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Aliases for L3MBTL2 Gene

Aliases for L3MBTL2 Gene

  • L3MBTL2, Polycomb Repressive Complex 1 Subunit 2 3 5
  • H-L(3)Mbt-Like Protein 2 3 4
  • L(3)Mbt-Like Protein 2 3 4
  • Lethal(3)Malignant Brain Tumor-Like Protein 2 3
  • L(3)Mbt-Like 2 (Drosophila) 2
  • L(3)Mbt-Like 2 3
  • H-L(3)Mbt-L 3
  • L3MBT 3

External Ids for L3MBTL2 Gene

Previous GeneCards Identifiers for L3MBTL2 Gene

  • GC22P038215
  • GC22P039844
  • GC22P039925
  • GC22P041601
  • GC22P024565

Summaries for L3MBTL2 Gene

GeneCards Summary for L3MBTL2 Gene

L3MBTL2 (L3MBTL2, Polycomb Repressive Complex 1 Subunit) is a Protein Coding gene. Among its related pathways are SUMOylation and Metabolism of proteins. Gene Ontology (GO) annotations related to this gene include histone binding and methylated histone binding. An important paralog of this gene is MBTD1.

UniProtKB/Swiss-Prot for L3MBTL2 Gene

  • 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-remodeling complex suggests that it may contribute to prevent expression of genes that trigger the cell into mitosis. Binds to monomethylated and dimethylated Lys-20 on histone H4. Binds histone H3 peptides that are monomethylated or dimethylated on Lys-4, Lys-9 or Lys-27.

Gene Wiki entry for L3MBTL2 Gene

Additional gene information for L3MBTL2 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for L3MBTL2 Gene

Genomics for L3MBTL2 Gene

GeneHancer (GH) Regulatory Elements for L3MBTL2 Gene

Promoters and enhancers for L3MBTL2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH22J041204 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 650.7 +0.4 351 1.8 HDGF PKNOX1 SMAD1 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 POLR2B L3MBTL2 EP300 ENSG00000272834 ENSG00000232754 XRCC6 ENSG00000227413 NAGA EP300-AS1 RPL4P6 MKL1
GH22J041443 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 74.7 +241.5 241511 5.9 MLX ZFP64 FEZF1 DMAP1 YBX1 IRF4 YY1 SLC30A9 ZNF213 ZNF143 ACO2 TOB2 LOC105373043 L3MBTL2 EP300 PHF5A ZC3H7B SLC25A17 XRCC6 ENSG00000232754
GH22J041284 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 22.8 +83.1 83116 8.1 FEZF1 DMAP1 YY1 SLC30A9 E2F8 ZNF143 SP3 NFYC SSRP1 ZNF610 RANGAP1 EP300 XRCC6 ENSG00000272834 EP300-AS1 ENSG00000232754 ENSG00000227413 L3MBTL2 NAGA ZC3H7B
GH22J041090 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 25.4 -112.3 -112339 4.7 HDGF FOXA2 SMAD1 MLX ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 EP300 MIR1281 PHF5A ENSG00000272834 L3MBTL2 XRCC6 ENSG00000235513 EP300-AS1 ENSG00000232754 ENSG00000227413
GH22J040709 Enhancer 1.8 FANTOM5 Ensembl ENCODE dbSUPER 21.9 -493.0 -493032 6.3 MLX FEZF1 YY1 ZNF213 ZNF416 SP3 MEF2D ZNF610 GLIS1 RCOR2 EP300 PHF5A XRCC6 SLC25A17 L3MBTL2 DNAJB7 HMGN2P10 SNU13 ZC3H7B ENSG00000235513
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around L3MBTL2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the L3MBTL2 gene promoter:
  • c-Ets-1
  • E2F-1
  • E2F
  • HTF
  • AML1a
  • SRF (504 AA)
  • SRF
  • Max1
  • Pax-6

Genomic Locations for L3MBTL2 Gene

Genomic Locations for L3MBTL2 Gene
chr22:41,205,205-41,231,272
(GRCh38/hg38)
Size:
26,068 bases
Orientation:
Plus strand
chr22:41,601,209-41,627,275
(GRCh37/hg19)
Size:
26,067 bases
Orientation:
Plus strand

Genomic View for L3MBTL2 Gene

Genes around L3MBTL2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
L3MBTL2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for L3MBTL2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for L3MBTL2 Gene

Proteins for L3MBTL2 Gene

  • Protein details for L3MBTL2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q969R5-LMBL2_HUMAN
    Recommended name:
    Lethal(3)malignant brain tumor-like protein 2
    Protein Accession:
    Q969R5
    Secondary Accessions:
    • Q8TEN1
    • Q96SC4
    • Q9BQI2
    • Q9UGS4

    Protein attributes for L3MBTL2 Gene

    Size:
    705 amino acids
    Molecular mass:
    79110 Da
    Quaternary structure:
    • Part of the E2F6.com-1 complex in G0 phase composed of E2F6, MGA, MAX, TFDP1, CBX3, BAT8, EUHMTASE1, RING1, RNF2, MBLR, BAT8 and YAF2.
    SequenceCaution:
    • Sequence=BAB84917.1; Type=Miscellaneous discrepancy; Note=Intron retention.; Evidence={ECO:0000305}; Sequence=BAC04936.1; Type=Miscellaneous discrepancy; Note=Intron retention.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for L3MBTL2 Gene

    Alternative splice isoforms for L3MBTL2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for L3MBTL2 Gene

Post-translational modifications for L3MBTL2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for L3MBTL2 Gene

Domains & Families for L3MBTL2 Gene

Gene Families for L3MBTL2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted secreted proteins

Protein Domains for L3MBTL2 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for L3MBTL2 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with L3MBTL2: view

No data available for UniProtKB/Swiss-Prot for L3MBTL2 Gene

Function for L3MBTL2 Gene

Molecular function for L3MBTL2 Gene

UniProtKB/Swiss-Prot 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-remodeling complex suggests that it may contribute to prevent expression of genes that trigger the cell into mitosis. Binds to monomethylated and dimethylated Lys-20 on histone H4. Binds histone H3 peptides that are monomethylated or dimethylated on Lys-4, Lys-9 or Lys-27.

Phenotypes From GWAS Catalog for L3MBTL2 Gene

Gene Ontology (GO) - Molecular Function for L3MBTL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 16189514
GO:0008270 zinc ion binding IEA --
GO:0035064 methylated histone binding IEA,IDA 19233876
GO:0042393 histone binding IPI 17540172
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with L3MBTL2: view
genes like me logo Genes that share phenotypes with L3MBTL2: view

Animal Models for L3MBTL2 Gene

MGI Knock Outs for L3MBTL2:

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for L3MBTL2 Gene

Localization for L3MBTL2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for L3MBTL2 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for L3MBTL2 gene
Compartment Confidence
nucleus 5
cytosol 2
plasma membrane 1
extracellular 1
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for L3MBTL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA,IEA --
GO:0005654 nucleoplasm TAS --
genes like me logo Genes that share ontologies with L3MBTL2: view

Pathways & Interactions for L3MBTL2 Gene

genes like me logo Genes that share pathways with L3MBTL2: view

Gene Ontology (GO) - Biological Process for L3MBTL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006325 chromatin organization IEA --
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0016925 protein sumoylation TAS --
GO:0070317 negative regulation of G0 to G1 transition TAS --
genes like me logo Genes that share ontologies with L3MBTL2: view

No data available for SIGNOR curated interactions for L3MBTL2 Gene

Drugs & Compounds for L3MBTL2 Gene

No Compound Related Data Available

Transcripts for L3MBTL2 Gene

Unigene Clusters for L3MBTL2 Gene

L(3)mbt-like 2 (Drosophila):
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for L3MBTL2 Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2 ^ 3 ^ 4a · 4b · 4c ^ 5a · 5b ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16a · 16b ^
SP1: - - - - -
SP2: - - - - -
SP3: - - - -
SP4: - - - - - -
SP5: - - - -
SP6: -
SP7: -
SP8:

ExUns: 17a · 17b
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:

Relevant External Links for L3MBTL2 Gene

GeneLoc Exon Structure for
L3MBTL2
ECgene alternative splicing isoforms for
L3MBTL2

Expression for L3MBTL2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for L3MBTL2 Gene

Protein differential expression in normal tissues from HIPED for L3MBTL2 Gene

This gene is overexpressed in Adipocyte (39.8) and Heart (21.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for L3MBTL2 Gene



Protein tissue co-expression partners for L3MBTL2 Gene

NURSA nuclear receptor signaling pathways regulating expression of L3MBTL2 Gene:

L3MBTL2

SOURCE GeneReport for Unigene cluster for L3MBTL2 Gene:

Hs.517641

Evidence on tissue expression from TISSUES for L3MBTL2 Gene

  • Nervous system(4.5)
  • Intestine(4.2)
  • Spleen(4.2)
genes like me logo Genes that share expression patterns with L3MBTL2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for L3MBTL2 Gene

Orthologs for L3MBTL2 Gene

This gene was present in the common ancestor of animals.

Orthologs for L3MBTL2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia L3MBTL2 34 33
  • 99.67 (n)
OneToOne
dog
(Canis familiaris)
Mammalia L3MBTL2 34 33
  • 91.44 (n)
OneToOne
cow
(Bos Taurus)
Mammalia L3MBTL2 34 33
  • 89.98 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia L3mbtl2 33
  • 87.75 (n)
mouse
(Mus musculus)
Mammalia L3mbtl2 16 34 33
  • 87.39 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia L3MBTL2 34
  • 81 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia L3MBTL2 34
  • 61 (a)
OneToOne
chicken
(Gallus gallus)
Aves L3MBTL2 34 33
  • 78.02 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia L3MBTL2 34
  • 68 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100490882 33
  • 67.07 (n)
zebrafish
(Danio rerio)
Actinopterygii l3mbtl2 34 33
  • 59.99 (n)
OneToOne
wufb04e09 33
fruit fly
(Drosophila melanogaster)
Insecta CG16975 35
  • 49 (a)
Sfmbt 34
  • 22 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea lin-61 33
  • 45.21 (n)
rls-1 35
  • 28 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 53 (a)
OneToMany
Species where no ortholog for L3MBTL2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for L3MBTL2 Gene

ENSEMBL:
Gene Tree for L3MBTL2 (if available)
TreeFam:
Gene Tree for L3MBTL2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for L3MBTL2: view image

Paralogs for L3MBTL2 Gene

Paralogs for L3MBTL2 Gene

(23) SIMAP similar genes for L3MBTL2 Gene using alignment to 4 proteins:

  • LMBL2_HUMAN
  • F8WBL1_HUMAN
  • H0Y5M2_HUMAN
  • H7C228_HUMAN
genes like me logo Genes that share paralogs with L3MBTL2: view

Variants for L3MBTL2 Gene

Sequence variations from dbSNP and Humsavar for L3MBTL2 Gene

SNP ID Clin Chr 22 pos Variation AA Info Type
rs1000360076 -- 41,215,347(+) G/A intron_variant
rs1000424836 -- 41,228,020(+) T/C intron_variant
rs1000514676 -- 41,227,947(+) T/G intron_variant
rs1000560308 -- 41,213,643(+) C/T genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000589268 -- 41,205,154(+) T/G upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for L3MBTL2 Gene

Variant ID Type Subtype PubMed ID
esv3575480 CNV gain 25503493
esv3647791 CNV loss 21293372
esv3647792 CNV gain 21293372
esv3647793 CNV loss 21293372
nsv524585 CNV loss 19592680
nsv589049 CNV gain 21841781

Variation tolerance for L3MBTL2 Gene

Residual Variation Intolerance Score: 9.99% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.62; 56.58% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for L3MBTL2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
L3MBTL2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for L3MBTL2 Gene

Disorders for L3MBTL2 Gene

Additional Disease Information for L3MBTL2

No disorders were found for L3MBTL2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for L3MBTL2 Gene

Publications for L3MBTL2 Gene

  1. Molecular characterization of h-l(3)mbt-like: a new member of the human mbt family. (PMID: 11682070) Wismar J (FEBS letters 2001) 2 3 4 58
  2. L3MBTL2 protein acts in concert with PcG protein-mediated monoubiquitination of H2A to establish a repressive chromatin structure. (PMID: 21596310) Trojer P … Reinberg D (Molecular cell 2011) 2 3 58
  3. Histone deacetylase 3 is selectively involved in L3MBTL2-mediated transcriptional repression. (PMID: 20385135) Yoo JY … Yoon HG (FEBS letters 2010) 3 22 58
  4. Solution structure of the FCS zinc finger domain of the human polycomb group protein L(3)mbt-like 2. (PMID: 19241375) Lechtenberg BC … Bycroft M (Protein science : a publication of the Protein Society 2009) 3 4 58
  5. Methylation-state-specific recognition of histones by the MBT repeat protein L3MBTL2. (PMID: 19233876) Guo Y … Min J (Nucleic acids research 2009) 3 4 58

Products for L3MBTL2 Gene

Sources for L3MBTL2 Gene

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