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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 AMPK Enzyme Complex Pathway. Gene Ontology (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

GeneHancer (GH) Regulatory Elements for COX4I2 Gene

Promoters and enhancers for COX4I2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH20I031637 Promoter/Enhancer 0.8 EPDnew dbSUPER 550.8 +0.0 14 0.1 EBF1 COX4I2 GC20P031656
GH20I031709 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 21 +79.3 79309 14.7 MLX ZFP64 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 BCL2L1 ASXL1 PLAGL2 TM9SF4 MYLK2 COX4I2 TSPY26P LOC105372589 ID1 MCTS2P
GH20I031601 Promoter/Enhancer 3.1 VISTA EPDnew FANTOM5 Ensembl ENCODE dbSUPER 18.8 -30.4 -30427 11.5 CLOCK MLX ZFP64 DMAP1 IRF4 YY1 SLC30A9 E2F8 ZNF143 SP3 ID1 MIR3193 GC20P031606 ASXL1 TM9SF4 MYLK2 COX4I2 HM13 RNU6-384P HM13-AS1
GH20I031672 Enhancer 2.2 VISTA FANTOM5 Ensembl ENCODE dbSUPER 20.4 +39.4 39393 10.3 HDGF PKNOX1 CLOCK SMAD1 FOXA2 MLX ARNT ZFP64 ARID4B NEUROD1 LOC105372589 COX4I2 BCL2L1 TM9SF4 HM13 TTLL9 HCK PIR46209
GH20I031702 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 20.3 +68.3 68327 6.8 HDGF PKNOX1 SMAD1 FOXA2 MLX ARNT ZFP64 ARID4B SIN3A DMAP1 COX4I2 ASXL1 TM9SF4 TPX2 ID1 BAK1P1 HM13 ABALON BCL2L1 LOC105372589
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around COX4I2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the COX4I2 gene promoter:

Genomic Locations for COX4I2 Gene

Genomic Locations for COX4I2 Gene
chr20:31,637,879-31,645,009
(GRCh38/hg38)
Size:
7,131 bases
Orientation:
Plus strand
chr20:30,225,691-30,232,809
(GRCh37/hg19)

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

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

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:0022900 electron transport chain IEA --
GO:0045333 cellular respiration NAS 11911854
GO:0055114 oxidation-reduction process NAS 11311561
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

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
Regions:
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

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 Variation AA Info Type
rs11907253 likely-benign, benign, Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis, not specified 31,644,870(+) G/A/T coding_sequence_variant, missense_variant
rs119455950 pathogenic, uncertain-significance, Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis, not specified, Exocrine pancreatic insufficiency dyserythropoietic anemia and calvarial hyperostosis (EPIDACH) [MIM:612714] 31,644,800(+) G/A/T coding_sequence_variant, missense_variant, stop_gained
rs150196183 uncertain-significance, Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis 31,644,784(+) G/A/C coding_sequence_variant, synonymous_variant
rs201106165 uncertain-significance, Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis 31,640,081(+) C/T coding_sequence_variant, synonymous_variant
rs201853480 uncertain-significance, Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis 31,639,012(+) C/A/T genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant

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)

Additional Variant Information 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

(6) MalaCards diseases for COX4I2 Gene - From: HGMD, OMIM, GTR, 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
encephalopathy, ethylmalonic
  • ee
- 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.

Additional Disease Information for COX4I2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 58
  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 58
  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 58
  4. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 44 58
  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 44 58

Products for COX4I2 Gene

Sources for COX4I2 Gene

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