Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
23760
Gene name Gene Name - the full gene name approved by the HGNC.
Phosphatidylinositol transfer protein beta
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PITPNB
Synonyms (NCBI Gene) Gene synonyms aliases
PI-TP-beta, PtdInsTP, VIB1B
Chromosome Chromosome number
22
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
22q12.1
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a cytoplasmic protein that catalyzes the transfer of phosphatidylinositol and phosphatidylcholine between membranes. This transfer activity is required for COPI complex-mediated retrograde transport from the Golgi apparatus to the endopl
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT016434 hsa-miR-193b-3p Microarray 20304954
MIRT021667 hsa-miR-140-3p Sequencing 20371350
MIRT024573 hsa-miR-215-5p Microarray 19074876
MIRT025104 hsa-miR-181a-5p Sequencing 20371350
MIRT026369 hsa-miR-192-5p Microarray 19074876
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane ISS
GO:0000139 Component Golgi membrane TAS
GO:0005515 Function Protein binding IPI 32814053
GO:0005737 Component Cytoplasm IBA 21873635
GO:0005789 Component Endoplasmic reticulum membrane ISS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
606876 9002 ENSG00000180957
Protein
UniProt ID P48739
Protein name Phosphatidylinositol transfer protein beta isoform (PI-TP-beta) (PtdIns transfer protein beta) (PtdInsTP beta)
Protein function Catalyzes the transfer of phosphatidylinositol and phosphatidylcholine between membranes (PubMed:10531358, PubMed:18636990, PubMed:20332109). Also catalyzes the transfer of sphingomyelin (By similarity). Required for COPI-mediated retrograde tra
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02121 IP_trans 2 252 Phosphatidylinositol transfer protein Family
Tissue specificity TISSUE SPECIFICITY: Widely expressed in various tissues including brain.
Sequence
Sequence length 271
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    PI and PC transport between ER and Golgi membranes
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Breast carcinoma Breast Carcinoma rs80359671, rs11540652, rs28934575, rs28897672, rs137886232, rs193922376, rs80357783, rs80359306, rs80359405, rs80359507, rs80359598, rs80358429, rs397507683, rs397515636, rs80359451
View all (71 more)
29059683
Unknown
Disease term Disease name Evidence References Source
Breast Cancer Breast Cancer Importantly, breast cancer patients bearing PRC2 LOF mutations displayed significantly worse prognosis compared with PRC2 wild-type patients GWAS, CBGDA
Oligodendroglioma Oligodendroglioma GWAS
Associations from Text Mining
Disease Name Relationship Type References
Alzheimer Disease Associate 36776048
Moyamoya Disease Associate 40722175