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

Gene ID: 130916, updated on 21-Dec-2019

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
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
Expression
Ubiquitous expression in ovary (RPKM 7.9), thyroid (RPKM 7.8) and 25 other tissues See more
Orthologs

Genomic context

See MTERF4 in Genome Data Viewer
Location:
2q37.3
Exon count:
10
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (241072168..241102332, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (242026509..242041747, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107985787 Neighboring gene uncharacterized LOC105373970 Neighboring gene sushi, nidogen and EGF like domains 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

NHGRI GWAS Catalog

Description
Genome-wide association study of circulating estradiol, testosterone, and sex hormone-binding globulin in postmenopausal women.
NHGRI GWA 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
double-stranded DNA binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
rRNA binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
camera-type eye development IEA
Inferred from Electronic Annotation
more info
 
heart development IEA
Inferred from Electronic Annotation
more info
 
mitochondrial ribosome assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrial transcription IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrial translation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein targeting to mitochondrion IEA
Inferred from Electronic Annotation
more info
 
rRNA methylation TAS
Traceable Author Statement
more info
 
regulation of transcription, DNA-templated IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytosol IDA
Inferred from Direct Assay
more info
 
mitochondrial large ribosomal subunit IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrial matrix TAS
Traceable Author Statement
more info
 
mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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)

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

    Status: VALIDATED

    Source sequence(s)
    AC005237, AK294192, BQ026011
    Consensus CDS
    CCDS82584.1
    UniProtKB/TrEMBL
    B4DFP7
    Related
    ENSP00000384998.1, ENST00000406593.1
  2. NM_001330180.1NP_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
    Related
    ENSP00000375840.2, ENST00000391980.7
    Conserved Domains (1) summary
    cl19765
    Location:122265
    mTERF; mTERF

RNA

  1. NR_028049.1 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, DA496994
  2. NR_028050.1 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_028051.1 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, DA496994, DB256263
  4. NR_138463.2 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC005237
  5. NR_138464.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC005237
  6. NR_138465.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC005237
  7. NR_138466.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC005237

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    241072168..241102332 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017003380.2XP_016858869.1  transcription termination factor 4, mitochondrial isoform X1

  2. XM_024452709.1XP_024308477.1  transcription termination factor 4, mitochondrial isoform X7

  3. XM_017003382.2XP_016858871.1  transcription termination factor 4, mitochondrial isoform X1

  4. XM_017003381.2XP_016858870.1  transcription termination factor 4, mitochondrial isoform X1

  5. XM_017003379.2XP_016858868.1  transcription termination factor 4, mitochondrial isoform X1

  6. XM_017003383.2XP_016858872.1  transcription termination factor 4, mitochondrial isoform X1

  7. XM_017003387.2XP_016858876.1  transcription termination factor 4, mitochondrial isoform X2

    UniProtKB/Swiss-Prot
    Q7Z6M4
    Related
    ENSP00000480378.1, ENST00000614476.4
    Conserved Domains (1) summary
    cl19765
    Location:122265
    mTERF; mTERF
  8. XM_017003391.2XP_016858880.1  transcription termination factor 4, mitochondrial isoform X7

    UniProtKB/TrEMBL
    B4DFP7
  9. XM_024452707.1XP_024308475.1  transcription termination factor 4, mitochondrial isoform X5

  10. XM_024452708.1XP_024308476.1  transcription termination factor 4, mitochondrial isoform X6

  11. XM_024452706.1XP_024308474.1  transcription termination factor 4, mitochondrial isoform X4

  12. XM_006712292.4XP_006712355.1  transcription termination factor 4, mitochondrial isoform X3

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