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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

COA5 Gene

protein-coding   GIFtS: 38
GCID: GC02M099216

Cytochrome C Oxidase Assembly Factor 5

(Previous name: chromosome 2 open reading frame 64)
(Previous symbol: C2orf64)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Cytochrome C Oxidase Assembly Factor 51 2
C2orf641 2 3
Chromosome 2 Open Reading Frame 641
6330578E17Rik2
Pet1912
Protein C2orf642

External Ids:    HGNC: 338481   Entrez Gene: 4937532   Ensembl: ENSG000001835137   OMIM: 6139205   UniProtKB: Q86WW83   

Export aliases for COA5 gene to outside databases


(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 COA5 Gene:
This gene encodes an ortholog of yeast Pet191, which in yeast is a subunit of a large oligomeric complex
associated with the mitochondrial inner membrane, and required for the assembly of the cytochrome c oxidase
complex. Mutations in this gene are associated with mitochondrial complex IV deficiency, a disorder of the
mitochondrial respiratory chain with heterogeneous clinical manifestations, ranging from isolated myopathy to a
severe disease affecting several tissues and organs. (provided by RefSeq, Dec 2011)

GeneCards Summary for COA5 Gene: 
COA5 (cytochrome c oxidase assembly factor 5) is a protein-coding gene. Diseases associated with COA5 include mitochondrial cardiomyopathy, and hypotonia.

UniProtKB/Swiss-Prot: COA5_HUMAN, Q86WW8
Function: Involved in an early step of the mitochondrial complex IV assembly process




(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NC_018913.2  NT_022171.15  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for COA5
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCOA5 promoter sequence
   Search SABiosciences Chromatin IP Primers for COA5

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat COA5


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 2q11.2   Ensembl cytogenetic band:  2q11.2   HGNC cytogenetic band: 2q11.2

COA5 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
COA5 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M099216:  view genomic region     (about GC identifiers)

Start:
99,215,773 bp from pter      End:
99,224,978 bp from pter
Size:
9,206 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: COA5_HUMAN, Q86WW8 (See protein sequence)
Recommended Name: Cytochrome c oxidase assembly factor 5  
Size: 74 amino acids; 8376 Da

Explore the universe of human proteins at neXtProt for COA5: NX_Q86WW8

Explore proteomics data for COA5 at MOPED 

COA5 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

COA5 Protein Expression

REFSEQ proteins: NP_001008216.1  
ENSEMBL proteins: 
 ENSP00000330730   ENSP00000386934  

Human Recombinant Protein Products for COA5: 
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Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005739mitochondrion IEA--

COA5 for ontologies           About GeneDecksing



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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section
HGNC Gene Families: 
MITOAF: Mitochondrial respiratory chain complex assembly factors

1 InterPro protein domain:
 IPR018793 Cyt_c_oxidase_assmbl_Pet191

Graphical View of Domain Structure for InterPro Entry Q86WW8

ProtoNet protein and cluster: Q86WW8

UniProtKB/Swiss-Prot: COA5_HUMAN, Q86WW8
Similarity: Belongs to the PET191 family


COA5 for domains           About GeneDecksing


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
About This Section

Molecular Function:

     UniProtKB/Swiss-Prot Summary: COA5_HUMAN, Q86WW8
Function: Involved in an early step of the mitochondrial complex IV assembly process

Animal Models:

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SwitchGear 3'UTR luciferase reporter plasmidCOA5 3' UTR sequence
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(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, 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 Oct 2013 via Entrez Gene).
About This Section



Interactions:

    Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for COA5

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section
Browse Small Molecules at EMD Millipore
Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for COA5

Search CenterWatch for drugs/clinical trials and news about COA5

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
Conferences by KenesGroup, 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, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for COA5 gene: 
NM_001008215.2  

Unigene Cluster for COA5:

Cytochrome c oxidase assembly factor 5
Hs.596537  [show with all ESTs]
Unigene Representative Sequence: NM_001008215
5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000328709(uc002syz.3) ENST00000483527 ENST00000466848 ENST00000480666
ENST00000409997
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SwitchGear 3'UTR luciferase reporter plasmidCOA5 3' UTR sequence
Inhib. RNA
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  QIAGEN QuantiFast Probe-based Assays in human, mouse, rat COA5

Additional mRNA sequence: 

AK131034.1 BC047722.1 

12 DOTS entries:

DT.100774708  DT.452221  DT.120936108  DT.102833450  DT.91747459  DT.120936107  DT.40195808  DT.91747447 
DT.100773779  DT.100774707  DT.100773781  DT.97845731 

GeneLoc Exon Structure

5 Alternative Splicing Database (ASD) splice patterns (SP) for COA5    About this scheme

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b · 5c
SP1:                    -     -           -     -                     
SP2:                    -     -                                       
SP3:                          -           -     -                     
SP4:                          -                                       
SP5:                                      -     -                     


ECgene alternative splicing isoforms for COA5

(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

COA5 expression in normal human tissues (normalized intensities)      COA5 embryonic expression: see
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: GAAAACAACA
COA5 Expression
About this image


COA5 expression in embryonic tissues and stem cells    About this table
Data from LifeMap, the Embryonic Development and Stem Cells Database 
 5/6 selected tissues (see all 6) fully expand
 
 Brain (Nervous System)    fully expand to see all 6 entries
         ganglion/cranial/facial VII   
 
 Peripheral Nervous System (Nervous System)    fully expand to see all 4 entries
         autonomic/sympathetic/ganglion   
 
 Spinal Cord (Nervous System)
         spinal/ganglion/dorsal root ganglion   
 
 Heart (Cardiovascular System)
         heart/ventricle   
 
 Nose (Sensory Organs)
         sensory organ/nose/nasal cavity   

See COA5 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for COA5

SOURCE GeneReport for Unigene cluster: Hs.596537
    SABiosciences Custom PCR Arrays for COA5
Primer
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QIAGEN QuantiFast Probe-based Assays in human, mouse, rat COA5
In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for COA5

(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 COA5 gene from 4/9 species (see all 9)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Coa51 , 5 RIKEN cDNA 6330578E17 gene5
cytochrome C oxidase assembly factor 51
85.59(n)1
82.43(a)1
  1 (15.46 cM)5
761781  NM_198006.41  NP_932123.31 
 374170845 
chicken
(Gallus gallus)
Aves COA51 cytochrome C oxidase assembly factor 5 71.62(n)
70.27(a)
  769722  XM_001232441.2  XP_001232442.1 
zebrafish
(Danio rerio)
Actinopterygii coa51 cytochrome C oxidase assembly factor 5 67.12(n)
72.6(a)
  751633  NM_001161497.1  NP_001154969.1 
fruit fly
(Drosophila melanogaster)
Insecta CG130186
--
53(a)
1 ↔ 1
2R(10044555-10044984)


ENSEMBL Gene Tree for COA5 (if available)
TreeFam Gene Tree for COA5 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
Paralogs for COA5 gene

COA5 for paralogs           About GeneDecksing


1 Pseudogenes.org Pseudogene for COA5
PGOHUM00000244841


(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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

10/227 SNPs in COA5 are shown (see all 227)    About this table     
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 2 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
VAR_0654994
Mitochondrial complex IV deficiency (MT-C4D)4--see VAR_0654992 A P mis40--------
rs1507327171,2
C--98872615(+) GCATTA/TGTCAT 1 -- ds50010--------
rs1929728951,2
--98872616(+) CATTAG/TTCATA 1 -- ds50010--------
rs1390983141,2
--98872680(+) ATGTGA/GTGCAT 1 -- ds50010--------
rs1157594421,2
F--98872785(+) AGCCAG/CTCACA 1 -- ds50011Minor allele frequency- C:0.02NA 120
rs1498693981,2
--98872863(+) GCTAAC/TGGGTA 1 -- ds50010--------
rs1475684401,2
C--98872931(+) CTCTGC/TAGATA 1 -- ds50010--------
rs1155144711,2
C,F--98873052(+) ATATAC/TATTTT 1 -- ut311Minor allele frequency- T:0.03WA 118
rs1419898601,2
--98873089(+) AGTTAG/TATCAC 1 -- ut310--------
rs3769567401,2
C--98873096(+) ATCAC-/TAATATA 1 -- ut310--------

HapMap Linkage Disequilibrium report for COA5 (99215773 - 99224978 bp)

Structural Variations
      Database of Genomic Variants (DGV) variations for COA5: --
SABiosciences Cancer Mutation PCR Assays
Search QIAGEN SeqTarget long-range PCR primers for resequencing COA5
DNA2.0 Custom Variant and Variant Library Synthesis for COA5

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section
OMIM gene information: 613920    OMIM disorders: --

UniProtKB/Swiss-Prot: COA5_HUMAN, Q86WW8
  • Mitochondrial complex IV deficiency (MT-C4D) [MIM:220110]: A disorder of the mitochondrial respiratory
    chain with heterogeneous clinical manifestations, ranging from isolated myopathy to severe multisystem disease
    affecting several tissues and organs. Features include hypertrophic cardiomyopathy, hepatomegaly and liver
    dysfunction, hypotonia, muscle weakness, exercise intolerance, developmental delay, delayed motor development and
    mental retardation. Some affected individuals manifest a fatal hypertrophic cardiomyopathy resulting in neonatal
    death. A subset of patients manifest Leigh syndrome. Note=The disease is caused by mutations affecting the gene
    represented in this entry

  • 5 diseases for COA5:    About MalaCards
    mitochondrial cardiomyopathy    hypotonia    myopathy    hypertrophic cardiomyopathy
    mental retardation


    COA5 for disorders           About GeneDecksing


    Export disorders for COA5 gene to outside databases

    (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 COA5 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with COA5)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A mutation in C2orf64 causes impaired cytochrome c oxidase assembly and mitochondrial cardiomyopathy. (PubMed id 21457908)1, 2, 3 Huigsloot M.... Rodenburg R.J. (2011)
    2. 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 Szklarczyk R....Huynen M.A. (2012)
    3. Interactions of pathological hallmark proteins: tubul in polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (2011)
    4. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (2006)
    5. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)2 Hillier L.W....Wilson R.K. (2005)
    6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S....Malek J. (2004)
    7. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 493753 HGNC: 33848 Ensembl:ENSG00000183513 euGenes: HUgn493753 ECgene: COA5
    H-InvDB: COA5

    (According to HUGE)
    About This Section
      --

    (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
    NameDescription
    PharmGKB entry for COA5 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for COA5 gene:
    Search GeneIP for patents involving COA5

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (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, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, 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, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

     
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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    (GIFtS: 73)
    transforming growth factor, beta 1
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    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


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