PLCG2 (GeneID: 5336) | Homo sapiens
Description: phospholipase C gamma 2 [Source:HGNC Symbol;Acc:HGNC:9066]
Synonyms: PLC-IV, APLAID, PLC-gamma-2, FCAS3
Other ID(s): HGNC:9066, ENSG00000197943
Protein Accession Numbers: ENST00000359376, NP_002652, ENST00000563193, ENST00000565054, ENST00000359376.3, ENST00000563375
Statistics: gnomAD(41)
gnomAD Variants By Annotation

∙ Please click the name of species for the protein accession number used in the alignment.
∙ A p letter used as a pointer to positions of post translational modifications in human.
∙ Protein domains illustrated above belong to Homo sapiens (Human).
∙ ClinVar stacked bar chart represents whole protein isoforms of the gene. Please, check the other protein isoforms of the gene below.
∙ If more than one transcripts below are active (with blue background color), it means all the active transcripts have the same sequence.
ENST00000359376 ENST00000563193 ENST00000563375 ENST00000565054 NP_002652


import_contactsClinVar Data
Variation ID filter_list Allele ID filter_list RS Number filter_list Variant Type filter_list Record filter_list Alteration filter_list Clinicial Sig. filter_list Last Update filter_list Phenotypes filter_list Cytogenetic filter_list Review Status filter_list RCV Acc.N. filter_list

healinggnomAD
Variant ID filter_list Transcript ID filter_list Alteration filter_list Annotation filter_list Allele C. filter_list Allele N. filter_list Allele F. filter_list rsNumber filter_list Flagsfilter_list Filter filter_list

placePost-translational Modifications (PTMs)
Gene Name filter_list ACC ID filter_list PTM Type filter_list Position filter_list Mod-rsd filter_list Site +/-7 Aa filter_list Mw_kd filter_list Site grpID filter_list

blur_onCatalogue of Somatic Mutations in Cancer (COSMIC)
Gene Name filter_list Transcript ID filter_list Sample name filter_list Primary Site filter_list Primary Histology filter_list Mutation ID filter_list Mutation CDS filter_list Mutation Aa filter_list Mutation Desc. filter_list FATHMM Prediction filter_list FATHMM Score filter_list Mutation Somatic Status filter_list PUBMED PMID filter_list Tumor Origin filter_list Position filter_list

chrome_reader_modedbSNP
Gene ID filter_list Transcript ID filter_list Consequence filter_list Position filter_list HGVSp filter_list Impact filter_list

format_align_centerProtein Domains (PFAM)
Pfam Domain filter_list Domain Name filter_list Description filter_list Positions filter_list Clan filter_list Clan Name filter_list Organism filter_list
NO RESULT FOUND
PF00017 SH2 SH2 domain 532-617 CL0541 SH2-like Mus musculus
PF00017 SH2 SH2 domain 646-720 CL0541 SH2-like Mus musculus
PF00018 SH3_1 SH3 domain 775-821 CL0010 SH3 Mus musculus
PF00168 C2 C2 domain 1061-1167 CL0154 C2 Mus musculus
PF00387 PI-PLC-Y Phosphatidylinositol-specific phospholipase C, Y domain 930-1042 CL0384 PLC Mus musculus
PF00388 PI-PLC-X Phosphatidylinositol-specific phospholipase C, X domain 314-457 CL0384 PLC Mus musculus

view_listList of the diseases from DisGeNET
Disease Name filter_list Disease Category filter_list DSI* filter_list DPI** filter_list
Alzheimer's Disease Nervous System Diseases ; Mental Disorders ; 0.636 0.621
Presenile dementia Nervous System Diseases ; Mental Disorders ; 0.636 0.621
Inflammatory Bowel Diseases Digestive System Diseases ; 0.636 0.621
Chronic Lymphocytic Leukemia Neoplasms ; Hemic and Lymphatic Diseases ; Immune System Diseases ; 0.636 0.621
Muckle-Wells Syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Skin and Connective Tissue Diseases ; 0.636 0.621
Familial Alzheimer Disease (FAD) Nervous System Diseases ; Mental Disorders ; 0.636 0.621
Familial cold urticaria Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Skin and Connective Tissue Diseases ; 0.636 0.621
Chronic Infantile Neurological, Cutaneous, and Articular Syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Skin and Connective Tissue Diseases ; 0.636 0.621
Alzheimer Disease, Late Onset Nervous System Diseases ; Mental Disorders ; 0.636 0.621
Acute Confusional Senile Dementia Nervous System Diseases ; Mental Disorders ; 0.636 0.621
Alzheimer's Disease, Focal Onset Nervous System Diseases ; Mental Disorders ; 0.636 0.621
Alzheimer Disease, Early Onset Nervous System Diseases ; Mental Disorders ; 0.636 0.621
Cryopyrin-Associated Periodic Syndromes Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Skin and Connective Tissue Diseases ; 0.636 0.621
FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3 N/A 0.636 0.621
AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION, PLCG2-ASSOCIATED N/A 0.636 0.621
NO RESULT FOUND
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