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    MTERF4 mitochondrial transcription termination factor 4 [ Homo sapiens (human) ]

    Gene ID: 130916, updated on 2-Nov-2024

    Summary

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    Official Symbol
    MTERF4provided by HGNC
    Official Full Name
    mitochondrial transcription termination factor 4provided by HGNC
    Primary source
    HGNC:HGNC:28785
    See related
    Ensembl:ENSG00000122085 MIM:615393; AllianceGenome:HGNC:28785
    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
    MTERFD2
    Summary
    Enables rRNA binding activity. Predicted to be involved in mitochondrial ribosome assembly and mitochondrial transcription. Predicted to act upstream of or within several processes, including camera-type eye development; protein targeting to mitochondrion; and ribosome assembly. Located in cytosol and mitochondrion. Part of mitochondrial large ribosomal subunit. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in ovary (RPKM 7.9), thyroid (RPKM 7.8) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See MTERF4 in Genome Data Viewer
    Location:
    2q37.3
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (241042586..241102287, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (241539417..241601395, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (242011583..242041702, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene ciliary rootlet coiled-coil, rootletin family member 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:241922772-241923279 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:241923280-241923786 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12525 Neighboring gene uncharacterized LOC107985787 Neighboring gene TWIST1 associated long noncoding RNA regulated by androgen receptor Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:241949545-241950150 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:241950151-241950754 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:241957354-241957854 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:241957855-241958355 Neighboring gene SNED1 antisense RNA 1 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_57691 Neighboring gene sushi, nidogen and EGF like domains 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:241973517-241974460 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:241974461-241975402 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:241975403-241976346 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17412 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17413 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12526 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:242012857-242013373 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:242040949-242041488 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:242041489-242042028 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17414 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17415 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_57723 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_57727 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_57732 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17416 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12527 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17417 Neighboring gene PAS domain containing serine/threonine kinase Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:242079269-242079769 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12528 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17418 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12529 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12530 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17419 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12531 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:242097726-242098226 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:242106157-242106656 Neighboring gene uncharacterized LOC105373971 Neighboring gene protein phosphatase 1 regulatory subunit 7 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:242125644-242126166 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:242127362-242128046

    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

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genome-wide association study of circulating estradiol, testosterone, and sex hormone-binding globulin in postmenopausal women.
    EBI GWAS Catalog

    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

    • FLJ16261, MGC61716

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables double-stranded DNA binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables rRNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in camera-type eye development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in heart development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in mitochondrial ribosome assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in mitochondrial transcription IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein targeting to mitochondrion IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in rRNA processing IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of DNA-templated transcription IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    part_of mitochondrial large ribosomal subunit IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in mitochondrial matrix TAS
    Traceable Author Statement
    more info
    		  
    located_in mitochondrion HTP PubMed 
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    transcription termination factor 4, mitochondrial
    Names
    MTERF domain-containing protein 2

    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_001330179.2 → NP_001317108.1  transcription termination factor 4, mitochondrial isoform 2

      Status: VALIDATED

      Source sequence(s)
      AK294192, BQ026011
      Consensus CDS
      CCDS82584.1
      UniProtKB/TrEMBL
      B4DFP7
      Related
      ENSP00000384998.1, ENST00000406593.1

    2. NM_001330180.2 → NP_001317109.1  transcription termination factor 4, mitochondrial isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC005237

    3. NM_182501.4 → NP_872307.2  transcription termination factor 4, mitochondrial isoform 1

      See identical proteins and their annotated locations for NP_872307.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AA907534, BC053533, BM454834, DA496994
      Consensus CDS
      CCDS2544.1
      UniProtKB/Swiss-Prot
      A8K6K0, Q7Z6M4, Q9P0E0
      Related
      ENSP00000375840.2, ENST00000391980.7
      Conserved Domains (1) summary
      cl19765
      Location:91 → 187
      mTERF

    RNA

    1. NR_028049.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) represents several additional exons at the 3' end, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AF161359, AK055474, AK131298, BX648184

    2. NR_028050.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks an alternate exon and uses an alternate 3' splice pattern, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AK055474, AK093695, BX648184, DA496994
      Related
      ENST00000455202.6

    3. NR_028051.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) lacks three alternate exons and represents an alternate 3' splice pattern, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AK055474, BX648184, DB256263

    4. NR_138463.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC005237

    5. NR_138464.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC005237

    6. NR_138465.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC005237

    7. NR_138466.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC005237

    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_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      241042586..241102287 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047443428.1 → XP_047299384.1  transcription termination factor 4, mitochondrial isoform X1

    2. XM_047443427.1 → XP_047299383.1  transcription termination factor 4, mitochondrial isoform X1

      Related
      ENST00000464344.6

    3. XM_047443429.1 → XP_047299385.1  transcription termination factor 4, mitochondrial isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      241539417..241601395 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054340600.1 → XP_054196575.1  transcription termination factor 4, mitochondrial isoform X1

    2. XM_054340599.1 → XP_054196574.1  transcription termination factor 4, mitochondrial isoform X1

    3. XM_054340601.1 → XP_054196576.1  transcription termination factor 4, mitochondrial isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q7Z6M4.3 GenPept UniProtKB/Swiss-Prot:Q7Z6M4

    Gene LinkOut

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

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