L3MBTL2 (L3MBTL histone methyl-lysine binding protein 2)
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Gene
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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83746 |
Gene nameGene Name - the full gene name approved by the HGNC.
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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.
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L3MBTL2 |
SynonymsGene synonyms aliases
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H-l(3)mbt-l, L3MBT |
ChromosomeChromosome number
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22 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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22q13.2 |
miRNAmiRNA information provided by mirtarbase database.
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Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
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Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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Protein
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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
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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 |
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Sequence |
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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.
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Associated diseases
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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 |
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