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Protein

Cytochrome c oxidase subunit 4 isoform 2, mitochondrial

Gene

COX4I2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

This protein is one of the nuclear-coded polypeptide chains of cytochrome c oxidase, the terminal oxidase in mitochondrial electron transport.

GO - Molecular functioni

  • cytochrome-c oxidase activity Source: UniProtKB

GO - Biological processi

  • cellular respiration Source: UniProtKB
  • cellular response to hypoxia Source: Ensembl
  • generation of precursor metabolites and energy Source: UniProtKB
  • mitochondrial electron transport, cytochrome c to oxygen Source: GO_Central
  • oxidation-reduction process Source: UniProtKB

Protein family/group databases

TCDBi3.D.4.11.1 the proton-translocating cytochrome oxidase (cox) superfamily

Names & Taxonomyi

Protein namesi
Recommended name:
Cytochrome c oxidase subunit 4 isoform 2, mitochondrial
Alternative name(s):
Cytochrome c oxidase subunit IV isoform 2
Short name:
COX IV-2
Gene namesi
Name:COX4I2
Synonyms:COX4L2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 20

Organism-specific databases

EuPathDBiHostDB:ENSG00000131055.4
HGNCiHGNC:16232 COX4I2
MIMi607976 gene
neXtProtiNX_Q96KJ9

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Membrane, Mitochondrion, Mitochondrion inner membrane

Pathology & Biotechi

Involvement in diseasei

Exocrine pancreatic insufficiency dyserythropoietic anemia and calvarial hyperostosis (EPIDACH)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionPatients present with pancreatic insufficiency, intestinal malabsorption, failure to thrive, and anemia soon after birth.
See also OMIM:612714
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_058101138E → K in EPIDACH; expression in patient fibroblasts is reduced to 25% of control values in normoxic conditions; the mutant protein shows an impaired response to hypoxia. 1 PublicationCorresponds to variant dbSNP:rs119455950EnsemblClinVar.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi84701
MalaCardsiCOX4I2
MIMi612714 phenotype
OpenTargetsiENSG00000131055
Orphaneti199337 Pancreatic insufficiency - anemia - hyperostosis
PharmGKBiPA26783

Polymorphism and mutation databases

BioMutaiCOX4I2
DMDMi73620953

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_0000006089? – 171Cytochrome c oxidase subunit 4 isoform 2, mitochondrial
Transit peptidei1 – ?MitochondrionSequence analysis

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Disulfide bondi40 ↔ 54Sequence analysis

Keywords - PTMi

Disulfide bond

Proteomic databases

EPDiQ96KJ9
PaxDbiQ96KJ9
PeptideAtlasiQ96KJ9
PRIDEiQ96KJ9
ProteomicsDBi77079

PTM databases

PhosphoSitePlusiQ96KJ9

Expressioni

Tissue specificityi

Highly expressed in lung.

Gene expression databases

BgeeiENSG00000131055
CleanExiHS_COX4I2
ExpressionAtlasiQ96KJ9 baseline and differential
GenevisibleiQ96KJ9 HS

Interactioni

Protein-protein interaction databases

BioGridi124215, 4 interactors
STRINGi9606.ENSP00000365243

Structurei

3D structure databases

ProteinModelPortaliQ96KJ9
SMRiQ96KJ9
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the cytochrome c oxidase IV family.Curated

Keywords - Domaini

Transit peptide

Phylogenomic databases

eggNOGiKOG4075 Eukaryota
ENOG4111T97 LUCA
GeneTreeiENSGT00390000002407
HOGENOMiHOG000231486
HOVERGENiHBG051087
InParanoidiQ96KJ9
KOiK02263
OMAiLVIWWQR
OrthoDBiEOG091G0XDH
PhylomeDBiQ96KJ9
TreeFamiTF105061

Family and domain databases

CDDicd00922 Cyt_c_Oxidase_IV, 1 hit
Gene3Di1.10.442.10, 1 hit
InterProiView protein in InterPro
IPR013288 Cyt_c_oxidase_su4
IPR004203 Cyt_c_oxidase_su4_fam
IPR036639 Cyt_c_oxidase_su4_sf
PANTHERiPTHR10707 PTHR10707, 1 hit
PfamiView protein in Pfam
PF02936 COX4, 1 hit
PRINTSiPR01873 CYTCOXIDASE4
SUPFAMiSSF81406 SSF81406, 1 hit

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

Q96KJ9-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MLPRAAWSLV LRKGGGGRRG MHSSEGTTRG GGKMSPYTNC YAQRYYPMPE
60 70 80 90 100
EPFCTELNAE EQALKEKEKG SWTQLTHAEK VALYRLQFNE TFAEMNRRSN
110 120 130 140 150
EWKTVMGCVF FFIGFAALVI WWQRVYVFPP KPITLTDERK AQQLQRMLDM
160 170
KVNPVQGLAS RWDYEKKQWK K
Length:171
Mass (Da):20,010
Last modified:August 16, 2005 - v2
Checksum:iCD9BC8EC6EA3F4A3
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_058101138E → K in EPIDACH; expression in patient fibroblasts is reduced to 25% of control values in normoxic conditions; the mutant protein shows an impaired response to hypoxia. 1 PublicationCorresponds to variant dbSNP:rs119455950EnsemblClinVar.1
Natural variantiVAR_033815161R → H1 PublicationCorresponds to variant dbSNP:rs11907253EnsemblClinVar.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF257180 mRNA Translation: AAK49333.1
AL117381 Genomic DNA No translation available.
BC057779 mRNA Translation: AAH57779.1
CCDSiCCDS13187.1
RefSeqiNP_115998.2, NM_032609.2
UniGeneiHs.277101

Genome annotation databases

EnsembliENST00000376075; ENSP00000365243; ENSG00000131055
GeneIDi84701
KEGGihsa:84701
UCSCiuc002wwj.2 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiCOX42_HUMAN
AccessioniPrimary (citable) accession number: Q96KJ9
Secondary accession number(s): Q6GTF4, Q9H0Z4
Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 3, 2002
Last sequence update: August 16, 2005
Last modified: July 18, 2018
This is version 135 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 20
    Human chromosome 20: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

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