COX14 Gene
protein-coding GIFtS: 39
GCID: GC12P050509
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cytochrome c oxidase assembly homolog 14 (S. cerevisiae)(Previous names: chromosome 12 open reading frame 62, COX14 cytochrome c...)
(Previous symbol: C12orf62)
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Aliases
for COX14 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 14 (S. Cerevisiae)1 2 | | COX14 Cytochrome C Oxidase Assembly Homolog (S. Cerevisiae)1 | | C12orf621 2 3 | | COX14 Cytochrome C Oxidase Assembly Homolog2 | | MGC142881 | | Cytochrome C Oxidase Assembly Protein COX142 | | Chromosome 12 Open Reading Frame 621 | | |
Export aliases for COX14 gene to outside databases |
Summaries
for COX14 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 COX14:
This gene encodes a small single-pass transmembrane protein that localizes to mitochondria. This protein may play arole in coordinating the early steps of cytochrome c oxidase (COX; also known as complex IV) subunit assembly and, inparticular, the synthesis and assembly of the COX I subunit of the holoenzyme. Mutations in this gene have beenassociated with mitochondrial complex IV deficiency. Alternative splicing results in multiple transcript variants.(provided by RefSeq, Nov 2012)
UniProtKB/Swiss-Prot: COX14_HUMAN, Q96I36Function: Plays a role in the assembly or stability of the cytochrome c oxidase complex (COX). Requires forcoordination of the early steps of COX assembly with the synthesis of MT-CO1
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Genomic Views
for COX14 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_000012.11 NC_018923.1 NT_029419.12
Regulatory elements:
 Search SABiosciences Regulatory transcription factor binding sites for COX14
Other transcription factors
Search SABiosciences Chromatin IP Primers for COX14
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat COX14 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 12q13.12 Ensembl cytogenetic band: 12q13.12 HGNC cytogenetic band: 12q13.12COX14 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 12 GeneLoc Exon Structure GeneLoc location for GC12P050509: view genomic region
(about GC identifiers)
Start:
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50,505,762 bp from pter |
End:
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50,559,203 bp from pter |
Size:
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53,442 bases |
Orientation:
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plus strand |
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Proteins
for COX14 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: COX14_HUMAN, Q96I36 (See
protein sequence)Recommended Name: Cytochrome c oxidase assembly protein COX14 Size: 57 amino acids; 6600 Da
Subunit: Component of some MITRAC complex
Subcellular location: Mitochondrion membrane; Single-pass membrane protein
Secondary accessions: B2R5G6Explore the universe of human proteins at neXtProt for COX14: NX_Q96I36
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q96I36
COX14 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins (3 alternative transcripts):
NP_001244062.1 NP_001244063.1 NP_116290.1
ENSEMBL proteins: ENSP00000446524 ENSP00000326052 ENSP00000450331 ENSP00000447776
Human Recombinant Protein Products:
Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view): About this table
COX14 for ontologies About GeneDecksing
COX14 Antibody Products:
Assay Products for COX14: |
Protein
Domains /
Families
for COX14 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
| ProtoNet protein and cluster: Q96I36 |
Function
for COX14 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: COX14_HUMAN, Q96I36Function: Plays a role in the assembly or stability of the cytochrome c oxidase complex (COX). Requires forcoordination of the early steps of COX assembly with the synthesis of MT-CO1
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 COX14 (see all 2)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for COX14
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
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Synthesis Service for COX14 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat COX14 |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for COX14 |
|
Pathways & Interactions
for COX14 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 COX14
STRING Interaction
Network Preview (showing 3 interactants - click image to see more details)
3 Interacting proteins for COX14 (ENSP000003260524) via UniProtKB, MINT, STRING, and/or I2DAbout this table
Gene Ontology (GO): 1 biological process term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0033617 | mitochondrial respiratory chain complex IV assembly |
TAS | -- |
COX14 for ontologies About GeneDecksing
|
Drugs & Compounds
for COX14 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 COX14
Search CenterWatch for drugs/clinical trials and news about COX14
|
Transcripts
for COX14 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,
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 COX14 gene (3 alternative transcripts): NM_001257133.1 NM_001257134.1 NM_032901.3 Unigene Cluster for COX14: Cytochrome c oxidase assembly homolog 14 (S. cerevisiae) Hs.388645 [show with all ESTs]Unigene Representative Sequence: BI1167965 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000550487(uc001rwb.1) ENST00000317943 ENST00000548468 ENST00000550654
ENST00000548985
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for COX14 (see all 2)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for COX14
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript Custom all cDNA clones Services for COX14 | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for COX14 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat COX14 |
Additional cDNA sequence: AK312180.1 BC007849.2 11 DOTS entries: DT.446561 DT.95315693 DT.121183263 DT.95171855 DT.95171856 DT.100818480 DT.121183257 DT.97787084 DT.100818483 DT.91667377 DT.92043940 24/227 AceView cDNA sequences (see all 227): T25729 BC007849 AA588269 AJ346784 BM696534 NM_032901 CA405759 BU162058 BU731504 F36871 BM451907 BM667896 AI333959 AA313833 AA255455 F30199 CB135858 AI126978 AA235287 BQ920060 BM920325 AW008787 AA838682 AA303477
GeneLoc Exon Structure
4 Alternative Splicing Database (ASD) splice patterns (SP) for COX14 About this scheme
| ExUns: | 1a | · | 1b | · | 1c | · | 1d | · | 1e | ^ | 2 | ^ | 3 | ^ | 4a | · | 4b | · | 4c |
|---|
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| SP1: | | | | | | | | | - | | | | - | | | | | | | | |
| SP2: | | | | | | | | | - | | - | | | | | | | | | | |
| SP3: | | | | | | | | | - | | - | | - | | | | | | | | |
| SP4: | | | | | | | | | | | - | | - | | | | | | | |
ECgene alternative splicing isoforms for COX14
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Expression
for COX14 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
| COX14 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GTTTCTCTGG
About this image
See COX14 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for COX14
SOURCE GeneReport for Unigene cluster: Hs.388645
SABiosciences Custom PCR Arrays for COX14
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for COX14
Browse OriGene validated miRNA SYBR primer pairs
| | | Search SABiosciences RT2 qPCR
Primer Assays in human, mouse, rat COX14 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat COX14 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat COX14 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for COX14 |
Orthologs
for COX14 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
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This gene was present in the common ancestor of chordates.
Orthologs for COX14 gene from 4/8 species (see all 8) About this table
ENSEMBL Gene Tree for COX14 (if available)
TreeFam Gene Tree for COX14 (if available) |
Paralogs
for COX14 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| -- |
Genomic Variants
for COX14 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 12 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for COX14 (50505762 - 50559203 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for COX14: -- | SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing COX14 |
|
Disorders
/ Diseases
for COX14 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
|
COX14 for disorders About GeneDecksing
OMIM gene information: 614478
OMIM disorders: --
UniProtKB/Swiss-Prot: COX14_HUMAN, Q96I36
Note=Defects in COX14 may be a cause of a mitochondrial disorder presenting with severe congenital lacticacidosis and dysmorphic features associated with a COX assembly defect. Other features include brain hypertrophy,diffuse alteration of the white-matter myelination, and numerous cavities in the parieto-occipital region, brainstem,and cerebellum, as well as hepatomegaly, hypertrophic cardiomyopathy, renal hypoplasia, and adrenal-gland hyperplasia
2  diseases for COX14: About MalaCardslactic acidosis renal hypoplasia
Export disorders for COX14 gene to outside databases
|
Publications
for COX14 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 COX14 gene, integrated from 9 sources (see all 11):
(articles sorted by number of sources associating them with COX14) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Iterative orthology prediction uncovers new mitochond rial proteins and identifies C12orf62 as the human ortholog of COX14, a protein involved in the assembly of cytochrome c oxidase. (PubMed id 22356826)1, 2, 3 Szklarczyk R....Huynen M.A. (2012)
- Mutations in C12orf62, a factor that couples COX I sy nthesis with cytochrome c oxidase assembly, cause fatal neonatal lactic acidosi s. (PubMed id 22243966)1, 2, 3 Weraarpachai W....Shoubridge E.A. (2012)
- 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)
- MITRAC links mitochondrial protein translocation to respiratory-chain assembly and translational regulation. (PubMed id 23260140)2 Mick D.U.... Rehling P. (2012)
- Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
- Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1 Hendrickson S.L....O'Brien S.J. (2010)
- hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PubMed id 17207965)1 Lamesch P.... Vidal M. (2007)
- The finished DNA sequence of human chromosome 12. (PubMed id 16541075)2 Scherer S.E.... Gibbs R.A. (2006)
- Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions. (PubMed id 15342556)1 Suzuki Y.... Sugano S. (2004)
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (2004)
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External Searches for COX14 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
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Genome Databases showing COX14 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing COX14 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing COX14 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 COX14 | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for COX14 gene:
Search GeneIP for patents involving COX14
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for COX14 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, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, 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
About This Section
|
 | |
 | |
 |
| | |  | Browse OriGene Antibodies | | OriGene shRNA RFP for COX14 | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for COX14 | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for COX14 | | | OriGene Protein Over-expression Lysate for COX14 | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for COX14 | | OriGene 3'-UTR Clone for COX14 | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for COX14 | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for COX14 | | | 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 COX14 | | OriGene Custom Protein Services for COX14 | | | OriGene Custom Immunoassay Development | | |
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat COX14 | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing COX14 | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat COX14 | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat COX14 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat COX14 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat COX14 |
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| | | | Search Tocris compounds for COX14 |
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 | | | COX14 Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for COX14 |
|  |  |  | | | | Search ThermoFisher Antibodies for COX14 |
| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat COX14 |
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