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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
External Ids for C12orf65 Gene
- HGNC: 26784
- Entrez Gene: 91574
- Ensembl: ENSG00000130921
- OMIM: 613541
- UniProtKB: Q9H3J6
Previous GeneCards Identifiers for C12orf65 Gene
- GC12P122283
- GC12P123717
- GC12P120678
Summaries 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 Combined Oxidative Phosphorylation Deficiency 7 and Spastic Paraplegia 55, Autosomal Recessive. 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
- HGNC(26784)
- Entrez Gene(91574)
- Ensembl(ENSG00000130921)
- OMIM(613541)
- UniProtKB(Q9H3J6)
- Open Targets Platform(ENSG00000130921)
- Monarch Initiative
- Search for C12orf65 at DataMed
- Search for C12orf65 at HumanCyc
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 Pubs
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 the GeneHancer Hub at the UCSC Golden Path
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
- chr12:123,233,436-123,257,960
- (GRCh38/hg38)
- Size:
- 24,525 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:
-
- 12q24.31 by HGNC
- 12q24.31 by Entrez Gene
- 12q24.31 by Ensembl
C12orf65 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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.
Protein Expression for C12orf65 Gene
Post-translational modifications for C12orf65 Gene
Other Protein References for C12orf65 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
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-
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Protein Products
-
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- antibodies-online: Show 3 available C12orf65 Proteins ranked by validation data
- Compare Top C12orf65 Proteins
-
Quality Products:
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
Q9H3J6UniProtKB/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.
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
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003747 | translation release factor activity | IEA | -- |
Phenotypes for C12orf65 Gene
- GenomeRNAi human phenotypes for C12orf65:
Animal Model Products
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CRISPR Products
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-
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miRNA for C12orf65 Gene
- miRTarBase miRNAs that target C12orf65
-
- hsa-miR-130b-3p (MIRT020179)
- hsa-miR-215-5p (MIRT024748)
- hsa-miR-192-5p (MIRT026416)
- hsa-miR-331-3p (MIRT043547)
- hsa-miR-222-3p (MIRT046767)
- hsa-miR-5089-5p (MIRT685729)
- hsa-miR-5589-5p (MIRT685730)
- hsa-miR-4731-5p (MIRT685731)
- hsa-miR-6506-5p (MIRT685732)
- hsa-miR-619-5p (MIRT685733)
- hsa-miR-150-5p (MIRT685734)
- hsa-miR-186-3p (MIRT685735)
- hsa-miR-520h (MIRT685736)
- hsa-miR-520g-3p (MIRT685737)
- hsa-miR-6504-3p (MIRT685738)
- hsa-miR-512-3p (MIRT685739)
- hsa-miR-576-3p (MIRT685740)
- hsa-miR-5683 (MIRT685741)
- hsa-miR-520e (MIRT685742)
- hsa-miR-520d-3p (MIRT685743)
- hsa-miR-520c-3p (MIRT685744)
- hsa-miR-520b (MIRT685745)
- hsa-miR-520a-3p (MIRT685746)
- hsa-miR-373-3p (MIRT685747)
- hsa-miR-372-3p (MIRT685748)
- hsa-miR-302e (MIRT685749)
- hsa-miR-302d-3p (MIRT685750)
- hsa-miR-302c-3p (MIRT685751)
- hsa-miR-302b-3p (MIRT685752)
- hsa-miR-302a-3p (MIRT685753)
- hsa-miR-93-5p (MIRT685754)
- hsa-miR-526b-3p (MIRT685755)
- hsa-miR-519d-3p (MIRT685756)
- hsa-miR-20b-5p (MIRT685757)
- hsa-miR-20a-5p (MIRT685758)
- hsa-miR-17-5p (MIRT685759)
- hsa-miR-106b-5p (MIRT685760)
- hsa-miR-106a-5p (MIRT685761)
miRNA Products
Inhibitory RNA Products
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Clone Products
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Cell Line Products
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Horizon Cell Lines for C12orf65
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.
| Compartment | Confidence |
|---|---|
| mitochondrion | 5 |
| nucleus | 2 |
| cytosol | 2 |
- Cytosol (2)
- Mitochondria (2)
- Nucleoplasm (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005739 | mitochondrion | NAS | 20186120 |
| GO:0005762 | mitochondrial large ribosomal subunit | IBA | 21873635 |
Pathways & Interactions for C12orf65 Gene
Interacting Proteins for C12orf65 Gene
GPS-Prot Interaction Network for C12orf65
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006412 | translation | IEA | -- |
| GO:0006415 | translational termination | IEA | -- |
No data available for Pathways by source and SIGNOR curated interactions for C12orf65 Gene
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 :
-
- ENST00000253233 1554 nts (view in UCSC)
- ENST00000538888 727 nts (view in UCSC)
- ENST00000425637 1632 nts (view in UCSC)
- ENST00000536130 604 nts (view in UCSC)
- ENST00000546132 573 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for C12orf65 - Select products 50% OFF >
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-
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-
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miRNA Products
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Clone Products
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| 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
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
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for C12orf65
SOURCE GeneReport for Unigene cluster for C12orf65 Gene:
Hs.319128Evidence on tissue expression from TISSUES for C12orf65 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 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
Primer Products
-
OriGene qPCR primer pairs for C12orf65
-
OriGene qPCR primer pairs and template standards for C12orf65
Gene Expression Assay Products
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | C12H12orf65 30 |
|
||
| C12orf65 31 |
|
OneToOne | |||
| Dog (Canis familiaris) |
Mammalia | C26H12orf65 30 |
|
||
| C12orf65 31 |
|
OneToOne | |||
| Cow (Bos Taurus) |
Mammalia | C17H12orf65 30 |
|
||
| C12orf65 31 |
|
OneToOne | |||
| Rat (Rattus norvegicus) |
Mammalia | RGD1563482 30 |
|
||
| Mouse (Mus musculus) |
Mammalia | 2810006K23Rik 30 17 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | C12orf65 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | C12orf65 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | C15H12ORF65 30 |
|
||
| Lizard (Anolis carolinensis) |
Reptilia | C12orf65 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | LOC101734452 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | LOC100004452 30 |
|
||
| C12orf65 (1 of 2) 31 |
|
OneToMany | |||
| C5H12orf65 (2 of 2) 31 |
|
OneToMany | |||
| Fruit Fly (Drosophila melanogaster) |
Insecta | CG30100 31 |
|
OneToOne | |
| Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | -- 31 |
|
OneToOne | |
| -- 33 |
|
|
- Species where no ortholog for C12orf65 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)
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 |
| 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 |
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
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for C12orf65 Gene
Disorders for C12orf65 Gene
(28) MalaCards diseases for C12orf65 Gene - From: OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| combined oxidative phosphorylation deficiency 7 |
|
|
| spastic paraplegia 55, autosomal recessive |
|
|
| baker-gordon syndrome |
|
|
| behr syndrome |
|
|
| combined oxidative phosphorylation deficiency |
|
|
Search C12orf65 in MalaCards
View complete list of genes associated with diseases
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
No data available for Genatlas for C12orf65 Gene
Publications for C12orf65 Gene
- 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
- 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
- Rescuing stalled mammalian mitoribosomes - what can we learn from bacteria? (PMID: 31896602) Ayyub SA … Chrzanowska-Lightowlers ZM (Journal of cell science 2020) 2 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
- Solution structure and siRNA-mediated knockdown analysis of the mitochondrial disease-related protein C12orf65. (PMID: 22821833) Kogure H … Nameki N (Proteins 2012) 3 4
ExternalLinks
Products for C12orf65 Gene
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- Biorbyt antibodies for C12orf65
Sources for C12orf65 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
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- (33) SGD
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- (39) GenAtlas
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- (44) Atlas
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- (50) miRBase
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- (55) TGDB
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- (64) Proteopedia
- (65) MOPED
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- (67) Reactome
- (68) GeneGo (Thomson Reuters)
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- (70) SIMAP
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- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
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- (77) ESI-BIO
- (78) RefSeq
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- (80) MaxQB
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- (82) BioGPS
- (83) Illumina
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- (93) PathCards
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- (95) GeneTex
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- (97) GTEx
- (98) ProteomicsDB
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- (136) Human Protein Atlas
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- (139) DataMed
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- (143) Applied Biosystems
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- (148) RNACentral
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- (160) Synthego
- (161) ENA
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- (163) LncBase
- (164) LncBook
- (165) LNCipedia
- (166) Modomics
- (167) PDBe
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- (170) snOPY
- (171) SRPDB
- (172) GENCODE
- (173) TarBase
- (174) Signalway Antibody
- (175) Open Targets Platform
- (176) 5SRRNADB
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- (178) MirGeneDB