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Aliases for PTER Gene

Aliases for PTER Gene

  • Phosphotriesterase Related 2 3 5
  • Parathion Hydrolase-Related Protein 3 4
  • HPHRP 3 4
  • Resiniferatoxin-Binding, Phosphotriesterase-Related 3
  • Phosphotriesterase-Related Protein 3
  • EC 3.1.-.- 4
  • RPR-1 3

External Ids for PTER Gene

Previous GeneCards Identifiers for PTER Gene

  • GC10P016461
  • GC10P016629
  • GC10P016482
  • GC10P016518

Summaries for PTER Gene

GeneCards Summary for PTER Gene

PTER (Phosphotriesterase Related) is a Protein Coding gene. Diseases associated with PTER include Chromosome 16P13.3 Duplication Syndrome and Spinocerebellar Ataxia Type 16. Gene Ontology (GO) annotations related to this gene include hydrolase activity, acting on ester bonds and endodeoxyribonuclease activity, producing 5-phosphomonoesters.

Additional gene information for PTER 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 PTER Gene

Genomics for PTER Gene

GeneHancer (GH) Regulatory Elements for PTER Gene

Promoters and enhancers for PTER 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
GH10I016436 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 566.2 +0.2 190 1.9 HDGF PKNOX1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B ZNF143 PTER RNU2-18P
GH10I016473 Promoter 0.6 EPDnew 561.7 +36.6 36578 0.1 NFIC PTER C1QL3 RNU2-18P
GH10I016484 Promoter 0.5 EPDnew 550.2 +47.3 47329 0.1 PTER C1QL3 RNU2-18P GC10M016512
GH10I016438 Enhancer 0.2 Ensembl 550.8 +1.8 1758 0.2 PTER RNU2-18P
GH10I016439 Enhancer 1.2 FANTOM5 Ensembl ENCODE 16.4 +3.5 3458 2.8 HDAC1 TEAD4 MZF1 ZNF76 BATF YY1 FOSL1 GATA3 ZNF143 CBFA2T2 PTER C1QL3 RNU2-18P
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around PTER on UCSC Golden Path with GeneCards custom track

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

Genomic Locations for PTER Gene

Genomic Locations for PTER Gene
chr10:16,436,943-16,513,745
(GRCh38/hg38)
Size:
76,803 bases
Orientation:
Plus strand
chr10:16,478,942-16,555,736
(GRCh37/hg19)

Genomic View for PTER Gene

Genes around PTER on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for PTER Gene

Proteins for PTER Gene

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

    Protein Symbol:
    Q96BW5-PTER_HUMAN
    Recommended name:
    Phosphotriesterase-related protein
    Protein Accession:
    Q96BW5
    Secondary Accessions:
    • B0YJ77
    • B3KTF5
    • D3DRU0
    • Q9BY46

    Protein attributes for PTER Gene

    Size:
    349 amino acids
    Molecular mass:
    39018 Da
    Cofactor:
    Name=a divalent metal cation; Xref=ChEBI:CHEBI:60240;
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for PTER Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PTER Gene

Post-translational modifications for PTER Gene

  • Ubiquitination at Lys19, Lys302, and isoforms=2343

No data available for DME Specific Peptides for PTER Gene

Domains & Families for PTER Gene

Gene Families for PTER Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for PTER Gene

Suggested Antigen Peptide Sequences for PTER Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q96BW5

UniProtKB/Swiss-Prot:

PTER_HUMAN :
  • Belongs to the metallo-dependent hydrolases superfamily. Phosphotriesterase family.
Family:
  • Belongs to the metallo-dependent hydrolases superfamily. Phosphotriesterase family.
genes like me logo Genes that share domains with PTER: view

Function for PTER Gene

Molecular function for PTER Gene

GENATLAS Biochemistry:
phosphotriesterase-related gene

Enzyme Numbers (IUBMB) for PTER Gene

Phenotypes From GWAS Catalog for PTER Gene

Gene Ontology (GO) - Molecular Function for PTER Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0008270 zinc ion binding IEA --
GO:0016787 hydrolase activity IEA --
GO:0016788 hydrolase activity, acting on ester bonds IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with PTER: view
genes like me logo Genes that share phenotypes with PTER: view

Animal Model Products

CRISPR Products

miRNA for PTER Gene

miRTarBase miRNAs that target PTER

Inhibitory RNA Products

Clone Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PTER Gene

Localization for PTER Gene

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 PTER gene
Compartment Confidence
extracellular 5
cytosol 4
nucleus 3
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1

Subcellular locations from the

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

Gene Ontology (GO) - Cellular Components for PTER Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0070062 extracellular exosome IDA,HDA 19056867
genes like me logo Genes that share ontologies with PTER: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for PTER Gene

Pathways & Interactions for PTER Gene

No Data Available

Gene Ontology (GO) - Biological Process for PTER Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0009056 catabolic process IEA --
GO:0030855 epithelial cell differentiation IEP 21492153
genes like me logo Genes that share ontologies with PTER: view

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

Drugs & Compounds for PTER Gene

No Compound Related Data Available

Transcripts for PTER Gene

Unigene Clusters for PTER Gene

Phosphotriesterase related:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

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

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b · 7c · 7d
SP1: - -
SP2: - - -
SP3: - - - -
SP4: - - - -
SP5: - - -
SP6:
SP7: - - -
SP8:
SP9: -

Relevant External Links for PTER Gene

GeneLoc Exon Structure for
PTER
ECgene alternative splicing isoforms for
PTER

Expression for PTER Gene

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

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

This gene is overexpressed in Brain - Anterior cingulate cortex (BA24) (x8.3), Brain - Frontal Cortex (BA9) (x5.4), and Brain - Hippocampus (x4.0).

Protein differential expression in normal tissues from HIPED for PTER Gene

This gene is overexpressed in Kidney (10.3) and Skin (8.1).

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



Protein tissue co-expression partners for PTER Gene

NURSA nuclear receptor signaling pathways regulating expression of PTER Gene:

PTER

SOURCE GeneReport for Unigene cluster for PTER Gene:

Hs.745101

Evidence on tissue expression from TISSUES for PTER Gene

  • Nervous system(4.5)
  • Liver(4.3)
  • Kidney(2.2)
  • Blood(2.1)
  • Lung(2)
  • Skin(2)
genes like me logo Genes that share expression patterns with PTER: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for PTER Gene

Orthologs for PTER Gene

This gene was present in the common ancestor of animals.

Orthologs for PTER Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PTER 33 34
  • 98.76 (n)
dog
(Canis familiaris)
Mammalia PTER 33 34
  • 86.72 (n)
cow
(Bos Taurus)
Mammalia PTER 33 34
  • 85.67 (n)
mouse
(Mus musculus)
Mammalia Pter 33 16 34
  • 84.53 (n)
rat
(Rattus norvegicus)
Mammalia Pter 33
  • 83.09 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia PTER 34
  • 81 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PTER 34
  • 78 (a)
OneToOne
chicken
(Gallus gallus)
Aves PTER 33 34
  • 71.82 (n)
lizard
(Anolis carolinensis)
Reptilia PTER 34
  • 64 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pter 33
  • 70.96 (n)
Str.4983 33
African clawed frog
(Xenopus laevis)
Amphibia pter-prov 33
zebrafish
(Danio rerio)
Actinopterygii pter 33 34
  • 66.38 (n)
Dr.22743 33
fruit fly
(Drosophila melanogaster)
Insecta CG18473 35 33 34
  • 51.91 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011061 33
  • 51.07 (n)
Species where no ortholog for PTER was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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)
  • 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 PTER Gene

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

Paralogs for PTER Gene

No data available for Paralogs for PTER Gene

Variants for PTER Gene

Sequence variations from dbSNP and Humsavar for PTER Gene

SNP ID Clin Chr 10 pos Variation AA Info Type
rs1000024813 -- 16,443,163(+) G/T genic_upstream_transcript_variant, intron_variant
rs1000025787 -- 16,482,749(+) G/T genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000025843 -- 16,489,570(+) A/T intron_variant
rs1000042996 -- 16,477,632(+) G/A genic_upstream_transcript_variant, intron_variant
rs1000052805 -- 16,443,176(+) G/A genic_upstream_transcript_variant, intron_variant

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

Variant ID Type Subtype PubMed ID
esv3305363 CNV mobile element insertion 20981092
esv3342451 CNV insertion 20981092
esv3578655 CNV loss 25503493
esv3622471 CNV loss 21293372
nsv1046833 CNV gain 25217958
nsv466757 CNV loss 19166990
nsv515521 CNV loss 19592680
nsv550019 CNV loss 21841781

Variation tolerance for PTER Gene

Residual Variation Intolerance Score: 55.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.64; 45.58% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PTER Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PTER

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

Disorders for PTER Gene

MalaCards: The human disease database

(26) MalaCards diseases for PTER Gene - From: DISEASES

Disorder Aliases PubMed IDs
chromosome 16p13.3 duplication syndrome
  • 16p13.3 microduplication syndrome
spinocerebellar ataxia type 16
potocki-luspski syndrome
  • 17p11.2 microduplication syndrome
nodular tenosynovitis
  • benign synovioma
chromosomal deletion syndrome
- elite association - COSMIC cancer census association via MalaCards
Search PTER in MalaCards View complete list of genes associated with diseases

Additional Disease Information for PTER

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 PTER: view

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

Publications for PTER Gene

  1. Genome-wide association study for early-onset and morbid adult obesity identifies three new risk loci in European populations. (PMID: 19151714) Meyre D … Froguel P (Nature genetics 2009) 3 22 44 58
  2. Assignment1 of phosphotriesterase-related gene (PTER) to human chromosome band 10p12 by in situ hybridization. (PMID: 9925913) Alimova-Kost MV … Ninkina NN (Cytogenetics and cell genetics 1998) 2 3 22 58
  3. Evaluating the discriminative power of multi-trait genetic risk scores for type 2 diabetes in a northern Swedish population. (PMID: 20571754) Fontaine-Bisson B … Franks PW (Diabetologia 2010) 3 44 58
  4. Obesity and diabetes genes are associated with being born small for gestational age: results from the Auckland Birthweight Collaborative study. (PMID: 20712903) Morgan AR … Mitchell EA (BMC medical genetics 2010) 3 44 58
  5. Analysis of copy number variation in 8,842 Korean individuals reveals 39 genes associated with hepatic biomarkers AST and ALT. (PMID: 20797317) Kim HY … Kim H (BMB reports 2010) 3 44 58

Products for PTER Gene

Sources for PTER Gene

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