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COX4I2 Gene

protein-coding   GIFtS: 56
GCID: GC20P030225

Cytochrome C Oxidase Subunit IV Isoform 2 (Lung)

(Previous name: cytochrome c oxidase subunit IV isoform 2)
(Previous symbol: COX4L2)
  See COX4I2-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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Aliases
Cytochrome C Oxidase Subunit IV Isoform 2 (Lung)1 2     COX4-22
COX4L21 2 3     COX4B2
Cytochrome C Oxidase Subunit IV Isoform 21 3     COXIV-22
Cytochrome C Oxidase Subunit IV-Like 21 2     Cytochrome C Oxidase Subunit 4 Isoform 2, Mitochondrial2
COX IV-22 3     dJ857M17.22
COX42     

External Ids:    HGNC: 162321   Entrez Gene: 847012   Ensembl: ENSG000001310557   OMIM: 6079765   UniProtKB: Q96KJ93   

Export aliases for COX4I2 gene to outside databases

Previous GC identifers: GC20P030013 GC20P030923 GC20P030970 GC20P029689 GC20P027014


(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 COX4I2 Gene:
Cytochrome c oxidase (COX), the terminal enzyme of the mitochondrial respiratory chain, catalyzes the electron
transfer from reduced cytochrome c to oxygen. It 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 be involved
in the regulation and assembly of the complex. This nuclear gene encodes isoform 2 of subunit IV. Isoform 1 of
subunit IV is encoded by a different gene, however, the two genes show a similar structural organization. Subunit
IV is the largest nuclear encoded subunit which plays a pivotal role in COX regulation. (provided by RefSeq, Jul
2008)

GeneCards Summary for COX4I2 Gene:
COX4I2 (cytochrome c oxidase subunit IV isoform 2 (lung)) is a protein-coding gene. Diseases associated with COX4I2 include exocrine pancreatic insufficiency, and calvarial hyperostosis. GO annotations related to this gene include cytochrome-c oxidase activity. An important paralog of this gene is COX4I1.

UniProtKB/Swiss-Prot: COX42_HUMAN, Q96KJ9
Function: This protein is one of the nuclear-coded polypeptide chains of cytochrome c oxidase, the terminal
oxidase in mitochondrial electron transport

Gene Wiki entry for COX4I2 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_000020.10  NT_011362.11  NC_018931.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the COX4I2 gene promoter:
         AP-2rep   GR   NF-1/L   Tal-1   RelA   NF-kappaB   E47   HEN1   GR-alpha   NF-kappaB1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCOX4I2 promoter sequence
   Search Chromatin IP Primers for COX4I2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat COX4I2


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

Entrez Gene cytogenetic band: 20q11.21   Ensembl cytogenetic band:  20q11.21   HGNC cytogenetic band: 20q11.21

COX4I2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
COX4I2 gene location

GeneLoc information about chromosome 20         GeneLoc Exon Structure

GeneLoc location for GC20P030225:  view genomic region     (about GC identifiers)

Start:
30,225,691 bp from pter      End:
30,232,809 bp from pter
Size:
7,119 bases      Orientation:
plus 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., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: COX42_HUMAN, Q96KJ9 (See protein sequence)
Recommended Name: Cytochrome c oxidase subunit 4 isoform 2, mitochondrial precursor  
Size: 171 amino acids; 20010 Da
Secondary accessions: Q6GTF4 Q9H0Z4

Explore the universe of human proteins at neXtProt for COX4I2: NX_Q96KJ9

Explore proteomics data for COX4I2 at MOPED


See COX4I2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_115998.2  
ENSEMBL proteins: 
 ENSP00000365243  

COX4I2 Human Recombinant Protein Products:

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Search eBioscience for ELISAs for COX4I2 


(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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HGNC Gene Families:
comIV: Mitochondrial respiratory chain complex / Complex IV

2 InterPro protein domains:
 IPR013288 Cyt_c_oxidase_su4
 IPR004203 Cyt_c_oxidase_su4_fam

Graphical View of Domain Structure for InterPro Entry Q96KJ9

ProtoNet protein and cluster: Q96KJ9

1 Blocks protein domain: IPB004203 Cytochrome c oxidase subunit IV

UniProtKB/Swiss-Prot: COX42_HUMAN, Q96KJ9
Similarity: Belongs to the cytochrome c oxidase IV family


Find genes that share domains with COX4I2           About GenesLikeMe


(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,
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: COX42_HUMAN, Q96KJ9
Function: This protein is one of the nuclear-coded polypeptide chains of cytochrome c oxidase, the terminal
oxidase in mitochondrial electron transport

     Gene Ontology (GO): 1 molecular function term:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0004129cytochrome-c oxidase activity IDA11311561
     
Find genes that share ontologies with COX4I2           About GenesLikeMe


Phenotypes:
     2 GenomeRNAi human phenotypes for COX4I2:
 Increased cell number in S and  Synthetic lethal with Ras 

     5 MGI mutant phenotypes (inferred from 1 allele(MGI details for Cox4i2):
 behavior/neurological  growth/size/body  homeostasis/metabolism  immune system  respiratory system 

Find genes that share phenotypes with COX4I2           About GenesLikeMe

Animal Models:
     MGI mouse knock-out Cox4i2tm1Hutt for COX4I2

   inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for COX4I2
   inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for COX4I2

   genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for COX4I2
   genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for COX4I2

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In Situ Assay
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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for COX4I2


(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
COX42_HUMAN, Q96KJ9: Mitochondrion inner membrane
Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
mitochondrion5
extracellular1

Gene Ontology (GO): 3 cellular component terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005739mitochondrion ----
GO:0005751mitochondrial respiratory chain complex IV IC11311561
GO:0031966mitochondrial membrane ----

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(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 COX4I2 About    
See pathways by source

SuperPathContained pathways About
1Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
Oxidative phosphorylation0.64
Huntington's disease0.45
Parkinson's disease0.57
Non-alcoholic fatty liver disease (NAFLD)0.41
2Alzheimer's disease
Alzheimer's disease0.44
3Metabolism
Metabolic pathways0.38
4Cardiac muscle contraction
Cardiac muscle contraction
5AMPK Enzyme Complex Pathway
AMPK Enzyme Complex Pathway


Find genes that share SuperPaths with COX4I2           About GenesLikeMe

Pathways by source                                                                                                                                                                 See SuperPaths
Show all pathways

1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for COX4I2
    AMPK Enzyme Complex Pathway


Selected Kegg Pathways  (Kegg details for COX4I2) (see all 7):
    Oxidative phosphorylation
Metabolic pathways
Cardiac muscle contraction
Non-alcoholic fatty liver disease (NAFLD)
Alzheimer's disease

    Pathway & Disease-focused RT2 Profiler PCR Array including COX4I2: 
          Mitochondrial Energy Metabolism in human mouse rat

Interactions:

    Search GeneGlobe Interaction Network for COX4I2

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

Selected Interacting proteins for COX4I2 (Q96KJ93 ENSP000003652434) via UniProtKB, MINT, STRING, and/or I2D (see all 28)
InteractantInteraction Details
GeneCardExternal ID(s)
CYCSP999993, ENSP000003077864I2D: score=2 STRING: ENSP00000307786
EIF3LQ9Y2623I2D: score=5 
SURF1ENSP000003610424STRING: ENSP00000361042
COX6A1ENSP000002293794STRING: ENSP00000229379
COX6A2ENSP000002874904STRING: ENSP00000287490
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Gene Ontology (GO): 4 biological process terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0006091generation of precursor metabolites and energy NAS11311561
GO:0045333cellular respiration NAS11911854
GO:0055114oxidation-reduction process NAS11311561
GO:1902600hydrogen ion transmembrane transport IDA11311561

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(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 COX4I2 (COX42)

2 HMDB Compounds for COX4I2    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 COX4I2 gene    About this table
Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
oxygen 15.8 3 12882902 (1), 16981895 (1), 17937768 (1)



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(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 COX4I2 gene: 
NM_032609.2  

Unigene Cluster for COX4I2:

Cytochrome c oxidase subunit IV isoform 2 (lung)
Hs.277101  [show with all ESTs]
Unigene Representative Sequence: BX378238
2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000376075(uc002wwj.1) ENST00000490030
miRNA
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Inhib. RNA
Products:
     
OriGene RNAi products in human, mouse, rat for COX4I2
Predesigned siRNA for gene silencing in human, mouse, rat COX4I2
Clone
Products:
     
OriGene clones in human, mouse for COX4I2 (see all 5)
OriGene ORF clones in mouse, rat for COX4I2
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
GenScript: all cDNA clones in your preferred vector: COX4I2 (NM_032609)
DNA2.0 Custom Codon Optimized Gene Synthesis Service for COX4I2
Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat COX4I2
Primer
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OriGene qPCR primer pairs and template standards for COX4I2
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Pre-validated RT2 qPCR Primer Assay in human, mouse, rat COX4I2
  QuantiTect SYBR Green Assays in human, mouse, rat COX4I2
  QuantiFast Probe-based Assays in human, mouse, rat COX4I2

Additional mRNA sequence: 

AF257180.1 BC057779.1 HE647859.1 

2 DOTS entries:

DT.423933  DT.100711619 

19 AceView cDNA sequences:

BM701080 F37152 CA431133 NM_032609 BM674171 CR594972 F28784 H79747 
AI761226 BX378238 BX280722 AF257180 BC057779 BI035944 BM715837 CB994277 
CB997644 AA602436 AA975703 

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™, 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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COX4I2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: --
COX4I2 Expression
About this image


COX4I2 expression in embryonic tissues and stem cells    About this table
Data from LifeMap, the Embryonic Development and Stem Cells Database
 selected tissues (see all 5) fully expand
 
 Brain (Nervous System)    fully expand to see all 5 entries
         Cerebral Cortex
 
 Neural Tube (Nervous System)    fully expand to see all 3 entries
         Metencephalon
 
 Gut Tube (Gastrointestinal Tract)
         Foregut
 
 Kidney (Urinary System)
         Metanephros
 
 Placenta (Extraembryonic Tissues)
COX4I2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

COX4I2 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.277101

UniProtKB/Swiss-Prot: COX42_HUMAN, Q96KJ9
Tissue specificity: Highly expressed in lung

    Pathway & Disease-focused RT2 Profiler PCR Array including COX4I2: 
          Mitochondrial Energy Metabolism in human mouse rat

Primer
Products:
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QuantiFast Probe-based Assays in human, mouse, rat COX4I2
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)
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This gene was present in the common ancestor of animals.

Orthologs for COX4I2 gene from Selected species (see all 13)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Cox4i21 , 5 cytochrome c oxidase subunit IV isoform 21, 5 77.78(n)1
74.27(a)1
  2 (75.41 cM)5
846821  NM_053091.21  NP_444321.11 
 1527541735 
lizard
(Anolis carolinensis)
Reptilia COX4I26
cytochrome c oxidase subunit IV isoform 2 (lung)
52(a)
1 ↔ 1
GL343768.1(157493-168168)
African clawed frog
(Xenopus laevis)
Amphibia Xl.238962 Xenopus laevis transcribed sequence with weak similarity more 75.48(n)    48060976 
zebrafish
(Danio rerio)
Actinopterygii BC059669.12   -- 72.97(n)   393776  BC059669.1 
fruit fly
(Drosophila melanogaster)
Insecta CoIV6
CG103966
--
32(a)
30(a)
many ↔ many
many ↔ many
2L(19958713-19960065)
2R(1241499-1242231)
worm
(Caenorhabditis elegans)
Secernentea W09C5.86
Protein W09C5.8 (W09C5.8) mRNA, complete cds
26(a)
1 → many
I(13658171-13659128) WBGene00012354


ENSEMBL Gene Tree for COX4I2 (if available)
TreeFam Gene Tree for COX4I2 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Paralogs for COX4I2 gene
COX4I12  
1 SIMAP similar gene for COX4I2 using alignment to 2 protein entries:     COX42_HUMAN (see all proteins):
COX4I1

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(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 COX4I2 (see all 243)    About this table                                 

Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 20 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1194559501,2,,4
C,FExocrine pancreatic insufficiency dyserythropoietic anemia and calvarial hyperostosis (EPIDACH)4 pathogenic130245785(+) CGGACG/AAGCGG 2 /K /E mis11Minor allele frequency- A:0.00NA 4550
rs1122583021,2
C--30224449(+) TGTCTT/ATTTTT 1 -- us2k12Minor allele frequency- A:0.33WA CSA 3
rs1469732391,2
C--30226283(+) TCCCC-/CAACCCC 1 -- int10--------
rs352142761,2
C--30228758(+) ACACA-/AC    
   
/ACAC
CACAC
1 -- int10--------
rs1420317591,2
--30236985(+) TTCACC/TGTGTT 1 -- us2k10--------
rs1506865081,2
--30237053(+) TGCTGA/GGATTA 1 -- us2k10--------
rs1175896091,2
F--30237415(+) CCTCCC/TGAGTA 1 -- us2k11Minor allele frequency- T:0.12NA 120
rs2009110401,2
C--30237480(+) GAGAC-/GGGATT 1 -- us2k10--------
rs60604251,2
C,F--30237537(+) CTGCTC/TGCCTC 1 -- us2k15Minor allele frequency- T:0.37WA NA 244
rs1826630111,2
--30237543(+) GCCTCC/TGCCTC 1 -- us2k10--------

HapMap Linkage Disequilibrium report for COX4I2 (30225691 - 30232809 bp)

Structural Variations
     Database of Genomic Variants (DGV) 2 variations for COX4I2:    About this table    
Variant IDTypeSubtypePubMed ID
nsv458961CNV Gain19166990
nsv470546CNV Gain18288195

Human Gene Mutation Database (HGMD): COX4I2
Site Specific Mutation Identification with PCR Assays
SeqTarget long-range PCR primers for resequencing COX4I2
DNA2.0 Custom Variant and Variant Library Synthesis for COX4I2

(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: 607976   
OMIM disorders: 612714  
UniProtKB/Swiss-Prot: COX42_HUMAN, Q96KJ9
  • Exocrine pancreatic insufficiency dyserythropoietic anemia and calvarial hyperostosis (EPIDACH)
    [MIM:612714]: Patients present with pancreatic insufficiency, intestinal malabsorption, failure to thrive, and
    anemia soon after birth. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 4 diseases for COX4I2:    
    About MalaCards
    exocrine pancreatic insufficiency    calvarial hyperostosis    exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis    hyperostosis


    Find genes that share disorders with COX4I2           About GenesLikeMe

    Genetic Association Database (GAD): COX4I2
    Human Genome Epidemiology (HuGE) Navigator: COX4I2 (2 documents)

    Export disorders for COX4I2 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 COX4I2 gene, integrated from 10 sources (see all 30):
    (articles sorted by number of sources associating them with COX4I2)
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    1. Mammalian subunit IV isoforms of cytochrome c oxidase. (PubMed id 11311561)1, 2, 3, 9 Huettemann M.... Grossman L.I. (Gene 2001)
    2. Exocrine pancreatic insufficiency, dyserythropoeitic anemia, and calvarial hyperostosis are caused by a mutation in the COX4I2 gene. (PubMed id 19268275)1, 2, 9 Shteyer E.... Elpeleg O. (Am. J. Hum. Genet. 2009)
    3. Transcription of mammalian cytochrome c oxidase subunit IV-2 is controlled by a novel conserved oxygen responsive element. (PubMed id 17937768)1, 3, 9 HA1ttemann M....Grossman L.I. (FEBS J. 2007)
    4. 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)
    5. Polymorphisms in mitochondrial genes and prostate cancer risk. (PubMed id 19064571)1, 4 Wang L....Thibodeau S.N. (amp 2008)
    6. 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)
    7. The DNA sequence and comparative analysis of human chromosome 20. (PubMed id 11780052)1, 2 Deloukas P....Rogers J. (Nature 2001)
    8. Oxygen-dependent expression of cytochrome c oxidase subunit 4-2 gene expression is mediated by transcription factors RBPJ, CXXC5 and CHCHD2. (PubMed id 23303788)1 Aras S....Grossman L.I. (Nucleic Acids Res. 2013)
    9. Interactions of pathological hallmark proteins: tubulin polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (J. Biol. Chem. 2011)
    10. HIF-1 regulates cytochrome oxidase subunits to optimize efficiency of respiration in hypoxic cells. (PubMed id 17418790)1 Fukuda R....Semenza G.L. (Cell 2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 84701 HGNC: 16232 AceView: COX4I2 Ensembl:ENSG00000131055 euGenes: HUgn84701
    ECgene: COX4I2 Kegg: 84701 H-InvDB: COX4I2

    (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 COX4I2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
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    IP news from LifeMap Sciences, Inc.)
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    Patent Information for COX4I2 gene:
    Search GeneIP for patents involving COX4I2

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