ITPR3 (GeneID: 3710) | Homo sapiens
Description: inositol 1, 4, 5-trisphosphate receptor type 3 [Source:HGNC Symbol;Acc:HGNC:6182]
Synonyms: IP3R, IP3R3
Other ID(s): HGNC:6182, ENSG00000096433
Protein Accession Numbers: ENST00000605930, ENST00000374316.5, NP_002215, ENST00000374316
Statistics: ClinVar(63) gnomAD(4496) COSMIC(1551) PTM(81)
ClinVar Pathogenicity of Variations help

∙ 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.
ENST00000374316 You are here now! ENST00000605930 You are here now! NP_002215 You are here now!


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
PF00520 Ion_trans Ion transport protein 2206-2528 CL0030 Ion_channel Homo sapiens
PF01365 RYDR_ITPR RIH domain 473-670 Homo sapiens
PF01365 RYDR_ITPR RIH domain 1175-1334 Homo sapiens
PF02815 MIR MIR domain 233-433 CL0066 Trefoil Homo sapiens
PF08709 Ins145_P3_rec Inositol 1,4,5-trisphosphate/ryanodine receptor 3-230 CL0066 Trefoil Homo sapiens
PF08454 RIH_assoc RyR and IP3R Homology associated 1864-1974 Homo sapiens

view_listList of the diseases from DisGeNET
Disease Name filter_list Disease Category filter_list DSI* filter_list DPI** filter_list
Acrodermatitis Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Skin and Connective Tissue Diseases ; 0.636 0.586
Diabetes Mellitus, Insulin-Dependent Nutritional and Metabolic Diseases ; Endocrine System Diseases ; Immune System Diseases ; 0.636 0.586
Diabetes, Autoimmune Nutritional and Metabolic Diseases ; Endocrine System Diseases ; Immune System Diseases ; 0.636 0.586
Gianotti-Crosti Syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Skin and Connective Tissue Diseases ; 0.636 0.586
Brittle diabetes Nutritional and Metabolic Diseases ; Endocrine System Diseases ; Immune System Diseases ; 0.636 0.586
Diabetes Mellitus, Ketosis-Prone Nutritional and Metabolic Diseases ; Endocrine System Diseases ; Immune System Diseases ; 0.636 0.586
NO RESULT FOUND
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