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Aliases for PET100 Gene

Aliases for PET100 Gene

  • PET100 Homolog 2 3 5
  • C19orf79 3 4
  • Protein PET100 Homolog, Mitochondrial 3
  • Chromosome 19 Open Reading Frame 79 2
  • PET100 Homolog (S. Cerevisiae) 2

External Ids for PET100 Gene

Previous HGNC Symbols for PET100 Gene

  • C19orf79

Previous GeneCards Identifiers for PET100 Gene

  • GC19P007702
  • GC19P007713
  • GC19P007719
  • GC19P007724

Summaries for PET100 Gene

Entrez Gene Summary for PET100 Gene

  • Mitochondrial complex IV, or cytochrome c oxidase, is a large transmembrane protein complex that is part of the respiratory electron transport chain of mitochondria. The small protein encoded by this gene plays a role in the biogenesis of mitochondrial complex IV. This protein localizes to the inner mitochondrial membrane and is exposed to the intermembrane space. Mutations in this gene are associated with mitochondrial complex IV deficiency. This gene has a pseudogene on chromosome 3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014]

GeneCards Summary for PET100 Gene

PET100 (PET100 Homolog) is a Protein Coding gene. Diseases associated with PET100 include Mitochondrial Complex Iv Deficiency and Leigh Syndrome With Leukodystrophy.

Additional gene information for PET100 Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PET100 Gene

Genomics for PET100 Gene

GeneHancer (GH) Regulatory Elements for PET100 Gene

Promoters and enhancers for PET100 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH19J007628 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 667.8 -0.2 -150 2.7 PKNOX1 FOXA2 SMAD1 ARNT ARID4B SIN3A ZNF2 YY1 SLC30A9 POLR2B XAB2 PET100 ENSG00000268400 ELAVL1 HNRNPM TRIP10 ZNF557 ENSG00000269680 RETN PCP2
GH19J007636 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 14.9 +7.7 7722 2.1 HDGF PKNOX1 ATF1 ARNT ARID4B SIN3A YY1 TCF12 POLR2B E2F8 STXBP2 PCP2 ENSG00000268204 ZNF557 HNRNPM XAB2 PET100 ELAVL1 ZNF414 ENSG00000268400
GH19J007643 Enhancer 0.9 Ensembl ENCODE 13.4 +15.5 15461 4 HDGF KLF1 PTBP1 KLF14 POLR2B ZNF366 POLR2A RBM22 ZNF600 KLF8 STXBP2 PET100 PCP2 ENSG00000268204 XAB2 RPS27AP19
GH19J007799 Enhancer 1 Ensembl ENCODE 11.5 +170.2 170164 1.4 KLF17 MZF1 RAD21 YY1 RFX5 ZNF335 ZNF143 IKZF2 MIXL1 ZNF654 TRAPPC5 MCEMP1 CLEC4G RPL21P129 CD209 PET100 XAB2 LRRC8E PRR36 CLEC4GP1
GH19J007605 Enhancer 0.7 ENCODE 12.4 -24.0 -24007 0.4 HDGF MEIS2 PKNOX1 ZNF366 VEZF1 ATF7 KLF8 SP3 ZNF621 NRF1 PET100 XAB2 CD209 RPL21P129 CLEC4G ARHGEF18 CAMSAP3 MIR6792
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PET100 on UCSC Golden Path with GeneCards custom track

Genomic Locations for PET100 Gene

Genomic Locations for PET100 Gene
2,220 bases
Plus strand
2,220 bases
Plus strand

Genomic View for PET100 Gene

Genes around PET100 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PET100 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PET100 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PET100 Gene

Proteins for PET100 Gene

  • Protein details for PET100 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Protein PET100 homolog, mitochondrial
    Protein Accession:

    Protein attributes for PET100 Gene

    73 amino acids
    Molecular mass:
    9114 Da
    Quaternary structure:
    • Interacts with COX7A2.

neXtProt entry for PET100 Gene

Post-translational modifications for PET100 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PET100 Gene

No data available for DME Specific Peptides for PET100 Gene

Domains & Families for PET100 Gene

Gene Families for PET100 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for PET100 Gene


Graphical View of Domain Structure for InterPro Entry



  • Belongs to the PET100 family.
  • Belongs to the PET100 family.
genes like me logo Genes that share domains with PET100: view

No data available for Suggested Antigen Peptide Sequences for PET100 Gene

Function for PET100 Gene

Gene Ontology (GO) - Molecular Function for PET100 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0051082 unfolded protein binding IBA --
genes like me logo Genes that share ontologies with PET100: view

Human Phenotype Ontology for PET100 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PET100

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Phenotypes , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for PET100 Gene

Localization for PET100 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PET100 Gene

Membrane; Single-pass membrane protein. Mitochondrion. Note=Localizes to a membrane-bound organelle. {ECO:0000269 PubMed:22356826}.

Subcellular locations from

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 PET100 gene
Compartment Confidence
mitochondrion 4
extracellular 3
endoplasmic reticulum 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PET100 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0031305 integral component of mitochondrial inner membrane IBA --
genes like me logo Genes that share ontologies with PET100: view

Pathways & Interactions for PET100 Gene

SuperPathways for PET100 Gene

No Data Available

Interacting Proteins for PET100 Gene

Gene Ontology (GO) - Biological Process for PET100 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0033617 mitochondrial respiratory chain complex IV assembly IEA,IBA --
genes like me logo Genes that share ontologies with PET100: view

No data available for Pathways by source and SIGNOR curated interactions for PET100 Gene

Drugs & Compounds for PET100 Gene

No Compound Related Data Available

Transcripts for PET100 Gene

mRNA/cDNA for PET100 Gene

(1) REFSEQ mRNAs :
(5) Additional mRNA sequences :
(7) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for PET100 Gene

PET100 homolog (S. cerevisiae):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PET100

Alternative Splicing Database (ASD) splice patterns (SP) for PET100 Gene

No ASD Table

Relevant External Links for PET100 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for PET100 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PET100 Gene

Protein differential expression in normal tissues from HIPED for PET100 Gene

This gene is overexpressed in Bone (65.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for PET100 Gene

Protein tissue co-expression partners for PET100 Gene

NURSA nuclear receptor signaling pathways regulating expression of PET100 Gene:


SOURCE GeneReport for Unigene cluster for PET100 Gene:


Phenotype-based relationships between genes and organs from Gene ORGANizer for PET100 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • urinary
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • meninges
  • neck
  • bronchus
  • heart
  • heart valve
  • lung
  • trachea
  • kidney
  • liver
  • blood
  • blood vessel
  • coagulation system
  • hair
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal cord
genes like me logo Genes that share expression patterns with PET100: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Evidence on tissue expression from TISSUES for PET100 Gene

Orthologs for PET100 Gene

This gene was present in the common ancestor of animals.

Orthologs for PET100 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia -- 34
  • 100 (a)
PET100 33
  • 99.09 (n)
-- 34
  • 96 (a)
(Canis familiaris)
Mammalia PET100 33
  • 90.41 (n)
(Bos Taurus)
Mammalia PET100 33
  • 88.89 (n)
(Rattus norvegicus)
Mammalia Pet100 33
  • 81.28 (n)
(Mus musculus)
Mammalia Pet100 16 34 33
  • 80.37 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia pet100 33
  • 69.7 (n)
(Danio rerio)
Actinopterygii LOC100334510 33
  • 65.75 (n)
PET100 34
  • 55 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG14483 34
  • 32 (a)
Species where no ortholog for PET100 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for PET100 Gene

Gene Tree for PET100 (if available)
Gene Tree for PET100 (if available)
Evolutionary constrained regions (ECRs) for PET100: view image

Paralogs for PET100 Gene

(1) SIMAP similar genes for PET100 Gene using alignment to 3 proteins:

  • PT100_HUMAN
  • M0QZ55_HUMAN
  • M0R022_HUMAN
genes like me logo Genes that share paralogs with PET100: view

No data available for Paralogs for PET100 Gene

Variants for PET100 Gene

Sequence variations from dbSNP and Humsavar for PET100 Gene

SNP ID Clin Chr 19 pos Variation AA Info Type
rs587777839 pathogenic, Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency, not provided 7,629,836(+) G/C initiator_codon_variant, missense_variant, non_coding_transcript_variant
rs587779779 pathogenic, Congenital lactic acidosis, Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency 7,631,476(+) C/T coding_sequence_variant, non_coding_transcript_variant, stop_gained
rs4134804 likely-benign, not provided 7,630,627(+) G/A/T coding_sequence_variant, missense_variant, non_coding_transcript_variant, stop_gained
rs1057522294 likely-benign, not specified 7,631,458(+) C/G/T intron_variant
rs1057522682 likely-benign, not specified 7,629,815(+) G/C 5_prime_UTR_variant, non_coding_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for PET100 Gene

Variant ID Type Subtype PubMed ID
esv2751809 CNV gain 17911159
nsv1060887 CNV gain 25217958
nsv833730 CNV loss 17160897
nsv833731 CNV loss 17160897
nsv953958 CNV deletion 24416366

Variation tolerance for PET100 Gene

Gene Damage Index Score: 2.90; 48.74% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PET100 Gene

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PET100 Gene

Disorders for PET100 Gene

MalaCards: The human disease database

(4) MalaCards diseases for PET100 Gene - From: HGMD, OMIM, ClinVar, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
mitochondrial complex iv deficiency
  • cytochrome c oxidase deficiency
leigh syndrome with leukodystrophy
  • infantile subacute necrotizing encephalopathy with leukodystrophy
gas gangrene
  • gas bacillus infection
leigh syndrome
  • ls
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for PET100

genes like me logo Genes that share disorders with PET100: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PET100 Gene

Publications for PET100 Gene

  1. Iterative orthology prediction uncovers new mitochondrial proteins and identifies C12orf62 as the human ortholog of COX14, a protein involved in the assembly of cytochrome c oxidase. (PMID: 22356826) Szklarczyk R … Huynen MA (Genome biology 2012) 2 3 4 58
  2. A founder mutation in PET100 causes isolated complex IV deficiency in Lebanese individuals with Leigh syndrome. (PMID: 24462369) Lim SC … Thorburn DR (American journal of human genetics 2014) 2 3 58
  3. MR-1S Interacts with PET100 and PET117 in Module-Based Assembly of Human Cytochrome c Oxidase. (PMID: 28199844) Vidoni S … Zeviani M (Cell reports 2017) 3 58
  4. Identification of intrahepatic cholangiocarcinoma related genes by comparison with normal liver tissues using expressed sequence tags. (PMID: 16712791) Wang AG … Kim NS (Biochemical and biophysical research communications 2006) 3 58
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 58

Products for PET100 Gene

Sources for PET100 Gene

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