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Aliases for COX4I2 Gene

Aliases for COX4I2 Gene

  • Cytochrome C Oxidase Subunit 4I2 2 3 5
  • Cytochrome C Oxidase Subunit IV Isoform 2 (Lung) 2 3
  • Cytochrome C Oxidase Subunit IV Isoform 2 2 4
  • Cytochrome C Oxidase Subunit IV-Like 2 2 3
  • COX IV-2 3 4
  • COX4L2 3 4
  • Cytochrome C Oxidase Subunit 4 Isoform 2, Mitochondrial 3
  • DJ857M17.2 3
  • COXIV-2 3
  • COX4-2 3
  • COX4B 3
  • COX4 3

External Ids for COX4I2 Gene

Previous HGNC Symbols for COX4I2 Gene

  • COX4L2

Previous GeneCards Identifiers for COX4I2 Gene

  • GC20P030013
  • GC20P030923
  • GC20P030970
  • GC20P029689
  • GC20P030225
  • GC20P027014

Summaries for COX4I2 Gene

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 4I2) is a Protein Coding gene. Diseases associated with COX4I2 include Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis and Exocrine Pancreatic Insufficiency. Among its related pathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and Cardiac muscle contraction. GO annotations related to this gene include cytochrome-c oxidase activity. An important paralog of this gene is COX4I1.

UniProtKB/Swiss-Prot for COX4I2 Gene

  • 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

Additional gene information for COX4I2 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for COX4I2 Gene

Genomics for COX4I2 Gene

Regulatory Elements for COX4I2 Gene

Enhancers for COX4I2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH20H031672 2.5 VISTA FANTOM5 Ensembl ENCODE dbSUPER 20.4 +39.4 39393 10 HDGF PKNOX1 FOXA2 MLX ARNT ZFP64 ARID4B SIN3A FEZF1 DMAP1 COX4I2 BCL2L1 TM9SF4 HM13 TTLL9 HCK LOC105372589 PIR46209
GH20H031709 2.1 FANTOM5 Ensembl ENCODE dbSUPER 21 +79.3 79310 14 MLX ZFP64 DMAP1 YY1 SLC30A9 ZNF143 SP3 NFYC MEF2D SSRP1 TM9SF4 ASXL1 PLAGL2 MYLK2 COX4I2 DEFB121 RNU1-94P DEFB122 DEFB123 DEFB118
GH20H031601 2.3 VISTA FANTOM5 ENCODE dbSUPER 18.8 -30.4 -30428 11 MLX ZFP64 DMAP1 YY1 SLC30A9 ZNF143 SP3 NFYC ZC3H11A MEF2D ASXL1 TM9SF4 MYLK2 COX4I2 HM13 RNU6-384P HM13-AS1 PLAGL2 POFUT1 ID1
GH20H031702 2 FANTOM5 Ensembl ENCODE dbSUPER 20.3 +68.3 68328 6 HDGF PKNOX1 FOXA2 MLX ARNT ZFP64 ARID4B SIN3A DMAP1 YY1 COX4I2 ASXL1 TM9SF4 TPX2 ID1 BAK1P1 HM13 ABALON LOC105372589
GH20H031693 1.6 Ensembl ENCODE dbSUPER 21 +59.9 59886 9 FOXA2 MLX ZFP64 ARID4B SIN3A FEZF1 DMAP1 YY1 SLC30A9 FOS COX4I2 BCL2L1 ID1 HM13 DEFB121 ABALON LOC105372589
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around COX4I2 on UCSC Golden Path with GeneCards custom track

Genomic Location for COX4I2 Gene

Chromosome:
20
Start:
31,637,879 bp from pter
End:
31,645,009 bp from pter
Size:
7,131 bases
Orientation:
Plus strand

Genomic View for COX4I2 Gene

Genes around COX4I2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
COX4I2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for COX4I2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for COX4I2 Gene

Proteins for COX4I2 Gene

  • Protein details for COX4I2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96KJ9-COX42_HUMAN
    Recommended name:
    Cytochrome c oxidase subunit 4 isoform 2, mitochondrial
    Protein Accession:
    Q96KJ9
    Secondary Accessions:
    • Q6GTF4
    • Q9H0Z4

    Protein attributes for COX4I2 Gene

    Size:
    171 amino acids
    Molecular mass:
    20010 Da
    Quaternary structure:
    No Data Available

neXtProt entry for COX4I2 Gene

Post-translational modifications for COX4I2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for COX4I2 Gene

No data available for DME Specific Peptides for COX4I2 Gene

Domains & Families for COX4I2 Gene

Gene Families for COX4I2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Potential drug targets
  • Predicted membrane proteins
  • Transporters

Protein Domains for COX4I2 Gene

Suggested Antigen Peptide Sequences for COX4I2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q96KJ9

UniProtKB/Swiss-Prot:

COX42_HUMAN :
  • Belongs to the cytochrome c oxidase IV family.
Family:
  • Belongs to the cytochrome c oxidase IV family.
genes like me logo Genes that share domains with COX4I2: view

Function for COX4I2 Gene

Molecular function for COX4I2 Gene

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

Phenotypes From GWAS Catalog for COX4I2 Gene

Gene Ontology (GO) - Molecular Function for COX4I2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004129 cytochrome-c oxidase activity IDA 11311561
genes like me logo Genes that share ontologies with COX4I2: view
genes like me logo Genes that share phenotypes with COX4I2: view

Human Phenotype Ontology for COX4I2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for COX4I2 Gene

MGI Knock Outs for COX4I2:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for COX4I2
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targets and HOMER Transcription for COX4I2 Gene

Localization for COX4I2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for COX4I2 Gene

Mitochondrion inner membrane.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for COX4I2 gene
Compartment Confidence
mitochondrion 5
nucleus 2
extracellular 1

Gene Ontology (GO) - Cellular Components for COX4I2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA --
GO:0005743 mitochondrial inner membrane IEA --
GO:0005751 mitochondrial respiratory chain complex IV IBA,IC 11311561
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with COX4I2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for COX4I2 Gene

Pathways & Interactions for COX4I2 Gene

genes like me logo Genes that share pathways with COX4I2: view

Pathways by source for COX4I2 Gene

Gene Ontology (GO) - Biological Process for COX4I2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006091 generation of precursor metabolites and energy NAS 11311561
GO:0006123 mitochondrial electron transport, cytochrome c to oxygen IBA --
GO:0045333 cellular respiration NAS 11911854
GO:0055114 oxidation-reduction process NAS 11311561
GO:0071456 cellular response to hypoxia IEA --
genes like me logo Genes that share ontologies with COX4I2: view

No data available for SIGNOR curated interactions for COX4I2 Gene

Drugs & Compounds for COX4I2 Gene

(2) Drugs for COX4I2 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Oxygen Approved, Vet_approved Pharma 0
Water Approved Pharma 0
genes like me logo Genes that share compounds with COX4I2: view

Transcripts for COX4I2 Gene

mRNA/cDNA for COX4I2 Gene

(4) REFSEQ mRNAs :
(3) Additional mRNA sequences :
(19) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for COX4I2 Gene

Cytochrome c oxidase subunit IV isoform 2 (lung):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for COX4I2
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for COX4I2 Gene

No ASD Table

Relevant External Links for COX4I2 Gene

GeneLoc Exon Structure for
COX4I2
ECgene alternative splicing isoforms for
COX4I2

Expression for COX4I2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for COX4I2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for COX4I2 Gene

This gene is overexpressed in Lung (x6.4) and Heart - Left Ventricle (x5.4).

Protein differential expression in normal tissues from HIPED for COX4I2 Gene

This gene is overexpressed in Placenta (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for COX4I2 Gene



Protein tissue co-expression partners for COX4I2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of COX4I2 Gene:

COX4I2

SOURCE GeneReport for Unigene cluster for COX4I2 Gene:

Hs.277101

mRNA Expression by UniProt/SwissProt for COX4I2 Gene:

Q96KJ9-COX42_HUMAN
Tissue specificity: Highly expressed in lung.

Evidence on tissue expression from TISSUES for COX4I2 Gene

  • Muscle(2.4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for COX4I2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • lymphatic
  • nervous
  • respiratory
  • skeleton
Organs:
Head and neck:
  • eye
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • pharynx
  • skull
  • tooth
Thorax:
  • bronchus
  • chest wall
  • clavicle
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • intestine
  • large intestine
  • liver
  • pancreas
  • small intestine
  • spleen
Pelvis:
  • pelvis
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • bone marrow
  • red blood cell
  • skin
  • spinal column
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with COX4I2: view

Primer Products

Orthologs for COX4I2 Gene

This gene was present in the common ancestor of animals.

Orthologs for COX4I2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia LOC469913 33
  • 99.42 (n)
COX4I2 34
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia COX4I2 33 34
  • 84.99 (n)
dog
(Canis familiaris)
Mammalia COX4I2 33 34
  • 84.92 (n)
rat
(Rattus norvegicus)
Mammalia Cox4i2 33
  • 78.56 (n)
mouse
(Mus musculus)
Mammalia Cox4i2 33 16 34
  • 77.78 (n)
oppossum
(Monodelphis domestica)
Mammalia COX4I2 34
  • 59 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia COX4I2 34
  • 52 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cox4i2 33
  • 63.72 (n)
Str.14722 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.23896 33
zebrafish
(Danio rerio)
Actinopterygii cox4i2 34
  • 44 (a)
OneToOne
-- 33
fruit fly
(Drosophila melanogaster)
Insecta CoIV 34
  • 32 (a)
ManyToMany
CG10396 34
  • 30 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea W09C5.8 34
  • 26 (a)
OneToMany
Species where no ortholog for COX4I2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for COX4I2 Gene

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

Paralogs for COX4I2 Gene

Paralogs for COX4I2 Gene

(1) SIMAP similar genes for COX4I2 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with COX4I2: view

Variants for COX4I2 Gene

Sequence variations from dbSNP and Humsavar for COX4I2 Gene

SNP ID Clin Chr 20 pos Sequence Context AA Info Type
rs119455950 Pathogenic, Exocrine pancreatic insufficiency dyserythropoietic anemia and calvarial hyperostosis (EPIDACH) [MIM:612714] 31,644,800(+) CGGAC(A/G/T)AGCGG reference, missense
rs11907253 Likely benign 31,644,870(+) CTCCC(A/G/T)CTGGG reference, missense
rs149245323 Uncertain significance 31,643,409(+) TGTAC(C/T)GGCTC intron-variant, reference, missense
rs150196183 Uncertain significance 31,644,784(+) AAGCC(A/G)ATCAC reference, synonymous-codon
rs201106165 Uncertain significance 31,640,081(+) ACCCA(C/T)GCCGA reference, synonymous-codon

Structural Variations from Database of Genomic Variants (DGV) for COX4I2 Gene

Variant ID Type Subtype PubMed ID
dgv4300n100 CNV gain 25217958
esv2763228 CNV gain 21179565
nsv458961 CNV gain 19166990
nsv470546 CNV gain 18288195
nsv585911 CNV gain 21841781

Variation tolerance for COX4I2 Gene

Residual Variation Intolerance Score: 80.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.88; 59.08% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for COX4I2 Gene

Human Gene Mutation Database (HGMD)
COX4I2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
COX4I2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for COX4I2 Gene

Disorders for COX4I2 Gene

MalaCards: The human disease database

(4) MalaCards diseases for COX4I2 Gene - From: HGMD, OMIM, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis
  • pancreatic insufficiency-anemia-hyperostosis syndrome
exocrine pancreatic insufficiency
calvarial hyperostosis
  • isolated hyperostosis of the calvarium
hyperostosis
  • bone hypertrophy
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

COX42_HUMAN
  • 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. {ECO:0000269 PubMed:19268275}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for COX4I2

Genetic Association Database (GAD)
COX4I2
Human Genome Epidemiology (HuGE) Navigator
COX4I2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
COX4I2
genes like me logo Genes that share disorders with COX4I2: view

No data available for Genatlas for COX4I2 Gene

Publications for COX4I2 Gene

  1. Mammalian subunit IV isoforms of cytochrome c oxidase. (PMID: 11311561) Hüttemann M … Grossman LI (Gene 2001) 2 3 4 22 60
  2. Exocrine pancreatic insufficiency, dyserythropoeitic anemia, and calvarial hyperostosis are caused by a mutation in the COX4I2 gene. (PMID: 19268275) Shteyer E … Elpeleg O (American journal of human genetics 2009) 3 4 22 60
  3. Transcription of mammalian cytochrome c oxidase subunit IV-2 is controlled by a novel conserved oxygen responsive element. (PMID: 17937768) Hüttemann M … Grossman LI (The FEBS journal 2007) 2 3 22 60
  4. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 45 60
  5. Polymorphisms in mitochondrial genes and prostate cancer risk. (PMID: 19064571) Wang L … Thibodeau SN (Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2008) 3 45 60

Products for COX4I2 Gene

Sources for COX4I2 Gene

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