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MTRFR (mitochondrial translation release factor in rescue)

Identity

Alias (NCBI)C12orf65
COXPD7
SPG55
HGNC (Hugo) MTRFR
HGNC Alias symbFLJ38663
SPG55
COXPD7
HGNC Previous nameC12orf65
HGNC Previous namechromosome 12 open reading frame 65
LocusID (NCBI) 91574
Atlas_Id 56463
Location 12q24.31  [Link to chromosome band 12q24]
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute



External links

 

Nomenclature
HGNC (Hugo)MTRFR   26784
Cards
Entrez_Gene (NCBI)MTRFR    mitochondrial translation release factor in rescue
AliasesC12orf65; COXPD7; SPG55
GeneCards (Weizmann)MTRFR
Ensembl hg19 (Hinxton)ENSG00000130921 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000130921 [Gene_View]  ENSG00000130921 [Sequence]  - [Contig_View]  MTRFR [Vega]
ICGC DataPortalENSG00000130921
TCGA cBioPortalMTRFR
AceView (NCBI)MTRFR
Genatlas (Paris)MTRFR
SOURCE (Princeton)MTRFR
Genetics Home Reference (NIH)MTRFR
Genomic and cartography
GoldenPath hg38 (UCSC)MTRFR  -  
GoldenPath hg19 (UCSC)MTRFR  -  
GoldenPathMTRFR - [CytoView hg19]  MTRFR - [CytoView hg38]
ImmunoBaseENSG00000130921
Genome Data Viewer NCBIMTRFR [Mapview hg19]  
OMIM613541   613559   615035   
Gene and transcription
Genbank (Entrez)AF061733 AK025908 AK095982 AK126043 BC018145
RefSeq transcript (Entrez)NM_001143905 NM_001194995 NM_152269
Consensus coding sequences : CCDS (NCBI)MTRFR
Gene ExpressionMTRFR [ NCBI-GEO ]   MTRFR [ EBI - ARRAY_EXPRESS ]   MTRFR [ SEEK ]   MTRFR [ MEM ]
Gene Expression Viewer (FireBrowse)MTRFR [ Firebrowse - Broad ]
GenevisibleExpression of MTRFR in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)91574
GTEX Portal (Tissue expression)MTRFR
Human Protein AtlasENSG00000130921-MTRFR [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9H3J6   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9H3J6  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9H3J6
PhosPhoSitePlusQ9H3J6
Domains : Interpro (EBI)Pep_chain_release_fac_I   
Domain families : Pfam (Sanger)RF-1 (PF00472)   
Domain families : Pfam (NCBI)pfam00472   
Conserved Domain (NCBI)MTRFR
SuperfamilyQ9H3J6
AlphaFold pdb e-kbQ9H3J6   
Human Protein Atlas [tissue]ENSG00000130921-MTRFR [tissue]
HPRD08791
Protein Interaction databases
DIP (DOE-UCLA)Q9H3J6
IntAct (EBI)Q9H3J6
BioGRIDMTRFR
STRING (EMBL)MTRFR
ZODIACMTRFR
Ontologies - Pathways
QuickGOQ9H3J6
Ontology : AmiGOtRNA binding  translation release factor activity  protein binding  mitochondrion  mitochondrion  mitochondrial large ribosomal subunit  translational termination  ribosomal large subunit binding  rescue of stalled ribosome  
Ontology : EGO-EBItRNA binding  translation release factor activity  protein binding  mitochondrion  mitochondrion  mitochondrial large ribosomal subunit  translational termination  ribosomal large subunit binding  rescue of stalled ribosome  
NDEx NetworkMTRFR
Atlas of Cancer Signalling NetworkMTRFR
Wikipedia pathwaysMTRFR
Orthology - Evolution
OrthoDB91574
GeneTree (enSembl)ENSG00000130921
Phylogenetic Trees/Animal Genes : TreeFamMTRFR
Homologs : HomoloGeneMTRFR
Homology/Alignments : Family Browser (UCSC)MTRFR
Gene fusions - Rearrangements
Fusion : QuiverMTRFR
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMTRFR [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MTRFR
dbVarMTRFR
ClinVarMTRFR
MonarchMTRFR
1000_GenomesMTRFR 
Exome Variant ServerMTRFR
GNOMAD BrowserENSG00000130921
Varsome BrowserMTRFR
ACMGMTRFR variants
VarityQ9H3J6
Genomic Variants (DGV)MTRFR [DGVbeta]
DECIPHERMTRFR [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisMTRFR 
Mutations
ICGC Data PortalMTRFR 
TCGA Data PortalMTRFR 
Broad Tumor PortalMTRFR
OASIS PortalMTRFR [ Somatic mutations - Copy number]
Mutations and Diseases : HGMDMTRFR
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaMTRFR
DgiDB (Drug Gene Interaction Database)MTRFR
DoCM (Curated mutations)MTRFR
CIViC (Clinical Interpretations of Variants in Cancer)MTRFR
Cancer3DMTRFR
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM613541    613559    615035   
Orphanet
DisGeNETMTRFR
MedgenMTRFR
Genetic Testing Registry MTRFR
NextProtQ9H3J6 [Medical]
GENETestsMTRFR
Target ValidationMTRFR
Huge Navigator MTRFR [HugePedia]
ClinGenMTRFR
Clinical trials, drugs, therapy
MyCancerGenomeMTRFR
Protein Interactions : CTDMTRFR
Pharm GKB GenePA162377963
PharosQ9H3J6
Clinical trialMTRFR
Miscellaneous
canSAR (ICR)MTRFR
HarmonizomeMTRFR
DataMed IndexMTRFR
Probes
Litterature
PubMed31 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXMTRFR
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Oct 4 15:21:34 CEST 2021

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