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L3MBTL2 (L3MBTL histone methyl-lysine binding protein 2)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
83746
Gene nameGene Name - the full gene name approved by the HGNC.
L3MBTL histone methyl-lysine binding protein 2
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
L3MBTL2
SynonymsGene synonyms aliases
H-l(3)mbt-l, L3MBT
ChromosomeChromosome number
22
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
22q13.2
miRNAmiRNA 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 21873635
GO:0005515 Function Protein binding IPI 16189514, 20385135, 24981860, 25416956, 25609649, 26871637, 27705803, 32296183
GO:0005634 Component Nucleus IBA 21873635
GO:0005634 Component Nucleus IDA
GO:0005654 Component Nucleoplasm TAS
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
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
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
 
KEGG
 
Reactome
  Polycomb repressive complex   SUMOylation of chromatin organization proteins
Transcriptional Regulation by E2F6
Associated diseases
Causal
Disease name Disease term dbSNP ID References
Breast carcinoma Breast Carcinoma rs80359671, rs11540652, rs28934575, rs28897672, rs137886232, rs193922376, rs80357783, rs80359306, rs80359405, rs80359507, rs80359598, rs80358429, rs397507683, rs397515636, rs80359451, rs397507859, rs80359709, rs80359742, rs80359205, rs80357627, rs80357004, rs80357571, rs80357767, rs80357653, rs80358086, rs80357608, rs28897696, rs41293465, rs146650273, rs63751017, rs63750617, rs63750726, rs63750199, rs63749848, rs398122618, rs398122653, rs397509211, rs80357791, rs121912666, rs587778541, rs121908698, rs536907995, rs587781302, rs140342925, rs587781506, rs587782652, rs587782849, rs587783057, rs10520699, rs11852999, rs139770721, rs374950566, rs786202800, rs863224451, rs377153250, rs747727055, rs876658804, rs780001540, rs760815829, rs878854926, rs775248597, rs886040658, rs886040192, rs786203523, rs886040319, rs397508006, rs587782011, rs1060502772, rs1555461727, rs1553333072, rs1114167702, rs1257401983, rs886040950, rs1060502759, rs774684620, rs142947311, rs1555580883, rs748513310, rs376170600, rs863224499, rs1593909229, rs748453607, rs1294578913, rs1574737047, rs1593909960, rs2081922847, rs2082559544, rs2053694038 29059683
Medulloblastoma Medulloblastoma, Childhood Medulloblastoma, Adult Medulloblastoma, Desmoplastic Medulloblastoma, Melanotic medulloblastoma rs1589970134, rs587776578, rs587776579, rs17847577, rs111033171, rs80359604, rs80358785, rs80358814, rs863224925, rs1555950011, rs1554231278, rs926177767, rs759412460, rs1564032829, rs761911009 19270706
Unknown
Disease name Disease term dbSNP ID References
Medullomyoblastoma Medullomyoblastoma 19270706
Mental depression Major Depressive Disorder rs587778876, rs587778877 27479909, 29700475

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