Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	83746
Gene name	L3MBTL histone methyl-lysine binding protein 2
Gene symbol	L3MBTL2
Synonyms (NCBI Gene)	H-l(3)mbt-lL3MBT
Chromosome	22
Chromosome location	22q13.2

175

Show/Hide all (175)

miRTarBase ID	miRNA	Experiments	Reference
MIRT042333	hsa-miR-484	CLASH	23622248
MIRT037598	hsa-miR-744-5p	CLASH	23622248
MIRT532639	hsa-miR-4668-3p	PAR-CLIP	22012620
MIRT532638	hsa-miR-8063	PAR-CLIP	22012620
MIRT532637	hsa-miR-6890-3p	PAR-CLIP	22012620
MIRT532636	hsa-miR-4793-5p	PAR-CLIP	22012620
MIRT532635	hsa-miR-5587-5p	PAR-CLIP	22012620
MIRT532639	hsa-miR-4668-3p	PAR-CLIP	22012620
MIRT532638	hsa-miR-8063	PAR-CLIP	22012620
MIRT532637	hsa-miR-6890-3p	PAR-CLIP	22012620
MIRT532636	hsa-miR-4793-5p	PAR-CLIP	22012620
MIRT532635	hsa-miR-5587-5p	PAR-CLIP	22012620
MIRT1102935	hsa-miR-1913	CLIP-seq
MIRT1102936	hsa-miR-298	CLIP-seq
MIRT1102937	hsa-miR-324-3p	CLIP-seq
MIRT1102938	hsa-miR-3616-3p	CLIP-seq
MIRT1102939	hsa-miR-3621	CLIP-seq
MIRT1102940	hsa-miR-3684	CLIP-seq
MIRT1102941	hsa-miR-3692	CLIP-seq
MIRT1102942	hsa-miR-3922-5p	CLIP-seq
MIRT1102943	hsa-miR-3937	CLIP-seq
MIRT1102944	hsa-miR-4313	CLIP-seq
MIRT1102945	hsa-miR-4436b-3p	CLIP-seq
MIRT1102946	hsa-miR-4660	CLIP-seq
MIRT1102947	hsa-miR-4717-5p	CLIP-seq
MIRT1102948	hsa-miR-4728-5p	CLIP-seq
MIRT1102949	hsa-miR-4753-5p	CLIP-seq
MIRT1102950	hsa-miR-485-5p	CLIP-seq
MIRT1102951	hsa-miR-646	CLIP-seq
MIRT2028156	hsa-miR-1208	CLIP-seq
MIRT2028157	hsa-miR-2278	CLIP-seq
MIRT738686	hsa-miR-27a	CLIP-seq
MIRT738687	hsa-miR-27b	CLIP-seq
MIRT738684	hsa-miR-3065-3p	CLIP-seq
MIRT738688	hsa-miR-3614-3p	CLIP-seq
MIRT2028158	hsa-miR-431	CLIP-seq
MIRT2028159	hsa-miR-4420	CLIP-seq
MIRT2028160	hsa-miR-4477b	CLIP-seq
MIRT2028161	hsa-miR-4496	CLIP-seq
MIRT2028162	hsa-miR-4514	CLIP-seq
MIRT2028163	hsa-miR-4532	CLIP-seq
MIRT2028164	hsa-miR-4690-5p	CLIP-seq
MIRT2028165	hsa-miR-4692	CLIP-seq
MIRT2028166	hsa-miR-4768-3p	CLIP-seq
MIRT2028167	hsa-miR-4797-5p	CLIP-seq
MIRT2028168	hsa-miR-510	CLIP-seq
MIRT738685	hsa-miR-513a-5p	CLIP-seq
MIRT2028169	hsa-miR-630	CLIP-seq
MIRT2028170	hsa-miR-643	CLIP-seq
MIRT2028171	hsa-miR-651	CLIP-seq
MIRT2259286	hsa-miR-106a	CLIP-seq
MIRT2259287	hsa-miR-106b	CLIP-seq
MIRT2259288	hsa-miR-1292	CLIP-seq
MIRT2259289	hsa-miR-149	CLIP-seq
MIRT2259290	hsa-miR-17	CLIP-seq
MIRT2259291	hsa-miR-20a	CLIP-seq
MIRT2259292	hsa-miR-20b	CLIP-seq
MIRT2259293	hsa-miR-214	CLIP-seq
MIRT2028157	hsa-miR-2278	CLIP-seq
MIRT738686	hsa-miR-27a	CLIP-seq
MIRT738687	hsa-miR-27b	CLIP-seq
MIRT2259294	hsa-miR-3064-5p	CLIP-seq
MIRT2259295	hsa-miR-3122	CLIP-seq
MIRT2259296	hsa-miR-3148	CLIP-seq
MIRT2259297	hsa-miR-3612	CLIP-seq
MIRT2259298	hsa-miR-3619-5p	CLIP-seq
MIRT2259299	hsa-miR-3622b-5p	CLIP-seq
MIRT2259300	hsa-miR-3652	CLIP-seq
MIRT2259301	hsa-miR-3913-5p	CLIP-seq
MIRT2259302	hsa-miR-4267	CLIP-seq
MIRT2259303	hsa-miR-4321	CLIP-seq
MIRT2259304	hsa-miR-4430	CLIP-seq
MIRT2259305	hsa-miR-4433	CLIP-seq
MIRT2259306	hsa-miR-4443	CLIP-seq
MIRT2259307	hsa-miR-4459	CLIP-seq
MIRT2259308	hsa-miR-4471	CLIP-seq
MIRT2259309	hsa-miR-4505	CLIP-seq
MIRT2259310	hsa-miR-4508	CLIP-seq
MIRT2028162	hsa-miR-4514	CLIP-seq
MIRT2259311	hsa-miR-4530	CLIP-seq
MIRT2259312	hsa-miR-4667-5p	CLIP-seq
MIRT2259313	hsa-miR-4680-5p	CLIP-seq
MIRT2028164	hsa-miR-4690-5p	CLIP-seq
MIRT2259314	hsa-miR-4691-5p	CLIP-seq
MIRT2028165	hsa-miR-4692	CLIP-seq
MIRT2259315	hsa-miR-4700-5p	CLIP-seq
MIRT2028166	hsa-miR-4768-3p	CLIP-seq
MIRT2259316	hsa-miR-4781-5p	CLIP-seq
MIRT2259317	hsa-miR-4794	CLIP-seq
MIRT738685	hsa-miR-513a-5p	CLIP-seq
MIRT2259318	hsa-miR-519a	CLIP-seq
MIRT2259319	hsa-miR-519b-3p	CLIP-seq
MIRT2259320	hsa-miR-519c-3p	CLIP-seq
MIRT2259321	hsa-miR-519d	CLIP-seq
MIRT2259322	hsa-miR-520g	CLIP-seq
MIRT2259323	hsa-miR-520h	CLIP-seq
MIRT2259324	hsa-miR-622	CLIP-seq
MIRT2259325	hsa-miR-637	CLIP-seq
MIRT2259326	hsa-miR-650	CLIP-seq
MIRT2259327	hsa-miR-744	CLIP-seq
MIRT2259328	hsa-miR-761	CLIP-seq
MIRT2259329	hsa-miR-875-3p	CLIP-seq
MIRT2259330	hsa-miR-876-3p	CLIP-seq
MIRT2259331	hsa-miR-93	CLIP-seq
MIRT2259332	hsa-miR-944	CLIP-seq
MIRT2390063	hsa-miR-4775	CLIP-seq
MIRT2452840	hsa-miR-1910	CLIP-seq
MIRT2452841	hsa-miR-455-3p	CLIP-seq
MIRT2452842	hsa-miR-4719	CLIP-seq
MIRT2559586	hsa-miR-1294	CLIP-seq
MIRT2559587	hsa-miR-1304	CLIP-seq
MIRT2559588	hsa-miR-1827	CLIP-seq
MIRT2559589	hsa-miR-2467-3p	CLIP-seq
MIRT2559590	hsa-miR-2467-5p	CLIP-seq
MIRT2559591	hsa-miR-3150a-3p	CLIP-seq
MIRT2559592	hsa-miR-3175	CLIP-seq
MIRT2559593	hsa-miR-3188	CLIP-seq
MIRT2259299	hsa-miR-3622b-5p	CLIP-seq
MIRT2559594	hsa-miR-362-5p	CLIP-seq
MIRT2559595	hsa-miR-3657	CLIP-seq
MIRT2559596	hsa-miR-377	CLIP-seq
MIRT2559597	hsa-miR-3909	CLIP-seq
MIRT2559598	hsa-miR-3929	CLIP-seq
MIRT2559599	hsa-miR-3975	CLIP-seq
MIRT2259302	hsa-miR-4267	CLIP-seq
MIRT2028158	hsa-miR-431	CLIP-seq
MIRT2559600	hsa-miR-4419b	CLIP-seq
MIRT2559601	hsa-miR-4478	CLIP-seq
MIRT2559602	hsa-miR-4643	CLIP-seq
MIRT2559603	hsa-miR-4645-5p	CLIP-seq
MIRT2559604	hsa-miR-4659a-3p	CLIP-seq
MIRT2559605	hsa-miR-4659b-3p	CLIP-seq
MIRT2259312	hsa-miR-4667-5p	CLIP-seq
MIRT2559606	hsa-miR-4669	CLIP-seq
MIRT2559607	hsa-miR-4673	CLIP-seq
MIRT2559608	hsa-miR-4684-3p	CLIP-seq
MIRT2259314	hsa-miR-4691-5p	CLIP-seq
MIRT2259315	hsa-miR-4700-5p	CLIP-seq
MIRT2559609	hsa-miR-4749-3p	CLIP-seq
MIRT2028167	hsa-miR-4797-5p	CLIP-seq
MIRT1102950	hsa-miR-485-5p	CLIP-seq
MIRT2559610	hsa-miR-500b	CLIP-seq
MIRT2559611	hsa-miR-511	CLIP-seq
MIRT2559612	hsa-miR-526b	CLIP-seq
MIRT2559613	hsa-miR-576-3p	CLIP-seq
MIRT2259325	hsa-miR-637	CLIP-seq
MIRT2559614	hsa-miR-766	CLIP-seq
MIRT2559615	hsa-miR-885-3p	CLIP-seq
MIRT2559616	hsa-miR-939	CLIP-seq
MIRT2559586	hsa-miR-1294	CLIP-seq
MIRT2559591	hsa-miR-3150a-3p	CLIP-seq
MIRT2559592	hsa-miR-3175	CLIP-seq
MIRT2559594	hsa-miR-362-5p	CLIP-seq
MIRT2559595	hsa-miR-3657	CLIP-seq
MIRT2559596	hsa-miR-377	CLIP-seq
MIRT2559597	hsa-miR-3909	CLIP-seq
MIRT2259302	hsa-miR-4267	CLIP-seq
MIRT2028158	hsa-miR-431	CLIP-seq
MIRT2559603	hsa-miR-4645-5p	CLIP-seq
MIRT2259312	hsa-miR-4667-5p	CLIP-seq
MIRT2559606	hsa-miR-4669	CLIP-seq
MIRT2559607	hsa-miR-4673	CLIP-seq
MIRT2559608	hsa-miR-4684-3p	CLIP-seq
MIRT2259314	hsa-miR-4691-5p	CLIP-seq
MIRT2259315	hsa-miR-4700-5p	CLIP-seq
MIRT2559609	hsa-miR-4749-3p	CLIP-seq
MIRT2028167	hsa-miR-4797-5p	CLIP-seq
MIRT2559610	hsa-miR-500b	CLIP-seq
MIRT2559611	hsa-miR-511	CLIP-seq
MIRT2559612	hsa-miR-526b	CLIP-seq
MIRT2559613	hsa-miR-576-3p	CLIP-seq
MIRT2259325	hsa-miR-637	CLIP-seq
MIRT2559614	hsa-miR-766	CLIP-seq
MIRT2559615	hsa-miR-885-3p	CLIP-seq
MIRT2559616	hsa-miR-939	CLIP-seq

Show/Hide all (20)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003682	Function	Chromatin binding	IBA
GO:0005515	Function	Protein binding	IPI	16189514, 20385135, 24981860, 25416956, 25609649, 26871637, 27705803, 32296183, 33961781
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0006325	Process	Chromatin organization	IEA
GO:0006325	Process	Chromatin organization	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0007398	Process	Ectoderm development	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0010629	Process	Negative regulation of gene expression	IEA
GO:0042393	Function	Histone binding	IDA	17540172
GO:0045892	Process	Negative regulation of DNA-templated transcription	IBA
GO:0046872	Function	Metal ion binding	IEA
GO:0048863	Process	Stem cell differentiation	IEA
GO:0072089	Process	Stem cell proliferation	IEA
GO:0140005	Function	Histone H4K20me2 reader activity	IDA	19233876
GO:0140117	Function	Histone H4K20me1 reader activity	IDA	19233876
GO:1990841	Function	Promoter-specific chromatin binding	IEA

MIM	HGNC	e!Ensembl
611865	18594	ENSG00000100395

Q969R5

Protein name

Lethal(3)malignant brain tumor-like protein 2 (H-l(3)mbt-like protein 2) (L(3)mbt-like protein 2)

Protein 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-remode

PDB

2W0T , 3CEY , 3F70

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02820	MBT	214 → 287	mbt repeat	Domain
PF02820	MBT	327 → 393	mbt repeat	Domain
PF02820	MBT	432 → 504	mbt repeat	Domain
PF02820	MBT	540 → 608	mbt repeat	Domain

Sequence

MEKPRSIEETPSSEPMEEEEDDDLELFGGYDSFRSYNSSVGSESSSYLEESSEAENEDRE
AGELPTSPLHLLSPGTPRSLDGSGSEPAVCEMCGIVGTREAFFSKTKRFCSVSCSRSYSS
NSKKASILARLQGKPPTKKAKVLHKAAWSAKIGAFLHSQGTGQLADGTPTGQDALVLGFD
WGKFLKDHSYKAAPVSCFKHVPLYDQWEDVMKGMKVEVLNSDAVLPSRVYWIASVIQTAG
YRVLLRYEGFENDASHDFWCNLGTVDVHPIGWCAINSKILVPPRTIHAKFTDWKGYLMKR
LVGSRTLPVDFHIKMVESMKYPFRQGMRLEVVDKSQVSRTRMAVVDTVIGGRLRLLYEDG
DSDDDFWCHMWSPLIHPVGWSRRVGHGIKMSERRSDMAHHPTFRKIYCDAVPYLFKKVRA
VYTEGGWFEEGMKLEAIDPLNLGNICVATVCKVLLDGYLMICVDGGPSTDGLDWFCYHAS
SHAIFPATFCQKNDIELTPPKGYEAQTFNWENYLEKTKSKAAPSRLFNMDCPNHGFKVGM
KLEAVDLMEPRLICVATVKRVVHRLLSIHFDGWDSEYDQWVDCESPDIYPVGWCELTGYQ
LQPPVAAEPATPLKAKEATKKKKKQFGKKRKRIPPTKTRPLRQGSKKPLLEDDPQGARKI
SSEPVPGEIIAVRVKEEHLDVASPDKASSPELPVSVENIKQETDD

Sequence length

705

Interactions

View interactions

	KEGG		Reactome
	Polycomb repressive complex		SUMOylation of chromatin organization proteins Transcriptional Regulation by E2F6

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Non-obstructive azoospermia	Pathogenic	rs551286952	RCV004577395	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (17)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ANOREXIA NERVOSA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EBV-positive nodal T- and NK-cell lymphoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MEDULLOBLASTOMA	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MIGRAINE DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROTIC DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBSESSIVE-COMPULSIVE DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TESTICULAR AZOOSPERMIA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TOURETTE SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UTERINE FIBROID	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (20)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adult Medulloblastoma	Medulloblastoma	CTD_human_DG	19270706		★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	12588862, 21857667, 24243547, 31453329		★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	12588862	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	GWASCAT_DG	29059683		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Childhood Medulloblastoma	Medulloblastoma	CTD_human_DG	19270706		★★★★★ ★☆☆☆☆ Found in Text Mining only
Desmoplastic Medulloblastoma	Medulloblastoma	CTD_human_DG	19270706		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	20585043		★★★★★ ★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	GWASCAT_DG	27479909, 29700475		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Major Depressive Disorder	Mental Depression	BEFREE	30010129		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant neoplasm of brain	Brain Neoplasms	BEFREE	10445843, 15334543, 28552546, 30760872		★★★★★ ★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	CTD_human_DG	19270706		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Medullomyoblastoma	Medullomyoblastoma	CTD_human_DG	19270706		★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanotic medulloblastoma	Medulloblastoma	CTD_human_DG	19270706		★★★★★ ★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	Pubtator	34273149	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10445843, 12588862, 15334543, 20585043, 21857667, 24243547, 29511022		★★★★★ ★☆☆☆☆ Found in Text Mining only
NEUROTICISM	Neuroticism	BEFREE	27918536		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	37992172	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Polycythemia Vera	Polycythemia Vera	BEFREE	20585043		★★★★★ ★☆☆☆☆ Found in Text Mining only
Teratozoospermia	Teratozoospermia	BEFREE	30760872		★★★★★ ★☆☆☆☆ Found in Text Mining only
Testicular hypogonadism	Testicular Hypogonadism	BEFREE	30760872		★★★★★ ★☆☆☆☆ Found in Text Mining only

L3MBTL2 (L3MBTL histone methyl-lysine binding protein 2)