Aliases for L3MBTL4 Gene

Aliases for L3MBTL4 Gene

  • L3MBTL Histone Methyl-Lysine Binding Protein 4 2 3 5
  • L3MBTL4, Histone Methyl-Lysine Binding Protein 2 3
  • Lethal(3)Malignant Brain Tumor-Like Protein 4 3 4
  • H-L(3)Mbt-Like Protein 4 3 4
  • HsT1031 2 3
  • L(3)Mbt-Like 4 (Drosophila) 2
  • L(3)Mbt-Like Protein 4 4
  • L3mbt-Like 4 4
  • FLJ35936 2
  • L3MBTL4 5

External Ids for L3MBTL4 Gene

Previous GeneCards Identifiers for L3MBTL4 Gene

  • GC18M005945
  • GC18M005946

Summaries for L3MBTL4 Gene

GeneCards Summary for L3MBTL4 Gene

L3MBTL4 (L3MBTL Histone Methyl-Lysine Binding Protein 4) is a Protein Coding gene. Diseases associated with L3MBTL4 include Chromosome 18P Deletion Syndrome and N Syndrome. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity. An important paralog of this gene is L3MBTL3.

UniProtKB/Swiss-Prot Summary for L3MBTL4 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 (By similarity).

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for L3MBTL4 Gene

Genomics for L3MBTL4 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for L3MBTL4 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
GH18J006413 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 607.2 +0.8 782 2.2 HNRNPL PRDM10 ZNF692 BACH1 LARP7 ZNF143 RELA ZIC2 RBFOX2 PATZ1 L3MBTL4 lnc-TMEM200C-2 TMEM200C
GH18J006416 Enhancer 0.2 FANTOM5 604.5 -1.8 -1761 0.2 L3MBTL4 piR-48209-309 ARHGAP28
GH18J006371 Enhancer 1.1 Ensembl ENCODE 17.5 +44.3 44259 1.2 HNRNPL GATAD2A PRDM10 REST ZNF692 RCOR2 ZNF174 ZIC2 RXRB PATZ1 L3MBTL4 MIR4317 lnc-TMEM200C-1 lnc-TMEM200C-2 TMEM200C
GH18J006406 Enhancer 1.3 FANTOM5 Ensembl ENCODE CraniofacialAtlas 13.5 +9.0 8958 2.2 GATAD2A SOX13 RXRB SP1 CEBPA TCF7 CEBPB ZNF316 ZSCAN5C FOXA2 L3MBTL4 ENSG00000279885 lnc-TMEM200C-2 TMEM200C
GH18J006366 Enhancer 0.7 Ensembl ENCODE 16.4 +48.6 48558 3 ZIC2 OSR2 YY1 ZNF423 ZNF335 PRDM4 ZNF18 FEZF1 PRDM6 GLIS1 lnc-TMEM200C-1 L3MBTL4 lnc-TMEM200C-2 lnc-ARHGAP28-11 TMEM200C
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around L3MBTL4 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for L3MBTL4

Top Transcription factor binding sites by QIAGEN in the L3MBTL4 gene promoter:
  • AREB6
  • CUTL1
  • FOXF2
  • FOXO4
  • IRF-7A
  • MyoD
  • POU2F1
  • POU2F1a
  • S8

Genomic Locations for L3MBTL4 Gene

Genomic Locations for L3MBTL4 Gene
chr18:5,954,703-6,415,259
(GRCh38/hg38)
Size:
460,557 bases
Orientation:
Minus strand
chr18:5,954,705-6,415,236
(GRCh37/hg19)
Size:
460,532 bases
Orientation:
Minus strand

Genomic View for L3MBTL4 Gene

Genes around L3MBTL4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
L3MBTL4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for L3MBTL4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for L3MBTL4 Gene

Proteins for L3MBTL4 Gene

  • Protein details for L3MBTL4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8NA19-LMBL4_HUMAN
    Recommended name:
    Lethal(3)malignant brain tumor-like protein 4
    Protein Accession:
    Q8NA19
    Secondary Accessions:
    • A8MTL8
    • Q8IXS3

    Protein attributes for L3MBTL4 Gene

    Size:
    623 amino acids
    Molecular mass:
    71122 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for L3MBTL4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for L3MBTL4 Gene

Post-translational modifications for L3MBTL4 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for L3MBTL4 Gene

Domains & Families for L3MBTL4 Gene

Protein Domains for L3MBTL4 Gene

InterPro:
Blocks:
  • Sterile alpha motif SAM
ProtoNet:

Suggested Antigen Peptide Sequences for L3MBTL4 Gene

GenScript: Design optimal peptide antigens:
  • Lethal(3)malignant brain tumor-like protein 4 (LMBL4_HUMAN)
genes like me logo Genes that share domains with L3MBTL4: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for L3MBTL4 Gene

Function for L3MBTL4 Gene

Molecular function for L3MBTL4 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 (By similarity).

Phenotypes From GWAS Catalog for L3MBTL4 Gene

Gene Ontology (GO) - Molecular Function for L3MBTL4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003682 chromatin binding IBA 21873635
GO:0003700 DNA-binding transcription factor activity IEA --
GO:0005515 protein binding IPI 25416956
GO:0008270 zinc ion binding IEA --
GO:0042393 histone binding IBA 21873635
genes like me logo Genes that share ontologies with L3MBTL4: view
genes like me logo Genes that share phenotypes with L3MBTL4: view

Animal Model Products

CRISPR Products

miRNA for L3MBTL4 Gene

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for L3MBTL4

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for L3MBTL4 Gene

Localization for L3MBTL4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for L3MBTL4 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 L3MBTL4 gene
Compartment Confidence
nucleus 4
cytosol 2
plasma membrane 1
extracellular 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for L3MBTL4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IBA 21873635
genes like me logo Genes that share ontologies with L3MBTL4: view

Pathways & Interactions for L3MBTL4 Gene

PathCards logo

SuperPathways for L3MBTL4 Gene

No Data Available

Gene Ontology (GO) - Biological Process for L3MBTL4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006325 chromatin organization IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0045892 negative regulation of transcription, DNA-templated IBA 21873635
genes like me logo Genes that share ontologies with L3MBTL4: view

No data available for Pathways by source and SIGNOR curated interactions for L3MBTL4 Gene

Drugs & Compounds for L3MBTL4 Gene

No Compound Related Data Available

Transcripts for L3MBTL4 Gene

mRNA/cDNA for L3MBTL4 Gene

8 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for L3MBTL4

Alternative Splicing Database (ASD) splice patterns (SP) for L3MBTL4 Gene

No ASD Table

Relevant External Links for L3MBTL4 Gene

GeneLoc Exon Structure for
L3MBTL4

Expression for L3MBTL4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for L3MBTL4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for L3MBTL4

SOURCE GeneReport for Unigene cluster for L3MBTL4 Gene:

Hs.128279
genes like me logo Genes that share expression patterns with L3MBTL4: view

No data available for mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for L3MBTL4 Gene

Orthologs for L3MBTL4 Gene

This gene was present in the common ancestor of animals.

Orthologs for L3MBTL4 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia L3MBTL4 30 31
  • 99.41 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia L3MBTL4 30 31
  • 89.78 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia L3mbtl4 30 17 31
  • 83.44 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia L3MBTL4 31
  • 77 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia L3MBTL4 31
  • 76 (a)
OneToOne
Chicken
(Gallus gallus)
Aves -- 31
  • 34 (a)
ManyToMany
Zebrafish
(Danio rerio)
Actinopterygii L3MBTL4 31
  • 54 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006811 30
  • 49.59 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta l(3)mbt 31
  • 14 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 45 (a)
OneToMany
Species where no ortholog for L3MBTL4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • Cow (Bos Taurus)
  • 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)
  • Lizard (Anolis carolinensis)
  • 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)
  • Rat (Rattus norvegicus)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • 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)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for L3MBTL4 Gene

ENSEMBL:
Gene Tree for L3MBTL4 (if available)
TreeFam:
Gene Tree for L3MBTL4 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for L3MBTL4: view image

Paralogs for L3MBTL4 Gene

(7) SIMAP similar genes for L3MBTL4 Gene using alignment to 6 proteins:

  • LMBL4_HUMAN
  • F5H508_HUMAN
  • F8W9S8_HUMAN
  • J3KRN7_HUMAN
  • J3KS41_HUMAN
  • J3QLK8_HUMAN
genes like me logo Genes that share paralogs with L3MBTL4: view

Variants for L3MBTL4 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for L3MBTL4 Gene

SNP ID Clinical significance and condition Chr 18 pos Variation AA Info Type
rs12958879 - p.Gly489Ser
rs3737353 - p.Gly618Asp

Additional dbSNP identifiers (rs#s) for L3MBTL4 Gene

Structural Variations from Database of Genomic Variants (DGV) for L3MBTL4 Gene

Variant ID Type Subtype PubMed ID
dgv3318n100 CNV gain 25217958
esv1675053 CNV deletion 17803354
esv2585361 CNV deletion 19546169
esv2658589 CNV deletion 23128226
esv2673610 CNV deletion 23128226
esv2674522 CNV deletion 23128226
esv2678059 CNV deletion 23128226
esv27049 CNV loss 19812545
esv2716721 CNV deletion 23290073
esv2716722 CNV deletion 23290073
esv2716723 CNV deletion 23290073
esv2716724 CNV deletion 23290073
esv2716725 CNV deletion 23290073
esv2716726 CNV deletion 23290073
esv2716727 CNV deletion 23290073
esv2716728 CNV deletion 23290073
esv2716730 CNV deletion 23290073
esv2716731 CNV deletion 23290073
esv2716732 CNV deletion 23290073
esv2716733 CNV deletion 23290073
esv29099 CNV gain+loss 19812545
esv3353825 CNV insertion 20981092
esv3433465 CNV insertion 20981092
esv3573909 CNV gain 25503493
esv3641663 CNV loss 21293372
esv3641664 CNV loss 21293372
esv3641665 CNV loss 21293372
nsv1059678 CNV gain 25217958
nsv1121947 CNV deletion 24896259
nsv131635 CNV insertion 16902084
nsv131663 CNV insertion 16902084
nsv131965 CNV deletion 16902084
nsv512514 CNV loss 21212237
nsv518347 CNV loss 19592680
nsv521173 CNV gain 19592680
nsv521604 CNV loss 19592680
nsv525681 CNV loss 19592680
nsv576394 CNV loss 21841781
nsv576395 CNV loss 21841781
nsv817781 CNV loss 17921354
nsv819367 CNV gain 19587683
nsv821505 CNV deletion 20802225
nsv828169 CNV loss 20364138

Variation tolerance for L3MBTL4 Gene

Residual Variation Intolerance Score: 50% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.84; 73.94% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for L3MBTL4 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
L3MBTL4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for L3MBTL4 Gene

Disorders for L3MBTL4 Gene

MalaCards: The human disease database

(2) MalaCards diseases for L3MBTL4 Gene - From: DISEASES

Disorder Aliases PubMed IDs
chromosome 18p deletion syndrome
  • 18p- syndrome
n syndrome
  • nsx
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for L3MBTL4

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with L3MBTL4: view

No data available for UniProtKB/Swiss-Prot and Genatlas for L3MBTL4 Gene

Publications for L3MBTL4 Gene

  1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 2 3 4
  2. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 41
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41
  4. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
  5. POH1 contributes to hyperactivation of TGF-β signaling and facilitates hepatocellular carcinoma metastasis through deubiquitinating TGF-β receptors and caveolin-1. (PMID: 30745168) Wang B … Liu Y (EBioMedicine 2019) 3

Products for L3MBTL4 Gene

  • Biorbyt antibodies for L3MBTL4

Sources for L3MBTL4 Gene