Aliases for CD33 Gene

Aliases for CD33 Gene

  • CD33 Molecule 2 3 5
  • Sialic Acid-Binding Ig-Like Lectin 3 3 4
  • Myeloid Cell Surface Antigen CD33 3 4
  • CD33 Antigen (Gp67) 2 3
  • SIGLEC3 3 4
  • Gp67 3 4
  • Sialic Acid Binding Ig-Like Lectin 3 2
  • CD33 Molecule Transcript 3
  • CD33 Antigen 4
  • SIGLEC-3 3
  • Siglec-3 4
  • P67 3

External Ids for CD33 Gene

Previous GeneCards Identifiers for CD33 Gene

  • GC19P052358
  • GC19P052089
  • GC19P056404
  • GC19P056420
  • GC19P051729
  • GC19P048061
  • GC19P051225

Summaries for CD33 Gene

GeneCards Summary for CD33 Gene

CD33 (CD33 Molecule) is a Protein Coding gene. Diseases associated with CD33 include Acute Leukemia and Acute Promyelocytic Leukemia. Among its related pathways are Innate Immune System and Hematopoietic cell lineage. Gene Ontology (GO) annotations related to this gene include carbohydrate binding. An important paralog of this gene is SIGLEC6.

UniProtKB/Swiss-Prot Summary for CD33 Gene

  • Sialic-acid-binding immunoglobulin-like lectin (Siglec) that plays a role in mediating cell-cell interactions and in maintaining immune cells in a resting state (PubMed:10611343, PubMed:15597323, PubMed:11320212). Preferentially recognizes and binds alpha-2,3- and more avidly alpha-2,6-linked sialic acid-bearing glycans (PubMed:7718872). Upon engagement of ligands such as C1q or syalylated glycoproteins, two immunoreceptor tyrosine-based inhibitory motifs (ITIMs) located in CD33 cytoplasmic tail are phosphorylated by Src-like kinases such as LCK (PubMed:28325905, PubMed:10887109). These phosphorylations provide docking sites for the recruitment and activation of protein-tyrosine phosphatases PTPN6/SHP-1 and PTPN11/SHP-2 (PubMed:10556798, PubMed:10206955, PubMed:10887109). In turn, these phosphatases regulate downstream pathways through dephosphorylation of signaling molecules (PubMed:10206955, PubMed:10887109). One of the repressive effect of CD33 on monocyte activation requires phosphoinositide 3-kinase/PI3K (PubMed:15597323).

Additional gene information for CD33 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CD33 Gene

Genomics for CD33 Gene

GeneHancer (GH) Regulatory Elements for CD33 Gene

Promoters and enhancers for CD33 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 CD33 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CD33

Top Transcription factor binding sites by QIAGEN in the CD33 gene promoter:
  • AREB6
  • Arnt
  • C/EBPalpha
  • GATA-1
  • NF-kappaB
  • NF-kappaB1
  • PPAR-gamma1
  • PPAR-gamma2
  • RelA
  • STAT1

Genomic Locations for CD33 Gene

Genomic Locations for CD33 Gene
chr19:51,215,537-51,243,860
(GRCh38/hg38)
Size:
28,324 bases
Orientation:
Plus strand
chr19:51,728,320-51,747,115
(GRCh37/hg19)
Size:
18,796 bases
Orientation:
Plus strand

Genomic View for CD33 Gene

Genes around CD33 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CD33 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CD33 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CD33 Gene

Proteins for CD33 Gene

  • Protein details for CD33 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P20138-CD33_HUMAN
    Recommended name:
    Myeloid cell surface antigen CD33
    Protein Accession:
    P20138
    Secondary Accessions:
    • B4E3P8
    • C9JEN7
    • F8WAL2
    • Q8TD24

    Protein attributes for CD33 Gene

    Size:
    364 amino acids
    Molecular mass:
    39825 Da
    Quaternary structure:
    • Homodimer; disulfide-linked (PubMed:10887109). Interacts with PTPN6/SHP-1 and PTPN11/SHP-2 upon phosphorylation (PubMed:10556798, PubMed:10206955). Interacts with C1QA (via C-terminus); this interaction activates CD33 inhibitory motifs (PubMed:28325905).
    Miscellaneous:
    • [Isoform CD33m]: Mostly detected on NKL and myeloid cell lines but poorly expressed on B-cell lines and T-lymphocytes.

    Three dimensional structures from OCA and Proteopedia for CD33 Gene

    Alternative splice isoforms for CD33 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CD33 Gene

Post-translational modifications for CD33 Gene

  • Glycosylated. Glycosylation at Asn-100 is critical for regulating ligand recognition.
  • Phosphorylation of Tyr-340 is involved in binding to PTPN6 and PTPN11. Phosphorylation of Tyr-358 is involved in binding to PTPN6. LCK phosphorylates Tyr-340 efficiently and Tyr-358 to a lesser extent.
  • Glycosylation at Asn160, Asn209, Asn100, Asn230, and Asn113
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Abcam antibodies for CD33

No data available for DME Specific Peptides for CD33 Gene

Domains & Families for CD33 Gene

Gene Families for CD33 Gene

HGNC:
Human Protein Atlas (HPA):
  • CD markers
  • FDA approved drug targets
  • Plasma proteins
  • Predicted membrane proteins

Protein Domains for CD33 Gene

Blocks:
  • Immunoglobulin subtype
  • Immunoglobulin V-set
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CD33 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ50122, highly similar to Myeloid cell surface antigen CD33 (B4DF51_HUMAN)
  • gp67 (CD33_HUMAN)
  • CD33 antigen (Gp67), isoform CRA_b (Q546G0_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P20138

UniProtKB/Swiss-Prot:

CD33_HUMAN :
  • Contains 2 copies of a cytoplasmic motif that is referred to as the immunoreceptor tyrosine-based inhibitor motif (ITIM). This motif is involved in modulation of cellular responses. The phosphorylated ITIM motif can bind the SH2 domain of several SH2-containing phosphatases.
  • Belongs to the immunoglobulin superfamily. SIGLEC (sialic acid binding Ig-like lectin) family.
Domain:
  • Contains 2 copies of a cytoplasmic motif that is referred to as the immunoreceptor tyrosine-based inhibitor motif (ITIM). This motif is involved in modulation of cellular responses. The phosphorylated ITIM motif can bind the SH2 domain of several SH2-containing phosphatases.
Family:
  • Belongs to the immunoglobulin superfamily. SIGLEC (sialic acid binding Ig-like lectin) family.
genes like me logo Genes that share domains with CD33: view

Function for CD33 Gene

Molecular function for CD33 Gene

UniProtKB/Swiss-Prot Function:
Sialic-acid-binding immunoglobulin-like lectin (Siglec) that plays a role in mediating cell-cell interactions and in maintaining immune cells in a resting state (PubMed:10611343, PubMed:15597323, PubMed:11320212). Preferentially recognizes and binds alpha-2,3- and more avidly alpha-2,6-linked sialic acid-bearing glycans (PubMed:7718872). Upon engagement of ligands such as C1q or syalylated glycoproteins, two immunoreceptor tyrosine-based inhibitory motifs (ITIMs) located in CD33 cytoplasmic tail are phosphorylated by Src-like kinases such as LCK (PubMed:28325905, PubMed:10887109). These phosphorylations provide docking sites for the recruitment and activation of protein-tyrosine phosphatases PTPN6/SHP-1 and PTPN11/SHP-2 (PubMed:10556798, PubMed:10206955, PubMed:10887109). In turn, these phosphatases regulate downstream pathways through dephosphorylation of signaling molecules (PubMed:10206955, PubMed:10887109). One of the repressive effect of CD33 on monocyte activation requires phosphoinositide 3-kinase/PI3K (PubMed:15597323).
GENATLAS Biochemistry:
cell differentiation antigen CD33-like (gp67),identified by monoclonal antibodies L4F3,My9,H153,L1B1,expressed in immature cells of the myelomonocytic lineage,sialoadhesin family,myeloid specific inhibitory receptor that may regulate FcgammaRI signal transduction,Ig superfamily

Phenotypes From GWAS Catalog for CD33 Gene

Gene Ontology (GO) - Molecular Function for CD33 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 10206955
GO:0019903 protein phosphatase binding IPI 10887109
GO:0030246 carbohydrate binding IEA --
GO:0033691 sialic acid binding IMP 7718872
GO:0038023 signaling receptor activity TAS 10611343
genes like me logo Genes that share ontologies with CD33: view
genes like me logo Genes that share phenotypes with CD33: view

Animal Model Products

miRNA for CD33 Gene

miRTarBase miRNAs that target CD33

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CD33 Gene

Localization for CD33 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CD33 Gene

[Isoform CD33M]: Cell membrane; Single-pass type I membrane protein.
[Isoform CD33m]: Peroxisome. Note=CD33m isoform does not localize to cell surfaces but instead accumulates in peroxisomes. {ECO:0000269 PubMed:28747436}.

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 CD33 gene
Compartment Confidence
plasma membrane 5
peroxisome 5
nucleus 4
golgi apparatus 4
extracellular 3
cytoskeleton 2
mitochondrion 2
endoplasmic reticulum 2
endosome 2
cytosol 2
lysosome 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (3)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CD33 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA --
GO:0005654 nucleoplasm IDA --
GO:0005777 peroxisome IEA --
GO:0005794 Golgi apparatus IDA 21278227
GO:0005886 plasma membrane TAS --
genes like me logo Genes that share ontologies with CD33: view

Pathways & Interactions for CD33 Gene

genes like me logo Genes that share pathways with CD33: view

SIGNOR curated interactions for CD33 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for CD33 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002765 immune response-inhibiting signal transduction IDA 10887109
GO:0007155 cell adhesion NAS 10611343
GO:0007165 signal transduction TAS 10611343
GO:0007267 cell-cell signaling TAS 10611343
GO:0008285 negative regulation of cell proliferation TAS 10611343
genes like me logo Genes that share ontologies with CD33: view

Drugs & Compounds for CD33 Gene

(6) Drugs for CD33 Gene - From: DrugBank, PharmGKB, DGIdb, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Gemtuzumab ozogamicin Approved, Investigational Pharma Target, antibody 0
AVE9633 Investigational Pharma Target 0
Lintuzumab Investigational Pharma 20

(3) Additional Compounds for CD33 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with CD33: view

Transcripts for CD33 Gene

mRNA/cDNA for CD33 Gene

3 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CD33 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b
SP1:
SP2: -
SP3:

Relevant External Links for CD33 Gene

GeneLoc Exon Structure for
CD33

Expression for CD33 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CD33 Gene

mRNA differential expression in normal tissues according to GTEx for CD33 Gene

This gene is overexpressed in Whole Blood (x15.8) and Spleen (x7.6).

Protein differential expression in normal tissues from HIPED for CD33 Gene

This gene is overexpressed in Monocytes (22.9), Peripheral blood mononuclear cells (21.9), and Milk (12.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CD33 Gene



Protein tissue co-expression partners for CD33 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CD33

SOURCE GeneReport for Unigene cluster for CD33 Gene:

Hs.83731

mRNA Expression by UniProt/SwissProt for CD33 Gene:

P20138-CD33_HUMAN
Tissue specificity: Monocytic/myeloid lineage cells. In the brain, CD33 is mainly expressed on microglial cells.

Evidence on tissue expression from TISSUES for CD33 Gene

  • Blood(4.7)
  • Bone marrow(3.6)
  • Spleen(2.9)
  • Lymph node(2.6)
genes like me logo Genes that share expression patterns with CD33: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for CD33 Gene

Orthologs for CD33 Gene

This gene was present in the common ancestor of mammals.

Orthologs for CD33 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CD33 31 30
  • 98.4 (n)
OneToOne
dog
(Canis familiaris)
Mammalia CD33 30
  • 73.12 (n)
-- 31
  • 36 (a)
ManyToMany
cow
(Bos Taurus)
Mammalia LOC508441 30
  • 72.79 (n)
-- 31
  • 55 (a)
ManyToMany
mouse
(Mus musculus)
Mammalia Siglech 31
  • 49 (a)
OneToMany
Cd33 31
  • 40 (a)
OneToMany
Species where no ortholog for CD33 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)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (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 CD33 Gene

ENSEMBL:
Gene Tree for CD33 (if available)
TreeFam:
Gene Tree for CD33 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CD33: view image

Paralogs for CD33 Gene

(9) SIMAP similar genes for CD33 Gene using alignment to 3 proteins:

  • CD33_HUMAN
  • B4DF51_HUMAN
  • Q546G0_HUMAN

Pseudogenes.org Pseudogenes for CD33 Gene

genes like me logo Genes that share paralogs with CD33: view

Variants for CD33 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CD33 Gene

SNP ID Clinical significance and condition Chr 19 pos Variation AA Info Type
715382 Benign: not provided 51,225,373(+) G/C MISSENSE_VARIANT,INTRON_VARIANT
717093 Benign: not provided 51,225,219(+) G/A SYNONYMOUS_VARIANT,INTRON_VARIANT
751980 Likely Benign: not provided 51,225,849(+) C/T SYNONYMOUS_VARIANT
775424 Benign: not provided 51,225,563(+) G/A MISSENSE_VARIANT,INTRON_VARIANT
775425 Benign: not provided 51,225,590(+) A/G MISSENSE_VARIANT,INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for CD33 Gene

Structural Variations from Database of Genomic Variants (DGV) for CD33 Gene

Variant ID Type Subtype PubMed ID
nsv1134806 CNV deletion 24896259
nsv1140251 OTHER inversion 24896259
nsv476420 CNV novel sequence insertion 20440878

Variation tolerance for CD33 Gene

Residual Variation Intolerance Score: 96.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.45; 77.33% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CD33 Gene

Human Gene Mutation Database (HGMD)
CD33
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CD33

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CD33 Gene

Disorders for CD33 Gene

MalaCards: The human disease database

(28) MalaCards diseases for CD33 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
acute leukemia
  • stem cell leukaemia
acute promyelocytic leukemia
  • apl
myeloid leukemia
  • leukemia myelogenous
myelodysplastic syndrome
  • mds
chronic myelomonocytic leukemia
  • leukemia, myelomonocytic, chronic
- elite association - COSMIC cancer census association via MalaCards
Search CD33 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for CD33

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 CD33: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CD33 Gene

Publications for CD33 Gene

  1. A study of CD33 (SIGLEC-3) antigen expression and function on activated human T and NK cells: two isoforms of CD33 are generated by alternative splicing. (PMID: 16380601) Hernández-Caselles T … García-Peñarrubia P (Journal of leukocyte biology 2006) 3 4 23 54
  2. Myeloid specific human CD33 is an inhibitory receptor with differential ITIM function in recruiting the phosphatases SHP-1 and SHP-2. (PMID: 10887109) Paul SP … McVicar DW (Blood 2000) 3 4 23 54
  3. The myeloid-specific sialic acid-binding receptor, CD33, associates with the protein-tyrosine phosphatases, SHP-1 and SHP-2. (PMID: 10206955) Taylor VC … Freeman SD (The Journal of biological chemistry 1999) 3 4 23 54
  4. Engagement of p75/AIRM1 or CD33 inhibits the proliferation of normal or leukemic myeloid cells. (PMID: 10611343) Vitale C … Mingari MC (Proceedings of the National Academy of Sciences of the United States of America 1999) 3 4 23 54
  5. Isolation of a cDNA encoding CD33, a differentiation antigen of myeloid progenitor cells. (PMID: 3139766) Simmons D … Seed B (Journal of immunology (Baltimore, Md. : 1950) 1988) 2 3 4 54

Products for CD33 Gene

Sources for CD33 Gene