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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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PITPNB
phosphatidylinositol transfer protein beta
Chromosome 22 · 22q12.1
NCBI Gene: 23760Ensembl: ENSG00000180957.19HGNC: HGNC:9002UniProt: P48739
52PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transporter
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingphosphatidylcholine intramembrane carrier activityphosphatidylinositol transfer activityphosphatidylcholine bindingprostate carcinomabreast carcinomaclear cell renal carcinomaneurodegenerative disease
✦AI Summary

PITPNB (phosphatidylinositol transfer protein beta) is a lipid transfer protein that catalyzes the bidirectional transfer of phosphatidylinositol and phosphatidylcholine between cellular membranes 1. It plays a critical role in COPI-mediated retrograde transport from the Golgi apparatus to the endoplasmic reticulum, with both phosphatidylinositol and phosphatidylcholine transfer activities essential for this function 2. PITPNB regulates phosphatidylinositol-4-phosphate (PI4P) metabolism at the Golgi, and its dysregulation activates mammalian Golgi stress responses that can trigger transcriptional changes and cell death 3. Beyond its canonical transport function, PITPNB has emerged as a disease-associated gene in multiple contexts: it was identified as a hub gene in moyamoya disease pathogenesis 4, appears in brain proteomic signatures associated with Alzheimer's disease progression 5, and is a shared genetic risk factor between breast cancer and intracranial meningioma 6. PITPNB deletion has been associated with craniofacial abnormalities including cleft palate 7. These findings suggest PITPNB functions extend beyond vesicular transport to encompassing roles in stress signaling, vascular disease, neurodegeneration, and cancer pathogenesis.

Sources cited
1
PITPNB catalyzes transfer of phosphatidylinositol and phosphatidylcholine between membranes
PMID: 10531358
2
PITPNB is required for COPI-mediated retrograde transport from Golgi to ER; PI and PC transfer activity essential for this function
PMID: 20332109
3
PITPNB loss represses Golgi stress-induced transcription and cell death via PI4P pathway dysregulation
PMID: 39675715
4
PITPNB identified as hub gene in moyamoya disease pathogenesis related to angiogenesis and immune responses
PMID: 40722175
5
PITPNB is a predictive brain protein in Alzheimer's disease classification between asymptomatic AD and control subjects
PMID: 36776048
6
PITPNB is a shared genetic risk gene between breast cancer and intracranial meningioma
PMID: 39905226
7
PITPNB deletion is associated with craniofacial abnormalities and cleft palate in humans
PMID: 22436304
Disease Associationsⓘ20
prostate carcinomaOpen Targets
0.37Weak
breast carcinomaOpen Targets
0.37Weak
clear cell renal carcinomaOpen Targets
0.36Weak
neurodegenerative diseaseOpen Targets
0.29Weak
polycystic ovary syndromeOpen Targets
0.28Weak
uterine fibroidOpen Targets
0.28Weak
nontoxic goiterOpen Targets
0.25Weak
renal carcinomaOpen Targets
0.23Weak
glaucomaOpen Targets
0.19Weak
kidney cancerOpen Targets
0.18Weak
thyroid cancerOpen Targets
0.18Weak
multinodular goiterOpen Targets
0.17Weak
Uterine leiomyomaOpen Targets
0.17Weak
aortic diseaseOpen Targets
0.14Weak
allergic rhinitisOpen Targets
0.14Weak
goutOpen Targets
0.14Weak
ovarian dysfunctionOpen Targets
0.14Weak
placenta praeviaOpen Targets
0.12Weak
open-angle glaucomaOpen Targets
0.12Weak
Abruptio PlacentaeOpen Targets
0.11Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
PITPNM3Protein interaction93%PITPNAShared pathway43%PITPNM1Shared pathway33%ATP9BShared pathway29%PCTPShared pathway25%PITPNM2Shared pathway25%
Tissue Expression6 tissues
Liver
100%
Brain
88%
Heart
86%
Lung
65%
Ovary
64%
Bone Marrow
49%
Gene Interaction Network
Click a node to explore
PITPNBPITPNM3PITPNAPITPNM1ATP9BPCTPPITPNM2
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt P48739
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.81LoF Tolerant
pLIⓘ
0.22Tolerant
Observed/Expected LoF0.60 [0.19–1.81]
RankingsWhere PITPNB stands among ~20K protein-coding genes
  • #8,599of 20,598
    Most Researched52
  • #16,603of 17,882
    Most Constrained (LOEUF)1.81
Genes detectedPITPNB
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Dysregulation of PI4P in the trans Golgi regions activates the mammalian Golgi stress response.
PMID: 39675715
J Biol Chem · 2025
1.00
2
Angiogenesis-related genes and immune microenvironment in moyamoya disease: a transcriptomic and functional analysis.
PMID: 40722175
Orphanet J Rare Dis · 2025
0.90
3
Machine Learning Selection of Most Predictive Brain Proteins Suggests Role of Sugar Metabolism in Alzheimer's Disease.
PMID: 36776048
J Alzheimers Dis · 2023
0.80
4
Exploring the genetic correlation and causal relationships between breast cancer and meningioma using bidirectional Mendelian randomization.
PMID: 39905226
Sci Rep · 2025
0.70
5
Microdeletion del(22)(q12.2) encompassing the facial development-associated gene, MN1 (meningioma 1) in a child with Pierre-Robin sequence (including cleft palate) and neurofibromatosis 2 (NF2): a case report and review of the literature.
PMID: 22436304
BMC Med Genet · 2012
0.60