COX18 Gene
protein-coding GIFtS: 43
GCID: GC04M073920
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|
cytochrome c oxidase assembly homolog 18 (yeast)(Previous name: COX18 cytochrome c oxidase assembly homolog (S. cerevisiae)...)
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Aliases
for COX18 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Cytochrome C Oxidase Assembly Homolog 18 (Yeast)1 2 | | Cox18Hs2 Protein2 | | Cytochrome C Oxidase Assembly Protein 182 3 | | Cox18Hs3 Protein2 | | FLJ389911 | | Mitochondrial COX182 | | COX18 Cytochrome C Oxidase Assembly Homolog (S. Cerevisiae)1 | | Mitochondrial Inner Membrane Protein COX182 | | COX18HS2 | | COX18Hs3 | | COX18 Cytochrome C Oxidase Assembly Homolog2 | | OXA1L23 | | Cox18Hs1 Protein2 | | |
Export aliases for COX18 gene to outside databasesPrevious GC identifers: GC04M074139 GC04M069726 |
Summaries
for COX18 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for COX18:
COX18 encodes a cytochrome c oxidase (COX)-assembly protein. The S. cerevisiae Cox18 protein catalyzes the insertion ofthe Cox2 (MTCO2; MIM 516040) C-terminal tail into the mitochondrial inner membrane, an intermediate step in theassembly of complex IV of the mitochondrial respiratory chain (Sacconi et al., 2005 (PubMed 16212937)).(supplied byOMIM, Mar 2008)
UniProtKB/Swiss-Prot: COX18_HUMAN, Q8N8Q8Function: Required for the insertion of integral membrane proteins into the mitochondrial inner membrane. Essential forthe activity and assembly of cytochrome c oxidase. Plays a central role in the translocation and export of theC-terminal part of the COX2 protein into the mitochondrial intermembrane space
|
Genomic Views
for COX18 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000004.11 NC_018915.1 NT_022778.16
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the COX18 gene promoter:
AhR AML1a CUTL1 LCR-F1 Ik-2 FOXO4 FOXO1a FOXO1 Hlf
Other transcription factors
Search SABiosciences Chromatin IP Primers for COX18
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat COX18 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 4q13.3 Ensembl cytogenetic band: 4q13.3 HGNC cytogenetic band: 4q13.3COX18 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 4 GeneLoc Exon Structure GeneLoc location for GC04M073920: view genomic region
(about GC identifiers)
Start:
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73,920,416 bp from pter |
End:
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73,935,472 bp from pter |
Size:
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15,057 bases |
Orientation:
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minus strand |
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Proteins
for COX18 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: COX18_HUMAN, Q8N8Q8 (See
protein sequence)Recommended Name: Mitochondrial inner membrane protein COX18 precursor Size: 333 amino acids; 37063 Da
Subcellular location: Mitochondrion inner membrane; Multi-pass membrane protein
Sequence caution: Sequence=AAH71812.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-Asequence;
Secondary accessions: Q2PB66 Q2PB67 Q2PB68 Q49B97 Q6IPP9Alternative splicing: 4 isoforms: Q8N8Q8-1 Q8N8Q8-2 Q8N8Q8-3 Q8N8Q8-4 (No experimental confirmation available)Explore the universe of human proteins at neXtProt for COX18: NX_Q8N8Q8
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q8N8Q8
COX18 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_776188.1
ENSEMBL proteins: ENSP00000295890 ENSP00000394583 ENSP00000425261 ENSP00000424978
Human Recombinant Protein Products for COX18:
Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view): About this table
COX18 for ontologies About GeneDecksing
COX18 Antibody Products:
Assay Products for COX18: |
Protein
Domains /
Families
for COX18 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
COX18 for domains About GeneDecksing
1 InterPro domain/family:Graphical View of Domain Structure for InterPro Entry Q8N8Q8ProtoNet protein and cluster: Q8N8Q8 UniProtKB/Swiss-Prot: COX18_HUMAN, Q8N8Q8Similarity: Belongs to the OXA1/ALB3/YidC family |
Function
for COX18 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
inGenious Targeting Laboratory,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase,
shRNA from
OriGene,
Sirion Biotech,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Sirion Biotech,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
Sirion Biotech,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Molecular Function:
UniProtKB/Swiss-Prot Summary: COX18_HUMAN, Q8N8Q8Function: Required for the insertion of integral membrane proteins into the mitochondrial inner membrane. Essential forthe activity and assembly of cytochrome c oxidase. Plays a central role in the translocation and export of theC-terminal part of the COX2 protein into the mitochondrial intermembrane space Gene Ontology (GO): 1 molecular function term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0008565 | protein transporter activity |
IGI | 16911509 |
COX18 for ontologies About GeneDecksing
Phenotypes:
2 GenomeRNAi human phenotypes for COX18:
Animal Models:
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for COX18 (see all 4)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for COX18
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: COX18 (NM_173827) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for COX18 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat COX18 |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for COX18 |
|
Pathways & Interactions
for COX18 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for COX18
Gene Ontology (GO): 4 biological process terms (GO ID links to tree view): About this table
COX18 for ontologies About GeneDecksing
|
Drugs & Compounds
for COX18 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
 Browse Tocris compounds for COX18
Search CenterWatch for drugs/clinical trials and news about COX18
|
Transcripts
for COX18 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
Sirion Biotech,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for COX18 gene (2 alternative transcripts): NM_001033760.1 NM_173827.2 Unigene Cluster for COX18: Cytochrome c oxidase assembly homolog 18 (yeast) Hs.356697 [show with all ESTs]Unigene Representative Sequence: NM_1738275 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000295890(uc003hgm.1 uc003hgn.1 uc011cbc.1) ENST00000449739(uc010iih.1)
ENST00000507544 ENST00000510031 ENST00000421792
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for COX18 (see all 4)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for COX18
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: COX18 (NM_173827) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for COX18 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat COX18 |
Additional cDNA sequence: AK092641.1 AK096310.2 AM055750.1 AM055751.1 AM055752.1 BC071812.1 BC101684.1 BC143642.1 6 DOTS entries: DT.314864 DT.95367294 DT.99945744 DT.99966529 DT.40190506 DT.100749764 24/86 AceView cDNA sequences (see all 86): BE047663 BX116684 AA449445 BG283902 BM804180 BE326447 T08528 AI024757 AA412740 BM668855 AW519319 AA938348 AI368777 BU619518 BC071812 N20674 AX747646 BE876497 BM693523 N29053 AI208464 BG530382 AK092641 BE898785
GeneLoc Exon Structure
3 Alternative Splicing Database (ASD) splice patterns (SP) for COX18 About this scheme
| ExUns: | 1a | · | 1b | · | 1c | ^ | 2 | ^ | 3a | · | 3b | ^ | 4 | ^ | 5a | · | 5b | ^ | 6 |
|---|
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| SP1: | | | | | | | | | | | | | | | | | | | | | |
| SP2: | | | | | | | | | | | | | | | | | | | | | |
| SP3: | | | | | | | | | | | | | | | | | | | | |
ECgene alternative splicing isoforms for COX18
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Expression
for COX18 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| COX18 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --
About this image
See COX18 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for COX18
SOURCE GeneReport for Unigene cluster: Hs.356697
SABiosciences Expression via Pathway-Focused PCR Array including COX18:
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for COX18
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat COX18 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat COX18 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat COX18 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for COX18 |
Orthologs
for COX18 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of animals.
Orthologs for COX18 gene from 7/26 species (see all 26) About this table
ENSEMBL Gene Tree for COX18 (if available)
TreeFam Gene Tree for COX18 (if available) |
Paralogs
for COX18 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for COX18 gene
- OXA1L2
COX18 for paralogs About GeneDecksing
|
Genomic Variants
for COX18 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 4 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for COX18 (73920416 - 73935472 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for COX18: -- | SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing COX18 |
|
Disorders
/ Diseases
for COX18 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
COX18 for disorders About GeneDecksing
OMIM gene information: 610428
OMIM disorders: --
1  disease for COX18: About MalaCardsosteoporosis
Human Genome Epidemiology (HuGE) Navigator: COX18 (4 documents)
Export disorders for COX18 gene to outside databases
|
Publications
for COX18 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for COX18 gene, integrated from 9 sources (see all 11):
(articles sorted by number of sources associating them with COX18) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- The COX18 gene, involved in mitochondrial biogenesis, is functionally conserved and tightly regulated in humans and fission yeast. (PubMed id 16911509)1, 2, 3, 9 Gaisne M. and Bonnefoy N. (2006)
- hCOX18 and hCOX19: two human genes involved in cytochrome c oxidase assembly. (PubMed id 16212937)1, 2, 3 Sacconi S....Salviati L. (2005)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
- Genome-wide association scan for survival on dialysis in African-Americans with type 2 diabetes. (PubMed id 21546767)1 Murea M....Freedman B.I. (2011)
- MicroRNA-related genetic variations as predictors for risk of second primary tumor and/or recurrence in patients with early-stage he ad and neck cancer. (PubMed id 20819778)1 Zhang X....Wu X. (2010)
- Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1 Rose J.E....Uhl G.R. (2010)
- Genome-wide pleiotropy of osteoporosis-related phenot ypes: The Framingham study. (PubMed id 20200953)1 Karasik D....Demissie S. (2010)
- Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1 Hendrickson S.L....O'Brien S.J. (2010)
- Mutation analysis of COX18 in 29 patients with isolat ed cytochrome c oxidase deficiency. (PubMed id 19373256)1 Sacconi S....Trevisson E. (2009)
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External Searches for COX18 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing COX18 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing COX18 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing COX18 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| Name | Description |
| PharmGKB entry for COX18 | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for COX18 gene:
Search GeneIP for patents involving COX18
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for COX18 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory)
About This Section
|
 | |
 | |
 |
| | |  | Browse OriGene Antibodies | | OriGene shRNA RFP for COX18 | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for COX18 | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for COX18 | | | OriGene Protein Over-expression Lysate for COX18 | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for COX18 | | Browse 3'-UTR reporter clones for miRNA target validation | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for COX18 | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for COX18 | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | Browse OriGene full length recombinant human proteins expressed in human HEK293 cells | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling | | | OriGene Custom Antibody Services for COX18 | | OriGene Custom Protein Services for COX18 | | | OriGene Custom Immunoassay Development | | |
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat COX18 | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing COX18 | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat COX18 | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat COX18 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat COX18 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat COX18 |
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| | | | Search Tocris compounds for COX18 |
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 | | | COX18 Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for COX18 |
|  |  |  |  | | | | Search ThermoFisher Antibodies for COX18 |
| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat COX18 |
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