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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)

Explore 4 diseases affiliated with
COA5 via

MalaCards

our new
Human Malady Compendium

(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 Factor 5¹ ²		MGC52110¹
C2orf64¹ ² ³		Chromosome 2 Open Reading Frame 64¹
Pet191¹ ²		6330578E17Rik²
FLJ27524¹		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:

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)

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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000002.11 NC_018913.1 NT_022171.15

Regulatory elements:

Search SABiosciences Regulatory transcription factor binding sites for COA5
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: COA5 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 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: 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

COA5 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_001008216.1

ENSEMBL proteins:

ENSP00000330730 ENSP00000386934

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Gene Ontology (GO): 1 cellular component term (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005739	mitochondrion	IEA	--

COA5 for ontologies About GeneDecksing

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(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

COA5 for domains About GeneDecksing

1 InterPro domain/family:

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

(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: COA5_HUMAN, Q86WW8

Function: Involved in an early step of the mitochondrial complex IV assembly process

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(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 Central^TM Interacting Genes and Proteins Networks for COA5

(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

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Browse drugs & compounds from Enzo Life Sciences

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Search CenterWatch for drugs/clinical trials and news about COA5

(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,
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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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Additional cDNA 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)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GAAAACAACA

About this image

COA5 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

3 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Neural Tube

Spinal Neural Tube Cells

Neural Ectoderm

Eye

Retina

Eye

Spinal Cord

Presumptive Spinal Cord

Spinal Cord

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

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

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In Situ
Assay Products:

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(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 5/14 species (see all 14) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Coa5^{1 , 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	--	51(a)	1 ↔ 1	2R(10044555-10044984)
worm (Caenorhabditis elegans)	Secernentea	Y18D10A.16⁶	Protein Y18D10A.16	30(a)	1 ↔ 1	I(12903048-12904046)

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, 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

SNP ID	Valid	Clinical significance	Chr 2 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs75434845^1,2		--	92980746(+)	`AGTTGA/GAAACT`	1	--	ut3¹		0	--	--	--	--
rs113434430^1,2		--	92981017(+)	`GTCCAA/GTGCAA`	1	--	ut3¹		2		CSA WA	120
rs113077225^1,2	F,	--	92981426(+)	`TCTGGT/ATAGGC`	1	--	ut3¹		2		CSA	5
rs11537556^1,2	C,H	--	92981732(+)	`TTCCTG/TTTTTG`	1	--	ut3¹ ese³		2		NS NA	182
rs17034149^1,2	C,F,H,	--	92983070(+)	`AGACAG/AACCCT`	1	--	int¹		9		NA NS	1026
rs78429992^1,2		--	92983260(+)	`ACTCAC/TTTTAA`	1	--	int¹		1		NA	120
rs111882710^1,2		--	92984616(+)	`TTTTAC/TACATT`	1	--	int¹		1		CSA	2
rs13413991^1,2	C	--	92984801(+)	`ACAAAT/GGTATA`	1	--	int¹		1		NA	2
rs11890366^1,2	C,H,	--	92984999(+)	`ATGAAC/TGCTAC`	1	--	int¹		2		NA WA	122
rs17034163^1,2	C,F,	--	92985481(+)	`TCTATT/CGGATA`	1	--	int¹		6		NA CSA WA	260

HapMap Linkage Disequilibrium report for COA5 (99215773 - 99224978 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for COA5: --

SABiosciences Cancer Mutation PCR Assays

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(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

COA5 for disorders About GeneDecksing

OMIM gene information: 613920 OMIM disorders: --

UniProtKB/Swiss-Prot: COA5_HUMAN, Q86WW8

Defects in COA5 are the cause of 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

4 diseases for COA5: About MalaCards

myopathy mitochondrial cardiomyopathy cardiomyopathy hypotonia

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

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)
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)
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)
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)
Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)² Hillier L.W....Wilson R.K. (2005)
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)
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

		AND	OR
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

Name	Description
PharmGKB entry for COA5	Pharmacogenomics, SNPs, Pathways

Intellectual Property for COA5 gene
(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, 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),
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About This Section


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Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat COA5

GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 27 Apr 2013

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Category			VWF (GIFTS: 73) von Willebrand factor
GIFtS Group

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

The GeneCards Human Gene Database

Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

Hot genes Disease genes COA5 gene at Home site.

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COA5 Gene

cytochrome c oxidase assembly factor 5

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COA5 Gene

cytochrome c oxidase assembly factor 5

Aliasesfor COA5 gene

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Genomic Viewsfor COA5 gene

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Protein Domains /Familiesfor COA5 gene

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for COA5 gene

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for COA5 gene

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for COA5 gene

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for COA5 gene

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for COA5 gene

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for COA5 gene

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