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COX7A2L Gene

protein-coding   GIFtS: 62
GCID: GC02M042489

Cytochrome C Oxidase Subunit VIIa Polypeptide 2 Like

  See COX7A2L-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)
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This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Cytochrome C Oxidase Subunit VIIa Polypeptide 2 Like1 2     COX7a-Related Protein2 3
COX7RP2 3 5     SIG812
EB12 3 5     Cytochrome C Oxidase Subunit 7A-Related Protein, Mitochondrial2
Cytochrome C Oxidase Subunit VIIa-Related Protein2 3     Cytochrome C Oxidase Subunit VII-Related Protein2
COX7AR2 3     Estrogen Receptor Binding CpG Island2

External Ids:    HGNC: 22891   Entrez Gene: 91672   Ensembl: ENSG000001159447   OMIM: 6057715   UniProtKB: O145483   
ORGUL members:         

Export aliases for COX7A2L gene to outside databases

Previous GC identifers: GC02M042566 GC02M042746 GC02M042552 GC02M042312


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for COX7A2L Gene:
Cytochrome c oxidase (COX), the terminal component of the mitochondrial respiratory chain, catalyzes the electron
transfer from reduced cytochrome c to oxygen. This component is a heteromeric complex consisting of 3 catalytic
subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The
mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may function in
the regulation and assembly of the complex. This nuclear gene encodes a protein similar to polypeptides 1 and 2
of subunit VIIa in the C-terminal region, and also highly similar to the mouse Sig81 protein sequence. This gene
is expressed in all tissues, and upregulated in a breast cancer cell line after estrogen treatment. It is
possible that this gene represents a regulatory subunit of COX and mediates the higher level of energy production
in target cells by estrogen. (provided by RefSeq, Jul 2008)

GeneCards Summary for COX7A2L Gene:
COX7A2L (cytochrome c oxidase subunit VIIa polypeptide 2 like) is a protein-coding gene. Diseases associated with COX7A2L include leigh disease, and breast cancer. GO annotations related to this gene include electron carrier activity and cytochrome-c oxidase activity. An important paralog of this gene is COX7A1.

UniProtKB/Swiss-Prot: COX7R_HUMAN, O14548
Function: May be a regulatory subunit of cytochrome c oxidase that mediates the higher level of energy production
in target cells by estrogen

Gene Wiki entry for COX7A2L 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000002.11  NC_018913.2  NT_022184.16  
Regulatory elements:
   Regulatory transcription factor binding sites in the COX7A2L gene promoter:
         MEF-2A   AML1a   GATA-3   Ik-2   Bach2   aMEF-2   Pax-4a   GATA-2   GATA-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): COX7A2L promoter sequence
   Search Chromatin IP Primers for COX7A2L

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat COX7A2L


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

Entrez Gene cytogenetic band: 2p21   Ensembl cytogenetic band:  2p21   HGNC cytogenetic band: 2p21

COX7A2L Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
COX7A2L gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M042489:  view genomic region     (about GC identifiers)

Start:
42,560,686 bp from pter      End:
42,652,228 bp from pter
Size:
91,543 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: COX7R_HUMAN, O14548 (See protein sequence)
Recommended Name: Cytochrome c oxidase subunit 7A-related protein, mitochondrial precursor  
Size: 114 amino acids; 12615 Da
Secondary accessions: Q9P118

Explore the universe of human proteins at neXtProt for COX7A2L: NX_O14548

Explore proteomics data for COX7A2L at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See COX7A2L Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_004709.2  
    ENSEMBL proteins: 
     ENSP00000429237   ENSP00000367938   ENSP00000428873   ENSP00000431039   ENSP00000234301  
    Reactome Protein details: O14548

    COX7A2L Human Recombinant Protein Products:

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    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

     
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    antibodies-online proteins for COX7A2L (5 products) 

     
    antibodies-online peptides for COX7A2L

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    antibodies-online antibodies for COX7A2L (11 products) 

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    2 InterPro protein domains:
     IPR003177 Cyt_c_oxidase_su7a
     IPR017267 Cyt_c_oxidase_su7a-rel_mt

    Graphical View of Domain Structure for InterPro Entry O14548

    ProtoNet protein and cluster: O14548

    1 Blocks protein domain: IPB003177 Cytochrome c oxidase

    UniProtKB/Swiss-Prot: COX7R_HUMAN, O14548
    Similarity: Belongs to the cytochrome c oxidase VIIa family


    Find genes that share domains with COX7A2L           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: COX7R_HUMAN, O14548
    Function: May be a regulatory subunit of cytochrome c oxidase that mediates the higher level of energy production
    in target cells by estrogen
    Induction: By estrogen

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004129cytochrome-c oxidase activity IEA--
    GO:0009055electron carrier activity ----
         
    Find genes that share ontologies with COX7A2L           About GenesLikeMe


    Phenotypes:
         3 GenomeRNAi human phenotypes for COX7A2L:
     Cell cycle / mitosis defect  Decreased BPV1 E2 protein expr  Increased HPV18 LCR reporter a 

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for COX7A2L

    miRNA
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    miRTarBase miRNAs that target COX7A2L:
    hsa-mir-324-3p (MIRT042835), hsa-mir-26b-5p (MIRT029500)

    Block miRNA regulation of human, mouse, rat COX7A2L using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate COX7A2L (see all 25):
    hsa-miR-106a hsa-miR-301a hsa-miR-519a hsa-miR-3692 hsa-miR-141* hsa-miR-1184 hsa-miR-93 hsa-miR-3143
    SwitchGear 3'UTR luciferase reporter plasmidCOX7A2L 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for COX7A2L
    Predesigned siRNA for gene silencing in human, mouse, rat COX7A2L

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    Sino Biological Human cDNA Clone for COX7A2L
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for COX7A2L


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    COX7R_HUMAN, O14548: Mitochondrion inner membrane (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion4
    cytosol2
    nucleus2

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005743mitochondrial inner membrane TAS--
    GO:0005746mitochondrial respiratory chain IEA--

    Find genes that share ontologies with COX7A2L           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for COX7A2L About    
    See pathways by source

    SuperPathContained pathways About
    1Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
    Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.0.81
    Oxidative phosphorylation0.64
    Respiratory electron transport0.81
    Parkinson's disease0.57
    Electron Transport Chain0.75
    Huntington's disease0.45
    The citric acid (TCA) cycle and respiratory electron transport0.71
    Non-alcoholic fatty liver disease (NAFLD)0.41
    2Alzheimer's disease
    Alzheimer's disease0.44
    3Metabolism
    Metabolism0.38
    4Cardiac muscle contraction
    Cardiac muscle contraction


    Find genes that share SuperPaths with COX7A2L           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for COX7A2L
        Electron Transport Chain


    1 Reactome Pathway for COX7A2L
        Respiratory electron transport


    Selected Kegg Pathways  (Kegg details for COX7A2L) (see all 6):
        Oxidative phosphorylation
    Cardiac muscle contraction
    Non-alcoholic fatty liver disease (NAFLD)
    Alzheimer's disease
    Parkinson's disease

        Pathway & Disease-focused RT2 Profiler PCR Array including COX7A2L: 
              Mitochondrial Energy Metabolism in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for COX7A2L

    STRING Interaction Network Preview (showing 5 interactants - click image to see 24)

    Selected Interacting proteins for COX7A2L (O145482, 3 ENSP000002343014) via UniProtKB, MINT, STRING, and/or I2D (see all 24)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MAGEA11P433642, 3, ENSP000003473584MINT-66357 I2D: score=5 STRING: ENSP00000347358
    COX4I1ENSP000002534524STRING: ENSP00000253452
    COX5BENSP000002584244STRING: ENSP00000258424
    COX6B1ENSP000002465544STRING: ENSP00000246554
    COX6CENSP000002975644STRING: ENSP00000297564
    About this table

    Gene Ontology (GO): 4 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0022904respiratory electron transport chain TAS--
    GO:0044237cellular metabolic process TAS--
    GO:0044281small molecule metabolic process TAS--
    GO:1902600hydrogen ion transmembrane transport TAS9418891

    Find genes that share ontologies with COX7A2L           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for COX7A2L (COX7R)

    2 HMDB Compounds for COX7A2L    About this table
    CompoundSynonyms CAS #PubMed Ids
    OxygenOxygen (see all 5)7782-44-7--
    WaterDihydrogen oxide (see all 2)7732-18-5--

    1 Novoseek inferred chemical compound relationship for COX7A2L gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    estrogen 31.7 1 15136563 (1)



    Find genes that share compounds with COX7A2L           About GenesLikeMe



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for COX7A2L gene: 
    NM_004718.2  

    Unigene Cluster for COX7A2L:

    Cytochrome c oxidase subunit VIIa polypeptide 2 like
    Hs.339639  [show with all ESTs]
    Unigene Representative Sequence: AK130281
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000468711 ENST00000378669(uc002rsk.3 uc002rsl.3) ENST00000482463
    ENST00000464443 ENST00000607768 ENST00000463055 ENST00000423797 ENST00000234301

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    Selected qRT-PCR Assays for microRNAs that regulate COX7A2L (see all 25):
    hsa-miR-106a hsa-miR-301a hsa-miR-519a hsa-miR-3692 hsa-miR-141* hsa-miR-1184 hsa-miR-93 hsa-miR-3143
    SwitchGear 3'UTR luciferase reporter plasmidCOX7A2L 3' UTR sequence
    Inhib. RNA
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat COX7A2L
      QuantiTect SYBR Green Assays in human, mouse, rat COX7A2L
      QuantiFast Probe-based Assays in human, mouse, rat COX7A2L

    Additional mRNA sequence: 

    AB007618.1 AF127788.1 AK092911.1 AK130281.1 BC005251.1 BT007371.1 CR542208.1 

    14 DOTS entries:

    DT.100828061  DT.218748  DT.100828063  DT.100665579  DT.100701662  DT.120942995  DT.120943019  DT.120943035 
    DT.91679062  DT.91767866  DT.95183960  DT.95265320  DT.40302814  DT.95265322 

    Selected AceView cDNA sequences (see all 511):

    BU686363 AA706608 CB141300 CR594885 AI061103 AA896968 AI078715 AI086994 
    AV650226 AI953359 BC005251 CR606573 AF127788 AI026164 CR602398 AV650657 
    NM_004718 BQ216275 AA601078 BM984280 AI262547 AA908370 AW016090 AI701520 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for COX7A2L (see all 6)    About this scheme

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


    ECgene alternative splicing isoforms for COX7A2L

    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    COX7A2L expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AATGAAAAAA
    COX7A2L Expression
    About this image


    COX7A2L expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 4) fully expand
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Cerebral Cortex
     
     Gut Tube (Gastrointestinal Tract)
             Foregut
     
     Eye (Sensory Organs)
             Lens
     
     Neural Tube (Nervous System)
             Telencephalon
    COX7A2L Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    COX7A2L Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.339639
        Pathway & Disease-focused RT2 Profiler PCR Array including COX7A2L: 
              Mitochondrial Energy Metabolism in human mouse rat

    Primer
    Products:
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    QuantiFast Probe-based Assays in human, mouse, rat COX7A2L
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for COX7A2L

    (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)
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    This gene was present in the common ancestor of chordates.

    Orthologs for COX7A2L gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cox7a2l1 , 5 cytochrome c oxidase subunit VIIa polypeptide 2-like1, 5 89.79(n)1
    90.99(a)1
      17 (53.02 cM)5
    204631  NM_001159529.11  NP_001153001.11 
     835019195 
    chicken
    (Gallus gallus)
    Aves COX7A2L1 cytochrome c oxidase subunit VIIa polypeptide 2 like 71.35(n)
    71.05(a)
      421392  NM_001277587.1  NP_001264516.1 
    lizard
    (Anolis carolinensis)
    Reptilia COX7A2L6
    cytochrome c oxidase subunit VIIa polypeptide 2 li...
    71(a)
    1 ↔ 1
    GL343231.1(31591-41196)
    African clawed frog
    (Xenopus laevis)
    Amphibia 480479012   -- 80.72(n)    48047901 
    zebrafish
    (Danio rerio)
    Actinopterygii wufp89f042 wufp89f04 73.65(n)   335751  BC055593.1 


    ENSEMBL Gene Tree for COX7A2L (if available)
    TreeFam Gene Tree for COX7A2L (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for COX7A2L gene
    COX7A12  COX7A22  
    3 SIMAP similar genes for COX7A2L using alignment to 5 protein entries:     COX7R_HUMAN (see all proteins):
    COX7A1    COX7A2P2    COX7A2

    Find genes that share paralogs with COX7A2L           About GenesLikeMe


    2 Pseudogenes.org Pseudogenes for COX7A2L
    PGOHUM00000242896 PGOHUM00000235817


    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for COX7A2L (see all 285)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs19816641,2
    C,F,A,H--42577170(-) TTTCCC/TCCAAG 1 -- ds5001 ese328Minor allele frequency- T:0.35NA EA NS WA CSA 2544
    rs1132341481,2
    C--42577219(+) AGAGAG/TATATC 1 -- ds50011Minor allele frequency- T:0.50CSA 2
    rs30391721,2
    C--42577220(+) AGAGA-/GGTATCA 1 -- ds50010--------
    rs758536051,2
    C--42577220(+) GAGAGG/ATATCA 1 -- ds50011Minor allele frequency- A:0.50NA 2
    rs350606881,2
    C--42577221(+) GAGAT-/GGATCAC 1 -- ds50010--------
    rs1852011781,2
    --42577232(+) TGCAAA/GGCTAC 1 -- ds50010--------
    rs1896188591,2
    --42577300(+) CTATGG/TTAAGA 1 -- ds50010--------
    rs1821039461,2
    --42577414(+) AATGAA/CCTGTG 1 -- ds50010--------
    rs727985401,2
    --42577427(+) TTACAC/GGTACC 1 -- ds50010--------
    rs1855449371,2
    --42577699(+) ATAACA/GTTTTT 1 -- ut310--------

    HapMap Linkage Disequilibrium report for COX7A2L (42560686 - 42652228 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for COX7A2L:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv524679CNV Loss19592680
    nsv873970CNV Gain21882294

    Site Specific Mutation Identification with 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.)
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    OMIM gene information: 605771    OMIM disorders: --

    2 diseases for COX7A2L:    
    About MalaCards
    leigh disease    breast cancer

    1 disease from the University of Copenhagen DISEASES database for COX7A2L:
    Leigh disease

    Find genes that share disorders with COX7A2L           About GenesLikeMe

    Genetic Association Database (GAD): COX7A2L
    Human Genome Epidemiology (HuGE) Navigator: COX7A2L (3 documents)

    Export disorders for COX7A2L 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)
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    PubMed articles for COX7A2L gene, integrated from 10 sources (see all 21):
    (articles sorted by number of sources associating them with COX7A2L)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Isolation of estrogen-responsive genes with a CpG island library. (PubMed id 9418891)1, 2, 3, 9 Watanabe T.... Muramatsu M. (Mol. Cell. Biol. 1998)
    2. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (PLoS ONE 2010)
    3. Sequential use of transcriptional profiling, expression quantitative trait mapping, and gene association implicates MMP20 in human kidney aging. (PubMed id 19834535)1, 4 Wheeler H.E....Kim S.K. (PLoS Genet. 2009)
    4. Polymorphisms in mitochondrial genes and prostate cancer risk. (PubMed id 19064571)1, 4 Wang L....Thibodeau S.N. (amp 2008)
    5. 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. (Genome Res. 2004)
    6. A genomewide linkage-disequilibrium scan localizes the Saguenay-Lac- Saint-Jean cytochrome oxidase deficiency to 2p16. (PubMed id 11156535)1, 2 Lee N.... Rioux J.D. (Am. J. Hum. Genet. 2001)
    7. Molecular evolution of the COX7A gene family in primates. (PubMed id 10335655)1, 2 Schmidt T.R.... Grossman L.I. (Mol. Biol. Evol. 1999)
    8. Identification of an additional member of the cytochrome c oxidase subunit VIIa family of proteins. (PubMed id 8647836)1, 9 Segade F....Lazo P.S. (J. Biol. Chem. 1996)
    9. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (Cell 2012)
    10. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (BMC Syst. Biol. 2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 9167 HGNC: 2289 AceView: COX7A2L Ensembl:ENSG00000115944 euGenes: HUgn9167
    ECgene: COX7A2L Kegg: 9167 H-InvDB: COX7A2L

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for COX7A2L Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for COX7A2L Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for COX7A2L gene:
    Search GeneIP for patents involving COX7A2L

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



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