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9 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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PIANP
PILR alpha associated neural protein
Chromosome 12 · 12p13.31
NCBI Gene: 196500Ensembl: ENSG00000139200.15HGNC: HGNC:25338UniProt: Q8IYJ0
13PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingmembranebasolateral plasma membraneplasma membraneautismcolorectal cancerneoplasmatypical teratoid rhabdoid tumor
✦AI Summary

PIANP (PILR alpha associated neural protein) is a type-I transmembrane protein primarily localized to the basolateral plasma membrane of epithelial and neural cells 1. As a ligand for the immune inhibitory receptor PILRA, PIANP functions in immune regulation within neural tissues 2. Mechanistically, PIANP undergoes complex post-translational processing involving O-glycosylation, sialidation, and sequential proteolytic cleavage 3. Furin-like proprotein convertases process PIANP early during maturation, followed by ectodomain shedding via matrix metalloproteinases and ADAM10/17, generating C-terminal fragments further processed by γ-secretase 4. This processing is requisite for PILRA receptor-ligand interactions. Additionally, PIANP associates with APP and GABA-B receptors via sushi-domain binding, influencing presynaptic trafficking and reducing APP proteolysis to amyloid-beta 2. Functionally, PIANP enhances epithelial barrier integrity by increasing transepithelial electrical resistance and stabilizing intercellular junctions through attenuation of E-Cadherin γ-secretase-mediated cleavage 1. PIANP also participates in host-microbiome interactions and immune regulation, with predicted involvement in microbiota modulation 5. Clinically, PIANP variants are associated with intellectual disability and disorders of sex development 67, suggesting its broader relevance in neurological development and endocrine function.

Sources cited
1
PIANP is a type-I transmembrane protein sorted to the basolateral membrane that enhances barrier function and E-Cadherin processing through γ-secretase regulation
PMID: 27216462
2
PIANP undergoes O-glycosylation, sialidation, and Furin-like proprotein convertase-dependent cleavage that precedes plasma membrane localization and PILRA binding
PMID: 23558288
3
PIANP undergoes constitutive proteolytic processing by proprotein convertases, MMPs, ADAM10/17, and γ-secretase to generate intracellular domain fragments
PMID: 27349870
4
PIANP binds to GABA-B receptor sushi-domains with nanomolar affinity and associates with APP to influence presynaptic trafficking and reduce Aβ formation
PMID: 30902970
5
PIANP is identified as a candidate gene regulating gut microbial communities and host-microbiota interactions in pigs
PMID: 33612109
6
PIANP variants are identified in patients with intellectual disability through exome sequencing as potential pathogenic candidates
PMID: 27431290
7
PIANP variants are associated with disorders of sex development in a large cohort of patients with Mendelian phenotypes
PMID: 32949114
8
PIANP is identified as an auxiliary protein forming macromolecular complexes with GABA-B receptors that modulate their trafficking and function
PMID: 40756990
Disease Associationsⓘ20
autismOpen Targets
0.02Suggestive
colorectal cancerOpen Targets
0.02Suggestive
neoplasmOpen Targets
0.02Suggestive
atypical teratoid rhabdoid tumorOpen Targets
0.01Suggestive
AnxietyOpen Targets
0.01Suggestive
pituitary cancerOpen Targets
0.01Suggestive
bacterial urinary tract infectionOpen Targets
0.01Suggestive
Global developmental delayOpen Targets
0.00Suggestive
cancerOpen Targets
0.00Suggestive
inflammationOpen Targets
0.00Suggestive
acute myocardial infarctionOpen Targets
0.00Suggestive
melanomaOpen Targets
0.00Suggestive
urinary tract infectionOpen Targets
0.00Suggestive
rectum cancerOpen Targets
0.00Suggestive
ulcerative colitisOpen Targets
0.00Suggestive
autism spectrum disorderOpen Targets
0.00Suggestive
benign neoplasmOpen Targets
0.00Suggestive
colorectal carcinomaOpen Targets
0.00Suggestive
preeclampsiaOpen Targets
0.00Suggestive
COVID-19–associated multisystem inflammatory syndrome in adultsOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
CD8B2Shared pathway100%PILRAProtein interaction85%NPDC1Protein interaction85%GPR108Shared pathway50%ENTPD7Shared pathway33%HCSTShared pathway25%
Tissue Expression6 tissues
Brain
100%
Ovary
8%
Bone Marrow
3%
Heart
3%
Lung
2%
Liver
1%
Gene Interaction Network
Click a node to explore
PIANPCD8B2PILRANPDC1GPR108ENTPD7HCST
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q8IYJ0
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.02LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.66 [0.43–1.02]
RankingsWhere PIANP stands among ~20K protein-coding genes
  • #16,260of 20,598
    Most Researched13
  • #10,106of 17,882
    Most Constrained (LOEUF)1.02
Genes detectedPIANP
Sources retrieved9 papers
Response time—
📄 Sources
9▼
1
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
Biochem Biophys Res Commun · 2016
1.00
2
A gene co-association network regulating gut microbial communities in a Duroc pig population.
PMID: 33612109
Microbiome · 2021
0.89
3
Proteolytic cleavage of LEDA-1/PIANP by furin-like proprotein convertases precedes its plasma membrane localization.
PMID: 23558288
Biochem Biophys Res Commun · 2013
0.78
4
Posttranslational proteolytic processing of Leda-1/Pianp involves cleavage by MMPs, ADAM10/17 and gamma-secretase.
PMID: 27349870
Biochem Biophys Res Commun · 2016
0.67
5
Complex formation of APP with GABA
PMID: 30902970
Nat Commun · 2019
0.56