The protein encoded by this gene is a single-pass type I membrane protein and member of the immunoglobulin superfamily of receptors. The encoded protein may be involved in the regulation of antigen presentation. A soluble form of this protein can bind to dendritic cells and inhibit their maturation. Three transcript variants encoding different isoforms have been found for this ... See more...

Aliases for CD83 Gene

Aliases for CD83 Gene

  • CD83 Molecule 2 3 5
  • CD83 Antigen (Activated B Lymphocytes, Immunoglobulin Superfamily) 2 3
  • B-Cell Activation Protein 3 4
  • Cell Surface Protein HB15 3 4
  • CD83 Antigen 3 4
  • HCD83 3 4
  • BL11 2 3
  • HB15 2 3
  • Cell-Surface Glycoprotein 3
  • CD83 Molecule 2
  • CD83 5

External Ids for CD83 Gene

Previous GeneCards Identifiers for CD83 Gene

  • GC06P014175
  • GC06P014225
  • GC06P014063

Summaries for CD83 Gene

Entrez Gene Summary for CD83 Gene

  • The protein encoded by this gene is a single-pass type I membrane protein and member of the immunoglobulin superfamily of receptors. The encoded protein may be involved in the regulation of antigen presentation. A soluble form of this protein can bind to dendritic cells and inhibit their maturation. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]

GeneCards Summary for CD83 Gene

CD83 (CD83 Molecule) is a Protein Coding gene. Diseases associated with CD83 include Sulfamethoxazole Allergy and Plague. Among its related pathways are Hematopoietic Stem Cells and Lineage-specific Markers and T cell receptor signaling pathway.

UniProtKB/Swiss-Prot Summary for CD83 Gene

  • May play a significant role in antigen presentation or the cellular interactions that follow lymphocyte activation.

Gene Wiki entry for CD83 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CD83 Gene

Genomics for CD83 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CD83 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
GH06J014117 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 636.9 +3.8 3833 8.6 SP1 CTCF HNRNPL ATF7 PRDM10 ZNF512 RFX1 NFKBIZ KDM1A ZNF692 CD83 RF00017-5288
GH06J014107 Promoter/Enhancer 1.7 EPDnew FANTOM5 ENCODE dbSUPER 646.3 -8.0 -7966 3.2 ARHGAP35 SP1 ZNF512 LEF1 IKZF1 POLR2A BACH1 JUND STAT3 MTA2 CD83 RF00017-5287 lnc-CD83-6 RNF182
GH06J014091 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 54.4 -21.0 -20955 11 SP1 BACH1 LARP7 STAT3 RELA TCF12 IKZF2 POLR2A TRIM22 YY1 lnc-CD83-11 CD83 RNU7-133P LOC105374939 lnc-CD83-7 lnc-MCUR1-13 RNF182
GH06J014210 Promoter/Enhancer 2.3 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 15 +94.0 93999 2.6 SP1 CTCF HNRNPL ATF7 PRDM10 ZNF512 LEF1 IKZF1 RFX5 ZNF692 ENSG00000285639 ENSG00000286281 lnc-MCUR1-14 CD83 RNU7-133P ENSG00000234540
GH06J014073 Enhancer 1.2 FANTOM5 ENCODE dbSUPER 27.1 -42.3 -42275 2.2 PRDM10 RFX1 IKZF1 ZSCAN4 IKZF2 SP1 TRIM22 ZNF37A PKNOX1 RELA CD83 RNU7-133P RNF182 RANBP9 RF00017-5286 lnc-MCUR1-13
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CD83 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CD83

Top Transcription factor binding sites by QIAGEN in the CD83 gene promoter:
  • AML1a
  • Cart-1
  • Evi-1
  • FOXF2
  • LCR-F1
  • MIF-1
  • Olf-1
  • POU2F1
  • POU2F1a
  • S8

Genomic Locations for CD83 Gene

Genomic Locations for CD83 Gene
chr6:14,117,256-14,136,918
(GRCh38/hg38)
Size:
19,663 bases
Orientation:
Plus strand
chr6:14,117,865-14,137,149
(GRCh37/hg19)
Size:
19,285 bases
Orientation:
Plus strand

Genomic View for CD83 Gene

Genes around CD83 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CD83 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CD83 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CD83 Gene

Proteins for CD83 Gene

  • Protein details for CD83 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q01151-CD83_HUMAN
    Recommended name:
    CD83 antigen
    Protein Accession:
    Q01151
    Secondary Accessions:
    • Q5THX9

    Protein attributes for CD83 Gene

    Size:
    205 amino acids
    Molecular mass:
    23042 Da
    Quaternary structure:
    • Monomer.

    Three dimensional structures from OCA and Proteopedia for CD83 Gene

neXtProt entry for CD83 Gene

Post-translational modifications for CD83 Gene

  • Glycosylation at Asn79, Asn96, and Asn117
  • Modification sites at PhosphoSitePlus

Other Protein References for CD83 Gene

Antibody Products

  • Abcam antibodies for CD83

No data available for DME Specific Peptides for CD83 Gene

Domains & Families for CD83 Gene

Gene Families for CD83 Gene

HGNC:
Human Protein Atlas (HPA):
  • CD markers
  • Predicted membrane proteins

Protein Domains for CD83 Gene

InterPro:
Blocks:
  • Immunoglobulin subtype
ProtoNet:

Suggested Antigen Peptide Sequences for CD83 Gene

GenScript: Design optimal peptide antigens:
  • Cell surface protein HB15 (CD83_HUMAN)
genes like me logo Genes that share domains with CD83: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for CD83 Gene

Function for CD83 Gene

Molecular function for CD83 Gene

UniProtKB/Swiss-Prot Function:
May play a significant role in antigen presentation or the cellular interactions that follow lymphocyte activation.
GENATLAS Biochemistry:
cell differentiation antigen precursor CD83 dendritic cell marker,recognized by monoclonal antibody HB15,expressed in langerhans cells

Phenotypes From GWAS Catalog for CD83 Gene

Gene Ontology (GO) - Molecular Function for CD83 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 20374249
genes like me logo Genes that share ontologies with CD83: view
genes like me logo Genes that share phenotypes with CD83: view

Animal Models for CD83 Gene

MGI Knock Outs for CD83:
  • Cd83 Cd83<tm1Tft>
  • Cd83 Cd83<tm1b(KOMP)Wtsi>

Animal Model Products

CRISPR Products

miRNA for CD83 Gene

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CD83

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for CD83 Gene

Localization for CD83 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CD83 Gene

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 CD83 gene
Compartment Confidence
plasma membrane 5
extracellular 3
cytoskeleton 2
mitochondrion 2
nucleus 2
endoplasmic reticulum 2
endosome 2
cytosol 2
lysosome 2
peroxisome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for CD83 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS 9310491
GO:0005887 integral component of plasma membrane TAS 8422464
GO:0009897 external side of plasma membrane IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with CD83: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CD83 Gene

Pathways & Interactions for CD83 Gene

genes like me logo Genes that share pathways with CD83: view

Pathways by source for CD83 Gene

1 Cell Signaling Technology pathway for CD83 Gene

Gene Ontology (GO) - Biological Process for CD83 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006952 defense response TAS 1378080
GO:0006959 humoral immune response TAS 8422464
GO:0007165 signal transduction TAS 9310491
GO:0014070 response to organic cyclic compound IEA --
GO:0032713 negative regulation of interleukin-4 production IEA --
genes like me logo Genes that share ontologies with CD83: view

No data available for SIGNOR curated interactions for CD83 Gene

Drugs & Compounds for CD83 Gene

(5) Drugs for CD83 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(5) Additional Compounds for CD83 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with CD83: view

Transcripts for CD83 Gene

mRNA/cDNA for CD83 Gene

3 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
2 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 CD83

Alternative Splicing Database (ASD) splice patterns (SP) for CD83 Gene

ExUns: 1 ^ 2a · 2b ^ 3a · 3b · 3c ^ 4a · 4b ^ 5 ^ 6a · 6b · 6c · 6d
SP1: - - - - -
SP2: - - -
SP3: - - -
SP4: - -
SP5: - -
SP6: -

Relevant External Links for CD83 Gene

GeneLoc Exon Structure for
CD83

Expression for CD83 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CD83 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CD83

SOURCE GeneReport for Unigene cluster for CD83 Gene:

Hs.595133

mRNA Expression by UniProt/SwissProt for CD83 Gene:

Q01151-CD83_HUMAN
Tissue specificity: Expressed by activated lymphocytes, Langerhans cells and interdigitating reticulum cells.

Evidence on tissue expression from TISSUES for CD83 Gene

  • Nervous system(4.9)
  • Blood(4.4)
  • Lymph node(3.9)
  • Lung(3.9)
  • Spleen(3.8)
  • Bone marrow(3.4)
  • Intestine(2.8)
  • Skin(2.7)
  • Kidney(2.6)
  • Liver(2.5)
  • Heart(2.3)
  • Muscle(2.2)
  • Pancreas(2.1)
genes like me logo Genes that share expression patterns with CD83: view

No data available for mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for CD83 Gene

Orthologs for CD83 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CD83 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia CD83 30 31
  • 99.35 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia CD83 30 31
  • 81.03 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia CD83 30 31
  • 80.98 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Cd83 30 17 31
  • 75.65 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Cd83 30
  • 75.47 (n)
Oppossum
(Monodelphis domestica)
Mammalia CD83 31
  • 48 (a)
OneToOne
Chicken
(Gallus gallus)
Aves CD83 30 31
  • 52.69 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia CD83 31
  • 27 (a)
OneToOne
Species where no ortholog for CD83 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)
  • 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)
  • Fruit Fly (Drosophila melanogaster)
  • 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)
  • Platypus (Ornithorhynchus anatinus)
  • 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 Squirt (Ciona savignyi)
  • 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)
  • Zebrafish (Danio rerio)

Evolution for CD83 Gene

ENSEMBL:
Gene Tree for CD83 (if available)
TreeFam:
Gene Tree for CD83 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CD83: view image

Paralogs for CD83 Gene

Pseudogenes.org Pseudogenes for CD83 Gene

genes like me logo Genes that share paralogs with CD83: view

No data available for Paralogs for CD83 Gene

Variants for CD83 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CD83 Gene

SNP ID Clinical significance and condition Chr 06 pos Variation AA Info Type
782470 Benign: not provided 14,135,163(+) G/A MISSENSE_VARIANT
rs2230193 - p.Arg182Gln

Additional dbSNP identifiers (rs#s) for CD83 Gene

Structural Variations from Database of Genomic Variants (DGV) for CD83 Gene

Variant ID Type Subtype PubMed ID
esv3327144 CNV insertion 20981092
nsv1133627 CNV deletion 24896259

Variation tolerance for CD83 Gene

Residual Variation Intolerance Score: 74.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.04; 37.50% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CD83 Gene

Human Gene Mutation Database (HGMD)
CD83
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CD83

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CD83 Gene

Disorders for CD83 Gene

MalaCards: The human disease database

(8) MalaCards diseases for CD83 Gene - From: DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search CD83 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for CD83

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with CD83: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CD83 Gene

Publications for CD83 Gene

  1. A novel cell-surface molecule expressed by human interdigitating reticulum cells, Langerhans cells, and activated lymphocytes is a new member of the Ig superfamily. (PMID: 1378080) Zhou LJ … Tedder TF (Journal of immunology (Baltimore, Md. : 1950) 1992) 2 3 4 23
  2. Subtractive cDNA cloning of a novel member of the Ig gene superfamily expressed at high levels in activated B lymphocytes. (PMID: 8422464) Kozlow EJ … Kehrl JH (Blood 1993) 2 3 4
  3. CD83 gene polymorphisms increase susceptibility to human invasive cervical cancer. (PMID: 18056445) Zhang Z … Rader JS (Cancer research 2007) 3 41
  4. CD83 is preformed inside monocytes, macrophages and dendritic cells, but it is only stably expressed on activated dendritic cells. (PMID: 15320871) Cao W … Lu J (The Biochemical journal 2005) 3 23
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4

Products for CD83 Gene

Sources for CD83 Gene