Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
5331
Gene name Gene Name - the full gene name approved by the HGNC.
Phospholipase C beta 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PLCB3
Synonyms (NCBI Gene) Gene synonyms aliases
SMDCD
Chromosome Chromosome number
11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
11q13.1
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a member of the phosphoinositide phospholipase C beta enzyme family that catalyze the production of the secondary messengers diacylglycerol and inositol 1,4,5-triphosphate from phosphatidylinositol in G-protein-linked receptor-mediated s
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT023858 hsa-miR-1-3p Proteomics 18668040
MIRT032418 hsa-let-7b-5p Proteomics 18668040
MIRT048057 hsa-miR-197-3p CLASH 23622248
MIRT442898 hsa-miR-1245b-5p PAR-CLIP 22100165
MIRT442897 hsa-miR-3142 PAR-CLIP 22100165
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0003073 Process Regulation of systemic arterial blood pressure IDA 18468998
GO:0004435 Function Phosphatidylinositol-4,5-bisphosphate phospholipase C activity IBA
GO:0004435 Function Phosphatidylinositol-4,5-bisphosphate phospholipase C activity IDA 9188725, 20966218, 37991948
GO:0004435 Function Phosphatidylinositol-4,5-bisphosphate phospholipase C activity IEA
GO:0004629 Function Phospholipase C activity TAS 7607669
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
600230 9056 ENSG00000149782
Protein
UniProt ID Q01970
Protein name 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-3 (EC 3.1.4.11) (Phosphoinositide phospholipase C-beta-3) (Phospholipase C-beta-3) (PLC-beta-3)
Protein function Catalyzes the production of the second messenger molecules diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3) (PubMed:20966218, PubMed:29122926, PubMed:37991948, PubMed:9188725). Key transducer of G protein-coupled receptor signaling: a
PDB 4GNK , 4QJ3 , 4QJ4 , 4QJ5 , 7SQ2 , 8EMV , 8EMW , 8EMX , 8UQN , 8UQO
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF17787 PH_14 17 146 PH domain Domain
PF09279 EF-hand_like 216 310 Phosphoinositide-specific phospholipase C, efhand-like Domain
PF00388 PI-PLC-X 319 469 Phosphatidylinositol-specific phospholipase C, X domain Family
PF00387 PI-PLC-Y 590 704 Phosphatidylinositol-specific phospholipase C, Y domain Family
PF00168 C2 726 827 C2 domain Domain
PF08703 PLC-beta_C 1029 1202 PLC-beta C terminal Domain
Sequence
MAGAQPGVHALQLEPPTVVETLRRGSKFIKWDEETSSRNLVTLRVDPNGFFLYWTGPNME
VDTLDISSIRDTRTGRYARLPKDPKIREVLGFGGPDARLEEKLMTVVSGPDPVNTVFLNF
MAVQDDTAKVWSEELFKLAMNILAQN
ASRNTFLRKAYTKLKLQVNQDGRIPVKNILKMFS
ADKKRVETALESCGLKFNRSESIRPDEFSLEIFERFLNKLCLRPDIDKILLEIGAKGKPY
LTLEQLMDFINQKQRDPRLNEVLYPPLRPSQARLLIEKYEPNQQFLERDQMSMEGFSRYL
GGEENGILPL
EALDLSTDMTQPLSAYFINSSHNTYLTAGQLAGTSSVEMYRQALLWGCRC
VELDVWKGRPPEEEPFITHGFTMTTEVPLRDVLEAIAETAFKTSPYPVILSFENHVDSAK
QQAKMAEYCRSIFGDALLIEPLDKYPLAPGVPLPSPQDLMGRILVKNKK
RHRPSAGGPDS
AGRKRPLEQSNSALSESSAATEPSSPQLGSPSSDSCPGLSNGEEVGLEKPSLEPQKSLGD
EGLNRGPYVLGPADREDEEEDEEEEEQTDPKKPTTDEGTASSEVNATEEMSTLVNYIEPV
KFKSFEAARKRNKCFEMSSFVETKAMEQLTKSPMEFVEYNKQQLSRIYPKGTRVDSSNYM
PQLFWNVGCQLVALNFQTLDVAMQLNAGVFEYNGRSGYLLKPEF
MRRPDKSFDPFTEVIV
DGIVANALRVKVISGQFLSDRKVGIYVEVDMFGLPVDTRRKYRTRTSQGNSFNPVWDEEP
FDFPKVVLPTLASLRIAAFEEGGKFVGHRILPVSAIRSGYHYVCLRN
EANQPLCLPALLI
YTEASDYIPDDHQDYAEALINPIKHVSLMDQRARQLAALIGESEAQAGQETCQDTQSQQL
GSQPSSNPTPSPLDASPRRPPGPTTSPASTSLSSPGQRDDLIASILSEVAPTPLDELRGH
KALVKLRSRQERDLRELRKKHQRKAVTLTRRLLDGLAQAQAEGRCRLRPGALGGAADVED
TKEGEDEAKRYQEFQNRQVQSLLELREAQVDAEAQRRLEHLRQALQRLREVVLDANTTQF
KRLKEMNEREKKELQKILDRKRHNSISEAKMRDKHKKEAELTEINRRHITESVNSIRRLE
EAQKQRHDRLVAGQQQVLQQLAEEEPKLLAQLAQECQEQRARLPQEIRRSLLGEMPEGLG
DG
PLVACASNGHAPGSSGHLSGADSESQEENTQL
Sequence length 1234
Interactions View interactions
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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
Diabetes Type 2 diabetes, Type 2 diabetes (adjusted for BMI) N/A N/A GWAS
Hypertension Hypertension N/A N/A GWAS
Spondylometaphyseal dysplasia spondylometaphyseal dysplasia N/A N/A GenCC
Spondylometaphyseal Dysplasia spondylometaphyseal dysplasia with corneal dystrophy N/A N/A GenCC
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Associate 31080817
Carcinoma Hepatocellular Associate 30896816
Carcinoma Non Small Cell Lung Associate 31080817
Corneal Dystrophies Hereditary Associate 29122926
Cystic Fibrosis Associate 21411730
Developmental Disabilities Associate 29122926
Leukemia Lymphoma Adult T Cell Associate 37832654
Lung Diseases Associate 21411730
Neoplasms Associate 10638960, 30896816
Polycystic Ovary Syndrome Associate 26308735