This locus represents naturally occurring read-through transcription between the adjacent PPAN and P2RY11 genes. Alternative splicing results in two transcript variants, one of which encodes a fusion protein that shares sequence identity with each individual gene product. This transcript is found to be ubiquitously expressed and is up-regulated by agents inducing granulocytic d... See more...

Aliases for PPAN-P2RY11 Gene

Aliases for PPAN-P2RY11 Gene

  • PPAN-P2RY11 Readthrough 2 3 5 13
  • PPAN-P2RY11 Readthrough Transcript 3
  • Brix Domain-Containing Protein 3 3
  • Suppressor Of SWI4 1 Homolog 3
  • PPAN-P2RY11 Protein 3
  • P2Y Purinoceptor 11 3
  • Protein PPAN-P2RY11 13
  • SSF1/P2Y11 Protein 3
  • Peter Pan Homolog 3
  • PPAN-P2RY11 5
  • HCG2039996 13
  • P2RY11 3
  • BXDC3 3
  • P2Y11 3
  • Ssf-1 3
  • PPAN 3
  • SSF1 3

External Ids for PPAN-P2RY11 Gene

Previous GeneCards Identifiers for PPAN-P2RY11 Gene

  • GC19U900588
  • GC19P010078
  • GC19P010217
  • GC19P009820

Summaries for PPAN-P2RY11 Gene

Entrez Gene Summary for PPAN-P2RY11 Gene

  • This locus represents naturally occurring read-through transcription between the adjacent PPAN and P2RY11 genes. Alternative splicing results in two transcript variants, one of which encodes a fusion protein that shares sequence identity with each individual gene product. This transcript is found to be ubiquitously expressed and is up-regulated by agents inducing granulocytic differentiation. However, its functional significance in vivo remains unclear. [provided by RefSeq, Nov 2010]

GeneCards Summary for PPAN-P2RY11 Gene

PPAN-P2RY11 (PPAN-P2RY11 Readthrough) is a Protein Coding gene. Diseases associated with PPAN-P2RY11 include Narcolepsy. Gene Ontology (GO) annotations related to this gene include G protein-coupled receptor activity. An important paralog of this gene is PPAN.

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PPAN-P2RY11 Gene

Genomics for PPAN-P2RY11 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for PPAN-P2RY11 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
GH19J010100 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 250.7 -1.8 -1836 8.3 CHD2 SP1 BCL11A MXD4 CEBPA SIX5 NR2C1 MNT SMAD5 ETS1 PPAN ANGPTL6 PPAN-P2RY11 ILF3 ZNF699 LOC100419831 ZNF317 KRI1 FBXL12 ZNF559
GH19J010192 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 11.7 +88.1 88086 3.4 TBP ZBTB10 SP1 SIX5 MNT IKZF1 SMAD5 ETS1 IRF2 MBD2 DNMT1 PPAN ILF3 ENSG00000270614 ENSG00000267510 ZNF559 PPAN-P2RY11 ANGPTL6 ZNF699 KRI1
GH19J010198 Promoter/Enhancer 1 Ensembl ENCODE 11.4 +93.9 93894 3.4 ZNF316 PRDM10 ZNF362 ZBTB40 ZNF384 CEBPB IKZF1 L3MBTL2 HLF RUNX3 lnc-S1PR2-3 SHFL ANGPTL6 S1PR2 MRPL4 ICAM1 EIF3G P2RY11 PPAN PPAN-P2RY11
GH19J010191 Enhancer 0.7 ENCODE 11.7 +85.3 85251 0.9 CEBPA FOXA2 SAP130 RXRA RARA TEAD3 JUND HNF4A RAD21 ZNF652 PPAN PPAN-P2RY11 ANGPTL6 SHFL RF00017-2800 lnc-S1PR2-3 DNMT1 EIF3G
GH19J010071 Enhancer 0.6 ENCODE 11.9 -34.9 -34923 0.2 RXRA FOXA2 ZBTB33 JUND HNF4A FOXA1 RAD21 MAX SP1 EGR1 HSALNG0123887 PPAN PPAN-P2RY11 ANGPTL6 RDH8 COL5A3 EIF3G OLFM2 SHFL lnc-RDH8-3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PPAN-P2RY11 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PPAN-P2RY11

Top Transcription factor binding sites by QIAGEN in the PPAN-P2RY11 gene promoter:
  • AML1a
  • AREB6
  • c-Myc
  • Egr-2
  • GATA-2
  • HOXA5
  • LCR-F1
  • Max
  • Zic3

Genomic Locations for PPAN-P2RY11 Gene

Latest Assembly
chr19:10,106,223-10,115,372
(GRCh38/hg38)
Size:
9,150 bases
Orientation:
Plus strand

Previous Assembly
chr19:10,217,038-10,226,048
(GRCh37/hg19 by Entrez Gene)
Size:
9,011 bases
Orientation:
Plus strand

chr19:10,216,899-10,225,456
(GRCh37/hg19 by Ensembl)
Size:
8,558 bases
Orientation:
Plus strand

Genomic View for PPAN-P2RY11 Gene

Genes around PPAN-P2RY11 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PPAN-P2RY11 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PPAN-P2RY11 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PPAN-P2RY11 Gene

Proteins for PPAN-P2RY11 Gene

  • Protein details for PPAN-P2RY11 Gene (UniProtKB/TrEMBL)

    Protein Symbol:
    A0A0B4J1V8-A0A0B4J1V8_HUMAN
    Recommended name:
    HCG2039996
    Protein Accession:
    A0A0B4J1V8

    Protein attributes for PPAN-P2RY11 Gene

    Size:
    794 amino acids
    Molecular mass:
    87918 Da
    Quaternary structure:
    No Data Available
  • Protein details for PPAN-P2RY11 Gene (UniProtKB/TrEMBL)

    Protein Symbol:
    A0A0A6YYI3-A0A0A6YYI3_HUMAN
    Recommended name:
    Protein PPAN-P2RY11
    Protein Accession:
    A0A0A6YYI3

    Protein attributes for PPAN-P2RY11 Gene

    Size:
    520 amino acids
    Molecular mass:
    58199 Da
    Quaternary structure:
    No Data Available

neXtProt entry for PPAN-P2RY11 Gene

Post-translational modifications for PPAN-P2RY11 Gene

No Post-translational modifications

Other Protein References for PPAN-P2RY11 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for PPAN-P2RY11 Gene

Domains & Families for PPAN-P2RY11 Gene

Gene Families for PPAN-P2RY11 Gene

Unknown:
  • Belongs to the G-protein coupled receptor 1 family.
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for PPAN-P2RY11 Gene

genes like me logo Genes that share domains with PPAN-P2RY11: view

No data available for Suggested Antigen Peptide Sequences , Graphical View of Domain Structure and UniProtKB/Swiss-Prot for PPAN-P2RY11 Gene

Function for PPAN-P2RY11 Gene

Phenotypes From GWAS Catalog for PPAN-P2RY11 Gene

Gene Ontology (GO) - Molecular Function for PPAN-P2RY11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004930 G protein-coupled receptor activity IEA --
GO:0030594 neurotransmitter receptor activity IEA --
GO:0045031 ATP-activated adenosine receptor activity IEA --
genes like me logo Genes that share ontologies with PPAN-P2RY11: view
genes like me logo Genes that share phenotypes with PPAN-P2RY11: view

Animal Models for research

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PPAN-P2RY11

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PPAN-P2RY11 Gene

Localization for PPAN-P2RY11 Gene

Gene Ontology (GO) - Cellular Components for PPAN-P2RY11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005730 nucleolus IEA --
GO:0005886 plasma membrane IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with PPAN-P2RY11: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from COMPARTMENTS and Subcellular locations from the Human Protein Atlas (HPA) for PPAN-P2RY11 Gene

Pathways & Interactions for PPAN-P2RY11 Gene

PathCards logo

SuperPathways for PPAN-P2RY11 Gene

No Data Available

Gene Ontology (GO) - Biological Process for PPAN-P2RY11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007165 signal transduction IEA --
GO:0007186 G protein-coupled receptor signaling pathway IEA --
GO:0023041 neuronal signal transduction IEA --
GO:0035589 G protein-coupled purinergic nucleotide receptor signaling pathway IEA --
genes like me logo Genes that share ontologies with PPAN-P2RY11: view

No data available for Pathways by source and SIGNOR curated interactions for PPAN-P2RY11 Gene

Drugs & Compounds for PPAN-P2RY11 Gene

No Compound Related Data Available

Transcripts for PPAN-P2RY11 Gene

mRNA/cDNA for PPAN-P2RY11 Gene

2 REFSEQ mRNAs :
3 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PPAN-P2RY11

Alternative Splicing Database (ASD) splice patterns (SP) for PPAN-P2RY11 Gene

No ASD Table

Relevant External Links for PPAN-P2RY11 Gene

GeneLoc Exon Structure for
PPAN-P2RY11

Expression for PPAN-P2RY11 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PPAN-P2RY11 Gene

Integrated Proteomics: protein expression in normal tissues and cell lines from MaxQB and MOPED for PPAN-P2RY11 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PPAN-P2RY11

genes like me logo Genes that share expression patterns with PPAN-P2RY11: view

Primer products for research

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 PPAN-P2RY11 Gene

Orthologs for PPAN-P2RY11 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for PPAN-P2RY11 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia PPAN 31
  • 89 (a)
OneToMany
Dog
(Canis familiaris)
Mammalia P2RY11 31
  • 81 (a)
OneToMany
Cow
(Bos Taurus)
Mammalia PPAN-P2RY11 31
  • 75 (a)
OneToMany
Mouse
(Mus musculus)
Mammalia Ppan 31
  • 73 (a)
OneToMany
Oppossum
(Monodelphis domestica)
Mammalia PPAN 31
  • 65 (a)
OneToMany
Platypus
(Ornithorhynchus anatinus)
Mammalia PPAN 31
  • 58 (a)
OneToMany
Lizard
(Anolis carolinensis)
Reptilia -- 31
  • 51 (a)
OneToMany
Zebrafish
(Danio rerio)
Actinopterygii ppan 31
  • 49 (a)
OneToMany
Fruit Fly
(Drosophila melanogaster)
Insecta ppan 31
  • 35 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea lpd-6 31
  • 25 (a)
OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SSF1 31
  • 33 (a)
ManyToMany
SSF2 31
  • 32 (a)
ManyToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.2660 31
  • 41 (a)
OneToMany
Species where no ortholog for PPAN-P2RY11 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
  • 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)
  • 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)
  • Rat (Rattus norvegicus)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • 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)

Evolution for PPAN-P2RY11 Gene

ENSEMBL:
Gene Tree for PPAN-P2RY11 (if available)
TreeFam:
Gene Tree for PPAN-P2RY11 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PPAN-P2RY11: view image

Paralogs for PPAN-P2RY11 Gene

Paralogs for PPAN-P2RY11 Gene

genes like me logo Genes that share paralogs with PPAN-P2RY11: view

Variants for PPAN-P2RY11 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PPAN-P2RY11 Gene

SNP ID Clinical significance and condition Chr 19 pos Variation AA Info Type
rs111752629 Likely Benign: not provided 10,114,462(+) G/A
NM_002566.5(P2RY11):c.849G>A (p.Pro283=)
SYNONYMOUS_VARIANT,THREE_PRIME_UTR
rs115986278 Benign: not provided 10,114,261(+) G/A
NM_002566.5(P2RY11):c.648G>A (p.Leu216=)
SYNONYMOUS_VARIANT,THREE_PRIME_UTR
rs12460842 Association: Cataplexy and narcolepsy 10,111,519(+) A/G
NM_020230.7(PPAN):c.*354A>G
THREE_PRIME_UTR_VARIANT,INTRON
rs138801877 Likely Benign: not provided 10,114,297(+) C/T
NM_002566.5(P2RY11):c.684C>T (p.Leu228=)
SYNONYMOUS_VARIANT,THREE_PRIME_UTR
rs139151367 Likely Benign: not provided 10,113,953(+) C/T
NM_002566.5(P2RY11):c.340C>T (p.Leu114=)
SYNONYMOUS_VARIANT,THREE_PRIME_UTR

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for PPAN-P2RY11 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for PPAN-P2RY11 Gene

Variant ID Type Subtype PubMed ID
nsv833743 CNV loss 17160897

Variation tolerance for PPAN-P2RY11 Gene

Residual Variation Intolerance Score: 94.8% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PPAN-P2RY11 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PPAN-P2RY11

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PPAN-P2RY11 Gene

Disorders for PPAN-P2RY11 Gene

MalaCards: The human disease database

(1) MalaCards diseases for PPAN-P2RY11 Gene - From: GCD

Disorder Aliases PubMed IDs
narcolepsy
  • narcolepsy, without cataplexy
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for PPAN-P2RY11

genes like me logo Genes that share disorders with PPAN-P2RY11: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PPAN-P2RY11 Gene

Publications for PPAN-P2RY11 Gene

  1. A High-Density Human Mitochondrial Proximity Interaction Network. (PMID: 32877691) Antonicka H … Shoubridge EA (Cell metabolism 2020) 3
  2. High-Density Proximity Mapping Reveals the Subcellular Organization of mRNA-Associated Granules and Bodies. (PMID: 29395067) Youn JY … Gingras AC (Molecular cell 2018) 3
  3. PTPN14 regulates Roquin2 stability by tyrosine dephosphorylation. (PMID: 30209976) Choi J … Busino L (Cell cycle (Georgetown, Tex.) 2018) 3
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3
  5. A Role for Mitochondrial Translation in Promotion of Viability in K-Ras Mutant Cells. (PMID: 28700943) Martin TD … Elledge SJ (Cell reports 2017) 3

Products for PPAN-P2RY11 Gene

Sources for PPAN-P2RY11 Gene