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. GO annotations related to this gene include translation release factor activity.
UniProtKB/Swiss-Prot 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).
No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for C12orf65 Gene
Genomics for C12orf65 Gene
Regulatory Elements for C12orf65 Gene
Enhancers for C12orf65 Gene
- Elite enhancer and/or Elite enhancer-gene association
Download GeneHancer data dump
Enhancers around C12orf65 on UCSC Golden Path with GeneCards custom track
- Transcription factor binding sites by QIAGEN in the C12orf65 gene promoter:
Regulatory Element Products
Genomic Location for C12orf65 Gene
- Chromosome:
- 12
- Start:
- 123,232,916 bp from pter
- End:
- 123,257,959 bp from pter
- 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 Ensembl
- 12q24.31 by Entrez Gene
- 12q24.31 by HGNC
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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-
Abcam antibodies for C12orf65
- Invitrogen Antibodies for C12orf65
- antibodies-online Antibodies for C12orf65: See all 5
- Search GeneTex for Antibodies for C12orf65
Protein Products
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- antibodies-online Proteins for C12orf65: See all 4
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- Search GeneTex for Proteins for C12orf65
-
Abcam proteins for C12orf65
Assay Products
No data available for DME Specific Peptides for C12orf65 Gene
Domains & Families for C12orf65 Gene
Protein Domains for C12orf65 Gene
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for C12orf65 Gene
- GenScript: Design optimal peptide antigens:
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.
No data available for Gene Families for C12orf65 Gene
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).
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003747 | translation release factor activity | IEA | -- |
Phenotypes for C12orf65 Gene
Animal Model Products
-
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-
-
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-
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CRISPR Products
-
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-
Santa Cruz Biotechnology (SCBT) CRISPR for C12orf65
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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
- Search ViGene Biosciences for C12orf65
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-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Cell Line Products
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Horizon Cell Lines for C12orf65
-
ViGene Biosciences adenoviral particle packaged cDNA for C12orf65 gene
-
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Flow Cytometry 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.
| Compartment | Confidence |
|---|---|
| mitochondrion | 5 |
| nucleus | 2 |
| cytosol | 2 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005739 | mitochondrion | NAS | 20186120 |
Pathways & Interactions for C12orf65 Gene
No Data Available
Interacting Proteins for C12orf65 Gene
| 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
- (5) REFSEQ mRNAs :
- (5) Additional mRNA sequences :
- (151) Selected AceView cDNA sequences:
- (8) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for C12orf65 Gene
CRISPR Products
-
OriGene CRISPR knockouts for C12orf65
-
Santa Cruz Biotechnology (SCBT) CRISPR for C12orf65
- GenScript: Design CRISPR guide RNA sequences for C12orf65
miRNA Products
- Search ViGene Biosciences for C12orf65
Inhibitory RNA Products
- Origene RNAi, siRNA, and shRNA products in human, mouse, rat for C12orf65
- Browse OriGene Inhibitory RNA Products For C12orf65
-
ViGene Biosciences ready-to-package AAV shRNAs for C12orf65 gene
Clone Products
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for C12orf65
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for C12orf65
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Flow Cytometry Products
| ExUns: | 1a | · | 1b | · | 1c | ^ | 2a | · | 2b | ^ | 3a | · | 3b | · | 3c | ^ | 4a | · | 4b |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | ||||||||||||||||
| SP2: | - | - | |||||||||||||||||
| SP3: | - | - | |||||||||||||||||
| SP4: | - | - | - | - | - | ||||||||||||||
| SP5: |
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, PaxDb, and MOPED for C12orf65 Gene
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of C12orf65 Gene:
C12orf65SOURCE GeneReport for Unigene cluster for C12orf65 Gene:
Hs.319128Evidence 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
Organs:
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
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 34 |
|
||
| C12orf65 35 |
|
OneToOne | |||
| dog (Canis familiaris) |
Mammalia | C26H12orf65 34 |
|
||
| C12orf65 35 |
|
OneToOne | |||
| cow (Bos Taurus) |
Mammalia | C17H12orf65 34 |
|
||
| C12orf65 35 |
|
OneToOne | |||
| rat (Rattus norvegicus) |
Mammalia | RGD1563482 34 |
|
||
| mouse (Mus musculus) |
Mammalia | 2810006K23Rik 34 16 35 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | C12orf65 35 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | C12orf65 35 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | C15H12ORF65 34 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | C12orf65 35 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | LOC101734452 34 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | LOC100004452 34 |
|
||
| C12orf65 (1 of 2) 35 |
|
OneToMany | |||
| C5H12orf65 (2 of 2) 35 |
|
OneToMany | |||
| fruit fly (Drosophila melanogaster) |
Insecta | CG30100 35 |
|
OneToOne | |
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | -- 35 |
|
OneToOne | |
| -- 37 |
|
|
- 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)
Paralogs for C12orf65 Gene
No data available for Paralogs for C12orf65 Gene
Variants for C12orf65 Gene
| SNP ID | Clin | Chr 12 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs397514539 | Pathogenic | 123,256,924(+) | AAAAA(C/T)GAGAA | reference, stop-gained | |
| rs398122365 | Pathogenic | 123,256,945(+) | AAAAA(C/T)AAGAA | reference, stop-gained | |
| rs398122972 | Pathogenic | 123,256,876(+) | AGAAA(-/G)TAGAT | reference, frameshift-variant | |
| rs576462794 | Pathogenic | 123,253,884(+) | GGTCC(-/A)GGGGG | reference, frameshift-variant | |
| rs587776508 | Pathogenic | 123,253,922(+) | CGTGG(-/T)GCTGA | reference, frameshift-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)
Relevant External Links for C12orf65 Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for C12orf65 Gene
Disorders for C12orf65 Gene
(17) MalaCards diseases for C12orf65 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| combined oxidative phosphorylation deficiency 7 |
|
|
| spastic paraplegia 55, autosomal recessive |
|
|
| behr syndrome |
|
|
| spastic paraplegia 55 |
|
|
| leigh-like syndrome |
|
|
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.
Relevant External Links for C12orf65
- Atlas of Genetics and Cytogenetics in Oncology and Haematology:
- 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. … Nakano I. (J. Med. Genet. 2012) 2 3 4 64
- Mutations in C12orf65 in patients with encephalomyopathy and a mitochondrial translation defect. (PMID: 20598281) Antonicka H. … Shoubridge E.A. (Am. J. Hum. Genet. 2010) 2 3 4 64
- Evolution and diversification of the organellar release factor family. (PMID: 22688947) Duarte I. … Huynen M. (Mol. Biol. Evol. 2012) 2 3 64
- Solution structure and siRNA-mediated knockdown analysis of the mitochondrial disease-related protein C12orf65. (PMID: 22821833) Kogure H. … Nameki N. (Proteins 2012) 3 4 64
- A functional peptidyl-tRNA hydrolase, ICT1, has been recruited into the human mitochondrial ribosome. (PMID: 20186120) Richter R. … Chrzanowska-Lightowlers Z.M. (EMBO J. 2010) 3 4 64
Products for C12orf65 Gene
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- Humanized Mice
- antibodies-online Antibodies for C12orf65: See all 5
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- ViGene Biosciences adenoviral particle packaged cDNA for C12orf65 gene
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- Horizon Cell Lines for C12orf65
- Cyagen custom Knockout/knockin (KOKI) mouse models for C12orf65
- VectorBuilder custom plasmid, inducible vectors for C12orf65
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for C12orf65
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Sources for C12orf65 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) RNAdb
- (29) ASD
- (30) ECgene
- (31) GeneAnnot
- (32) CGAP SAGE
- (33) SOURCE
- (34) HomoloGene
- (35) PanEnsembl
- (36) euGenes
- (37) SGD
- (38) FlyBase
- (39) WormBase
- (40) Pseudogene
- (41) DGV
- (42) dbSNP
- (43) GenAtlas
- (44) GeneTests
- (45) HGMD
- (46) GAD
- (47) LSDB
- (48) BGMUT
- (49) HuGE
- (50) eBioscience
- (51) Atlas
- (52) Cell Signaling Technology
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