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 C12orf65 Gene

Aliases for C12orf65 Gene

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

External Ids for C12orf65 Gene

Previous GeneCards Identifiers for C12orf65 Gene

  • GC12P122283
  • GC12P123717
  • GC12P120678

Summaries for C12orf65 Gene

Entrez Gene Summary for C12orf65 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 C12orf65 Gene

C12orf65 (Chromosome 12 Open Reading Frame 65) is a Protein Coding gene. Diseases associated with C12orf65 include Spastic Paraplegia 55, Autosomal Recessive and Combined Oxidative Phosphorylation Deficiency 7. Gene Ontology (GO) annotations related to this gene include translation release factor activity.

UniProtKB/Swiss-Prot Summary for C12orf65 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).

Additional gene information for C12orf65 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for C12orf65 Gene

Genomics for C12orf65 Gene

GeneHancer (GH) Regulatory Elements for C12orf65 Gene

Promoters and enhancers for C12orf65 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 C12orf65 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for C12orf65

Top Transcription factor binding sites by QIAGEN in the C12orf65 gene promoter:
  • FOXD3
  • FOXI1
  • GATA-1
  • GATA-3
  • HFH-3

Genomic Locations for C12orf65 Gene

Genomic Locations for C12orf65 Gene
chr12:123,233,297-123,257,960
(GRCh38/hg38)
Size:
24,664 bases
Orientation:
Plus strand
chr12:123,717,463-123,742,506
(GRCh37/hg19)
Size:
25,044 bases
Orientation:
Plus strand

Genomic View for C12orf65 Gene

Genes around C12orf65 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
C12orf65 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for C12orf65 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for C12orf65 Gene

Proteins for C12orf65 Gene

  • Protein details for C12orf65 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 C12orf65 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 C12orf65 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for C12orf65 Gene

Post-translational modifications for C12orf65 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for C12orf65 Gene

Domains & Families for C12orf65 Gene

Gene Families for C12orf65 Gene

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

Protein Domains for C12orf65 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for C12orf65 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 C12orf65: view

Function for C12orf65 Gene

Molecular function for C12orf65 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 C12orf65 Gene

Gene Ontology (GO) - Molecular Function for C12orf65 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 C12orf65: view
genes like me logo Genes that share phenotypes with C12orf65: view

Human Phenotype Ontology for C12orf65 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for C12orf65 Gene

Localization for C12orf65 Gene

Subcellular locations from UniProtKB/Swiss-Prot for C12orf65 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 C12orf65 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 C12orf65 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 C12orf65: view

Pathways & Interactions for C12orf65 Gene

PathCards logo

SuperPathways for C12orf65 Gene

No Data Available

Gene Ontology (GO) - Biological Process for C12orf65 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 C12orf65: view

No data available for Pathways by source and SIGNOR curated interactions for C12orf65 Gene

Drugs & Compounds for C12orf65 Gene

No Compound Related Data Available

Transcripts for C12orf65 Gene

mRNA/cDNA for C12orf65 Gene

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

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for C12orf65 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3a · 3b · 3c ^ 4a · 4b
SP1: - - -
SP2: - -
SP3: - -
SP4: - - - - -
SP5:

Relevant External Links for C12orf65 Gene

GeneLoc Exon Structure for
C12orf65

Expression for C12orf65 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for C12orf65 Gene

Protein differential expression in normal tissues from HIPED for C12orf65 Gene

This gene is overexpressed in Blymphocyte (39.7) and CD8 Tcells (29.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for C12orf65 Gene



Protein tissue co-expression partners for C12orf65 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for C12orf65

SOURCE GeneReport for Unigene cluster for C12orf65 Gene:

Hs.319128

Evidence on tissue expression from TISSUES for C12orf65 Gene

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

Phenotype-based relationships between genes and organs from Gene ORGANizer for C12orf65 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
genes like me logo Genes that share expression patterns with C12orf65: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for C12orf65 Gene

Orthologs for C12orf65 Gene

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

Orthologs for C12orf65 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 LOC100910427 30
  • 78.85 (n)
mouse
(Mus musculus)
Mammalia 2810006K23Rik 17 31 30
  • 78.47 (n)
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 C12orf65 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 squirt (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 C12orf65 Gene

ENSEMBL:
Gene Tree for C12orf65 (if available)
TreeFam:
Gene Tree for C12orf65 (if available)

Paralogs for C12orf65 Gene

No data available for Paralogs for C12orf65 Gene

Variants for C12orf65 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for C12orf65 Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
635867 Pathogenic: Neurodevelopmental disorder 123,252,157(+) GATGCAGTGGCTCACG SPLICE_ACCEPTOR_VARIANT,SPLICE_DONOR_VARIANT,INITIATIOR_CODON_VARIANT
645919 Uncertain Significance: Spastic paraplegia; Combined oxidative phosphorylation deficiency 7 123,256,949(+) A/G MISSENSE_VARIANT
662218 Uncertain Significance: Spastic paraplegia; Combined oxidative phosphorylation deficiency 7 123,256,856(+) G/A MISSENSE_VARIANT
671535 Benign: not provided 123,233,754(+) C/T FIVE_PRIME_UTR_VARIANT,INTRON_VARIANT
680559 Benign: not provided 123,253,386(+) G/T INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for C12orf65 Gene

Structural Variations from Database of Genomic Variants (DGV) for C12orf65 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 C12orf65 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 C12orf65 Gene

Human Gene Mutation Database (HGMD)
C12orf65
SNPedia medical, phenotypic, and genealogical associations of SNPs for
C12orf65

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for C12orf65 Gene

Disorders for C12orf65 Gene

MalaCards: The human disease database

(31) MalaCards diseases for C12orf65 Gene - From: OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

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 mutations 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 mutations affecting the gene represented in this entry.

Additional Disease Information for C12orf65

genes like me logo Genes that share disorders with C12orf65: view

No data available for Genatlas for C12orf65 Gene

Publications for C12orf65 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 54
  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 54
  3. 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 54
  4. Solution structure and siRNA-mediated knockdown analysis of the mitochondrial disease-related protein C12orf65. (PMID: 22821833) Kogure H … Nameki N (Proteins 2012) 3 4 54
  5. Evolution and diversification of the organellar release factor family. (PMID: 22688947) Duarte I … Huynen M (Molecular biology and evolution 2012) 2 3 54

Products for C12orf65 Gene

  • Biorbyt antibodies for C12orf65

Sources for C12orf65 Gene