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    MTERF2 mitochondrial transcription termination factor 2 [ Homo sapiens (human) ]

    Gene ID: 80298, updated on 27-Nov-2024

    Summary

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    Official Symbol
    MTERF2provided by HGNC
    Official Full Name
    mitochondrial transcription termination factor 2provided by HGNC
    Primary source
    HGNC:HGNC:30779
    See related
    Ensembl:ENSG00000120832 MIM:616929; AllianceGenome:HGNC:30779
    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
    mTERFL; MTERFD3
    Summary
    Enables DNA binding activity. Predicted to be involved in termination of mitochondrial transcription. Located in mitochondrion. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in adrenal (RPKM 8.7), skin (RPKM 7.9) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See MTERF2 in Genome Data Viewer
    Location:
    12q23.3
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (106977277..106987146, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (106940911..106950780, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (107371055..107380924, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 9924 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6950 Neighboring gene TMEM263 divergent transcript Neighboring gene transmembrane protein 263 Neighboring gene MPRA-validated peak1931 silencer Neighboring gene cryptochrome circadian regulator 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4820 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6951 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4821 Neighboring gene uncharacterized LOC124903009

    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
    • 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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    Related articles in PubMed

    1. Cloning and functional analysis of human mTERFL encoding a novel mitochondrial transcription termination factor-like protein. Chen Y, et al. Biochem Biophys Res Commun, 2005 Dec 2. PMID 16226716
    2. MTERF2 contributes to MPP(+)-induced mitochondrial dysfunction and cell damage. Han Y, et al. Biochem Biophys Res Commun, 2016 Feb 26. PMID 26826381
    3. Structure of mitochondrial transcription termination factor 3 reveals a novel nucleic acid-binding domain. Spåhr H, et al. Biochem Biophys Res Commun, 2010 Jul 2. PMID 20430012
    4. Overexpression of MTERFD1 or MTERFD3 impairs the completion of mitochondrial DNA replication. Hyvärinen AK, et al. Mol Biol Rep, 2011 Feb. PMID 20577816
    5. A family of putative transcription termination factors shared amongst metazoans and plants. Linder T, et al. Curr Genet, 2005 Oct. PMID 16193327

    See all (18) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. These findings demonstrate that MTERF2 contributes to MPP(+)-induced mitochondrial disruption and cell damage.
      Title: MTERF2 contributes to MPP(+)-induced mitochondrial dysfunction and cell damage.
    2. MTERFD1 and MTERFD3 have a role in impairing the completion of mitochondrial DNA replication
      Title: Overexpression of MTERFD1 or MTERFD3 impairs the completion of mitochondrial DNA replication.
    3. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
    4. MTERF-domain of human MTERF3 forms a half-doughnut-shaped right-handed superhelix.
      Title: Structure of mitochondrial transcription termination factor 3 reveals a novel nucleic acid-binding domain.
    5. mTERFL is a novel mTERF family member and a serum-inhibitory factor probably participating in the regulation of cell growth
      Title: Cloning and functional analysis of human mTERFL encoding a novel mitochondrial transcription termination factor-like protein.
    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

    Clone Names

    • FLJ14062

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables double-stranded DNA binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables nucleic acid binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in regulation of DNA-templated transcription IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in termination of mitochondrial transcription IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in mitochondrial matrix IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitochondrial nucleoid ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in mitochondrion HTP PubMed 
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    transcription termination factor 2, mitochondrial
    Names
    MTERF domain containing 3
    mTERF domain-containing protein 3, mitochondrial
    mTERF-like
    mitochondrial transcription termination factor-like protein

    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_001033050.3 → NP_001028222.1  transcription termination factor 2, mitochondrial precursor

      See identical proteins and their annotated locations for NP_001028222.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript. Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      AC007541, AK024124, BC025984
      Consensus CDS
      CCDS9111.1
      UniProtKB/Swiss-Prot
      Q49AM1, Q53HM2, Q9H4L6, Q9H7Y9
      Related
      ENSP00000240050.4, ENST00000240050.9
      Conserved Domains (1) summary
      cl19765
      Location:58 → 360
      mTERF; mTERF

    2. NM_025198.5 → NP_079474.2  transcription termination factor 2, mitochondrial precursor

      See identical proteins and their annotated locations for NP_079474.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate 5' splice site, compared to variant 1. Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      AC007541, BC025984, DA074327
      Consensus CDS
      CCDS9111.1
      UniProtKB/Swiss-Prot
      Q49AM1, Q53HM2, Q9H4L6, Q9H7Y9
      Related
      ENSP00000376575.2, ENST00000392830.6
      Conserved Domains (1) summary
      cl19765
      Location:58 → 360
      mTERF; mTERF

    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_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      106977277..106987146 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017019987.2 → XP_016875476.1  transcription termination factor 2, mitochondrial isoform X1

      UniProtKB/Swiss-Prot
      Q49AM1, Q53HM2, Q9H4L6, Q9H7Y9
      Conserved Domains (1) summary
      cl19765
      Location:58 → 360
      mTERF; mTERF

    2. XM_017019986.2 → XP_016875475.1  transcription termination factor 2, mitochondrial isoform X1

      UniProtKB/Swiss-Prot
      Q49AM1, Q53HM2, Q9H4L6, Q9H7Y9
      Conserved Domains (1) summary
      cl19765
      Location:58 → 360
      mTERF; mTERF

    3. XM_017019985.3 → XP_016875474.1  transcription termination factor 2, mitochondrial isoform X1

      UniProtKB/Swiss-Prot
      Q49AM1, Q53HM2, Q9H4L6, Q9H7Y9
      Conserved Domains (1) summary
      cl19765
      Location:58 → 360
      mTERF; mTERF

    4. XM_011538767.3 → XP_011537069.1  transcription termination factor 2, mitochondrial isoform X1

      See identical proteins and their annotated locations for XP_011537069.1

      UniProtKB/Swiss-Prot
      Q49AM1, Q53HM2, Q9H4L6, Q9H7Y9
      Related
      ENSP00000447651.1, ENST00000552029.1
      Conserved Domains (1) summary
      cl19765
      Location:58 → 360
      mTERF; mTERF

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      106940911..106950780 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054373292.1 → XP_054229267.1  transcription termination factor 2, mitochondrial isoform X1

      UniProtKB/Swiss-Prot
      Q49AM1, Q53HM2, Q9H4L6, Q9H7Y9

    2. XM_054373291.1 → XP_054229266.1  transcription termination factor 2, mitochondrial isoform X1

      UniProtKB/Swiss-Prot
      Q49AM1, Q53HM2, Q9H4L6, Q9H7Y9

    3. XM_054373290.1 → XP_054229265.1  transcription termination factor 2, mitochondrial isoform X1

      UniProtKB/Swiss-Prot
      Q49AM1, Q53HM2, Q9H4L6, Q9H7Y9

    4. XM_054373289.1 → XP_054229264.1  transcription termination factor 2, mitochondrial isoform X1

      UniProtKB/Swiss-Prot
      Q49AM1, Q53HM2, Q9H4L6, Q9H7Y9
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q49AM1.2 GenPept UniProtKB/Swiss-Prot:Q49AM1

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