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

Gene ID: 130916, updated on 5-Aug-2022

Summary

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 rRNA processing and regulation of transcription, DNA-templated. Predicted to act upstream of or within several processes, including mitochondrial transcription; protein targeting to mitochondrion; and ribosome assembly. Located in cytosol and mitochondrion. Part of mitochondrial large ribosomal subunit. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in ovary (RPKM 7.9), thyroid (RPKM 7.8) and 25 other tissues See more
Orthologs
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Genomic context

See MTERF4 in Genome Data Viewer
Location:
2q37.3
Exon count:
10
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (241042586..241102287, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (241571271..241601395, complement)
105.20220307 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 uncharacterized LOC107985787 Neighboring gene sushi, nidogen and EGF like domains 1 Neighboring gene SNED1 antisense RNA 1 Neighboring gene PAS domain containing serine/threonine kinase Neighboring gene protein phosphatase 1 regulatory subunit 7 Neighboring gene uncharacterized LOC105373971

Genomic regions, transcripts, and products

Expression

  • 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

Phenotypes

EBI GWAS Catalog

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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 transcription IEA
Inferred from Electronic Annotation
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
 
involved_in ribosome assembly 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 IDA
Inferred from Direct Assay
more info
 

General protein information

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_001330179.2NP_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_001330180.2NP_001317109.1  transcription termination factor 4, mitochondrial isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC005237
  3. NM_182501.4NP_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
    Q7Z6M4, Q9P0E0
    Related
    ENSP00000375840.2, ENST00000391980.7
    Conserved Domains (1) summary
    cl19765
    Location:91187
    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: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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_047443428.1XP_047299384.1  transcription termination factor 4, mitochondrial isoform X1

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

    Related
    ENST00000464344.6
  3. XM_047443429.1XP_047299385.1  transcription termination factor 4, mitochondrial isoform X1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    241571271..241601395 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)