Gene Gene information from NCBI Gene database.
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
miRNA miRNA information provided by mirtarbase database.
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
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
611865 18594 ENSG00000100395
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
YRVLLRYEGFENDASHDFWCNLGTVDVHPIGWCAINSKILVPPRTIH
AKFTDWKGYLMKR
LVGSRTLPVDFHIKMVESMKYPFRQGMRLEVVDKSQVSRTRMAVVDTVIGGRLRLLYEDG
DSDDDFWCHMWSPLIHPVGWSRRVGHGIKMSER
RSDMAHHPTFRKIYCDAVPYLFKKVRA
VYTEGGWFEEGMKLEAIDPLNLGNICVATVCKVLLDGYLMICVDGGPSTDGLDWFCYHAS
SHAIFPATFCQKNDIELTPPKGYE
AQTFNWENYLEKTKSKAAPSRLFNMDCPNHGFKVGM
KLEAVDLMEPRLICVATVKRVVHRLLSIHFDGWDSEYDQWVDCESPDIYPVGWCELTGYQ
LQPPVAAE
PATPLKAKEATKKKKKQFGKKRKRIPPTKTRPLRQGSKKPLLEDDPQGARKI
SSEPVPGEIIAVRVKEEHLDVASPDKASSPELPVSVENIKQETDD
Sequence length 705
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Polycomb repressive complex   SUMOylation of chromatin organization proteins
Transcriptional Regulation by E2F6
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
2
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Non-obstructive azoospermia Pathogenic rs551286952 RCV004577395
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
EBV-positive nodal T- and NK-cell lymphoma Likely benign rs199544355 RCV004557768
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Brain Neoplasms Associate 12588862
Migraine Disorders Associate 34273149
Neoplasms Inhibit 12588862, 37992172
Osteosarcoma Associate 37992172