Aliases for MTERF4 Gene

Aliases for MTERF4 Gene

  • Mitochondrial Transcription Termination Factor 4 2 3 4 5
  • Transcription Termination Factor 4, Mitochondrial 3 4
  • MTERF Domain-Containing Protein 2 3 4
  • MTERFD2 3 4
  • MTERF Domain Containing 2 2
  • MGC61716 2
  • MTERF4 5

External Ids for MTERF4 Gene

Previous HGNC Symbols for MTERF4 Gene

  • MTERFD2

Summaries for MTERF4 Gene

GeneCards Summary for MTERF4 Gene

MTERF4 (Mitochondrial Transcription Termination Factor 4) is a Protein Coding gene. Diseases associated with MTERF4 include Deafness, Aminoglycoside-Induced. Among its related pathways are rRNA processing in the mitochondrion and Gene Expression. Gene Ontology (GO) annotations related to this gene include double-stranded DNA binding and rRNA binding.

UniProtKB/Swiss-Prot Summary for MTERF4 Gene

  • Regulator of mitochondrial ribosome biogenesis and translation. Binds to mitochondrial ribosomal RNAs 16S, 12S and 7S and targets NSUN4 RNA methyltransferase to the mitochondrial large ribosomal subunit (39S).

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MTERF4 Gene

Genomics for MTERF4 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for MTERF4 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MTERF4 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MTERF4

Genomic Locations for MTERF4 Gene

Latest Assembly
chr2:241,072,168-241,102,332
(GRCh38/hg38)
Size:
30,165 bases
Orientation:
Minus strand

Previous Assembly
chr2:242,011,583-242,041,702
(GRCh37/hg19 by Entrez Gene)
Size:
30,120 bases
Orientation:
Minus strand

chr2:242,011,584-242,041,747
(GRCh37/hg19 by Ensembl)
Size:
30,164 bases
Orientation:
Minus strand

Genomic View for MTERF4 Gene

Genes around MTERF4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MTERF4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MTERF4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MTERF4 Gene

Proteins for MTERF4 Gene

  • Protein details for MTERF4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q7Z6M4-MTEF4_HUMAN
    Recommended name:
    Transcription termination factor 4, mitochondrial
    Protein Accession:
    Q7Z6M4
    Secondary Accessions:
    • A8K6K0
    • Q9P0E0

    Protein attributes for MTERF4 Gene

    Size:
    381 amino acids
    Molecular mass:
    43958 Da
    Quaternary structure:
    • Heterodimer with NSUN4; this interaction may be required for NSUN4 recruitment to the mitochondrial large ribosomal subunit.
    SequenceCaution:
    • Sequence=AAF28919.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for MTERF4 Gene

neXtProt entry for MTERF4 Gene

Post-translational modifications for MTERF4 Gene

  • The mature mitochondrial protein exists in 2 forms differing at the level of their N-terminus, one is starting at residue 43 and the other at residue 48.
  • Ubiquitination at Lys168
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for MTERF4 Gene

Domains & Families for MTERF4 Gene

Gene Families for MTERF4 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for MTERF4 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for MTERF4 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ59868, highly similar to Homo sapiens MTERF domain containing 2 (MTERFD2), mRNA (B4DFP7_HUMAN)
  • cDNA FLJ54914, highly similar to Homo sapiens MTERF domain containing 2 (MTERFD2), mRNA (B4DKD5_HUMAN)
  • mTERF domain-containing protein 2 (MTER2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q7Z6M4

UniProtKB/Swiss-Prot:

MTEF4_HUMAN :
  • The MTERF repeats form a half-donut shaped, right-handed superhelix, where the concave side displays a positively charged path for nucleic acid interaction.
  • Belongs to the mTERF family.
Domain:
  • The MTERF repeats form a half-donut shaped, right-handed superhelix, where the concave side displays a positively charged path for nucleic acid interaction.
Family:
  • Belongs to the mTERF family.
genes like me logo Genes that share domains with MTERF4: view

Function for MTERF4 Gene

Molecular function for MTERF4 Gene

UniProtKB/Swiss-Prot Function:
Regulator of mitochondrial ribosome biogenesis and translation. Binds to mitochondrial ribosomal RNAs 16S, 12S and 7S and targets NSUN4 RNA methyltransferase to the mitochondrial large ribosomal subunit (39S).

Phenotypes From GWAS Catalog for MTERF4 Gene

Gene Ontology (GO) - Molecular Function for MTERF4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003690 double-stranded DNA binding IEA --
GO:0003723 RNA binding IEA --
GO:0005515 protein binding IPI 21531335
GO:0019843 rRNA binding IDA 21531335
genes like me logo Genes that share ontologies with MTERF4: view
genes like me logo Genes that share phenotypes with MTERF4: view

Animal Models for MTERF4 Gene

MGI Knock Outs for MTERF4:

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MTERF4

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for MTERF4 Gene

Localization for MTERF4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MTERF4 Gene

Mitochondrion.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MTERF4 gene
Compartment Confidence
mitochondrion 5
cytosol 5
nucleus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (3)
  • Cytosol (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for MTERF4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA,IDA --
GO:0005759 mitochondrial matrix TAS --
GO:0005762 mitochondrial large ribosomal subunit IDA 21531335
GO:0005829 cytosol IDA --
genes like me logo Genes that share ontologies with MTERF4: view

Pathways & Interactions for MTERF4 Gene

genes like me logo Genes that share pathways with MTERF4: view

Pathways by source for MTERF4 Gene

Gene Ontology (GO) - Biological Process for MTERF4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006364 rRNA processing IEA --
GO:0006390 mitochondrial transcription IEA --
GO:0006626 protein targeting to mitochondrion IEA --
GO:0007507 heart development IEA --
genes like me logo Genes that share ontologies with MTERF4: view

No data available for SIGNOR curated interactions for MTERF4 Gene

Drugs & Compounds for MTERF4 Gene

No Compound Related Data Available

Transcripts for MTERF4 Gene

mRNA/cDNA for MTERF4 Gene

3 REFSEQ mRNAs :
19 NCBI additional mRNA sequence :
22 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MTERF4

Alternative Splicing Database (ASD) splice patterns (SP) for MTERF4 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4a · 4b · 4c · 4d ^ 5a · 5b · 5c ^ 6a · 6b · 6c ^ 7 ^ 8 ^ 9
SP1: - - - - - - -
SP2: - - - - - - - -
SP3: - - - - - - - - - - - - - -
SP4: - - - - -
SP5: - - - - - - - - -
SP6: - - - - - - - - - - - -
SP7: - - -
SP8: - - - - - - -
SP9: - - - -
SP10: - - -
SP11: -

Relevant External Links for MTERF4 Gene

GeneLoc Exon Structure for
MTERF4

Expression for MTERF4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MTERF4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for MTERF4 Gene

This gene is overexpressed in Lung (46.4) and Pancreas (9.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for MTERF4 Gene



Protein tissue co-expression partners for MTERF4 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MTERF4

Evidence on tissue expression from TISSUES for MTERF4 Gene

  • Intestine(4.3)
  • Blood(4.1)
  • Nervous system(4)
  • Thyroid gland(2.2)
  • Heart(2.2)
  • Lung(2.1)
genes like me logo Genes that share expression patterns with MTERF4: view

Primer products for research

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for MTERF4 Gene

Orthologs for MTERF4 Gene

This gene was present in the common ancestor of animals.

Orthologs for MTERF4 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia MTERFD2 30 31
  • 99.02 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia MTERFD2 30 31
  • 81.75 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Mterfd2 30
  • 78.01 (n)
Mouse
(Mus musculus)
Mammalia Mterfd2 30 31
  • 77.08 (n)
OneToOne
Mterf4 17
Dog
(Canis familiaris)
Mammalia MTERFD2 30
  • 75.73 (n)
Oppossum
(Monodelphis domestica)
Mammalia MTERFD2 31
  • 60 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia MTERFD2 31
  • 47 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia MTERFD2 31
  • 41 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia mterfd2 30
  • 50.81 (n)
Zebrafish
(Danio rerio)
Actinopterygii si:dkeyp-94h10.5 30
  • 52.19 (n)
MTERFD2 31
  • 36 (a)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea K11D2.5 31
  • 22 (a)
OneToOne
Species where no ortholog for MTERF4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for MTERF4 Gene

ENSEMBL:
Gene Tree for MTERF4 (if available)
TreeFam:
Gene Tree for MTERF4 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MTERF4: view image

Paralogs for MTERF4 Gene

No data available for Paralogs for MTERF4 Gene

Variants for MTERF4 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MTERF4 Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
rs376157092 Likely Benign: not provided 241,082,272(-) C/T
NM_001080437.3(SNED1):c.4034-5C>T
INTRON
rs6708120 Benign: not provided 241,073,344(-) A/G
NM_001080437.3(SNED1):c.3896A>G (p.His1299Arg)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
rs6721364 Benign: not provided 241,073,367(-) G/A
NM_001080437.3(SNED1):c.3916+3G>A
NON_CODING_TRANSCRIPT_VARIANT,INTRON
rs10167328 - p.Asp378Glu
rs10203977 - p.Asp347Glu

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for MTERF4 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for MTERF4 Gene

Variant ID Type Subtype PubMed ID
esv2077609 CNV deletion 18987734
esv2721971 CNV deletion 23290073
esv2721972 CNV deletion 23290073
esv3575345 CNV gain 25503493
nsv213970 CNV deletion 16902084

Variation tolerance for MTERF4 Gene

Residual Variation Intolerance Score: 68.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.91; 83.82% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MTERF4 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MTERF4

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MTERF4 Gene

Disorders for MTERF4 Gene

MalaCards: The human disease database

(1) MalaCards diseases for MTERF4 Gene - From: COP

Disorder Aliases PubMed IDs
deafness, aminoglycoside-induced
  • deafness, streptomycin-induced
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for MTERF4

genes like me logo Genes that share disorders with MTERF4: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MTERF4 Gene

Publications for MTERF4 Gene

  1. MTERF4 regulates translation by targeting the methyltransferase NSUN4 to the mammalian mitochondrial ribosome. (PMID: 21531335) Cámara Y … Larsson NG (Cell metabolism 2011) 2 3 4
  2. Structure of the essential MTERF4:NSUN4 protein complex reveals how an MTERF protein collaborates to facilitate rRNA modification. (PMID: 23022348) Yakubovskaya E … Garcia-Diaz M (Structure (London, England : 1993) 2012) 3 4
  3. Structure of the human MTERF4-NSUN4 protein complex that regulates mitochondrial ribosome biogenesis. (PMID: 22949673) Spåhr H … Hallberg BM (Proceedings of the National Academy of Sciences of the United States of America 2012) 3 4
  4. A family of putative transcription termination factors shared amongst metazoans and plants. (PMID: 16193327) Linder T … Gustafsson CM (Current genetics 2005) 2 3
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4

Products for MTERF4 Gene

Sources for MTERF4 Gene