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

Gene ID: 80298, updated on 2-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
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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 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)

Genotypes

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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