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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
  • Lmbt-Like 2 Isoform 1 3
  • Lmbt-Like 2 Isoform 2 3
  • 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 Metabolism of proteins and SUMOylation. 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

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

Genomics for L3MBTL2 Gene

Regulatory Elements for L3MBTL2 Gene

Enhancers for L3MBTL2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH22F041280 0.5 ENCODE 11.5 +75.1 75067 0.2 RANGAP1 ZC3H7B ENSG00000232754 L3MBTL2 RNU6-375P CSDC2 GC22M041295 MIR6889
GH22F041497 0.6 ENCODE 4.6 +294.2 294230 4.2 CTCF ZNF654 MAFG RAD21 ZNF121 ZNF316 MAFF SMC3 PRDM10 MAFK ACO2 PHF5A CSDC2 ENSG00000227370 L3MBTL2 POLR3H PIR44656 GC22M041487
GH22F040496 1.3 Ensembl ENCODE 4.6 -706.4 -706393 3.9 PKNOX1 ATF1 MLX ARID4B SIN3A ZNF48 CBX5 FOS SP5 NFYC LOC101927257 MKL1 L3MBTL2 ENSG00000227413
GH22F041204 0.2 ENCODE 0.8 +0.4 351 1.8 HDGF PKNOX1 CREB3L1 WRNIP1 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 FAM109B PMM1 L3MBTL2 PIR43461
GH22F041200 0.5 ENCODE 0.8 -3.9 -3887 1.1 HDGF CTCF ESRRA ARID4B ZNF2 RAD21 ZNF48 RELA TEAD3 HIC1 XPNPEP3 RNU6-375P ST13 ENSG00000235513 RANGAP1 EP300-AS1 L3MBTL2
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around L3MBTL2 on UCSC Golden Path with GeneCards custom track

Promoters for L3MBTL2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001532914 296 1400 HDGF PKNOX1 CREB3L1 WRNIP1 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9

Genomic Location for L3MBTL2 Gene

Chromosome:
22
Start:
41,205,205 bp from pter
End:
41,231,272 bp from pter
Size:
26,068 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

Antibody Products

  • Abcam antibodies for L3MBTL2
  • Santa Cruz Biotechnology (SCBT) Antibodies for L3MBTL2

No data available for DME Specific Peptides for L3MBTL2 Gene

Domains & Families for L3MBTL2 Gene

Gene Families for L3MBTL2 Gene

Protein Domains for L3MBTL2 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for L3MBTL2 Gene

Graphical View of Domain Structure for InterPro Entry

Q969R5

UniProtKB/Swiss-Prot:

LMBL2_HUMAN :
  • Contains 1 FCS-type zinc finger.
Similarity:
  • Contains 1 FCS-type zinc finger.
  • Contains 4 MBT repeats.
genes like me logo Genes that share domains with L3MBTL2: view

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.

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 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

Inhibitory RNA Products

Clone Products

Flow Cytometry 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
Jensen Localization Image for L3MBTL2 Gene COMPARTMENTS Subcellular localization image for L3MBTL2 gene
Compartment Confidence
nucleus 5
cytosol 2
extracellular 1
mitochondrion 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for L3MBTL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IDA --
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:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0016569 covalent chromatin modification IEA --
GO:0016925 protein sumoylation TAS --
genes like me logo Genes that share ontologies with L3MBTL2: view

No data available for SIGNOR curated interactions for L3MBTL2 Gene

Transcripts for L3MBTL2 Gene

mRNA/cDNA for L3MBTL2 Gene

Unigene Clusters for L3MBTL2 Gene

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

Inhibitory RNA Products

Clone Products

Flow Cytometry 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 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, PaxDb, 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
genes like me logo Genes that share expression patterns with L3MBTL2: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt 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 35
  • 99.67 (n)
dog
(Canis familiaris)
Mammalia L3MBTL2 34 35
  • 91.44 (n)
cow
(Bos Taurus)
Mammalia L3MBTL2 34 35
  • 89.98 (n)
rat
(Rattus norvegicus)
Mammalia L3mbtl2 34
  • 87.75 (n)
mouse
(Mus musculus)
Mammalia L3mbtl2 34 16 35
  • 87.39 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia L3MBTL2 35
  • 81 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia L3MBTL2 35
  • 61 (a)
OneToOne
chicken
(Gallus gallus)
Aves L3MBTL2 34 35
  • 78.02 (n)
lizard
(Anolis carolinensis)
Reptilia L3MBTL2 35
  • 68 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100490882 34
  • 67.07 (n)
zebrafish
(Danio rerio)
Actinopterygii l3mbtl2 34 35
  • 59.99 (n)
wufb04e09 34
fruit fly
(Drosophila melanogaster)
Insecta CG16975 36
  • 49 (a)
Sfmbt 35
  • 22 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea lin-61 34
  • 45.21 (n)
rls-1 36
  • 28 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 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)

Paralogs for L3MBTL2 Gene

Paralogs for L3MBTL2 Gene

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 Sequence Context AA Info Type
rs10553071 -- 41,212,397(+) CAGGC(-/TT)TTTTT intron-variant, upstream-variant-2KB
rs111307918 -- 41,218,246(+) AGTGG(C/T)TTACC intron-variant
rs111312420 -- 41,230,236(+) AAGCA(A/G)GAAAC intron-variant, nc-transcript-variant, reference, synonymous-codon
rs111545901 -- 41,215,732(+) TGTGG(A/G)CCCTC intron-variant
rs111756002 -- 41,230,568(+) TCCCC(C/G/T)CGACC intron-variant, nc-transcript-variant, utr-variant-3-prime

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)

Relevant External Links 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

Relevant External Links for L3MBTL2

Genetic Association Database (GAD)
L3MBTL2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 Lett. 2001) 2 3 4 64
  2. Histone deacetylase 3 is selectively involved in L3MBTL2-mediated transcriptional repression. (PMID: 20385135) Yoo J.Y. … Yoon H.G. (FEBS Lett. 2010) 3 22 64
  3. Methylation-state-specific recognition of histones by the MBT repeat protein L3MBTL2. (PMID: 19233876) Guo Y. … Min J. (Nucleic Acids Res. 2009) 3 4 64
  4. Solution structure of the FCS zinc finger domain of the human polycomb group protein L(3)mbt-like 2. (PMID: 19241375) Lechtenberg B.C. … Bycroft M. (Protein Sci. 2009) 3 4 64
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64

Products for L3MBTL2 Gene

Sources for L3MBTL2 Gene

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