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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. GO annotations related to this gene include hydrolase activity, acting on ester bonds and endodeoxyribonuclease activity, producing 5-phosphomonoesters.

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

Regulatory Elements for PTER Gene

Enhancers for PTER Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH10G016439 1.3 FANTOM5 Ensembl ENCODE 16.4 +3.5 3458 2.8 HDAC1 ZNF76 YY1 FOSL1 GATA3 EED TCF7L2 ZNF687 SMAD5 BHLHE40 PTER C1QL3 RNU2-18P
GH10G016470 0.7 ENCODE 24 +34.0 33984 1.0 PKNOX1 DPF2 TCF12 ARID1B EGR1 POLR2A SMARCA4 PBX2 ZSCAN29 ETV6 PTER C1QL3 RNU2-18P
GH10G016436 1 ENCODE 16.2 +0.2 219 1.8 HDGF PKNOX1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143 SP3 PTER RNU2-18P
GH10G016381 0.9 ENCODE 0.2 -55.6 -55627 0.2 PKNOX1 FOXA2 MLX RAD21 DNMT3B RARA FOS CREM MIXL1 MIER2 PTER LOC102724039
GH10G016438 0.2 Ensembl 0.7 +1.8 1758 0.2 PTER RNU2-18P
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PTER on UCSC Golden Path with GeneCards custom track

Promoters for PTER Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000025003 58 1600 HDGF PKNOX1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143 SP3

Genomic Location for PTER Gene

Chromosome:
10
Start:
16,436,943 bp from pter
End:
16,513,745 bp from pter
Size:
76,803 bases
Orientation:
Plus strand

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, isoforms=2302, and isoforms=2343
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for PTER Gene

Domains & Families for PTER Gene

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

No data available for Gene Families for PTER Gene

Function for PTER Gene

Molecular function for PTER Gene

GENATLAS Biochemistry:
phosphotriesterase-related gene

Enzyme Numbers (IUBMB) 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

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

Gene Ontology (GO) - Cellular Components for PTER Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0070062 extracellular exosome IDA 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

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

Primer Products

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 34 35
  • 98.76 (n)
dog
(Canis familiaris)
Mammalia PTER 34 35
  • 86.72 (n)
cow
(Bos Taurus)
Mammalia PTER 34 35
  • 85.67 (n)
mouse
(Mus musculus)
Mammalia Pter 34 16 35
  • 84.53 (n)
rat
(Rattus norvegicus)
Mammalia Pter 34
  • 83.09 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia PTER 35
  • 81 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PTER 35
  • 78 (a)
OneToOne
chicken
(Gallus gallus)
Aves PTER 34 35
  • 71.82 (n)
lizard
(Anolis carolinensis)
Reptilia PTER 35
  • 64 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pter 34
  • 70.96 (n)
Str.4983 34
African clawed frog
(Xenopus laevis)
Amphibia pter-prov 34
zebrafish
(Danio rerio)
Actinopterygii pter 34 35
  • 66.38 (n)
Dr.22743 34
fruit fly
(Drosophila melanogaster)
Insecta CG18473 36 34 35
  • 51.91 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011061 34
  • 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 Sequence Context AA Info Type
rs1000024813 -- 16,443,163(+) TGGAA(G/T)TCCCA intron-variant
rs1000025787 -- 16,482,749(+) CTCTT(G/T)TTCCT intron-variant, upstream-variant-2KB
rs1000025843 -- 16,489,570(+) TATTT(A/T)TTTTT intron-variant
rs1000042996 -- 16,477,632(+) CAGAT(A/G)GGAAA intron-variant
rs1000052805 -- 16,443,176(+) TCAAG(A/G)TGTCA 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)

Relevant External Links 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

(28) MalaCards diseases for PTER Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
chromosome 16p13.3 duplication syndrome
  • 16p13.3 microduplication syndrome
spinocerebellar ataxia type 16
nodular tenosynovitis
  • benign synovioma
chromosome 5p13 duplication syndrome
  • 5p13 microduplication syndrome
bartholin's gland benign neoplasm
  • bartholin gland neoplasm
- elite association - COSMIC cancer census association via MalaCards
Search PTER in MalaCards View complete list of genes associated with diseases

Relevant External Links for PTER

Genetic Association Database (GAD)
PTER
Human Genome Epidemiology (HuGE) Navigator
PTER
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PTER
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. (Nat. Genet. 2009) 3 22 46 64
  2. Assignment1 of phosphotriesterase-related gene (PTER) to human chromosome band 10p12 by in situ hybridization. (PMID: 9925913) Alimova-Kost M.V. … Ninkina N.N. (Cytogenet. Cell Genet. 1998) 2 3 22 64
  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 P.W. (Diabetologia 2010) 3 46 64
  4. Obesity and diabetes genes are associated with being born small for gestational age: results from the Auckland Birthweight Collaborative study. (PMID: 20712903) Morgan A.R. … Mitchell E.A. (BMC Med. Genet. 2010) 3 46 64
  5. Analysis of copy number variation in 8,842 Korean individuals reveals 39 genes associated with hepatic biomarkers AST and ALT. (PMID: 20797317) Kim H.Y. … Kim H. (BMB Rep 2010) 3 46 64

Products for PTER Gene

Sources for PTER Gene

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