CR2 Gene (Protein Coding)

Complement C3d Receptor 2

GC01P207454
GIFtS:
45
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

  • Complement C3d Receptor 2 2 3 5
  • Complement Component (3d/Epstein Barr Virus) Receptor 2 2 3
  • Complement Component 3d Receptor 2 2 3
  • Epstein-Barr Virus Receptor 2 4
  • Complement Receptor Type 2 3 4
  • EBV Receptor 3 4
  • C3DR 3 4
  • Complement C3d Receptor 4
  • CD21 Antigen 4
  • CVID7 3
  • SLEB9 3
  • CD21 3
  • Cr2 4
  • CR 3

External Ids for CR2 Gene

Previous GeneCards Identifiers for CR2 Gene

  • GC01P206287
  • GC01P203337
  • GC01P204270
  • GC01P204578
  • GC01P204016
  • GC01P205694
  • GC01P207627
  • GC01P178320

Summaries for CR2 Gene

Entrez Gene Summary 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 Hematopoietic cell lineage and B cell receptor signaling pathway (KEGG). Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and transmembrane signaling receptor activity. An important paralog of this gene is CR1.

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.

Gene Wiki entry for CR2 Gene

Additional gene information for CR2 Gene

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 for CR2 Gene

Promoters and enhancers for CR2 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH01J207454 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE 500.7 +0.6 571 2 HNRNPK CTCF SIN3A USF1 ZIC2 ZBTB10 CLOCK POLR2A ZNF423 ZBTB26 CR2 NONHSAG004130.2
GH01J207319 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 10.1 -132.2 -132192 5.5 HNRNPK ZNF217 CTCF TCF12 SIN3A NRF1 USF1 POLR2G SP1 RBAK CD55 EIF2D CD46 ENSG00000234981 CDCA4P4 CR2 C4BPA NONHSAG004121.2
GH01J207411 Enhancer 1.2 FANTOM5 Ensembl ENCODE 18.8 -39.1 -39129 9 SP1 EP300 RELA TRIM22 TCF12 CBFB SRF TARDBP ARNT MEF2B ENSG00000283044 LOC105372880 lnc-CD55-5 CR2 CD55 CR1 C1orf116 C4BPA lnc-CD55-3
GH01J207309 Promoter/Enhancer 1.5 Ensembl ENCODE dbSUPER 10.3 -142.9 -142941 4.1 ZSCAN5C TCF12 NRF1 GTF2E2 JUND POLR2A AFF1 RFX1 HES1 MYC CD55 CR2 piR-50968-013 ENSG00000237074
GH01J207424 Enhancer 0.8 FANTOM5 ENCODE 18.1 -29.2 -29211 0.7 ESRRA ARNT MEF2B ZFHX2 EBF1 IKZF1 TBP ZNF18 SPI1 BCL3 CR2 CR1 C1orf116 C4BPA lnc-CR2-3 LOC105372880 lnc-CD55-5
- 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 UCSC Golden Path with GeneCards custom track

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
chr1:207,454,230-207,489,897
(GRCh38/hg38)
Size:
35,668 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:
CR2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CR2 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for CR2 Gene

Proteins for CR2 Gene

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  • Protein details for CR2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P20023-CR2_HUMAN
    Recommended name:
    Complement receptor type 2
    Protein Accession:
    P20023
    Secondary Accessions:
    • 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

    Alternative splice isoforms for CR2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CR2 Gene

Protein Expression for CR2 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for CR2 Gene

  • Glycosylation at Asn121, Asn127, Asn294, Asn372, Asn492, Asn623, Asn682, Asn800, Asn823, Asn861, and Asn911
  • Modification sites at PhosphoSitePlus

Other Protein References for CR2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

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

Blocks:
  • Sushi domain/SCR domain/CCP module
InterPro:
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

UniProtKB/Swiss-Prot:

CR2_HUMAN :
  • Belongs to the receptors of complement activation (RCA) family.
Family:
  • Belongs to the receptors of complement activation (RCA) family.
genes like me logo Genes that share domains with CR2: view

Function for CR2 Gene

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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

Gene Ontology (GO) - Molecular Function 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
genes like me logo Genes that share ontologies with CR2: view
genes like me logo Genes that share phenotypes with CR2: view

Human Phenotype Ontology for CR2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CR2 Gene

MGI Knock Outs for CR2:
  • Cr2 Cr2<tm1Hmo>
  • Cr2 Cr2<tm1Crr>
  • Cr2 Cr2<tm1.1Jhws>
  • Cr2 Cr2<tm2.1Jhws>
  • Cr2 Cr2<tm1Tft>

Animal Model Products

CRISPR Products

miRNA for CR2 Gene

miRTarBase miRNAs that target CR2

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CR2

Clone Products

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.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CR2 gene
Compartment Confidence
plasma membrane 5
extracellular 2
cytoskeleton 2
nucleus 2
endoplasmic reticulum 2
endosome 2
cytosol 2
lysosome 2
mitochondrion 1
golgi apparatus 1
peroxisome 0

Gene Ontology (GO) - Cellular Components for CR2 Gene

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,IEA 2827171
GO:0043235 receptor complex IDA 23382219
GO:0070062 extracellular exosome HDA 20458337
genes like me logo Genes that share ontologies with CR2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CR2 Gene

Pathways & Interactions for CR2 Gene

PathCards logo

SuperPathways 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)
B cell receptor signaling pathway
.38
B Cell Receptor Signaling Pathway
.32
3 Complement and coagulation cascades
Complement and coagulation cascades
.65
Complement and Coagulation Cascades
.65
4 4-1BB Pathway
NF-KappaB Activation by EBV
.42
NF-kappaB Activation by Viruses
.42
5 Measles
Epstein-Barr virus infection
.35
genes like me logo Genes that share pathways with CR2: view

Pathways by source for CR2 Gene

1 Sino Biological pathway 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
1 R&D Systems pathway for CR2 Gene
3 Qiagen pathways for CR2 Gene
  • NF-KappaB Activation by EBV
  • NF-kappaB Activation by Viruses
  • PI3K Signaling in B-Lymphocyte

SIGNOR curated interactions for CR2 Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for CR2 Gene

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 --
genes like me logo Genes that share ontologies with CR2: view

Drugs & Compounds for CR2 Gene

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  1. Drug

(7) Drugs for CR2 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(7) Additional Compounds for CR2 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with CR2: view

Transcripts for CR2 Gene

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  2. miRNA
  3. Inhibitory RNA
  4. Clone

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 :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CR2

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CR2 Gene

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

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  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CR2 Gene

mRNA expression in normal human tissues for CR2 Gene
mRNA expression by BioGPS for CR2 GenemRNA expression by GTEx for CR2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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).

Protein differential expression in normal tissues from HIPED for CR2 Gene

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.445757

mRNA 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(4.6)
  • Lymph node(3.7)
  • Blood(3.4)
  • Intestine(2.6)
  • Bone marrow(2.3)

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
genes like me logo Genes that share expression patterns with CR2: view

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.

Orthologs for CR2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia CR2 31 30
  • 99.54 (n)
 OneToOne
dog
(Canis familiaris)
 Mammalia CR2 30
  • 83.86 (n)
cow
(Bos Taurus)
 Mammalia CR2 31 30
  • 82.26 (n)
 OneToOne
mouse
(Mus musculus)
 Mammalia Cr2 17 31 30
  • 76.64 (n)
rat
(Rattus norvegicus)
 Mammalia Cr2 30
  • 75.73 (n)
oppossum
(Monodelphis domestica)
 Mammalia CR2 31
  • 42 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia -- 31
  • 30 (a)
 ManyToMany
lizard
(Anolis carolinensis)
 Reptilia -- 31
  • 31 (a)
 OneToMany
zebrafish
(Danio rerio)
 Actinopterygii selp 31
  • 10 (a)
 ManyToMany
fruit fly
(Drosophila melanogaster)
 Insecta CG10186 31
  • 13 (a)
 ManyToMany
sea squirt
(Ciona savignyi)
 Ascidiacea -- 31
  • 8 (a)
 OneToMany
Species where no ortholog for CR2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 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
genes like me logo Genes that share paralogs with CR2: view

Variants for CR2 Gene

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  1. SNP Genotyping and Copy Number Assay

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
568328 Uncertain Significance: Common variable immunodeficiency 7 207,470,057(+) A/C MISSENSE_VARIANT
568808 Uncertain Significance: Common variable immunodeficiency 7 207,475,156(+) G/A MISSENSE_VARIANT
570519 Uncertain Significance: Common variable immunodeficiency 7 207,476,300(+) G/A MISSENSE_VARIANT
571625 Uncertain Significance: Common variable immunodeficiency 7 207,468,833(+) A/G MISSENSE_VARIANT
571680 Uncertain Significance: Common variable immunodeficiency 7 207,468,893(+) A/T MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for CR2 Gene

Structural Variations from Database of Genomic Variants (DGV) for CR2 Gene

Variant ID Type Subtype PubMed ID
esv2758993 CNV gain+loss 17122850

Variation tolerance for CR2 Gene

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

Human Gene Mutation Database (HGMD)
CR2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CR2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CR2 Gene

Disorders for CR2 Gene

MalaCards: The human disease database

(63) MalaCards diseases for CR2 Gene - From: OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
immunodeficiency, common variable, 7
  • cvid7
systemic lupus erythematosus 9
  • systemic lupus erythematosus, susceptibility to, 9
common variable immunodeficiency
  • acquired agammaglobulinemia
immunodeficiency, common variable, 2
  • cvid2
systemic lupus erythematosus
  • sle
- elite association - COSMIC cancer census association via MalaCards
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
genes like me logo Genes that share disorders with CR2: view

Publications for CR2 Gene

  1. 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 54
  2. 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 54
  3. 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 54
  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 54
  5. 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 54

ExternalLinks

View latest publications for CR2 gene in Mastermind

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