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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

COX20 Gene

protein-coding GIFtS: 39
GCID: GC01P245000

COX20 Cox2 chaperone homolog (S. cerevisiae)

(Previous names: family with sequence similarity 36, member A )
(Previous symbol: FAM36A)

Search for COX20
in

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
COX20 Cox2 Chaperone Homolog (S. Cerevisiae)¹ ²
FAM36A¹ ² ³
Family With Sequence Similarity 36, Member A¹ ²
FLJ43269¹
Cytochrome C Oxidase Protein 20 Homolog²
Protein FAM36A²

External Ids:	HGNC: 26970¹	Entrez Gene: 116228²	Ensembl: ENSG00000203667⁷	OMIM: 614698⁵	UniProtKB: Q5RI15³

Export aliases for COX20 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

(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_000001.10 NC_018912.1 NT_167186.1

Regulatory elements:

Search SABiosciences Regulatory transcription factor binding sites for COX20
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: COX20 promoter sequence

Search SABiosciences Chromatin IP Primers for COX20

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat COX20

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

Entrez Gene cytogenetic band: 1q44 Ensembl cytogenetic band: 1q44 HGNC cytogenetic band: 1q44

COX20 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
COX20 gene location

GeneLoc information about chromosome 1 GeneLoc Exon Structure

GeneLoc location for GC01P245000: view genomic region (about GC identifiers)

Start:	244,998,624 bp from pter	End:	245,008,359 bp from pter
Size:	9,736 bases	Orientation:	plus 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: COX20_HUMAN, Q5RI15 (See protein sequence)

Recommended Name: Cytochrome c oxidase protein 20 homolog

Size: 118 amino acids; 13291 Da

Subcellular location: Mitochondrion membrane; Multi-pass membrane protein (Potential)

Secondary accessions: Q8WV86

Alternative splicing: 2 isoforms: Q5RI15-1 Q5RI15-2 (Gene prediction confirmed by EST data)

Explore the universe of human proteins at neXtProt for COX20: NX_Q5RI15

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q5RI15

COX20 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_932342.1

ENSEMBL proteins:

ENSP00000406327 ENSP00000355486

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	Uscn Proteins for COX20

Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005739	mitochondrion	IDA	--
GO:0016021	integral to membrane	IEA	--
GO:0031966	mitochondrial membrane	IEA	--

COX20 for ontologies About GeneDecksing

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	Uscn ELISAs and CLIAs for COX20

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

COX20 for domains About GeneDecksing

2 InterPro domains/families:

IPR022533 Cox20/FAM36A

IPR023242 FAM36A

Graphical View of Domain Structure for InterPro Entry Q5RI15

ProtoNet protein and cluster: Q5RI15

UniProtKB/Swiss-Prot: COX20_HUMAN, Q5RI15

Similarity: Belongs to the COX20 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

miRNA Products:		OriGene 3'-UTR Clone: COX20 Browse MicroRNA Expression Plasmids
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In Situ Assay
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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 COX20

STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

1 Interacting protein for COX20 (ENSP00000406327⁴) via UniProtKB, MINT, STRING, and/or I2D

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
UBC	ENSP00000344818⁴	STRING: ENSP00000344818

About this table

(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 Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for COX20
Search CenterWatch for drugs/clinical trials and news about COX20

(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,
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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 COX20 gene:

NM_198076.4

Unigene Cluster for COX20:

COX20 Cox2 chaperone homolog (S. cerevisiae)

Hs.411490 [show with all ESTs]

Unigene Representative Sequence: NM_198076

5 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000411948(uc001iar.3 uc001ias.3 uc001iat.3) ENST00000366528

ENST00000391839 ENST00000498262 ENST00000464757

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Additional cDNA sequence:

AF086182.1 AK000866.1 AK054764.1 AK125259.1 AK130498.1 AK300760.1 AL122072.1 BC018519.1

BC062419.1 BC064399.1 BC095486.1

24/27 DOTS entries (see all 27):

DT.113374 DT.101985133 DT.100825637 DT.87015863 DT.99975590 DT.95214998 DT.100825636 DT.121445583

DT.91640722 DT.95315522 DT.92416950 DT.121445647 DT.91674190 DT.92004008 DT.97846192 DT.99944880

DT.99995020 DT.121238954 DT.121445586 DT.121445619 DT.91721453 DT.91749453 DT.91913730 DT.100825631

24/232 AceView cDNA sequences (see all 232):

N74633 AA643904 BU509037 CB853753 AA236077 AF086182 AA339002 BC064399

AI674156 BG027599 BQ009739 AI375654 AA600822 AI554405 AI140960 NM_198076

BC062419 CR592197 AI627303 BC018519 BI325004 BQ189361 BM459951 BM771904

GeneLoc Exon Structure

(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

COX20 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TGCAATAAGC

About this image
See COX20 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for COX20

SOURCE GeneReport for Unigene cluster: Hs.411490

SABiosciences Custom PCR Arrays for COX20

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In Situ
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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 COX20 gene from 5/15 species (see all 15) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Cox20⁵ Fam36a¹	family with sequence similarity 36, member A^{1, 5}	82.34(n)¹ 81.2(a)¹		1 (83.16 cM)⁵ 66359¹ NM_025511.2¹ NP_079787.1¹ 178319130⁵
chicken (Gallus gallus)	Aves	COX20¹	COX20 Cox2 chaperone homolog (S. cerevisiae)	68.83(n) 62.04(a)		421493 XM_419540.3 XP_419540.2
lizard (Anolis carolinensis)	Reptilia	FAM36A⁶	--	68(a)	1 ↔ 1	GL343285.1(1221280-1222106)
zebrafish (Danio rerio)	Actinopterygii	zgc:92598¹	zgc:92598	57.58(n) 60.61(a)		436985 NM_001002712.1 NP_001002712.1
fruit fly (Drosophila melanogaster)	Insecta	l(3)87Df⁶	lethal (3) 87Df	38(a)	1 ↔ 1	3R(8856664-8857317)

ENSEMBL Gene Tree for COX20 (if available)
TreeFam Gene Tree for COX20 (if available)

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

Paralogs for COX20 gene

1 SIMAP similar gene for COX20 using alignment to 1 protein entry: COX20_HUMAN:

FAM36A

COX20 for paralogs About GeneDecksing

2 Pseudogenes.org Pseudogenes for COX20
PGOHUM00000237182 PGOHUM00000241133

(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 1 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs189629001^1,2		--	244996791(+)	`GCGCCC/TGTAAT`	1	--	us2k¹		0	--	--	--	--
rs180859633^1,2		--	244996944(+)	`ATAAAA/TCATCC`	1	--	us2k¹		0	--	--	--	--
rs78401407^1,2	F,	--	244996949(+)	`TCATCC/TTTATG`	1	--	us2k¹		2		WA NA	238
rs150020147^1,2		--	244997015(+)	`TTTTC-/AAAGTCA`	1	--	us2k¹		0	--	--	--	--
rs184326654^1,2		--	244997098(+)	`ATCAAC/TAATGA`	1	--	us2k¹		0	--	--	--	--
rs143923508^1,2		--	244997205(+)	`GCAGAA/GAATCC`	1	--	us2k¹		0	--	--	--	--
rs115804476^1,2	C,F,	--	244997261(+)	`CTAGCA/TAACAG`	1	--	us2k¹		1		WA	118
rs189637265^1,2		--	244997304(+)	`ACGGAC/GTTTCG`	1	--	us2k¹		0	--	--	--	--
rs147279170^1,2		--	244997332(+)	`GAGTAC/GAGTGG`	1	--	us2k¹		0	--	--	--	--
rs181232335^1,2		--	244997532(+)	`CAGCCC/TCCAAA`	1	--	us2k¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for COX20 (244998624 - 245008359 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for COX20: --

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

COX20 for disorders About MalaCards

COX20 for disorders About GeneDecksing

OMIM gene information: 614698 OMIM disorders: --

Export disorders for COX20 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 COX20 gene, integrated from 9 sources (see all 12):
(articles sorted by number of sources associating them with COX20)

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)
The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)^{1, 2} Gregory S.G.... Bentley D.R. (2006)
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)
Molecular characterization of 1q44 microdeletion in 11 patients reveals three candidate genes for intellectual disability and seizures . (PubMed id 22678713)¹ Thierry G....Le Caignec C. (2012)
Initial characterization of the human central proteome. (PubMed id 21269460)² Burkard T.R.... Colinge J. (2011)
Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)¹ Danielsen J.M....Nielsen M.L. (2011)
A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)¹ Wagner S.A....Choudhary C. (2011)
Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)¹ Hendrickson S.L....O'Brien S.J. (2010)
Toward a confocal subcellular atlas of the human proteome. (PubMed id 18029348)¹ Barbe L....Andersson-Svahn H. (2008)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)¹ Ota T.... Sugano S. (2004)

(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: 116228	HGNC: 26970	AceView: FAM36A	Ensembl:ENSG00000203667	euGenes: HUgn116228
ECgene: COX20	H-InvDB: COX20

(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 COX20	Pharmacogenomics, SNPs, Pathways

Intellectual Property for COX20 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for COX20 gene:
Search GeneIP for patents involving COX20

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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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 COX20 gene at Home site.

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COX20 Gene

COX20 Cox2 chaperone homolog (S. cerevisiae)

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Export list of displayed genes

COX20 Gene

COX20 Cox2 chaperone homolog (S. cerevisiae)

Aliasesfor COX20 gene

Summariesfor COX20 gene

Genomic Viewsfor COX20 gene

Proteinsfor COX20 gene

Protein Domains /Familiesfor COX20 gene

Functionfor COX20 gene

Pathways & Interactionsfor COX20 gene

Drugs & Compoundsfor COX20 gene

Transcriptsfor COX20 gene

Expression for COX20 gene

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Genome Databases showing COX20 gene

Other Databases showing COX20 gene

Specialized Databases showing COX20 gene

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Aliases
for COX20 gene

Summaries
for COX20 gene

Genomic Views
for COX20 gene

Proteins
for COX20 gene

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Families
for COX20 gene

Function
for COX20 gene

Pathways & Interactions
for COX20 gene

Drugs & Compounds
for COX20 gene

Transcripts
for COX20 gene

Expression
for COX20 gene

Orthologs
for COX20 gene

Paralogs
for COX20 gene

Genomic Variants
for COX20 gene

Disorders / Diseases
for COX20 gene

Publications
for COX20 gene

Intellectual Property
for COX20 gene

Products
for COX20 gene