This nuclear gene encodes a mitochondrial matrix protein that appears to contribute to peptide chain termination in the mitochondrial translation machinery. Two different 1 bp deletions (resulting in the same premature stop codon)result in decreased mitochondrial translation, decreased levels of oxidative phosphorylation complexes and encepthalomyopathy. Alternative splicing re... See more...

Aliases for MTRFR Gene

Aliases for MTRFR Gene

  • Mitochondrial Translation Release Factor In Rescue 2 3
  • Probable Peptide Chain Release Factor C12orf65, Mitochondrial 3 4
  • Chromosome 12 Open Reading Frame 65 2 5
  • C12orf65 3 5
  • COXPD7 2 3
  • SPG55 2 3
  • FLJ38663 2

External Ids for MTRFR Gene

Previous HGNC Symbols for MTRFR Gene

  • C12orf65

Summaries for MTRFR Gene

Entrez Gene Summary for MTRFR Gene

  • This nuclear gene encodes a mitochondrial matrix protein that appears to contribute to peptide chain termination in the mitochondrial translation machinery. Two different 1 bp deletions (resulting in the same premature stop codon)result in decreased mitochondrial translation, decreased levels of oxidative phosphorylation complexes and encepthalomyopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2010]

GeneCards Summary for MTRFR Gene

MTRFR (Mitochondrial Translation Release Factor In Rescue) is a Protein Coding gene. Diseases associated with MTRFR include Spastic Paraplegia 55, Autosomal Recessive and Combined Oxidative Phosphorylation Deficiency 7.

UniProtKB/Swiss-Prot Summary for MTRFR Gene

  • May act as a codon-independent translation release factor that has lost all stop codon specificity and directs the termination of translation in mitochondrion. May help rescuing stalled mitoribosomes during translation (By similarity).

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

Genomics for MTRFR Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for MTRFR 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 MTRFR on the GeneHancer Hub at the UCSC Golden Path

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

Genomic Locations for MTRFR Gene

Latest Assembly
chr12:123,233,385-123,258,079
(GRCh38/hg38)
Size:
24,695 bases
Orientation:
Plus strand

Previous Assembly
chr12:123,717,983-123,742,507
(GRCh37/hg19 by Entrez Gene)
Size:
24,525 bases
Orientation:
Plus strand

chr12:123,717,463-123,742,506
(GRCh37/hg19 by Ensembl)
Size:
25,044 bases
Orientation:
Plus strand

Genomic View for MTRFR Gene

Genes around MTRFR on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for MTRFR Gene

Proteins for MTRFR Gene

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

    Protein Symbol:
    Q9H3J6-CL065_HUMAN
    Recommended name:
    Probable peptide chain release factor C12orf65, mitochondrial
    Protein Accession:
    Q9H3J6
    Secondary Accessions:
    • Q8WUC6

    Protein attributes for MTRFR Gene

    Size:
    166 amino acids
    Molecular mass:
    18828 Da
    Quaternary structure:
    No Data Available
    Miscellaneous:
    • Knockdown of C12orf65 in Hela cells results in increased ROS production and apoptosis, leading to inhibition of cell proliferation.

    Alternative splice isoforms for MTRFR Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MTRFR Gene

Post-translational modifications for MTRFR Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for MTRFR Gene

Domains & Families for MTRFR Gene

Gene Families for MTRFR Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for MTRFR Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for MTRFR Gene

GenScript: Design optimal peptide antigens:
  • Probable peptide chain release factor C12orf65, mitochondrial (CL065_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9H3J6

UniProtKB/Swiss-Prot:

CL065_HUMAN :
  • The GGQ domain may interact with the peptidyltransferase center (PTC) of the large ribosomal subunit to trigger peptidyl-tRNA hydrolysis.
  • Belongs to the prokaryotic/mitochondrial release factor family.
Domain:
  • The GGQ domain may interact with the peptidyltransferase center (PTC) of the large ribosomal subunit to trigger peptidyl-tRNA hydrolysis.
Family:
  • Belongs to the prokaryotic/mitochondrial release factor family.
genes like me logo Genes that share domains with MTRFR: view

Function for MTRFR Gene

Molecular function for MTRFR Gene

UniProtKB/Swiss-Prot Function:
May act as a codon-independent translation release factor that has lost all stop codon specificity and directs the termination of translation in mitochondrion. May help rescuing stalled mitoribosomes during translation (By similarity).

Phenotypes From GWAS Catalog for MTRFR Gene

Gene Ontology (GO) - Molecular Function for MTRFR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003747 translation release factor activity IEA --
genes like me logo Genes that share ontologies with MTRFR: view
genes like me logo Genes that share phenotypes with MTRFR: view

Human Phenotype Ontology for MTRFR Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Inhibitory RNAs for research

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

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for MTRFR Gene

Localization for MTRFR Gene

Subcellular locations from UniProtKB/Swiss-Prot for MTRFR 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 MTRFR gene
Compartment Confidence
mitochondrion 5
nucleus 2
cytosol 2

Subcellular locations from the

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

Gene Ontology (GO) - Cellular Components for MTRFR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion NAS 20186120
GO:0005762 mitochondrial large ribosomal subunit IBA 21873635
genes like me logo Genes that share ontologies with MTRFR: view

Pathways & Interactions for MTRFR Gene

PathCards logo

SuperPathways for MTRFR Gene

No Data Available

Gene Ontology (GO) - Biological Process for MTRFR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006412 translation IEA --
GO:0006415 translational termination IEA --
genes like me logo Genes that share ontologies with MTRFR: view

No data available for Pathways by source and SIGNOR curated interactions for MTRFR Gene

Drugs & Compounds for MTRFR Gene

No Compound Related Data Available

Transcripts for MTRFR Gene

mRNA/cDNA for MTRFR Gene

3 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
10 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 MTRFR

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

No ASD Table

Relevant External Links for MTRFR Gene

GeneLoc Exon Structure for
MTRFR

Expression for MTRFR Gene

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

SOURCE GeneReport for Unigene cluster for MTRFR Gene:

Hs.319128

Evidence on tissue expression from TISSUES for MTRFR Gene

  • Nervous system(4.4)
  • Blood(4.3)
  • Intestine(4.2)
  • Lung(4.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for MTRFR Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • integumentary
  • nervous
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • cranial nerve
  • eye
  • eyelid
  • face
  • head
  • meninges
  • neck
Abdomen:
  • intestine
  • large intestine
  • small intestine
Limb:
  • foot
  • lower limb
  • thigh
General:
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal cord
No Expression Related Data Available

Primer products for research

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for MTRFR Gene

Orthologs for MTRFR Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for MTRFR Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia C12H12orf65 30
  • 99.4 (n)
C12orf65 31
  • 98 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia C26H12orf65 30
  • 82.73 (n)
C12orf65 31
  • 54 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia C17H12orf65 30
  • 82.22 (n)
C12orf65 31
  • 82 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia RGD1563482 30
  • 78.85 (n)
Mouse
(Mus musculus)
Mammalia 2810006K23Rik 30 17 31
  • 78.47 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia C12orf65 31
  • 65 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia C12orf65 31
  • 62 (a)
OneToOne
Chicken
(Gallus gallus)
Aves C15H12ORF65 30
  • 61.74 (n)
Lizard
(Anolis carolinensis)
Reptilia C12orf65 31
  • 51 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia LOC101734452 30
  • 66.92 (n)
Zebrafish
(Danio rerio)
Actinopterygii LOC100004452 30
  • 65.69 (n)
C12orf65 (1 of 2) 31
  • 56 (a)
OneToMany
C5H12orf65 (2 of 2) 31
  • 49 (a)
OneToMany
Fruit Fly
(Drosophila melanogaster)
Insecta CG30100 31
  • 40 (a)
OneToOne
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes -- 31
  • 26 (a)
OneToOne
-- 33
Species where no ortholog for MTRFR 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)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • 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)
  • 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)
  • Worm (Caenorhabditis elegans)

Evolution for MTRFR Gene

ENSEMBL:
Gene Tree for MTRFR (if available)
TreeFam:
Gene Tree for MTRFR (if available)

Paralogs for MTRFR Gene

No data available for Paralogs for MTRFR Gene

Variants for MTRFR Gene

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

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
635867 Pathogenic: Neurodevelopmental disorder 123,252,157(+) GATGCAGTGGCTCACG
NM_152269.5(MTRFR):c.-28-1489_283-968del
SPLICE_ACCEPTOR_VARIANT,SPLICE_DONOR_VARIANT,INITIATIOR_CODON
834522 Pathogenic: Spastic paraplegia; Combined oxidative phosphorylation deficiency 7 123,256,836(+) TC/T
NM_152269.5(MTRFR):c.307del (p.Gln103fs)
FRAMESHIFT
859045 Pathogenic: Spastic paraplegia; Combined oxidative phosphorylation deficiency 7 123,253,706(+) C/CA
NM_152269.5(MTRFR):c.33dup (p.Pro12fs)
FRAMESHIFT
881087 Uncertain Significance: Combined oxidative phosphorylation deficiency 7 123,257,016(+) T/G
NM_152269.5(MTRFR):c.486T>G (p.Ser162Arg)
MISSENSE
881088 Uncertain Significance: Combined oxidative phosphorylation deficiency 7 123,257,044(+) A/C
NM_152269.5(MTRFR):c.*13A>C
THREE_PRIME_UTR

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

Variant ID Type Subtype PubMed ID
esv2761773 CNV gain 21179565
esv28503 CNV loss 19812545
esv3581949 CNV gain 25503493
esv3630986 CNV loss 21293372
esv996114 CNV gain 20482838

Variation tolerance for MTRFR Gene

Residual Variation Intolerance Score: 49.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.26; 25.19% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MTRFR Gene

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

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

Disorders for MTRFR Gene

MalaCards: The human disease database

(29) MalaCards diseases for MTRFR Gene - From: OMI, CVR, GTR, ORP, COP, and GCD

UniProtKB/Swiss-Prot

CL065_HUMAN
  • Combined oxidative phosphorylation deficiency 7 (COXPD7) [MIM:613559]: A mitochondrial disease resulting in encephalomyopathy. Clinical manifestations include psychomotor delay and regression, ataxia, optic atrophy, nystagmus and muscle atrophy and weakness. {ECO:0000269 PubMed:20598281}. Note=The disease is caused by variants affecting the gene represented in this entry.
  • Spastic paraplegia 55, autosomal recessive (SPG55) [MIM:615035]: A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. Complicated forms are recognized by additional variable features including spastic quadriparesis, seizures, dementia, amyotrophy, extrapyramidal disturbance, cerebral or cerebellar atrophy, optic atrophy, and peripheral neuropathy, as well as by extra neurological manifestations. {ECO:0000269 PubMed:23188110}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for MTRFR

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

No data available for Genatlas for MTRFR Gene

Publications for MTRFR Gene

  1. A homozygous mutation of C12orf65 causes spastic paraplegia with optic atrophy and neuropathy (SPG55). (PMID: 23188110) Shimazaki H … Japan Spastic Paraplegia Research Consortium (JASPAC) (Journal of medical genetics 2012) 2 3 4 74
  2. Mutations in C12orf65 in patients with encephalomyopathy and a mitochondrial translation defect. (PMID: 20598281) Antonicka H … Shoubridge EA (American journal of human genetics 2010) 2 3 4 74
  3. Elongational stalling activates mitoribosome-associated quality control. (PMID: 33243891) Desai N … Ramakrishnan V (Science (New York, N.Y.) 2020) 2 3
  4. Rescuing stalled mammalian mitoribosomes - what can we learn from bacteria? (PMID: 31896602) Ayyub SA … Chrzanowska-Lightowlers ZM (Journal of cell science 2020) 2 3
  5. Behr's Syndrome is Typically Associated with Disturbed Mitochondrial Translation and Mutations in the C12orf65 Gene. (PMID: 26380172) Pyle A … Horvath R (Journal of neuromuscular diseases 2014) 2 3

No data available for Mastermind for MTRFR Gene

Products for MTRFR Gene

Sources for MTRFR Gene