CR2 (GeneID: 1380) | Homo sapiens
Description: complement C3d receptor 2 [Source:HGNC Symbol;Acc:HGNC:2336]
Synonyms: CVID7, C3DR, CR, SLEB9, CD21
Other ID(s): HGNC:2336, ENSG00000117322
Protein Accession Numbers: ENST00000458541, ENST00000367057.3, NP_001868, ENST00000367059, ENST00000367057, NP_001006659, ENST00000367058
Statistics: ClinVar(276) gnomAD(908) COSMIC(492) PTM(12)
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.
ENST00000367057 You are here now! ENST00000367058 ENST00000367059 ENST00000458541 NP_001006659 You are here now! NP_001868


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
PF00084 Sushi Sushi repeat (SCR repeat) 351-406 CL0001 EGF Homo sapiens
PF00084 Sushi Sushi repeat (SCR repeat) 851-907 CL0001 EGF Homo sapiens
PF00084 Sushi Sushi repeat (SCR repeat) 410-466 CL0001 EGF Homo sapiens
PF00084 Sushi Sushi repeat (SCR repeat) 788-843 CL0001 EGF Homo sapiens
PF00084 Sushi Sushi repeat (SCR repeat) 602-657 CL0001 EGF Homo sapiens
PF00084 Sushi Sushi repeat (SCR repeat) 719-779 CL0001 EGF Homo sapiens
PF00084 Sushi Sushi repeat (SCR repeat) 154-210 CL0001 EGF Homo sapiens
PF00084 Sushi Sushi repeat (SCR repeat) 912-968 CL0001 EGF Homo sapiens
PF00084 Sushi Sushi repeat (SCR repeat) 23-82 CL0001 EGF Homo sapiens
PF00084 Sushi Sushi repeat (SCR repeat) 91-146 CL0001 EGF Homo sapiens
PF00084 Sushi Sushi repeat (SCR repeat) 527-593 CL0001 EGF Homo sapiens
PF00084 Sushi Sushi repeat (SCR repeat) 215-271 CL0001 EGF Homo sapiens
PF00084 Sushi Sushi repeat (SCR repeat) 276-342 CL0001 EGF Homo sapiens

view_listList of the diseases from DisGeNET
Disease Name filter_list Disease Category filter_list DSI* filter_list DPI** filter_list
Common Variable Immunodeficiency Immune System Diseases ; 0.569 0.621
Lupus Erythematosus, Systemic Skin and Connective Tissue Diseases ; Immune System Diseases ; 0.569 0.621
Libman-Sacks Disease Skin and Connective Tissue Diseases ; Immune System Diseases ; 0.569 0.621
Acquired Hypogammaglobulinemia Immune System Diseases ; 0.569 0.621
Immunoglobulin Deficiency, Late-Onset Immune System Diseases ; 0.569 0.621
NO RESULT FOUND
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