Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
83746
Gene name Gene Name - the full gene name approved by the HGNC.
L3MBTL histone methyl-lysine binding protein 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
L3MBTL2
Synonyms (NCBI Gene) Gene synonyms aliases
H-l(3)mbt-l, L3MBT
Chromosome Chromosome number
22
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
22q13.2
miRNA miRNA information provided by mirtarbase database.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
611865 18594 ENSG00000100395
Protein
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Anxiety Disorder Anxiety N/A N/A GWAS
Breast Cancer Breast cancer N/A N/A GWAS
Diabetes Type 2 diabetes N/A N/A GWAS
Mental Depression Major depressive disorder N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Brain Neoplasms Associate 12588862
Migraine Disorders Associate 34273149
Neoplasms Inhibit 12588862, 37992172
Osteosarcoma Associate 37992172