Gene Gene information from NCBI Gene database.
Entrez ID 257068
Gene name Phosphatidylinositol specific phospholipase C X domain containing 2
Gene symbol PLCXD2
Synonyms (NCBI Gene)
PLCXD-2
Chromosome 3
Chromosome location 3q13.2
miRNA miRNA information provided by mirtarbase database.
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miRTarBase ID miRNA Experiments Reference
MIRT023634 hsa-miR-1-3p Proteomics 18668040
MIRT031617 hsa-miR-16-5p Proteomics 18668040
MIRT049651 hsa-miR-92a-3p CLASH 23622248
MIRT643138 hsa-miR-4310 HITS-CLIP 23824327
MIRT643137 hsa-miR-7157-5p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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GO ID Ontology Definition Evidence Reference
GO:0005634 Component Nucleus IEA
GO:0006629 Process Lipid metabolic process IEA
GO:0007165 Process Signal transduction IEA
GO:0008081 Function Phosphoric diester hydrolase activity IBA
GO:0008081 Function Phosphoric diester hydrolase activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
617015 26462 ENSG00000240891
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q0VAA5
Protein name PI-PLC X domain-containing protein 2 (Phospholipase C X-domain containing protein 2) (PLCXD-2)
Protein function Catalyzes the hydrolysis of inositol from phosphatidylinositol (1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol), PI) (PubMed:22732399). Could also hydrolyze various multi-phosphorylated derivatives of PI, such as phosphatidylinositol-4,5 bisph
Family and domains
Tissue specificity TISSUE SPECIFICITY: Widely expressed. {ECO:0000269|PubMed:22732399}.
Sequence
MLAVRKARRKLRMGTICSPNPSGTKTSSEVCNADWMASLPPHLHNLPLSNLAIPGSHDSF
SYWVDEKSPVGPDQTQAIKRLARISLVKKLMKKWSVTQNLTFREQLEAGIRYFDLRVSSK
PGDADQEIYFIHGLFGIKVWDGLMEIDSFLTQHPQEIIFLDFNHFYAMDETHHKCLVLRI
QEAFGNKLCPACSVESLTLRTLWEKNCQVLIFYHCPFYKQYPFLWPGKKIPAPWANTTSV
RKLILFLETTLSERASRGSFHVSQAILTPRVKTIARGLVGGLKNTLVHSNRWNSHGPSLL
SQERS
Sequence length 305
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
8
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ATRIAL FIBRILLATION GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATRIAL FLUTTER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CROHN'S DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
HEMORRHOID GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Atrial Fibrillation Atrial Fibrillation GWASCAT_DG 30061737
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Esophageal Squamous Cell Carcinoma Esophageal squamous cell carcinoma Pubtator 31053115 Associate
★☆☆☆☆
Found in Text Mining only
Squamous cell carcinoma of esophagus Esophagus Neoplasm BEFREE 31053115
★☆☆☆☆
Found in Text Mining only