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Aliases for PET117 Gene

Aliases for PET117 Gene

  • PET117 Homolog 2 3 5
  • Protein PET117 Homolog, Mitochondrial 3
  • PET117 Homolog (S. Cerevisiae) 2
  • Alternative Protein CSRP2BP 3
  • CSRP2BP 3

External Ids for PET117 Gene

Previous GeneCards Identifiers for PET117 Gene

  • GC00U923309

Summaries for PET117 Gene

GeneCards Summary for PET117 Gene

PET117 (PET117 Homolog) is a Protein Coding gene. Diseases associated with PET117 include Mitochondrial Complex Iv Deficiency.

Additional gene information for PET117 Gene

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PET117 Gene

Genomics for PET117 Gene

GeneHancer (GH) Regulatory Elements for PET117 Gene

Promoters and enhancers for PET117 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
GH20J018136 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE 650.7 +0.8 763 3.7 CLOCK SMAD1 FOXA2 ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B KAT14 PET117 ZNF133 LOC100270804 LOC100286962 LOC100529052 GC20P018220
GH20J018142 Promoter 0.5 EPDnew 0.7 +4.9 4887 0.1 KAT14 PET117 LOC100529052 GC20P018220
GH20J018133 Enhancer 0.2 ENCODE 0.7 -3.6 -3560 0.8 PET117 ENSG00000207282 GC20M018113
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PET117 on UCSC Golden Path with GeneCards custom track

Genomic Locations for PET117 Gene

Genomic Locations for PET117 Gene
chr20:18,137,855-18,143,169
(GRCh38/hg38)
Size:
5,315 bases
Orientation:
Plus strand
chr20:18,118,499-18,123,813
(GRCh37/hg19)
Size:
5,315 bases
Orientation:
Plus strand

Genomic View for PET117 Gene

Genes around PET117 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PET117 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PET117 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PET117 Gene

Proteins for PET117 Gene

  • Protein details for PET117 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6UWS5-PT117_HUMAN
    Recommended name:
    Protein PET117 homolog, mitochondrial
    Protein Accession:
    Q6UWS5

    Protein attributes for PET117 Gene

    Size:
    81 amino acids
    Molecular mass:
    9223 Da
    Quaternary structure:
    No Data Available

neXtProt entry for PET117 Gene

Post-translational modifications for PET117 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PET117 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for PET117 Gene

Domains & Families for PET117 Gene

Gene Families for PET117 Gene

Human Protein Atlas (HPA):
  • Predicted secreted proteins

Protein Domains for PET117 Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q6UWS5

UniProtKB/Swiss-Prot:

PT117_HUMAN :
  • Belongs to the PET117 family.
Family:
  • Belongs to the PET117 family.
genes like me logo Genes that share domains with PET117: view

No data available for Suggested Antigen Peptide Sequences for PET117 Gene

Function for PET117 Gene

Phenotypes From GWAS Catalog for PET117 Gene

Animal Model Products

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Phenotypes , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PET117 Gene

Localization for PET117 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PET117 Gene

Mitochondrion.

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 PET117 gene
Compartment Confidence
mitochondrion 5
extracellular 3

Gene Ontology (GO) - Cellular Components for PET117 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IDA 22356826
genes like me logo Genes that share ontologies with PET117: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for PET117 Gene

Pathways & Interactions for PET117 Gene

SuperPathways for PET117 Gene

No Data Available

Interacting Proteins for PET117 Gene

Gene Ontology (GO) - Biological Process for PET117 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0033617 mitochondrial respiratory chain complex IV assembly IBA --
genes like me logo Genes that share ontologies with PET117: view

No data available for Pathways by source and SIGNOR curated interactions for PET117 Gene

Drugs & Compounds for PET117 Gene

No Compound Related Data Available

Transcripts for PET117 Gene

mRNA/cDNA for PET117 Gene

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

Unigene Clusters for PET117 Gene

PET117 homolog (S. cerevisiae):
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for PET117 Gene

No ASD Table

Relevant External Links for PET117 Gene

GeneLoc Exon Structure for
PET117
ECgene alternative splicing isoforms for
PET117

Expression for PET117 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PET117 Gene

mRNA expression in normal human tissues for PET117 Gene

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PET117 Gene



NURSA nuclear receptor signaling pathways regulating expression of PET117 Gene:

PET117

SOURCE GeneReport for Unigene cluster for PET117 Gene:

Hs.488051
genes like me logo Genes that share expression patterns with PET117: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for PET117 Gene

Orthologs for PET117 Gene

This gene was present in the common ancestor of animals.

Orthologs for PET117 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PET117 34
  • 100 (a)
OneToOne
dog
(Canis familiaris)
Mammalia LOC100688040 33
  • 93 (n)
mouse
(Mus musculus)
Mammalia Pet117 16 34 33
  • 90.42 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG11562 34
  • 28 (a)
OneToOne
Species where no ortholog for PET117 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)
  • cow (Bos Taurus)
  • 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)
  • rat (Rattus norvegicus)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for PET117 Gene

ENSEMBL:
Gene Tree for PET117 (if available)
TreeFam:
Gene Tree for PET117 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PET117: view image

Paralogs for PET117 Gene

(1) SIMAP similar genes for PET117 Gene using alignment to 1 proteins:

  • PT117_HUMAN

Pseudogenes.org Pseudogenes for PET117 Gene

genes like me logo Genes that share paralogs with PET117: view

No data available for Paralogs for PET117 Gene

Variants for PET117 Gene

Sequence variations from dbSNP and Humsavar for PET117 Gene

SNP ID Clin Chr 20 pos Variation AA Info Type
rs1000376615 -- 18,137,270(+) T/A/C upstream_transcript_variant
rs1000407681 -- 18,137,489(+) G/C upstream_transcript_variant
rs1001363401 -- 18,141,474(+) TTTTTT/TTTTTTT intron_variant
rs1001413040 -- 18,142,994(+) G/A 3_prime_UTR_variant
rs1002079537 -- 18,136,108(+) G/A upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for PET117 Gene

Variant ID Type Subtype PubMed ID
nsv585665 CNV gain 21841781
nsv833933 CNV gain 17160897

Variation tolerance for PET117 Gene

Gene Damage Index Score: 1.05; 21.52% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PET117 Gene

Human Gene Mutation Database (HGMD)
PET117
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PET117

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PET117 Gene

Disorders for PET117 Gene

MalaCards: The human disease database

(1) MalaCards diseases for PET117 Gene - From: Orphanet

Disorder Aliases PubMed IDs
mitochondrial complex iv deficiency
  • cytochrome c oxidase deficiency
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for PET117

genes like me logo Genes that share disorders with PET117: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PET117 Gene

Publications for PET117 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) 3 4 58
  2. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PMID: 12975309) Clark HF … Gray A (Genome research 2003) 3 4 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. Mutated PET117 causes complex IV deficiency and is associated with neurodevelopmental regression and medulla oblongata lesions. (PMID: 28386624) Renkema GH … Rodenburg RJT (Human genetics 2017) 3 58
  5. The DNA sequence and comparative analysis of human chromosome 20. (PMID: 11780052) Deloukas P … Rogers J (Nature 2001) 4 58

Products for PET117 Gene

Sources for PET117 Gene

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