Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
5289
Gene name Gene Name - the full gene name approved by the HGNC.
Phosphatidylinositol 3-kinase catalytic subunit type 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PIK3C3
Synonyms (NCBI Gene) Gene synonyms aliases
VPS34, Vps34, hVps34
Chromosome Chromosome number
18
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
18q12.3
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT027827 hsa-miR-98-5p Microarray 19088304
MIRT045507 hsa-miR-149-5p CLASH 23622248
MIRT497909 hsa-miR-5583-3p PAR-CLIP 22291592
MIRT497908 hsa-miR-5579-5p PAR-CLIP 22291592
MIRT497907 hsa-miR-4635 PAR-CLIP 22291592
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000045 Process Autophagosome assembly IBA
GO:0000045 Process Autophagosome assembly IDA 33637724
GO:0000045 Process Autophagosome assembly IEA
GO:0000045 Process Autophagosome assembly IEA
GO:0000166 Function Nucleotide binding IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
602609 8974 ENSG00000078142
Protein
UniProt ID Q8NEB9
Protein name Phosphatidylinositol 3-kinase catalytic subunit type 3 (PI3-kinase type 3) (PI3K type 3) (PtdIns-3-kinase type 3) (EC 2.7.1.137) (Phosphatidylinositol 3-kinase p100 subunit) (Phosphoinositide-3-kinase class 3) (hVps34)
Protein function Catalytic subunit of the PI3K complex that mediates formation of phosphatidylinositol 3-phosphate; different complex forms are believed to play a role in multiple membrane trafficking pathways: PI3KC3-C1 is involved in initiation of autophagosom
PDB 3IHY , 3LS8 , 4OYS , 4PH4 , 4UWF , 4UWG , 4UWH , 4UWK , 4UWL , 5ANL , 5ENN , 6HOG , 6HOH , 6I3U , 6YKG , 7BL1 , 7RSJ , 7RSP , 7RSV , 8RXR , 8SOR , 9C82 , 9E4V , 9MHF , 9MHG , 9MHH
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00792 PI3K_C2 53 198 Phosphoinositide 3-kinase C2 Domain
PF00613 PI3Ka 284 530 Phosphoinositide 3-kinase family, accessory domain (PIK domain) Family
PF00454 PI3_PI4_kinase 630 702 Phosphatidylinositol 3- and 4-kinase Family
PF00454 PI3_PI4_kinase 689 833 Phosphatidylinositol 3- and 4-kinase Family
Tissue specificity TISSUE SPECIFICITY: Ubiquitously expressed, with a highest expression in skeletal muscle. {ECO:0000269|PubMed:7628435}.
Sequence
MGEAEKFHYIYSCDLDINVQLKIGSLEGKREQKSYKAVLEDPMLKFSGLYQETCSDLYVT
CQVFAEGKPLALPVRTSYKAFSTRWNWNEWLKLPVKYPDLPRNAQVALTIWDVYGPGKAV
PVGGTTVSLFGKYGMFRQGMHDLKVWPNVEADGSEPTKTPGRTSSTLSEDQMSRLAKLTK
AHRQGHMVKVDWLDRLTF
REIEMINESEKRSSNFMYLMVEFRCVKCDDKEYGIVYYEKDG
DESSPILTSFELVKVPDPQMSMENLVESKHHKLARSLRSGPSDHDLKPNAATRDQLNIIV
SYPPTKQLTYEEQDLVWKFRYYLTNQEKALTKFLKCVNWDLPQEAKQALELLGKWKPMDV
EDSLELLSSHYTNPTVRRYAVARLRQADDEDLLMYLLQLVQALKYENFDDIKNGLEPTKK
DSQSSVSENVSNSGINSAEIDSSQIITSPLPSVSSPPPASKTKEVPDGENLEQDLCTFLI
SRACKNSTLANYLYWYVIVECEDQDTQQRDPKTHEMYLNVMRRFSQALLK
GDKSVRVMRS
LLAAQQTFVDRLVHLMKAVQRESGNRKKKNERLQALLGDNEKMNLSDVELIPLPLEPQVK
IRGIIPETATLFKSALMPAQLFFKTEDGGKYPVIFKHGDDLRQDQLILQIISLMDKLLRK
ENLDLKLTPYKVLATSTKHGFMQFIQSV
PVAEVLDTEGSIQNFFRKYAPSENGPNGISAE
VMDTYVKSCAGYCVITYILGVGDRHLDNLLLTKTGKLFHIDFGYILGRDPKPLPPPMKLN
KEMVEGMGGTQSEQYQEFRKQCYTAFLHLRRYSNLILNLFSLMVDANIPDIAL
EPDKTVK
KVQDKFRLDLSDEEAVHYMQSLIDESVHALFAAVVEQIHKFAQYWRK
Sequence length 887
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Inositol phosphate metabolism
Metabolic pathways
Phosphatidylinositol signaling system
Autophagy - other
Autophagy - animal
Phagosome
Apelin signaling pathway
Alzheimer disease
Amyotrophic lateral sclerosis
Huntington disease
Spinocerebellar ataxia
Pathways of neurodegeneration - multiple diseases
Shigellosis
Salmonella infection
Tuberculosis
Kaposi sarcoma-associated herpesvirus infection
  PI3K Cascade
Macroautophagy
Synthesis of PIPs at the Golgi membrane
Synthesis of PIPs at the early endosome membrane
Synthesis of PIPs at the late endosome membrane
Toll Like Receptor 9 (TLR9) Cascade
RHO GTPases Activate NADPH Oxidases
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Asthma Nonatopic asthma N/A N/A GWAS
Metabolic Syndrome Metabolic syndrome N/A N/A GWAS
Nasopharyngeal Carcinoma Nasopharyngeal carcinoma MDM2 and PIK3C3 are important for C666-2 cell growth 31073033 CBGDA
Periodontal Diseases Periodontal disease N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Alzheimer Disease Associate 20559548
Autoimmune Diseases Associate 20671926
Breast Neoplasms Associate 24818135, 34870550
Colorectal Neoplasms Associate 31092562, 33846805
Esophageal Squamous Cell Carcinoma Associate 18649358, 32207410, 35333349
Hyperinsulinism Associate 25042561
Hypoxia Associate 32833964, 35626732
Leukemia Associate 30381299
Lupus Erythematosus Systemic Associate 20671926
Lymphoma Non Hodgkin Associate 38203743