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

COX20 Gene

protein-coding   GIFtS: 41
GCID: GC01P245000

COX20 Cytochrome C Oxidase Assembly Factor

(Previous names: family with sequence similarity 36, member A, COX20 Cox2...)
(Previous symbol: FAM36A)
  See related disease
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
COX20 Cytochrome C Oxidase Assembly Factor1 2     COX20 Cox2 Chaperone Homolog2
FAM36A1 2 3     Cytochrome C Oxidase Protein 20 Homolog2
Family With Sequence Similarity 36, Member A1 2     Protein FAM36A2
COX20 Cox2 Chaperone Homolog (S. Cerevisiae)1     

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

GeneCards Summary for COX20 Gene: 
COX20 (COX20 cytochrome C oxidase assembly factor) is a protein-coding gene. Diseases associated with COX20 include intellectual disability.


(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_000001.10  NT_167186.1  NC_018912.2  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for COX20
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCOX20 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 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: 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

Explore proteomics data for COX20 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q5RI15

  • COX20 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    COX20 Protein Expression
    REFSEQ proteins: NP_932342.1  
    ENSEMBL proteins: 
     ENSP00000406327   ENSP00000355486  

    Human Recombinant Protein Products for COX20: 
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    Browse Proteins at Cloud-Clone Corp. 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion IDA--
    GO:0016021integral to membrane IEA--
    GO:0031966mitochondrial membrane IEA--

    COX20 for ontologies           About GeneDecksing



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    Browse CLIAs at Cloud-Clone Corp.


    (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

    2 InterPro protein domains:
     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


    COX20 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

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for COX20 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for COX20

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for COX20 
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    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for COX20


    (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 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
    InteractantInteraction Details
    GeneCardExternal ID(s)
    UBCENSP000003448184STRING: ENSP00000344818
    About this table

    (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 COX20

    Search CenterWatch for drugs/clinical trials and news about COX20

    (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 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
    miRNA
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    Inhib. RNA
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                         Customized lentivirus expression plasmids for stable overexpression of COX20 
    Primer
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    OriGene qPCR primer pairs and template standards for COX20
    OriGene qSTAR qPCR primer pairs in human, mouse for COX20
    Search SABiosciences RT2 qPCR Primer Assays in human, mouse, rat COX20
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat COX20
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat COX20

    Additional mRNA 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):

    BG027599 BQ428324 AL122072 CR592197 AA732463 BU738667 CK299501 CD677338 
    BQ636102 N74633 NM_198076 AA376905 BQ189361 AI554405 AI202330 AA600822 
    AA130186 AA287685 BQ009739 AL120115 BC064399 AA758443 AI090188 BI258748 

    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 <intensity>2/3
    CGAP TAG: TGCAATAAGC
    COX20 Expression
    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
    Primer
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    OriGene qPCR primer pairs and template standards for COX20
    OriGene qSTAR qPCR primer pairs in human, mouse for COX20
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    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat COX20
    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat COX20
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for COX20

    (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 5/11 species (see all 11)    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 A1, 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 COX206
    COX20 Cox2 chaperone homolog (S. cerevisiae)
    57(a)
    1 ↔ 1
    GL343285.1(1218326-1225062)
    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
    36(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, 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

    10/121 SNPs in COX20 are shown (see all 121)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1896290011,2
    --244996791(+) GCGCCC/TGTAAT 1 -- us2k10--------
    rs1808596331,2
    --244996944(+) ATAAAA/TCATCC 1 -- us2k10--------
    rs784014071,2
    C,F--244996949(+) TCATCC/TTTATG 1 -- us2k12Minor allele frequency- T:0.03WA NA 238
    rs1493687381,2
    C--244997015(+) TTTTC-/AAAGTCA 1 -- us2k10--------
    rs1843266541,2
    --244997098(+) ATCAAC/TAATGA 1 -- us2k10--------
    rs1439235081,2
    --244997205(+) GCAGAA/GAATCC 1 -- us2k10--------
    rs1158044761,2
    C,F--244997261(+) CTAGCA/TAACAG 1 -- us2k11Minor allele frequency- T:0.04WA 118
    rs1896372651,2
    --244997304(+) ACGGAC/GTTTCG 1 -- us2k10--------
    rs1472791701,2
    C--244997332(+) GAGTAC/GAGTGG 1 -- us2k10--------
    rs1812323351,2
    --244997532(+) CAGCCC/TCCAAA 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for COX20 (244998624 - 245008359 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for COX20: --

    Human Gene Mutation Database (HGMD): COX20
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing COX20
    DNA2.0 Custom Variant and Variant Library Synthesis for COX20

    (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: 614698    OMIM disorders: --

    2 diseases for COX20:    About MalaCards
    intellectual disability    


    COX20 for disorders           About GeneDecksing


    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 14):
    (articles sorted by number of sources associating them with COX20)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. 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)
    2. A mutation in the FAM36A gene, the human ortholog of C OX20, impairs cytochrome c oxidase assembly and is associated with ataxia and mu scle hypotonia. (PubMed id 23125284)1, 3 Szklarczyk R....van den Heuvel L.P. (2013)
    3. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (2006)
    4. 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)
    5. Systems-wide analysis of ubiquitylation dynamics reveals a key role for PAF15 ubiquitylation in DNA-damage bypass. (PubMed id 23000965)1 Povlsen L.K....Choudhary C. (2012)
    6. 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)
    7. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    8. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
    9. 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)
    10. Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1 Hendrickson S.L....O'Brien S.J. (2010)

    (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: 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
    NameDescription
    PharmGKB entry for COX20 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 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, 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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    Category
    (GIFtS: 73)
    transforming growth factor, beta 1
    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 


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