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This gene encodes a membrane protein, which functions as a receptor for Epstein-Barr virus (EBV) binding on B and T lymphocytes. Genetic variations in this gene are associated with susceptibility to systemic lupus erythematosus type 9 (SLEB9). Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009] See more...
Aliases for CR2 Gene
Aliases for CR2 Gene
External Ids for CR2 Gene
- HGNC: 2336
- Entrez Gene: 1380
- Ensembl: ENSG00000117322
- OMIM: 120650
- UniProtKB: P20023
Previous GeneCards Identifiers for CR2 Gene
- GC01P206287
- GC01P203337
- GC01P204270
- GC01P204578
- GC01P204016
- GC01P205694
- GC01P207627
- GC01P178320
Summaries for CR2 Gene
-
This gene encodes a membrane protein, which functions as a receptor for Epstein-Barr virus (EBV) binding on B and T lymphocytes. Genetic variations in this gene are associated with susceptibility to systemic lupus erythematosus type 9 (SLEB9). Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]
GeneCards Summary for CR2 Gene
CR2 (Complement C3d Receptor 2) is a Protein Coding gene. Diseases associated with CR2 include Immunodeficiency, Common Variable, 7 and Systemic Lupus Erythematosus 9. Among its related pathways are Immune response Lectin induced complement pathway and Hematopoietic cell lineage. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and transmembrane signaling receptor activity. An important paralog of this gene is CSMD3.
UniProtKB/Swiss-Prot Summary for CR2 Gene
-
Receptor for complement C3, for the Epstein-Barr virus on human B-cells and T-cells and for HNRNPU (PubMed:7753047). Participates in B lymphocytes activation (PubMed:7753047).
-
(Microbial infection) Acts as a receptor for Epstein-Barr virus.
Additional gene information for CR2 Gene
- HGNC(2336)
- Entrez Gene(1380)
- Ensembl(ENSG00000117322)
- OMIM(120650)
- UniProtKB(P20023)
- Open Targets Platform(ENSG00000117322)
- Monarch Initiative
- Search for CR2 at DataMed
- Search for CR2 at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CR2 Gene
Genomics for CR2 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for CR2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around CR2 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CR2
- Top Transcription factor binding sites by QIAGEN in the CR2 gene promoter:
-
- AML1a
- c-Jun
- FOXD1
- GR
- GR-alpha
- GR-beta
- Pax-6
Genomic Locations for CR2 Gene
Genomic Locations for CR2 Gene
- chr1:207,454,230-207,489,895
- (GRCh38/hg38)
- Size:
- 35,666 bases
- Orientation:
- Plus strand
- chr1:207,627,575-207,663,240
- (GRCh37/hg19)
- Size:
- 35,666 bases
- Orientation:
- Plus strand
Genomic View for CR2 Gene
Genes around CR2 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 1q32.2 by HGNC
- 1q32.2 by Entrez Gene
- 1q32.2 by Ensembl
CR2 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for CR2 Gene
Proteins for CR2 Gene
-
Protein details for CR2 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P20023-CR2_HUMAN
- Recommended name:
- Complement receptor type 2
- Protein Accession:
- P20023
- C9JHD2
- Q13866
- Q14212
- Q53EL2
- Q5BKT9
- Q5SR46
- Q5SR48
Protein attributes for CR2 Gene
- Size:
- 1033 amino acids
- Molecular mass:
- 112916 Da
- Quaternary structure:
-
- Interacts (via Sushi domain 1 and 2) with C3 (PubMed:11387479, PubMed:21527715). Interacts with CD19 (PubMed:1702139). Part of a complex composed of CD19, CR2/CD21, CD81 and IFITM1/CD225 in the membrane of mature B-cells (PubMed:1383329).
- (Microbial infection) Interacts with Epstein-Barr virus gp350 protein.
- SequenceCaution:
-
- Sequence=AAA35784.1; Type=Frameshift; Evidence={ECO:0000305};
Three dimensional structures from OCA and Proteopedia for CR2 Gene
Protein Expression for CR2 Gene
Post-translational modifications for CR2 Gene
Other Protein References for CR2 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- NSJ Bioreagents CD21 Antibody (Protein Microarray-Validated Monoclonal)
-
BioLegend
- CD21 Antibody (354902)
- CD21 Antibody (354909)
- PerCP/Cyanine5.5 CD21 Antibody (354908)
- PerCP/Cyanine5.5 CD21 Antibody (354907)
- CD21 Antibody (354904)
- CD21 Antibody (354912)
- CD21 Antibody (354906)
- CD21 Antibody (354911)
- CD21 Antibody (354910)
- CD21 Antibody (354905)
- CD21 Antibody (354903)
- CD21 Antibody (354913)
- CD21 Antibody (354918)
- APC/Fire(TM) 750 CD21 Antibody (354919)
- CD21 Antibody (354921)
- APC/Fire(TM) 750 CD21 Antibody (354920)
- CD21 Antibody (354922)
- TotalSeq(TM)-A0181 CD21 Antibody
- CD21 Antibody (354917)
-
Custom Antibody ServicesOriGene Antibodies for CR2
- AM03064FC-N
- AM03064PU-N
- AM03064RP-N
- AM05578PU-N
- AM08109BT-N
- AM08109FC-N
- AM08109PU-N
- AM08109RP-N
- AM10060SU-N
- AM31230AF-N
- AM31230FC-N
- AM31230PU-N
- AM31230RP-N
- AM32139PU-N
- AM32268SU-N
- AM39015FC-N
- AM39015PU-N
- AM39015RP-N
- AP17240PU-N
- DDX0120P-100
- SM1785F
- SM1785FT
- SM1785P
- SM1785R
- SM1785RT
- TA327627
- TA327628
- TA350811
- TA353108L
- TA353109L
- Novus Biologicals Antibodies for CR2
- Invitrogen Antibodies for CR2 (AFLGC-CR2)
- antibodies-online: Show 249 available CR2 Antibodies ranked by validation data
- Compare Top CR2 Antibodies
-
Quality Products:
-
Santa Cruz Biotechnology (SCBT) Antibodies for CR2
- Sino Biological Antibodies for CR2
Protein Products
- Search Origene for MassSpec and Protein Over-expression Lysates for CR2
- Origene Custom Protein Services for CR2
- Novus Biologicals proteins for CR2
- Sino Biological Cell Lysates for CR2
- Sino Biological Recombinant Proteins for CR2
- antibodies-online: Show 15 available CR2 Proteins ranked by validation data
- Compare Top CR2 Proteins
-
Signalway Proteins for CR2
Assay Products
- G Biosciences Immunotag™ Complement receptor type 2 ELISA Kit
- RayBiotech Human CD21/CR2/EBV receptor ELISA
- antibodies-online: Show 39 available CR2 Elisa Kits ranked by validation data
- Compare Top CR2 Elisa Kits
-
Quality Products:
-
Abcam assays for CR2
- Sino Biological Assays for CR2
No data available for DME Specific Peptides for CR2 Gene
Domains & Families for CR2 Gene
Gene Families for CR2 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- CD markers
- Disease related genes
- Plasma proteins
- Predicted intracellular proteins
- Predicted membrane proteins
Protein Domains for CR2 Gene
- InterPro:
- Blocks:
-
- Sushi domain/SCR domain/CCP module
- ProtoNet:
Suggested Antigen Peptide Sequences for CR2 Gene
- GenScript: Design optimal peptide antigens:
-
- Epstein-Barr virus receptor (CR2_HUMAN)
- CD21 protein (O15181_HUMAN)
- Complement receptor (Q08578_HUMAN)
Graphical View of Domain Structure for InterPro Entry
P20023- Family:
-
- Belongs to the receptors of complement activation (RCA) family.
Function for CR2 Gene
Molecular function for CR2 Gene
- UniProtKB/Swiss-Prot Function:
- Receptor for complement C3, for the Epstein-Barr virus on human B-cells and T-cells and for HNRNPU (PubMed:7753047). Participates in B lymphocytes activation (PubMed:7753047).
- UniProtKB/Swiss-Prot Function:
- (Microbial infection) Acts as a receptor for Epstein-Barr virus.
- GENATLAS Biochemistry:
- complement component (C3d/Epstein Barr virus) receptor 2 (see RCA@)
Phenotypes From GWAS Catalog for CR2 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001618 | virus receptor activity | IEA | -- |
| GO:0001848 | complement binding | IDA | 11034390 |
| GO:0003677 | DNA binding | IDA | 22885687 |
| GO:0004875 | complement receptor activity | NAS | 2827171 |
| GO:0004888 | transmembrane signaling receptor activity | NAS | 2827171 |
Phenotypes for CR2 Gene
Animal Models for CR2 Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for CR2 - Select products 50% OFF >
- * CR2 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for CR2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CR2
-
Santa Cruz Biotechnology (SCBT) CRISPR for CR2
miRNA for CR2 Gene
- miRTarBase miRNAs that target CR2
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for CR2
- Browse OriGene Inhibitory RNA Products For CR2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CR2
Clone Products
- Applied Biological Materials (abm): Clones for CR2 - Select products 50% OFF >
- * CR2 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for CR2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CR2
Cell Line Products
-
Horizon Cell Lines for CR2
No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for CR2 Gene
Localization for CR2 Gene
Subcellular locations from UniProtKB/Swiss-Prot for CR2 Gene
- Cell membrane. Single-pass type I membrane protein.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| extracellular | 4 |
| nucleus | 3 |
| cytoskeleton | 2 |
| endoplasmic reticulum | 2 |
| endosome | 2 |
| cytosol | 2 |
| lysosome | 2 |
| mitochondrion | 1 |
| golgi apparatus | 1 |
| peroxisome | 0 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005886 | plasma membrane | NAS,TAS | -- |
| GO:0016020 | membrane | IEA | -- |
| GO:0016021 | integral component of membrane | NAS | 2827171 |
| GO:0043235 | receptor complex | IDA | 23382219 |
| GO:0070062 | extracellular exosome | HDA | 20458337 |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for CR2 Gene
Pathways & Interactions for CR2 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Immune response Lectin induced complement pathway |
Immune response Alternative complement pathway
.56
Immune response Lectin induced complement pathway
.56
|
Immune response Classical complement pathway
.55
|
| 2 | B cell receptor signaling pathway (KEGG) | ||
| 3 | Complement and coagulation cascades | ||
| 4 | 4-1BB Pathway |
NF-KappaB Activation by EBV
.42
|
NF-kappaB Activation by Viruses
.42
|
| 5 | Measles | ||
Pathways by source for CR2 Gene
1 Sino Biological pathway for CR2 Gene
2 BioSystems pathways for CR2 Gene
4 KEGG pathways for CR2 Gene
5 GeneGo (Thomson Reuters) pathways for CR2 Gene
- Apoptosis and survival APRIL and BAFF signaling
- Immune response Alternative complement pathway
- Immune response BCR pathway
- Immune response Classical complement pathway
- Immune response Lectin induced complement pathway
3 Qiagen pathways for CR2 Gene
- NF-KappaB Activation by EBV
- NF-kappaB Activation by Viruses
- PI3K Signaling in B-Lymphocyte
Interacting Proteins for CR2 Gene
GPS-Prot Interaction Network for CR2
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0002376 | immune system process | IEA | -- |
| GO:0002430 | complement receptor mediated signaling pathway | IEA | -- |
| GO:0006955 | immune response | NAS | 2827171 |
| GO:0006958 | complement activation, classical pathway | IEA | -- |
| GO:0016032 | viral process | IEA | -- |
Transcripts for CR2 Gene
mRNA/cDNA for CR2 Gene
- 2 REFSEQ mRNAs :
- 15 NCBI additional mRNA sequence :
- 7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000367058 4063 nts (view in UCSC)
- ENST00000367059 3877 nts (view in UCSC)
- ENST00000367057 4139 nts (view in UCSC)
- ENST00000479186 536 nts (view in UCSC)
- ENST00000485707 832 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for CR2 - Select products 50% OFF >
- * CR2 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for CR2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CR2
-
Santa Cruz Biotechnology (SCBT) CRISPR for CR2
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for CR2
- Browse OriGene Inhibitory RNA Products For CR2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CR2
Clone Products
- Applied Biological Materials (abm): Clones for CR2 - Select products 50% OFF >
- * CR2 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for CR2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CR2
| ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5a | · | 5b | ^ | 6a | · | 6b | ^ | 7 | ^ | 8 | ^ | 9a | · | 9b | ^ | 10 | ^ | 11 | ^ | 12a | · | 12b | ^ | 13a | · | 13b | · | 13c | ^ | 14 | ^ | 15 | ^ | 16a | · | 16b | · | 16c | ^ | 17 | ^ | 18 | ^ |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP2: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP3: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
| SP4: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP5: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP6: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
| SP7: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP8: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP9: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP10: |
| ExUns: | 19 | ^ | 20 |
|---|---|---|---|
| SP1: | |||
| SP2: | |||
| SP3: | |||
| SP4: | |||
| SP5: | |||
| SP6: | |||
| SP7: | |||
| SP8: | |||
| SP9: | |||
| SP10: |
Relevant External Links for CR2 Gene
- GeneLoc Exon Structure for
- CR2
Expression for CR2 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Blood (Hematopoietic System)
- Mature B-Cells Peripheral Blood
- Adipose (Muscoskeletal System)
-
Spleen (Hematopoietic System)
-
Tonsil (Hematopoietic System)
mRNA differential expression in normal tissues according to GTEx for CR2 Gene
This gene is overexpressed in Spleen (x22.1) and Small Intestine - Terminal Ileum (x4.4).
This gene is overexpressed in Lymph node (38.2), Plasma (11.9), and Serum (9.0).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CR2 Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CR2
SOURCE GeneReport for Unigene cluster for CR2 Gene:
Hs.445757mRNA Expression by UniProt/SwissProt for CR2 Gene:
P20023-CR2_HUMAN
Tissue specificity:
Mature B-lymphocytes, T-lymphocytes, pharyngeal epithelial cells, astrocytes and follicular dendritic cells of the spleen.
Evidence on tissue expression from TISSUES for CR2 Gene
- Spleen(4.7)
- Lymph node(3.9)
- Blood(3.7)
- Bone marrow(3.1)
- Intestine(3)
- Stomach(2.4)
- Kidney(2.3)
- Skin(2.2)
- Liver(2.1)
- Nervous system(2.1)
Phenotype-based relationships between genes and organs from Gene ORGANizer for CR2 Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- cardiovascular
- digestive
- endocrine
- immune
- integumentary
- lymphatic
- nervous
- reproductive
- respiratory
- skeletal muscle
- skeleton
Regions:
Head and neck:
- brain
- ear
- eye
- head
- hypothalamus
- meninges
- middle ear
- neck
- pituitary gland
- sinus
- skull
- thyroid
Thorax:
- bronchus
- heart
- lung
Abdomen:
- adrenal gland
- intestine
- large intestine
- liver
- small intestine
- spleen
- stomach
Pelvis:
- anus
- rectum
- uterus
Limb:
- ankle
- digit
- elbow
- finger
- foot
- hand
- hip
- knee
- lower limb
- shoulder
- toe
- upper limb
- wrist
General:
- blood
- blood vessel
- bone marrow
- coagulation system
- lymph node
- peripheral nerve
- peripheral nervous system
- red blood cell
- skin
- white blood cell
Primer Products
-
OriGene qPCR primer pairs for CR2
Gene Expression Assay Products
No data available for Protein tissue co-expression partners for CR2 Gene
Orthologs for CR2 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | CR2 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | CR2 30 |
|
||
| Cow (Bos Taurus) |
Mammalia | CR2 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Cr2 30 17 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Cr2 30 |
|
||
| Oppossum (Monodelphis domestica) |
Mammalia | CR2 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
ManyToMany | |
| Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
OneToMany | |
| Zebrafish (Danio rerio) |
Actinopterygii | selp 31 |
|
ManyToMany | |
| Fruit Fly (Drosophila melanogaster) |
Insecta | CG10186 31 |
|
ManyToMany | |
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
- Species where no ortholog for CR2 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- Alpha proteobacteria (Wolbachia pipientis)
- Amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- Baker's yeast (Saccharomyces cerevisiae)
- Barley (Hordeum vulgare)
- Beta proteobacteria (Neisseria meningitidis)
- Bread mold (Neurospora crassa)
- Chicken (Gallus gallus)
- Chromalveolata (Phytophthora infestans)
- Common water flea (Daphnia pulex)
- Corn (Zea mays)
- E. coli (Escherichia coli)
- Filamentous fungi (Aspergillus nidulans)
- Firmicute Bacteria (Streptococcus pneumoniae)
- Fission Yeast (Schizosaccharomyces pombe)
- Green Algae (Chlamydomonas reinhardtii)
- Honey Bee (Apis mellifera)
- K. Lactis Yeast (Kluyveromyces lactis)
- Loblloly Pine (Pinus taeda)
- Malaria Parasite (Plasmodium falciparum)
- Medicago Trunc (Medicago Truncatula)
- Moss (Physcomitrella patens)
- Orangutan (Pongo pygmaeus)
- Pig (Sus scrofa)
- Rainbow Trout (Oncorhynchus mykiss)
- Rice (Oryza sativa)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Vase (Ciona intestinalis)
- Sea Urchin (Strongylocentrotus purpuratus)
- Sorghum (Sorghum bicolor)
- Soybean (Glycine max)
- Stem Rust Fungus (Puccinia graminis)
- Sugarcane (Saccharum officinarum)
- Thale Cress (Arabidopsis thaliana)
- Tomato (Lycopersicon esculentum)
- Toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- Tropical Clawed Frog (Silurana tropicalis)
- Wheat (Triticum aestivum)
- Worm (Caenorhabditis elegans)
Evolution for CR2 Gene
- ENSEMBL:
- Gene Tree for CR2 (if available)
- TreeFam:
- Gene Tree for CR2 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for CR2: view image
Paralogs for CR2 Gene
Paralogs for CR2 Gene
(3) SIMAP similar genes for CR2 Gene using alignment to 4 proteins:
- CR2_HUMAN
- C9J0D9_HUMAN
- Q08578_HUMAN
- Q5SR47_HUMAN
Variants for CR2 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CR2 Gene
| SNP ID | Clinical significance and condition | Chr 01 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 636387 | Uncertain Significance: not provided | 207,469,691(+) | C/T | INTRON_VARIANT | |
| 636451 | Uncertain Significance: not provided | 207,470,917(+) | G/A | SPLICE_DONOR_VARIANT | |
| 636497 | Uncertain Significance: not provided | 207,473,713(+) | G/A | MISSENSE_VARIANT,INTRON_VARIANT | |
| 638326 | Pathogenic: Common variable immunodeficiency 7 | 207,468,543(+) | T/A | NONSENSE | |
| 638835 | Uncertain Significance: Common variable immunodeficiency 7 | 207,485,486(+) | C/T | NONSENSE |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv2758993 | CNV | gain+loss | 17122850 |
Residual Variation Intolerance Score:
98% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
15.22;
96.99% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for CR2 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CR2 Gene
Disorders for CR2 Gene
(63) MalaCards diseases for CR2 Gene - From: OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| immunodeficiency, common variable, 7 |
|
|
| systemic lupus erythematosus 9 |
|
|
| common variable immunodeficiency |
|
|
| immunodeficiency, common variable, 2 |
|
|
| systemic lupus erythematosus |
|
Search CR2 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
CR2_HUMAN- Systemic lupus erythematosus 9 (SLEB9) [MIM:610927]: A chronic, relapsing, inflammatory, and often febrile multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints, kidneys and serosal membranes. It is of unknown etiology, but is thought to represent a failure of the regulatory mechanisms of the autoimmune system. The disease is marked by a wide range of system dysfunctions, an elevated erythrocyte sedimentation rate, and the formation of LE cells in the blood or bone marrow. {ECO:0000269 PubMed:17360460}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
- Immunodeficiency, common variable, 7 (CVID7) [MIM:614699]: A primary immunodeficiency characterized by antibody deficiency, hypogammaglobulinemia, recurrent bacterial infections and an inability to mount an antibody response to antigen. The defect results from a failure of B-cell differentiation and impaired secretion of immunoglobulins; the numbers of circulating B-cells is usually in the normal range, but can be low. {ECO:0000269 PubMed:22035880}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Genatlas disease for CR2 Gene
infections,recurrent,pyogenic
Additional Disease Information for CR2
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
Publications for CR2 Gene
- Association of a common complement receptor 2 haplotype with increased risk of systemic lupus erythematosus. (PMID: 17360460) Wu H … Tsao BP (Proceedings of the National Academy of Sciences of the United States of America 2007) 3 4 41
- The crystal structure of human CD21: Implications for Epstein-Barr virus and C3d binding. (PMID: 12122212) Prota AE … Fingeroth JD (Proceedings of the National Academy of Sciences of the United States of America 2002) 3 4 23
- Evidence for a new transcript of the Epstein-Barr virus/C3d receptor (CR2, CD21) which is due to alternative exon usage. (PMID: 10068037) Barel M … Frade R (Molecular immunology 1998) 3 4 23
- A crystal structure of the complex between human complement receptor 2 and its ligand C3d. (PMID: 21527715) van den Elsen JM … Isenman DE (Science (New York, N.Y.) 2011) 3 4
- Transferability of type 2 diabetes implicated loci in multi-ethnic cohorts from Southeast Asia. (PMID: 21490949) Sim X … Tai ES (PLoS genetics 2011) 3 41
ExternalLinks
Products for CR2 Gene
- View all 15 R&D Systems CR2 (CD21) Products
- View all R&D Systems CR2 (CD21) Proteins and Enzymes
- View all 11 R&D Systems CR2 (CD21) Primary Antibodies
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- Custom Antibody ServicesOriGene Antibodies for CR2
- AM03064FC-N
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- AM10060SU-N
- AM31230AF-N
- AM31230FC-N
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- AM32139PU-N
- AM32268SU-N
- AM39015FC-N
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- DDX0120P-100
- SM1785F
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- TA327627
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- Sino Biological Human cDNA Clone for CR2
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- VectorBuilder Stable cell line generation for CR2
- antibodies-online: Show 249 available CR2 Antibodies ranked by validation data
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- antibodies-online: Show 15 available CR2 Proteins ranked by validation data
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- Santa Cruz Biotechnology (SCBT) Antibodies for CR2
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- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CR2
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Sources for CR2 Gene
- (1) GeneCards
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- (3) NCBI Entrez Gene
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- (5) Ensembl
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- (64) Proteopedia
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- (67) Reactome
- (68) GeneGo (Thomson Reuters)
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- (73) miRTarBase
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