Aliases for MTF2 Gene

Aliases for MTF2 Gene

  • Metal Response Element Binding Transcription Factor 2 2 3 5
  • PCL2 2 3 4
  • Metal-Response Element-Binding Transcription Factor 2 3 4
  • Metal-Response Element DNA-Binding Protein M96 3 4
  • Metal Regulatory Transcription Factor 2 3 4
  • Tudor Domain Containing 19A 2 3
  • Polycomb-Like Protein 2 3 4
  • Polycomb-Like 2 2 3
  • TDRD19A 2 3
  • HPCl2 3 4
  • M96 2 3
  • Putative DNA Binding Protein 3
  • DJ976O13.2 3
  • MTF2 5

External Ids for MTF2 Gene

Previous GeneCards Identifiers for MTF2 Gene

  • GC01P093258
  • GC01P093317
  • GC01P093544
  • GC01P091666

Summaries for MTF2 Gene

GeneCards Summary for MTF2 Gene

MTF2 (Metal Response Element Binding Transcription Factor 2) is a Protein Coding gene. Diseases associated with MTF2 include Retinitis Pigmentosa 48 and Hereditary Lymphedema. Among its related pathways are Mesodermal Commitment Pathway and Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3. Gene Ontology (GO) annotations related to this gene include methylated histone binding. An important paralog of this gene is PHF19.

UniProtKB/Swiss-Prot Summary for MTF2 Gene

  • Polycomb group (PcG) protein that specifically binds histone H3 trimethylated at 'Lys-36' (H3K36me3) and recruits the PRC2 complex, thus enhancing PRC2 H3K27me3 methylation activity (PubMed:23142980, PubMed:23228662, PubMed:31959557). Regulates the transcriptional networks during embryonic stem cell self-renewal and differentiation (By similarity). Promotes recruitment of the PRC2 complex to the inactive X chromosome in differentiating XX ES cells and PRC2 recruitment to target genes in undifferentiated ES cells (By similarity). Required to repress Hox genes by enhancing H3K27me3 methylation of the PRC2 complex (By similarity). In some conditions may act as an inhibitor of PRC2 activity: able to activate the CDKN2A gene and promote cellular senescence by suppressing the catalytic activity of the PRC2 complex locally (By similarity). Binds to the metal-regulating-element (MRE) of MT1A gene promoter (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 MTF2 Gene

Genomics for MTF2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for MTF2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MTF2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MTF2

Top Transcription factor binding sites by QIAGEN in the MTF2 gene promoter:
  • CREB
  • GCNF
  • GCNF-1
  • HSF1 (long)
  • HSF1short
  • IRF-7A
  • MZF-1
  • p300
  • Pax-4a

Genomic Locations for MTF2 Gene

Latest Assembly
chr1:93,079,235-93,139,079
(GRCh38/hg38)
Size:
59,845 bases
Orientation:
Plus strand

Previous Assembly
chr1:93,544,840-93,604,633
(GRCh37/hg19 by Entrez Gene)
Size:
59,794 bases
Orientation:
Plus strand

chr1:93,544,792-93,604,638
(GRCh37/hg19 by Ensembl)
Size:
59,847 bases
Orientation:
Plus strand

Genomic View for MTF2 Gene

Genes around MTF2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MTF2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MTF2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MTF2 Gene

Proteins for MTF2 Gene

  • Protein details for MTF2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y483-MTF2_HUMAN
    Recommended name:
    Metal-response element-binding transcription factor 2
    Protein Accession:
    Q9Y483
    Secondary Accessions:
    • A6NGQ9
    • A8K2Q3
    • B1AKT5
    • B1AKT6
    • Q96G26
    • Q9UES9
    • Q9UP40

    Protein attributes for MTF2 Gene

    Size:
    593 amino acids
    Molecular mass:
    67090 Da
    Quaternary structure:
    • Associates with the PRC2 complex, which consists of the core components EED, EZH1 or EZH2, SUZ12, and RBBP4, and various combinations of accessory subunits including AEBP2, JARID2, PHF19, MTF2 and EPOP (PubMed:31959557). Forms a dimeric PRC2.1 (class 1, PRC-PCL) complex consisting of at least SUZ12, RBBP4, and PHF19 or MTF2; PHF19 and MTF2 stabilize the dimeric structure which enhances PRC2 interaction with chromatin (PubMed:31959557).

    Three dimensional structures from OCA and Proteopedia for MTF2 Gene

    Alternative splice isoforms for MTF2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MTF2 Gene

Post-translational modifications for MTF2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MTF2 Gene

No data available for DME Specific Peptides for MTF2 Gene

Domains & Families for MTF2 Gene

Gene Families for MTF2 Gene

Protein Domains for MTF2 Gene

Suggested Antigen Peptide Sequences for MTF2 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ50106, highly similar to Metal-response element-binding transcriptionfactor 2 (B4DZG1_HUMAN)
  • Polycomb-like protein 2 (MTF2_HUMAN)
  • MTF2 protein (Q96G26_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9Y483

UniProtKB/Swiss-Prot:

MTF2_HUMAN :
  • The Tudor domain recognizes and binds H3K36me3 (PubMed:23142980, PubMed:23228662).
  • Belongs to the Polycomblike family.
Domain:
  • The Tudor domain recognizes and binds H3K36me3 (PubMed:23142980, PubMed:23228662).
Family:
  • Belongs to the Polycomblike family.
genes like me logo Genes that share domains with MTF2: view

Function for MTF2 Gene

Molecular function for MTF2 Gene

UniProtKB/Swiss-Prot Function:
Polycomb group (PcG) protein that specifically binds histone H3 trimethylated at 'Lys-36' (H3K36me3) and recruits the PRC2 complex, thus enhancing PRC2 H3K27me3 methylation activity (PubMed:23142980, PubMed:23228662, PubMed:31959557). Regulates the transcriptional networks during embryonic stem cell self-renewal and differentiation (By similarity). Promotes recruitment of the PRC2 complex to the inactive X chromosome in differentiating XX ES cells and PRC2 recruitment to target genes in undifferentiated ES cells (By similarity). Required to repress Hox genes by enhancing H3K27me3 methylation of the PRC2 complex (By similarity). In some conditions may act as an inhibitor of PRC2 activity: able to activate the CDKN2A gene and promote cellular senescence by suppressing the catalytic activity of the PRC2 complex locally (By similarity). Binds to the metal-regulating-element (MRE) of MT1A gene promoter (By similarity).

Phenotypes From GWAS Catalog for MTF2 Gene

Gene Ontology (GO) - Molecular Function for MTF2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding IEA --
GO:0001226 RNA polymerase II transcription corepressor binding IPI 29628311
GO:0003677 DNA binding IBA 21873635
GO:0003682 chromatin binding IBA 21873635
GO:0005515 protein binding IPI --
genes like me logo Genes that share ontologies with MTF2: view
genes like me logo Genes that share phenotypes with MTF2: view

Animal Models for MTF2 Gene

MGI Knock Outs for MTF2:
  • Mtf2 Mtf2<tm1.1Hko>

miRNA for MTF2 Gene

miRTarBase miRNAs that target MTF2

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MTF2

Clone products for research

  • Addgene plasmids for MTF2

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for MTF2 Gene

Localization for MTF2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MTF2 Gene

Nucleus. Note=Localizes to chromatin as part of the PRC2 complex. {ECO:0000269 PubMed:31959557}.

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 MTF2 gene
Compartment Confidence
nucleus 5
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
endosome 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for MTF2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA,IDA 8619255
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IDA 8619255
GO:0005925 focal adhesion IDA --
GO:0035098 colocalizes_with ESC/E(Z) complex IBA,ISS --
genes like me logo Genes that share ontologies with MTF2: view

Pathways & Interactions for MTF2 Gene

genes like me logo Genes that share pathways with MTF2: view

Gene Ontology (GO) - Biological Process for MTF2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II ISS --
GO:0006325 chromatin organization IBA 21873635
GO:0006355 regulation of transcription, DNA-templated IBA 21873635
GO:0007379 segment specification ISS --
GO:0019827 stem cell population maintenance ISS --
genes like me logo Genes that share ontologies with MTF2: view

No data available for SIGNOR curated interactions for MTF2 Gene

Drugs & Compounds for MTF2 Gene

(2) Drugs for MTF2 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with MTF2: view

Transcripts for MTF2 Gene

mRNA/cDNA for MTF2 Gene

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

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MTF2

Clone products for research

  • Addgene plasmids for MTF2

Alternative Splicing Database (ASD) splice patterns (SP) for MTF2 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15a · 15b ^ 16 ^ 17a · 17b
SP1: -
SP2: -
SP3: -
SP4: - - - - -
SP5: -
SP6:
SP7:

Relevant External Links for MTF2 Gene

GeneLoc Exon Structure for
MTF2

Expression for MTF2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MTF2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for MTF2 Gene

This gene is overexpressed in Adipocyte (37.9), Peripheral blood mononuclear cells (10.0), and Testis (10.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for MTF2 Gene



Protein tissue co-expression partners for MTF2 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MTF2

SOURCE GeneReport for Unigene cluster for MTF2 Gene:

Hs.31016

Evidence on tissue expression from TISSUES for MTF2 Gene

  • Blood(4.3)
  • Nervous system(2.9)
genes like me logo Genes that share expression patterns with MTF2: view

Primer products for research

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for MTF2 Gene

Orthologs for MTF2 Gene

This gene was present in the common ancestor of animals.

Orthologs for MTF2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia MTF2 29 30
  • 100 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia MTF2 29 30
  • 97.98 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia MTF2 29 30
  • 97.83 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 30
  • 97 (a)
OneToMany
-- 30
  • 91 (a)
OneToMany
Mouse
(Mus musculus)
Mammalia Mtf2 29 16 30
  • 95.5 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia MTF2 30
  • 95 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Mtf2 29
  • 94.04 (n)
Chicken
(Gallus gallus)
Aves MTF2 29 30
  • 87.95 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia MTF2 30
  • 88 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia mtf2 29
  • 78.46 (n)
Str.16662 29
African clawed frog
(Xenopus laevis)
Amphibia Xl.11955 29
Zebrafish
(Danio rerio)
Actinopterygii mtf2 29 30
  • 65.06 (n)
OneToOne
Dr.13582 29
Fruit Fly
(Drosophila melanogaster)
Insecta Pcl 30
  • 14 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.6624 30
  • 37 (a)
OneToMany
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.880 29
Species where no ortholog for MTF2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • Worm (Caenorhabditis elegans)

Evolution for MTF2 Gene

ENSEMBL:
Gene Tree for MTF2 (if available)
TreeFam:
Gene Tree for MTF2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MTF2: view image
Alliance of Genome Resources:
Additional Orthologs for MTF2

Paralogs for MTF2 Gene

Paralogs for MTF2 Gene

(2) SIMAP similar genes for MTF2 Gene using alignment to 3 proteins:

  • MTF2_HUMAN
  • B4DZG1_HUMAN
  • Q96G26_HUMAN
genes like me logo Genes that share paralogs with MTF2: view

Variants for MTF2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MTF2 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
rs150266251 Benign: not provided 93,118,449(+) G/A
NM_007358.4(MTF2):c.728+9G>A
INTRON
rs2815427 -- p.Ser140Cys

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for MTF2 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for MTF2 Gene

Variant ID Type Subtype PubMed ID
nsv1008602 CNV gain 25217958
nsv1866 CNV insertion 18451855
nsv475764 CNV novel sequence insertion 20440878
nsv508404 CNV deletion 20534489
nsv830614 CNV loss 17160897
nsv830625 CNV loss 17160897

Variation tolerance for MTF2 Gene

Residual Variation Intolerance Score: 22% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.28; 25.52% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MTF2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MTF2
Leiden Open Variation Database (LOVD)
MTF2

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MTF2 Gene

Disorders for MTF2 Gene

MalaCards: The human disease database

(4) MalaCards diseases for MTF2 Gene - From: COP

Disorder Aliases PubMed IDs
retinitis pigmentosa 48
  • rp48
hereditary lymphedema
  • milroy disease
hereditary lymphedema i
  • congenital primary lymphedema
weaver syndrome
  • wvs
- elite association - COSMIC cancer census association via MalaCards
Search MTF2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for MTF2

genes like me logo Genes that share disorders with MTF2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MTF2 Gene

Publications for MTF2 Gene

  1. Molecular basis for H3K36me3 recognition by the Tudor domain of PHF1. (PMID: 23142980) Musselman CA … Kutateladze TG (Nature structural & molecular biology 2012) 3 4
  2. A novel human homologue of Drosophila polycomblike gene is up-regulated in multiple cancers. (PMID: 15563832) Wang S … Zhu J (Gene 2004) 2 3
  3. A Dimeric Structural Scaffold for PRC2-PCL Targeting to CpG Island Chromatin. (PMID: 31959557) Chen S … Liu X (Molecular cell 2020) 4
  4. Systematic mapping of genetic interactions for de novo fatty acid synthesis identifies C12orf49 as a regulator of lipid metabolism. (PMID: 32694731) Aregger M … Moffat J (Nature metabolism 2020) 3
  5. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3

Products for MTF2 Gene

Sources for MTF2 Gene