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Aliases for PIANP Gene

Aliases for PIANP Gene

  • PILR Alpha Associated Neural Protein 2 3 5
  • PILR-Associating Neural Protein 2 3 4
  • Paired Immunoglobin-Like Type 2 Receptor-Associating Neural Protein 3 4
  • PILR Alpha-Associated Neural Protein 3 4
  • C12orf53 3 4
  • PANP 3 4
  • Liver Endothelial Differentiation-Associated Protein-1 3
  • Chromosome 12 Open Reading Frame 53 2
  • Leda-1 3
  • LEDA1 3

External Ids for PIANP Gene

Previous HGNC Symbols for PIANP Gene

  • C12orf53

Previous GeneCards Identifiers for PIANP Gene

  • GC12M006803

Summaries for PIANP Gene

Entrez Gene Summary for PIANP Gene

  • This gene encodes a ligand for the paired immunoglobin-like type 2 receptor alpha, and so may be involved in immune regulation. Alternate splicing results in multiple transcript variants encoding different proteins. [provided by RefSeq, Sep 2011]

GeneCards Summary for PIANP Gene

PIANP (PILR Alpha Associated Neural Protein) is a Protein Coding gene. Diseases associated with PIANP include Diabetic Autonomic Neuropathy.

UniProtKB/Swiss-Prot for PIANP Gene

  • Acts as a ligand for PILRA in neural tissues, where it may be involved in immune regulation.

Additional gene information for PIANP Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PIANP Gene

Genomics for PIANP Gene

GeneHancer (GH) Regulatory Elements for PIANP Gene

Promoters and enhancers for PIANP 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
GH12J006699 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE 600.7 +0.5 463 2 ZNF473 ZNF652 ZNF121 PRDM1 GLIS2 IKZF1 ZBTB8A ZNF300 PRDM10 ZNF512 PIANP ENSG00000219410 CHD4 VAMP1 MRPL51 ZNF384
GH12J006788 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 11.1 -90.2 -90233 5 ZNF652 ELF3 CEBPG ZNF687 TFE3 PPARG SP5 IKZF1 KAT8 SOX13 CD4 LPAR5 GPR162 P3H3 PTPN6 ING4 PTMS MLF2 GNB3 PIANP
GH12J006777 Promoter/Enhancer 1.8 Ensembl ENCODE dbSUPER 10.8 -78.1 -78137 2.9 SP1 CC2D1A CTCF ELF3 MNT ZNF148 NKRF MLLT1 GTF2F1 ZSCAN21 GPR162 P3H3 EMG1 ZNF384 ING4 ENSG00000219410 PIANP NOP2 ACRBP LPAR5
GH12J006784 Promoter/Enhancer 1.3 Ensembl ENCODE dbSUPER 10.5 -85.1 -85072 3.3 MAFK ZNF341 ZNF316 MAFG ZFHX2 ZNF223 MAFF EMSY CD4 RN7SL380P GPR162 P3H3 ZNF384 ING4 ENSG00000219410 ACRBP PIANP LPAR5
GH12J005796 Enhancer 0.9 Ensembl 14.5 +904.3 904342 0.2 ZNF473 MTA3 RAD21 ZNF680 HDGF CREB1 ARID2 ZNF544 ZNF300 TARDBP ZNF384 CHD4 ENSG00000219410 ING4 ENSG00000247853 PIANP KCNA1 NOP2 GC12P006217 GC12P006208
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PIANP on UCSC Golden Path with GeneCards custom track

Genomic Locations for PIANP Gene

Genomic Locations for PIANP Gene
chr12:6,690,934-6,700,843
(GRCh38/hg38)
Size:
9,910 bases
Orientation:
Minus strand
chr12:6,802,957-6,809,966
(GRCh37/hg19)
Size:
7,010 bases
Orientation:
Minus strand

Genomic View for PIANP Gene

Genes around PIANP on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for PIANP Gene

Proteins for PIANP Gene

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

    Protein Symbol:
    Q8IYJ0-PIANP_HUMAN
    Recommended name:
    PILR alpha-associated neural protein
    Protein Accession:
    Q8IYJ0
    Secondary Accessions:
    • A8K0T3
    • B3KPF7
    • B3KRI6
    • Q6UX35

    Protein attributes for PIANP Gene

    Size:
    282 amino acids
    Molecular mass:
    30076 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for PIANP Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PIANP Gene

Post-translational modifications for PIANP Gene

  • O-glycosylation at Thr-140 is essential for recognition by PILRA.
  • Glycosylation at isoforms=2140
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for PIANP Gene

Domains & Families for PIANP Gene

Gene Families for PIANP Gene

Human Protein Atlas (HPA):
  • Predicted membrane proteins
  • Predicted secreted proteins

Protein Domains for PIANP Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for PIANP Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ75545 (A8K0T3_HUMAN)

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with PIANP: view

No data available for UniProtKB/Swiss-Prot for PIANP Gene

Function for PIANP Gene

Molecular function for PIANP Gene

UniProtKB/Swiss-Prot Function:
Acts as a ligand for PILRA in neural tissues, where it may be involved in immune regulation.

Phenotypes From GWAS Catalog for PIANP Gene

genes like me logo Genes that share phenotypes with PIANP: view

Animal Model Products

  • Taconic Biosciences Mouse Models for PIANP

CRISPR Products

Inhibitory RNA Products

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

Clone Products

  • Applied Biological Materials (abm): Clones for PIANP - Now 50% OFF >
  • * PIANP as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * PIANP tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All

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

Localization for PIANP Gene

Subcellular locations from UniProtKB/Swiss-Prot for PIANP Gene

Membrane; Single-pass type I membrane protein.

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 PIANP gene
Compartment Confidence
plasma membrane 4

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for PIANP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005912 adherens junction ISS --
GO:0016020 membrane IEA,IBA 21873635
GO:0016021 integral component of membrane IEA --
GO:0016323 basolateral plasma membrane ISS --
genes like me logo Genes that share ontologies with PIANP: view

Pathways & Interactions for PIANP Gene

PathCards logo

SuperPathways for PIANP Gene

No Data Available

Interacting Proteins for PIANP Gene

Gene Ontology (GO) - Biological Process for PIANP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0050776 regulation of immune response TAS,IEA --
genes like me logo Genes that share ontologies with PIANP: view

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

Drugs & Compounds for PIANP Gene

No Compound Related Data Available

Transcripts for PIANP Gene

Unigene Clusters for PIANP Gene

PILR alpha associated neural protein:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

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

Clone Products

  • Applied Biological Materials (abm): Clones for PIANP - Now 50% OFF >
  • * PIANP as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * PIANP tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All

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

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7 ^ 8a · 8b ^ 9
SP1: -
SP2: - - -
SP3: - - -
SP4: - -
SP5: -
SP6:
SP7:

Relevant External Links for PIANP Gene

GeneLoc Exon Structure for
PIANP
ECgene alternative splicing isoforms for
PIANP

Expression for PIANP Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Brain - Nucleus accumbens (basal ganglia) (x5.5), Brain - Putamen (basal ganglia) (x4.8), Brain - Frontal Cortex (BA9) (x4.3), Brain - Anterior cingulate cortex (BA24) (x4.2), and Brain - Caudate (basal ganglia) (x4.2).

Protein differential expression in normal tissues from HIPED for PIANP Gene

This gene is overexpressed in Frontal cortex (69.0).

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



Protein tissue co-expression partners for PIANP Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PIANP Gene:

PIANP

SOURCE GeneReport for Unigene cluster for PIANP Gene:

Hs.44067

mRNA Expression by UniProt/SwissProt for PIANP Gene:

Q8IYJ0-PIANP_HUMAN
Tissue specificity: Mainly expressed in adult brain and cerebellum. Weaker expression in fetal brain and virtually no expression in spleen, heart, kidney, liver and dorsal ganglion relative to brain.

Evidence on tissue expression from TISSUES for PIANP Gene

  • Nervous system(4.5)
genes like me logo Genes that share expression patterns with PIANP: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for PIANP Gene

Orthologs for PIANP Gene

This gene was present in the common ancestor of chordates.

Orthologs for PIANP Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia C12ORF53 35
  • 100 (a)
OneToOne
PIANP 34
  • 99.52 (n)
cow
(Bos Taurus)
Mammalia C5H12ORF53 35
  • 98 (a)
OneToOne
PIANP 34
  • 91.3 (n)
dog
(Canis familiaris)
Mammalia PIANP 35
  • 96 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PIANP 35
  • 91 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pianp 34
  • 89.87 (n)
mouse
(Mus musculus)
Mammalia Pianp 17 35 34
  • 89.13 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia PIANP 35
  • 80 (a)
OneToOne
chicken
(Gallus gallus)
Aves C1H12ORF53 34
  • 69.43 (n)
PIANP 35
  • 63 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PIANP 35
  • 52 (a)
OneToOne
Species where no ortholog for PIANP 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)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for PIANP Gene

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

Paralogs for PIANP Gene

No data available for Paralogs for PIANP Gene

Variants for PIANP Gene

Sequence variations from dbSNP and Humsavar for PIANP Gene

SNP ID Clin Chr 12 pos Variation AA Info Type
rs1000914172 -- 6,693,759(-) G/A/C/T downstream_transcript_variant, genic_downstream_transcript_variant, intron_variant
rs1001128411 -- 6,690,753(-) G/C 3_prime_UTR_variant, genic_downstream_transcript_variant
rs1001137702 -- 6,691,369(-) C/T 3_prime_UTR_variant, genic_downstream_transcript_variant
rs1001249179 -- 6,697,715(-) G/A coding_sequence_variant, missense_variant
rs1001634866 -- 6,700,313(-) G/C 5_prime_UTR_variant, intron_variant

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

Variant ID Type Subtype PubMed ID
esv2761725 CNV gain 21179565
esv3580394 CNV gain 25503493
nsv832322 CNV loss 17160897
nsv832323 CNV loss 17160897

Variation tolerance for PIANP Gene

Residual Variation Intolerance Score: 49.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.72; 15.24% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PIANP Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for PIANP Gene

MalaCards: The human disease database

(1) MalaCards diseases for PIANP Gene - From: HGMD and DISEASES

Disorder Aliases PubMed IDs
diabetic autonomic neuropathy
  • diabetic neuropathies
- elite association - COSMIC cancer census association via MalaCards
Search PIANP in MalaCards View complete list of genes associated with diseases

Additional Disease Information for PIANP

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

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

Publications for PIANP Gene

  1. 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) 2 3 4 58
  2. PANP is a novel O-glycosylated PILRα ligand expressed in neural tissues. (PMID: 21241660) Kogure A … Arase H (Biochemical and biophysical research communications 2011) 3 4 58
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  5. Leda-1/Pianp is targeted to the basolateral plasma membrane by a distinct intracellular juxtamembrane region and modulates barrier properties and E-Cadherin processing. (PMID: 27216462) Evdokimov K … Géraud C (Biochemical and biophysical research communications 2016) 3 58

Products for PIANP Gene

Sources for PIANP Gene

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