:0002245	87.55	gold quality
cerebellar cortex	UBERON:0002129	87.54	gold quality
germinal epithelium of ovary	UBERON:0001304	87.42	gold quality
quadriceps femoris	UBERON:0001377	87.40	silver quality
tendon of biceps brachii	UBERON:0008188	87.29	silver quality
apex of heart	UBERON:0002098	87.17	gold quality
cerebellum	UBERON:0002037	87.13	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	87.05	gold quality
frontal cortex	UBERON:0001870	87.05	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	5.82
E-HCAD-5	no	2.27

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

38 targeting L3MBTL2, 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-4692	100.00	67.32	2066
HSA-MIR-6798-5P	100.00	65.77	699
HSA-MIR-4514	99.99	67.10	1870
HSA-MIR-4267	99.96	66.53	2368
HSA-MIR-6825-5P	99.96	69.81	3431
HSA-MIR-4302	99.89	67.94	1187
HSA-MIR-3941	99.86	70.54	2735
HSA-MIR-3133	99.81	70.92	3506
HSA-MIR-6086	99.70	65.38	699
HSA-MIR-6512-3P	99.65	66.07	1468
HSA-MIR-6720-5P	99.65	66.22	1459
HSA-MIR-4753-5P	99.54	68.51	1356
HSA-MIR-4672	99.50	71.58	2893
HSA-MIR-4292	99.16	65.57	1767
HSA-MIR-6791-5P	99.16	65.92	1844
HSA-MIR-6768-3P	99.14	67.38	1319
HSA-MIR-485-5P	99.10	64.78	1889
HSA-MIR-6884-5P	99.10	64.50	1987
HSA-MIR-6749-3P	99.00	65.73	1443
HSA-MIR-3926	98.95	69.26	1438
HSA-MIR-1304-5P	98.90	68.58	1054
HSA-MIR-4451	98.82	68.17	1455
HSA-MIR-876-3P	98.76	68.23	945
HSA-MIR-4700-5P	98.63	67.43	1915
HSA-MIR-323A-5P	98.59	65.13	651
HSA-MIR-4443	98.02	66.25	1928
HSA-MIR-8089	97.74	66.21	1698
HSA-MIR-3652	97.71	65.43	1890
HSA-MIR-4667-5P	97.61	66.67	1683
HSA-MIR-4308	97.56	67.13	1385

Literature-anchored findings (GeneRIF, showing 6)

• High-resolution crystallographic analysis of the four MBT repeats of L3MBTL2 reveals its unique asymmetric rhomboid architecture, as well as binding mechanism, which preclude the interaction of the first three MBT repeats with methylated peptides. (PMID:19233876)
• determination of the solution structure of the FCS zinc finger of L3MBTL2; structure consists of a beta-hairpin followed by an alpha-helix; structure is consistent with the proposal that FCS zinc fingers bind to regulatory RNAs (PMID:19241375)
• Our findings highlight a PcG/L3MBTL2 collaboration that attains repressive chromatin without entailing histone lysine methylation marks. (PMID:21596310)
• L3MBTL2 polymorphism is associated with neuroticism. (PMID:27918536)
• L3MBTL2 orchestrates ubiquitin signalling by dictating the sequential recruitment of RNF8 and RNF168 after DNA damage, regulating the DNA damage response pathway. (PMID:29581593)
• Augmenting L3MBTL2-induced condensates suppresses tumor growth in osteosarcoma. (PMID:37992172)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	l3mbtl2	ENSDARG00000056079
mus_musculus	L3mbtl2	ENSMUSG00000022394
rattus_norvegicus	L3mbtl2	ENSRNOG00000024743

Paralogs (18): SCMH1 (ENSG00000010803), MBTD1 (ENSG00000011258), SCML1 (ENSG00000047634), SCML2 (ENSG00000102098), PHC1 (ENSG00000111752), THAP10 (ENSG00000129028), PHC2 (ENSG00000134686), SAMD1 (ENSG00000141858), SCML4 (ENSG00000146285), L3MBTL4 (ENSG00000154655), SFMBT1 (ENSG00000163935), PHC3 (ENSG00000173889), L3MBTL1 (ENSG00000185513), SAMD7 (ENSG00000187033), SAMD11 (ENSG00000187634), SFMBT2 (ENSG00000198879), L3MBTL3 (ENSG00000198945), SAMD13 (ENSG00000203943)

Protein

Protein identifiers

Lethal(3)malignant brain tumor-like protein 2 — Q969R5 (reviewed: Q969R5)

All UniProt accessions (4): Q969R5, A0A0S2Z5X6, H0Y5M2, H7C228

UniProt curated annotations — full annotation on UniProt →

Function. Putative Polycomb group (PcG) protein. PcG proteins maintain the transcriptionally repressive state of genes, probably via a modification of chromatin, rendering it heritably changed in its expressibility. Its association with a chromatin-remodeling complex suggests that it may contribute to prevent expression of genes that trigger the cell into mitosis. Binds to monomethylated and dimethylated ‘Lys-20’ on histone H4. Binds histone H3 peptides that are monomethylated or dimethylated on ‘Lys-4’, ‘Lys-9’ or ‘Lys-27’.

Subunit / interactions. Part of the E2F6.com-1 complex in G0 phase composed of E2F6, MGA, MAX, TFDP1, CBX3, BAT8, EUHMTASE1, RING1, RNF2, MBLR, BAT8 and YAF2.

Subcellular location. Nucleus.

Isoforms (3)

UniProt ID	Names	Canonical?
Q969R5-1	1, A	yes
Q969R5-2	2, B
Q969R5-3	3

RefSeq proteins (1): NP_113676* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR004092	Mbt	Domain
IPR012313	Znf_FCS	Domain
IPR038603	Znf_FCS_sf	Homologous_superfamily
IPR047356	MBT_L3MBTL2_rpt1	Repeat
IPR047357	MBT_L3MBTL2_rpt2	Repeat
IPR050548	PcG_chromatin_remod_factors	Family

Pfam: PF02820, PF21319

UniProt features (82 total): strand 25, helix 16, modified residue 7, cross-link 6, repeat 4, compositionally biased region 4, binding site 4, splice variant 4, turn 4, sequence variant 3, region of interest 3, chain 1, zinc finger region 1

Structure

Experimental structures (PDB)

3 structures.

PDB	Method	Resolution (Å)
3F70	X-RAY DIFFRACTION	2.1
3CEY	X-RAY DIFFRACTION	2.2
2W0T	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q969R5-F1	74.99	0.53

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 (4): 90; 93; 110; 114

Post-translational modifications (13): 13, 67, 76, 338, 683, 688, 689, 405, 647, 659, 675, 700, 700

Function

Pathways and Gene Ontology

Reactome pathways

9 pathways

ID	Pathway
R-HSA-4551638	SUMOylation of chromatin organization proteins
R-HSA-8953750	Transcriptional Regulation by E2F6
R-HSA-212436	Generic Transcription Pathway
R-HSA-2990846	SUMOylation
R-HSA-3108232	SUMO E3 ligases SUMOylate target proteins
R-HSA-392499	Metabolism of proteins
R-HSA-597592	Post-translational protein modification
R-HSA-73857	RNA Polymerase II Transcription
R-HSA-74160	Gene expression (Transcription)

MSigDB gene sets: 110 (showing top): GSE45365_NK_CELL_VS_CD11B_DC_UP, GCANCTGNY_MYOD_Q6, AREB6_03, IVANOVA_HEMATOPOIESIS_LATE_PROGENITOR, GOBP_STEM_CELL_PROLIFERATION, AACWWCAANK_UNKNOWN, MODULE_331, GOBP_ECTODERM_DEVELOPMENT, GOBP_NEGATIVE_REGULATION_OF_GENE_EXPRESSION_EPIGENETIC, RYTTCCTG_ETS2_B, GOCC_NUCLEAR_UBIQUITIN_LIGASE_COMPLEX, FISCHER_DREAM_TARGETS, RFX1_02, GOBP_STEM_CELL_DIFFERENTIATION, GOBP_CHROMATIN_REMODELING

GO Biological Process (7): ectoderm development (GO:0007398), negative regulation of gene expression (GO:0010629), negative regulation of DNA-templated transcription (GO:0045892), stem cell differentiation (GO:0048863), stem cell proliferation (GO:0072089), chromatin organization (GO:0006325), regulation of DNA-templated transcription (GO:0006355)

GO Molecular Function (8): chromatin binding (GO:0003682), zinc ion binding (GO:0008270), histone binding (GO:0042393), histone H4K20me2 reader activity (GO:0140005), histone H4K20me1 reader activity (GO:0140117), promoter-specific chromatin binding (GO:1990841), protein binding (GO:0005515), metal ion binding (GO:0046872)

GO Cellular Component (2): nucleus (GO:0005634), nucleoplasm (GO:0005654)

Reactome top-level categories

Rollup of top-7 pathways:

Category	Pathways
SUMO E3 ligases SUMOylate target proteins	1
Generic Transcription Pathway	1
RNA Polymerase II Transcription	1
Post-translational protein modification	1
SUMOylation	1
Metabolism of proteins	1
Gene expression (Transcription)	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
regulation of gene expression	2
DNA-templated transcription	2
binding	2
histone H4 reader activity	2
tissue development	1
gene expression	1
negative regulation of macromolecule biosynthetic process	1
regulation of DNA-templated transcription	1
negative regulation of RNA biosynthetic process	1
cell differentiation	1
cell population proliferation	1
stem cell division	1
cellular component organization	1
regulation of RNA biosynthetic process	1
transition metal ion binding	1
protein binding	1
chromatin binding	1
cation binding	1
intracellular membrane-bounded organelle	1
nuclear lumen	1
cellular anatomical structure	1

Protein interactions and networks

STRING

2008 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
L3MBTL2	WDR5	P61964	951
L3MBTL2	PCGF6	Q9BYE7	924
L3MBTL2	CBX3	Q13185	876
L3MBTL2	RING1	Q06587	857
L3MBTL2	RNF2	Q99496	798
L3MBTL2	YAF2	Q8IY57	778
L3MBTL2	RYBP	Q8N488	777
L3MBTL2	E2F6	O75461	776
L3MBTL2	PRTN3	P15637	754
L3MBTL2	MYB	P10242	749
L3MBTL2	RNF168	Q8IYW5	685
L3MBTL2	PCGF2	P35227	669
L3MBTL2	TFDP1	Q14186	663
L3MBTL2	RNF8	O76064	640
L3MBTL2	MGA	Q8IWI9	627

IntAct

289 interactions, top by confidence:

A	B	Type	Score
SUV39H1	CBX5	psi-mi:“MI:0914”(association)	0.950
RYBP	CSNK2A2	psi-mi:“MI:0914”(association)	0.900
L3MBTL2	MAX	psi-mi:“MI:0915”(physical association)	0.850
L3MBTL2	MEAF6	psi-mi:“MI:0915”(physical association)	0.740
L3MBTL2	E2F6	psi-mi:“MI:0914”(association)	0.730
RING1	CBX4	psi-mi:“MI:0914”(association)	0.730
L3MBTL2	PHF10	psi-mi:“MI:0915”(physical association)	0.720
PAICS	L3MBTL2	psi-mi:“MI:0915”(physical association)	0.720
STAC3	L3MBTL2	psi-mi:“MI:0915”(physical association)	0.720
L3MBTL2	PAICS	psi-mi:“MI:0915”(physical association)	0.720
L3MBTL2	STAC3	psi-mi:“MI:0915”(physical association)	0.720
L3MBTL2	ZFY	psi-mi:“MI:0915”(physical association)	0.720
L3MBTL2	BEND7	psi-mi:“MI:0915”(physical association)	0.720
PHF10	L3MBTL2	psi-mi:“MI:0915”(physical association)	0.720
ZFY	L3MBTL2	psi-mi:“MI:0915”(physical association)	0.720

BioGRID (336): L3MBTL2 (Two-hybrid), L3MBTL2 (Two-hybrid), L3MBTL2 (Two-hybrid), L3MBTL2 (Two-hybrid), STAC3 (Two-hybrid), TRIM42 (Two-hybrid), L3MBTL2 (Affinity Capture-MS), L3MBTL2 (Affinity Capture-MS), L3MBTL2 (Affinity Capture-MS), L3MBTL2 (Affinity Capture-MS), L3MBTL2 (Affinity Capture-MS), L3MBTL2 (Two-hybrid), L3MBTL2 (Affinity Capture-MS), L3MBTL2 (Two-hybrid), L3MBTL2 (Affinity Capture-MS)

ESM2 similar proteins: A2A5N8, A7E2Z2, B1B1A0, D3ZWK4, E1C2V1, G5E8P1, O70445, O75164, O95696, P59178, P70351, Q08BS4, Q0P4M4, Q13415, Q15910, Q1JQD9, Q28D84, Q3MIF2, Q4R381, Q4V863, Q58DC8, Q5FVG2, Q5R737, Q5RD88, Q5RDS6, Q5TKR9, Q5U243, Q61188, Q6DTM3, Q6P5D3, Q7Z2W4, Q80Z32, Q8BLB7, Q8BRB7, Q8BW72, Q8BZ21, Q8K3E5, Q8NA19, Q8VCD7, Q8WML3

Diamond homologs: A2A5N8, B1B1A0, D3YUG0, D3YXK1, D3ZWK4, E1C2V1, O02274, O60284, O95251, P39769, P59178, P70047, P70475, P78364, P97500, Q01538, Q05BQ5, Q1JQD9, Q1RNF8, Q29L50, Q32N90, Q3MIF2, Q4V7W5, Q5DTW2, Q5R737, Q5SVQ0, Q5VUG0, Q5VXD3, Q64028, Q6DIN3, Q6P5G3, Q6SPE9, Q6SPF0, Q7Z3H4, Q80TY4, Q810T5, Q8BLB7, Q8C8Y5, Q8CFC2, Q8CHP6

SIGNOR signaling

4 interactions.

A	Effect	B	Mechanism
ATM	“up-regulates activity”	L3MBTL2	phosphorylation
L3MBTL2	“up-regulates activity”	MDC1	binding
RNF8	“up-regulates activity”	L3MBTL2	ubiquitination
L3MBTL2	“down-regulates quantity”	RNF168	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 106 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
Transcriptional Regulation by E2F6	7	33.6×	4e-07
RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known	5	24.6×	3e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	71
Likely benign	2
Benign	3

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
2674644	NM_031488.5(L3MBTL2):c.40G>A (p.Glu14Lys)	Pathogenic

SpliceAI

3325 predictions. Top by Δscore:

Variant	Effect	Δscore
22:41205384:GAGGT:G	donor_loss	1.0000
22:41205387:G:C	donor_loss	1.0000
22:41209849:G:GT	donor_gain	1.0000
22:41209849:G:T	donor_gain	1.0000
22:41209985:G:GT	donor_gain	1.0000
22:41216259:GACG:G	donor_gain	1.0000
22:41216261:CGGT:C	donor_loss	1.0000
22:41216262:GGTA:G	donor_loss	1.0000
22:41216263:G:GA	donor_loss	1.0000
22:41216263:G:GG	donor_gain	1.0000
22:41216264:T:A	donor_loss	1.0000
22:41217119:GCA:G	acceptor_loss	1.0000
22:41217120:CA:C	acceptor_loss	1.0000
22:41217121:A:AG	acceptor_gain	1.0000
22:41217121:A:AT	acceptor_loss	1.0000
22:41217122:G:C	acceptor_loss	1.0000
22:41217122:G:GT	acceptor_gain	1.0000
22:41217122:GC:G	acceptor_gain	1.0000
22:41217122:GCT:G	acceptor_gain	1.0000
22:41217122:GCTC:G	acceptor_gain	1.0000
22:41217122:GCTCT:G	acceptor_gain	1.0000
22:41217199:GCAC:G	donor_gain	1.0000
22:41217200:CAC:C	donor_gain	1.0000
22:41217200:CACG:C	donor_loss	1.0000
22:41217201:AC:A	donor_gain	1.0000
22:41217201:ACGT:A	donor_loss	1.0000
22:41217202:CGT:C	donor_loss	1.0000
22:41217203:G:GG	donor_gain	1.0000
22:41217203:G:T	donor_loss	1.0000
22:41217204:T:G	donor_loss	1.0000

AlphaMissense

4663 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
22:41213898:T:A	C90S	1.000
22:41213898:T:C	C90R	1.000
22:41213899:G:A	C90Y	1.000
22:41213899:G:C	C90S	1.000
22:41213899:G:T	C90F	1.000
22:41213900:T:G	C90W	1.000
22:41213905:T:C	M92T	1.000
22:41213907:T:A	C93S	1.000
22:41213907:T:C	C93R	1.000
22:41213908:G:A	C93Y	1.000
22:41213908:G:C	C93S	1.000
22:41213908:G:T	C93F	1.000
22:41213909:T:G	C93W	1.000
22:41213919:G:C	G97R	1.000
22:41213920:G:A	G97D	1.000
22:41213934:T:A	F102I	1.000
22:41213934:T:C	F102L	1.000
22:41213935:T:C	F102S	1.000
22:41213935:T:G	F102C	1.000
22:41213936:C:A	F102L	1.000
22:41213936:C:G	F102L	1.000
22:41213937:T:C	F103L	1.000
22:41213939:C:A	F103L	1.000
22:41213939:C:G	F103L	1.000
22:41213940:T:C	S104P	1.000
22:41213941:C:A	S104Y	1.000
22:41213941:C:T	S104F	1.000
22:41213947:C:T	T106I	1.000
22:41213952:A:G	R108G	1.000
22:41213952:A:T	R108W	1.000

dbSNP variants (sampled 300 via entrez): RS1000360076 (22:41215347 G>A), RS1000424836 (22:41228020 T>C), RS1000514676 (22:41227947 T>C,G), RS1000560308 (22:41213643 C>A,T), RS1000589268 (22:41205154 T>A,C,G), RS1000616584 (22:41216426 T>C), RS1000764117 (22:41210284 G>C), RS1000806377 (22:41207356 A>G), RS1000868896 (22:41208777 C>T), RS1000919490 (22:41205345 T>C,G), RS1001141638 (22:41225349 G>A), RS1001265233 (22:41221100 C>T), RS1001499369 (22:41215761 G>A), RS1001521836 (22:41219167 T>C), RS1001563831 (22:41203583 G>C)

Disease associations

OMIM: gene MIM:611865 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

15 associations (top):

Study	Trait	p-value
GCST002539_94	Schizophrenia	2.000000e-11
GCST003043_197	Inflammatory bowel disease	3.000000e-06
GCST003044_35	Crohn’s disease	2.000000e-10
GCST004017_2	Neuroticism	9.000000e-09
GCST004521_55	Autism spectrum disorder or schizophrenia	9.000000e-09
GCST005232_52	Neuroticism	3.000000e-18
GCST005839_22	Depression	8.000000e-09
GCST006041_3	Major depressive disorder	6.000000e-11
GCST006803_24	Schizophrenia	6.000000e-13
GCST007324_60	Adventurousness	3.000000e-16
GCST007325_6	General risk tolerance (MTAG)	5.000000e-09
GCST009600_38	Anorexia nervosa, attention-deficit/hyperactivity disorder, autism spectrum disorder, bipolar disorder, major depression, obsessive-compulsive disorder, schizophrenia, or Tourette syndrome (pleiotropy)	5.000000e-14
GCST010002_83	Refractive error	2.000000e-27
GCST010133_13	Lamb consumption	3.000000e-08
GCST012354_55	Anxiety	1.000000e-37

EFO canonical traits (4, from GWAS)

EFO ID	Trait name
EFO:0007660	neuroticism measurement
EFO:0008579	risk-taking behaviour
EFO:0008111	diet measurement
EFO:0009863	anxiety measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

25 total (human), top 25 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Aflatoxin B1	increases methylation, increases expression	3
FR900359	increases phosphorylation	1
bisphenol F	decreases expression, affects cotreatment	1
TAK-243	decreases sumoylation	1
bufotalin	decreases expression	1
trichostatin A	decreases expression	1
benzo(e)pyrene	decreases methylation	1
aflatoxin B2	decreases methylation	1
coumarin	increases phosphorylation	1
di-n-butylphosphoric acid	affects expression	1
cylindrospermopsin	increases expression	1
(+)-JQ1 compound	decreases expression	1
Arsenic	affects methylation	1
Benzo(a)pyrene	affects methylation	1
Cadmium	increases abundance, increases expression	1
Dexamethasone	affects cotreatment, decreases expression	1
Indomethacin	affects cotreatment, decreases expression	1
Methapyrilene	decreases methylation	1
Quercetin	decreases phosphorylation	1
Smoke	decreases expression	1
Urethane	decreases expression	1
Valproic Acid	affects expression	1
1-Methyl-3-isobutylxanthine	affects cotreatment, decreases expression	1
Antirheumatic Agents	decreases expression	1
Cadmium Chloride	increases abundance, increases expression	1

Cellosaurus cell lines

7 cell lines: 4 cancer cell line, 3 embryonic stem cell

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_A3T2	SEES3-1V human L3MBTL2, clone1	Embryonic stem cell	Male
CVCL_A3T3	SEES3-1V human L3MBTL2, clone2	Embryonic stem cell	Male
CVCL_A3T4	SEES3-1V human L3MBTL2, clone3	Embryonic stem cell	Male
CVCL_B1VG	Abcam HeLa L3MBTL2 KO	Cancer cell line	Female
CVCL_SV20	HAP1 L3MBTL2 (-) 1	Cancer cell line	Male
CVCL_SV21	HAP1 L3MBTL2 (-) 2	Cancer cell line	Male
CVCL_SV22	HAP1 L3MBTL2 (-) 3	Cancer cell line	Male

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.