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    MTF2 metal response element binding transcription factor 2 [ Homo sapiens (human) ]

    Gene ID: 22823, updated on 2-Nov-2024

    Summary

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    Official Symbol
    MTF2provided by HGNC
    Official Full Name
    metal response element binding transcription factor 2provided by HGNC
    Primary source
    HGNC:HGNC:29535
    See related
    Ensembl:ENSG00000143033 MIM:609882; AllianceGenome:HGNC:29535
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    M96; PCL2; TDRD19A; dJ976O13.2
    Summary
    Enables methylated histone binding activity and transcription corepressor binding activity. Predicted to be involved in several processes, including negative regulation of gene expression, epigenetic; segment specification; and stem cell population maintenance. Predicted to act upstream of or within cellular response to leukemia inhibitory factor. Located in cytoplasm and nucleoplasm. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in testis (RPKM 5.1), lymph node (RPKM 4.5) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See MTF2 in Genome Data Viewer
    Location:
    1p22.1
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (93079283..93139076)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (92924870..92984654)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (93544840..93604633)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene RNA, U6 small nuclear 210, pseudogene Neighboring gene Sharpr-MPRA regulatory region 7481 Neighboring gene RN7SK pseudogene 123 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1325 Neighboring gene Sharpr-MPRA regulatory region 13810 Neighboring gene Sharpr-MPRA regulatory region 11191 Neighboring gene MPRA-validated peak321 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1081 Neighboring gene transmembrane p24 trafficking protein 5 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1327 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1082 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1328 Neighboring gene ribosomal protein L36a pseudogene 11 Neighboring gene coiled-coil domain containing 18

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. MTF2 facilitates the advancement of osteosarcoma through mediating EZH2/SFRP1/Wnt signaling.
      Title: MTF2 facilitates the advancement of osteosarcoma through mediating EZH2/SFRP1/Wnt signaling.
    2. Tissue-Specific Tumour Suppressor and Oncogenic Activities of the Polycomb-like Protein MTF2.
      Title: Tissue-Specific Tumour Suppressor and Oncogenic Activities of the Polycomb-like Protein MTF2.
    3. Comprehensive Pan-Cancer Analysis of MTF2 Effects on Human Tumors.
      Title: Comprehensive Pan-Cancer Analysis of MTF2 Effects on Human Tumors.
    4. PHF19 mediated regulation of proliferation and invasiveness in prostate cancer cells.
      Title: PHF19 mediated regulation of proliferation and invasiveness in prostate cancer cells.
    5. MTF2 Deficiency is associated with chemoresistance in Acute Myeloid Leukemia.
      Title: Targeting the MTF2-MDM2 Axis Sensitizes Refractory Acute Myeloid Leukemia to Chemotherapy.
    6. the F61L/S86F mutant of MTF2 Tudor-PHD1 was able to bind to H3K36me3 as strong as the PHF1 Tudor bound to this PTM . We concluded that the hydrophobic patch plays an essential role in binding of these Tudors to methylated chromatin
      Title: An aromatic cage is required but not sufficient for binding of Tudor domains of the Polycomblike protein family to H3K36me3.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables RNA polymerase II transcription regulatory region sequence-specific DNA binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables chromatin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables methylated histone binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables methylated histone binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables transcription corepressor binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cellular response to leukemia inhibitory factor IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in epigenetic regulation of gene expression ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in negative regulation of gene expression, epigenetic IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in segment specification ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in stem cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in stem cell population maintenance ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    part_of ESC/E(Z) complex ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    metal-response element-binding transcription factor 2
    Names
    hPCl2
    metal regulatory transcription factor 2
    metal-response element DNA-binding protein M96
    polycomb-like 2
    polycomb-like protein 2
    putative DNA binding protein
    tudor domain containing 19A

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001164391.2 → NP_001157863.1  metal-response element-binding transcription factor 2 isoform c

      See identical proteins and their annotated locations for NP_001157863.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks an alternate portion of a coding exon compared to variant 1, that causes a frameshift. The resulting isoform (c) is shorter at the N-terminus compared to isoform a.
      Source sequence(s)
      AF072814, AK302776, AL117354, BQ025793, DB173315
      Consensus CDS
      CCDS53341.1
      UniProtKB/TrEMBL
      B4DZG1
      Related
      ENSP00000444962.1, ENST00000545708.5
      Conserved Domains (3) summary
      cd15578
      Location:2 → 54
      PHD1_MTF2; PHD finger 1 found in metal-response element-binding transcription factor 2 (MTF2)
      cd15580
      Location:101 → 152
      PHD2_MTF2; PHD finger 2 found in metal-response element-binding transcription factor 2 (MTF2)
      pfam14061
      Location:442 → 489
      Mtf2_C; Polycomb-like MTF2 factor 2

    2. NM_001164392.2 → NP_001157864.1  metal-response element-binding transcription factor 2 isoform b

      See identical proteins and their annotated locations for NP_001157864.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (b) has the same N- and C-termini but is shorter compared to isoform a.
      Source sequence(s)
      AL117354, BC010013, BQ025793, DB173315
      Consensus CDS
      CCDS53340.1
      UniProtKB/TrEMBL
      Q96G26
      Related
      ENSP00000359326.4, ENST00000370303.4
      Conserved Domains (4) summary
      cd15578
      Location:104 → 156
      PHD1_MTF2; PHD finger 1 found in metal-response element-binding transcription factor 2 (MTF2)
      cd15580
      Location:203 → 254
      PHD2_MTF2; PHD finger 2 found in metal-response element-binding transcription factor 2 (MTF2)
      pfam14061
      Location:487 → 534
      Mtf2_C; Polycomb-like MTF2 factor 2
      cd20450
      Location:45 → 98
      Tudor_MTF2; Tudor domain found in metal-response element-binding transcription factor 2 (MTF2) and similar proteins

    3. NM_001164393.2 → NP_001157865.1  metal-response element-binding transcription factor 2 isoform c

      See identical proteins and their annotated locations for NP_001157865.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) lacks two coding exons compared to variant 1, that causes a frameshift. The resulting isoform (c) is shorter at the N-terminus compared to isoform a.
      Source sequence(s)
      AK302900, AL117354, BQ025793
      Consensus CDS
      CCDS53341.1
      UniProtKB/TrEMBL
      B4DZG1
      Related
      ENSP00000443295.1, ENST00000540243.5
      Conserved Domains (3) summary
      cd15578
      Location:2 → 54
      PHD1_MTF2; PHD finger 1 found in metal-response element-binding transcription factor 2 (MTF2)
      cd15580
      Location:101 → 152
      PHD2_MTF2; PHD finger 2 found in metal-response element-binding transcription factor 2 (MTF2)
      pfam14061
      Location:442 → 489
      Mtf2_C; Polycomb-like MTF2 factor 2

    4. NM_007358.4 → NP_031384.1  metal-response element-binding transcription factor 2 isoform a

      See identical proteins and their annotated locations for NP_031384.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
      Source sequence(s)
      AF086908, AJ010014, AL117354, BC001897, BQ025793, CA417978, DB173315
      Consensus CDS
      CCDS742.1
      UniProtKB/Swiss-Prot
      A6NGQ9, A8K2Q3, B1AKT5, B1AKT6, Q96G26, Q9UES9, Q9UP40, Q9Y483
      Related
      ENSP00000359321.4, ENST00000370298.9
      Conserved Domains (4) summary
      cd15578
      Location:104 → 156
      PHD1_MTF2; PHD finger 1 found in metal-response element-binding transcription factor 2 (MTF2)
      cd15580
      Location:203 → 254
      PHD2_MTF2; PHD finger 2 found in metal-response element-binding transcription factor 2 (MTF2)
      pfam14061
      Location:544 → 591
      Mtf2_C; Polycomb-like MTF2 factor 2
      cd20450
      Location:45 → 98
      Tudor_MTF2; Tudor domain found in metal-response element-binding transcription factor 2 (MTF2) and similar proteins

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      93079283..93139076
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      92924870..92984654
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9Y483.3 GenPept UniProtKB/Swiss-Prot:Q9Y483

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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