Human Gene L3MBTL2 (ENST00000216237.10_5) from GENCODE V47lift37
  Description: L3MBTL histone methyl-lysine binding protein 2 (from RefSeq NM_031488.5)
Gencode Transcript: ENST00000216237.10_5
Gencode Gene: ENSG00000100395.15_8
Transcript (Including UTRs)
   Position: hg19 chr22:41,601,316-41,627,275 Size: 25,960 Total Exon Count: 17 Strand: +
Coding Region
   Position: hg19 chr22:41,601,367-41,626,255 Size: 24,889 Coding Exon Count: 17 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr22:41,601,316-41,627,275)mRNA (may differ from genome)Protein (705 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
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HGNCMGIOMIMPubMedReactomeUniProtKB
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-  Comments and Description Text from UniProtKB
  ID: LMBL2_HUMAN
DESCRIPTION: RecName: Full=Lethal(3)malignant brain tumor-like protein 2; Short=H-l(3)mbt-like protein 2; Short=L(3)mbt-like protein 2;
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'.
SUBUNIT: 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.
SUBCELLULAR LOCATION: Nucleus (Probable).
SIMILARITY: Contains 1 FCS-type zinc finger.
SIMILARITY: Contains 4 MBT repeats.
SEQUENCE CAUTION: Sequence=BAB84917.1; Type=Miscellaneous discrepancy; Note=Intron retention; Sequence=BAC04936.1; Type=Miscellaneous discrepancy; Note=Intron retention;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 17.48 RPKM in Pituitary
Total median expression: 530.75 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -13.7051-0.269 Picture PostScript Text
3' UTR -372.601020-0.365 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR004092 - Mbt
IPR012313 - Znf_FCS

Pfam Domains:
PF02820 - mbt repeat

SCOP Domains:
54160 - Chromo domain-like
63748 - Tudor/PWWP/MBT

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2W0T - NMR MuPIT 3CEY - X-ray MuPIT 3F70 - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q969R5
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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 RGDEnsembl   
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0008270 zinc ion binding
GO:0035064 methylated histone binding
GO:0042393 histone binding
GO:0046872 metal ion binding

Biological Process:
GO:0006325 chromatin organization
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0070317 negative regulation of G0 to G1 transition

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm


-  Descriptions from all associated GenBank mRNAs
  AK097052 - Homo sapiens cDNA FLJ39733 fis, clone SMINT2016122.
AL136564 - Homo sapiens mRNA; cDNA DKFZp761I141 (from clone DKFZp761I141).
AK056443 - Homo sapiens cDNA FLJ31881 fis, clone NT2RP7002829, highly similar to Lethal(3)malignant brain tumor-like 2 protein.
AK307763 - Homo sapiens cDNA, FLJ97711.
BC017191 - Homo sapiens l(3)mbt-like 2 (Drosophila), mRNA (cDNA clone MGC:2476 IMAGE:3138444), complete cds.
AK074091 - Homo sapiens mRNA for FLJ00162 protein.
AJ305226 - Homo sapiens mRNA for H-l(3)mbt-like protein, alternative variant a.
AJ305227 - Homo sapiens mRNA for H-l(3)mbt-like protein, alternative variant b.
JD141123 - Sequence 122147 from Patent EP1572962.
JD201719 - Sequence 182743 from Patent EP1572962.
CR456482 - Homo sapiens dJ756G23.3 full length open reading frame (ORF) cDNA clone (cDNA clone C22ORF:pGEM.dJ756G23.3.V3).
JD037431 - Sequence 18455 from Patent EP1572962.
KJ899718 - Synthetic construct Homo sapiens clone ccsbBroadEn_09112 L3MBTL2 gene, encodes complete protein.
CU677853 - Synthetic construct Homo sapiens gateway clone IMAGE:100018423 5' read L3MBTL2 mRNA.
AB463092 - Synthetic construct DNA, clone: pF1KF0162, Homo sapiens L3MBTL2 gene for l(3)mbt-like 2, without stop codon, in Flexi system.
AM392807 - Synthetic construct Homo sapiens clone IMAGE:100002432 for hypothetical protein (L3MBTL2 gene).
AM393641 - Synthetic construct Homo sapiens clone IMAGE:100002433 for hypothetical protein (L3MBTL2 gene).
CU013320 - Homo sapiens L3MBTL2, mRNA (cDNA clone IMAGE:100000194), complete cds, without stop codon, in Gateway system.
DQ892312 - Synthetic construct clone IMAGE:100004942; FLH185127.01X; RZPDo839F07146D l(3)mbt-like 2 (Drosophila) (L3MBTL2) gene, encodes complete protein.
DQ895512 - Synthetic construct Homo sapiens clone IMAGE:100009972; FLH185123.01L; RZPDo839F07145D l(3)mbt-like 2 (Drosophila) (L3MBTL2) gene, encodes complete protein.
CU013032 - Homo sapiens L3MBTL2, mRNA (cDNA clone IMAGE:100000290), complete cds, with stop codon, in Gateway system.
KU178799 - Homo sapiens lmbt-like 2 (Drosophila) isoform 1 (L3MBTL2) mRNA, partial cds.
KU178800 - Homo sapiens lmbt-like 2 (Drosophila) isoform 2 (L3MBTL2) mRNA, complete cds, alternatively spliced.
JD457978 - Sequence 439002 from Patent EP1572962.
DQ582350 - Homo sapiens piRNA piR-32462, complete sequence.
JD446905 - Sequence 427929 from Patent EP1572962.
JD489667 - Sequence 470691 from Patent EP1572962.
DQ576322 - Homo sapiens piRNA piR-44434, complete sequence.
JD203234 - Sequence 184258 from Patent EP1572962.
JD056695 - Sequence 37719 from Patent EP1572962.
JD137922 - Sequence 118946 from Patent EP1572962.
JD174646 - Sequence 155670 from Patent EP1572962.
JD195380 - Sequence 176404 from Patent EP1572962.
JD480030 - Sequence 461054 from Patent EP1572962.
JD544538 - Sequence 525562 from Patent EP1572962.
JD255656 - Sequence 236680 from Patent EP1572962.
JD416148 - Sequence 397172 from Patent EP1572962.
JD508751 - Sequence 489775 from Patent EP1572962.
JD126838 - Sequence 107862 from Patent EP1572962.
JD491816 - Sequence 472840 from Patent EP1572962.
JD561775 - Sequence 542799 from Patent EP1572962.
DQ577920 - Homo sapiens piRNA piR-46032, complete sequence.
JD359949 - Sequence 340973 from Patent EP1572962.
JD186083 - Sequence 167107 from Patent EP1572962.
JD187492 - Sequence 168516 from Patent EP1572962.
JD208096 - Sequence 189120 from Patent EP1572962.
JD120235 - Sequence 101259 from Patent EP1572962.
JD555326 - Sequence 536350 from Patent EP1572962.
JD073762 - Sequence 54786 from Patent EP1572962.
JD565598 - Sequence 546622 from Patent EP1572962.
JD261173 - Sequence 242197 from Patent EP1572962.
JD284190 - Sequence 265214 from Patent EP1572962.
JD194151 - Sequence 175175 from Patent EP1572962.
JD071746 - Sequence 52770 from Patent EP1572962.
JD413871 - Sequence 394895 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q969R5 (Reactome details) participates in the following event(s):

R-HSA-6804485 PIAS1 SUMOylates L3MBTL2 with SUMO2
R-HSA-9007447 E2F6 forms the PRC1L4 complex
R-HSA-9007283 CBX3 and PRC1.6 associate with E2F6.com-1
R-HSA-9007464 The PRC1L4 complex binds the UXT gene promoter
R-HSA-9007467 The PRC1L4 complex binds the CDC7 gene promoter
R-HSA-8953452 E2F6.com-1 complex binds the E2F1 gene promoter
R-HSA-4551638 SUMOylation of chromatin organization proteins
R-HSA-8953750 Transcriptional Regulation by E2F6
R-HSA-3108232 SUMO E3 ligases SUMOylate target proteins
R-HSA-212436 Generic Transcription Pathway
R-HSA-2990846 SUMOylation
R-HSA-73857 RNA Polymerase II Transcription
R-HSA-597592 Post-translational protein modification
R-HSA-74160 Gene expression (Transcription)
R-HSA-392499 Metabolism of proteins

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000216237.1, ENST00000216237.2, ENST00000216237.3, ENST00000216237.4, ENST00000216237.5, ENST00000216237.6, ENST00000216237.7, ENST00000216237.8, ENST00000216237.9, LMBL2_HUMAN, NM_031488, Q8TEN1, Q969R5, Q96SC4, Q9BQI2, Q9UGS4, uc317cpk.1, uc317cpk.2
UCSC ID: ENST00000216237.10_5
RefSeq Accession: NM_031488.5
Protein: Q969R5 (aka LMBL2_HUMAN or LML2_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.