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Aliases for CD53 Gene

Aliases for CD53 Gene

  • CD53 Molecule 2 3 5
  • CD53 Antigen 2 3 4
  • Cell Surface Glycoprotein CD53 3 4
  • Tetraspanin-25 3 4
  • Tspan-25 3 4
  • TSPAN25 3 4
  • MOX44 3 4
  • Antigen MOX44 Identified By Monoclonal Antibody MRC-OX44 3
  • Leukocyte Surface Antigen CD53 3
  • Transmembrane Glycoprotein 3
  • CD53 Tetraspan Antigen 3
  • Cell Surface Antigen 3
  • CD53 Glycoprotein 3

External Ids for CD53 Gene

Previous HGNC Symbols for CD53 Gene

  • MOX44

Previous GeneCards Identifiers for CD53 Gene

  • GC01P111831
  • GC01P110282
  • GC01P110516
  • GC01P110714
  • GC01P111127
  • GC01P111413
  • GC01P109285

Summaries for CD53 Gene

Entrez Gene Summary for CD53 Gene

  • The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein that is known to complex with integrins. It contributes to the transduction of CD2-generated signals in T cells and natural killer cells and has been suggested to play a role in growth regulation. Familial deficiency of this gene has been linked to an immunodeficiency associated with recurrent infectious diseases caused by bacteria, fungi and viruses. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]

GeneCards Summary for CD53 Gene

CD53 (CD53 Molecule) is a Protein Coding gene. Diseases associated with CD53 include Intestinal Tuberculosis and Gastrointestinal Tuberculosis. Among its related pathways are Innate Immune System. An important paralog of this gene is TSPAN9.

UniProtKB/Swiss-Prot for CD53 Gene

  • Required for efficient formation of myofibers in regenerating muscle at the level of cell fusion. May be involved in growth regulation in hematopoietic cells (By similarity).

Gene Wiki entry for CD53 Gene

Additional gene information for CD53 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CD53 Gene

Genomics for CD53 Gene

GeneHancer (GH) Regulatory Elements for CD53 Gene

Promoters and enhancers for CD53 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
GH01J110870 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 671.1 +5.8 5776 12.9 HDGF PKNOX1 SMAD1 ARNT IRF4 POLR2B ZNF766 CBX5 E2F8 ZNF207 CD53 DRAM2 KCNA3 LRIF1 ENSG00000261654
GH01J111189 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 10.9 +326.9 326901 16.6 HDGF PKNOX1 FOXA2 SMAD1 IRF4 ZNF766 ZNF207 ZNF143 FOS CEBPZ DENND2D PIR46223 DRAM2 CEPT1 CHI3L2 DDX20 CD53 ENSG00000243960 LRIF1 RAP1A
GH01J110630 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 15.4 -235.4 -235415 10.4 HDGF SMAD1 BATF IRF4 RAD21 SCRT2 ZNF143 ATF7 KLF7 FOS CD53 KCNA3 KCNA2 KCNA10 LINC02586 LRIF1 RBM15 ENSG00000259834
GH01J110646 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 10.7 -223.4 -223396 3.6 FEZF1 ZNF2 ZNF213 ATF7 FOS RUNX3 SP3 JUNB REST TSHZ1 ENSG00000258634 NRBF2P3 ENSG00000235005 HIGD1AP12 KCNA3 STRIP1 CD53 ENSG00000243960 LRIF1 ENSG00000259834
GH01J110421 Enhancer 1.3 FANTOM5 Ensembl ENCODE 10.2 -449.8 -449775 0.4 HDAC1 ATF1 ZNF766 FOS ATF7 MEF2D SMARCA4 KDM1A PRDM4 MEIS2 GC01M110420 PROK1 CD53 RBM15-AS1 RBM15 LINC02586 KCNC4 KCNA10 LAMTOR5-AS1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around CD53 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CD53 gene promoter:

Genomic Locations for CD53 Gene

Genomic Locations for CD53 Gene
chr1:110,871,199-110,899,936
(GRCh38/hg38)
Size:
28,738 bases
Orientation:
Plus strand
chr1:111,413,821-111,442,558
(GRCh37/hg19)

Genomic View for CD53 Gene

Genes around CD53 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CD53 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CD53 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CD53 Gene

Proteins for CD53 Gene

  • Protein details for CD53 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P19397-CD53_HUMAN
    Recommended name:
    Leukocyte surface antigen CD53
    Protein Accession:
    P19397
    Secondary Accessions:
    • B2R905
    • Q5U0D6

    Protein attributes for CD53 Gene

    Size:
    219 amino acids
    Molecular mass:
    24341 Da
    Quaternary structure:
    • Interacts with SCIMP.

neXtProt entry for CD53 Gene

Post-translational modifications for CD53 Gene

  • Glycosylation at Asn148 and posLast=129129
  • Modification sites at PhosphoSitePlus

Other Protein References for CD53 Gene

Antibody Products

No data available for DME Specific Peptides for CD53 Gene

Domains & Families for CD53 Gene

Gene Families for CD53 Gene

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

Suggested Antigen Peptide Sequences for CD53 Gene

Graphical View of Domain Structure for InterPro Entry

P19397

UniProtKB/Swiss-Prot:

CD53_HUMAN :
  • Belongs to the tetraspanin (TM4SF) family.
Family:
  • Belongs to the tetraspanin (TM4SF) family.
genes like me logo Genes that share domains with CD53: view

Function for CD53 Gene

Molecular function for CD53 Gene

UniProtKB/Swiss-Prot Function:
Required for efficient formation of myofibers in regenerating muscle at the level of cell fusion. May be involved in growth regulation in hematopoietic cells (By similarity).
GENATLAS Biochemistry:
cell differentiation antigen 53,32-40kDa,single chain glycoprotein,identified by monoclonal antibodies H129,H136,MEM-53,HD77,see MOX44

Phenotypes From GWAS Catalog for CD53 Gene

Gene Ontology (GO) - Molecular Function for CD53 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 21930792
genes like me logo Genes that share ontologies with CD53: view
genes like me logo Genes that share phenotypes with CD53: view

Animal Models for CD53 Gene

MGI Knock Outs for CD53:
  • Cd53 Cd53<tm1.1Nmg>

Animal Model Products

CRISPR Products

miRNA for CD53 Gene

miRTarBase miRNAs that target CD53

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CD53

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for CD53 Gene

Localization for CD53 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CD53 Gene

Cell membrane. Cell junction. Membrane; Multi-pass membrane protein. Note=Concentrates in localized microdomains along the plasma membrane at the contact sites between cells of fused myotubes. {ECO:0000250}.

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 CD53 gene
Compartment Confidence
plasma membrane 5
extracellular 5
endosome 1

Gene Ontology (GO) - Cellular Components for CD53 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001772 immunological synapse IDA 21930792
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane IBA --
GO:0005911 cell-cell junction ISS,IEA --
GO:0009986 cell surface IEA --
genes like me logo Genes that share ontologies with CD53: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CD53 Gene

Pathways & Interactions for CD53 Gene

genes like me logo Genes that share pathways with CD53: view

Pathways by source for CD53 Gene

3 Reactome pathways for CD53 Gene

Gene Ontology (GO) - Biological Process for CD53 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007165 signal transduction NAS 8404042
GO:0007166 cell surface receptor signaling pathway IBA --
GO:0043312 neutrophil degranulation TAS --
GO:1901741 positive regulation of myoblast fusion IEA,ISS --
genes like me logo Genes that share ontologies with CD53: view

No data available for SIGNOR curated interactions for CD53 Gene

Drugs & Compounds for CD53 Gene

No Compound Related Data Available

Transcripts for CD53 Gene

Unigene Clusters for CD53 Gene

CD53 molecule:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CD53

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CD53 Gene

ExUns: 1 ^ 2a · 2b · 2c · 2d ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b · 6c ^ 7a · 7b ^ 8 ^ 9a · 9b ^ 10a · 10b · 10c
SP1: - - - - -
SP2: - - - -
SP3: - - - - -
SP4: - - - - - - - - - - -
SP5: - - -
SP6: - - - - -
SP7: - - - - -
SP8: - -
SP9:
SP10:

Relevant External Links for CD53 Gene

GeneLoc Exon Structure for
CD53
ECgene alternative splicing isoforms for
CD53

Expression for CD53 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CD53 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CD53 Gene

This gene is overexpressed in Whole Blood (x28.6) and Spleen (x4.0).

Protein differential expression in normal tissues from HIPED for CD53 Gene

This gene is overexpressed in Lymph node (20.6), Neutrophil (9.3), Monocytes (8.9), and Peripheral blood mononuclear cells (7.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CD53 Gene



Protein tissue co-expression partners for CD53 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CD53 Gene:

CD53

SOURCE GeneReport for Unigene cluster for CD53 Gene:

Hs.443057

mRNA Expression by UniProt/SwissProt for CD53 Gene:

P19397-CD53_HUMAN
Tissue specificity: B-cells, monocytes, macrophages, neutrophils, single (CD4 or CD8) positive thymocytes and peripheral T-cells.

Evidence on tissue expression from TISSUES for CD53 Gene

  • Spleen(4.5)
  • Blood(3.2)
  • Lymph node(2.8)
  • Intestine(2.3)
  • Bone marrow(2.2)
genes like me logo Genes that share expression patterns with CD53: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for CD53 Gene

Orthologs for CD53 Gene

This gene was present in the common ancestor of animals.

Orthologs for CD53 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CD53 34 33
  • 99.85 (n)
OneToOne
dog
(Canis familiaris)
Mammalia CD53 34 33
  • 87.6 (n)
OneToOne
cow
(Bos Taurus)
Mammalia CD53 34 33
  • 87.52 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Cd53 16 34 33
  • 82.95 (n)
rat
(Rattus norvegicus)
Mammalia Cd53 33
  • 82.5 (n)
oppossum
(Monodelphis domestica)
Mammalia CD53 34
  • 74 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CD53 34
  • 67 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 30 (a)
ManyToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100496085 33
  • 59.72 (n)
zebrafish
(Danio rerio)
Actinopterygii zgc:64051 33
  • 51.9 (n)
CD53 34
  • 40 (a)
OneToOne
-- 33
fruit fly
(Drosophila melanogaster)
Insecta Tsp5D 34
  • 19 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea tsp-8 34
  • 24 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 26 (a)
OneToMany
Species where no ortholog for CD53 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)
  • wheat (Triticum aestivum)

Evolution for CD53 Gene

ENSEMBL:
Gene Tree for CD53 (if available)
TreeFam:
Gene Tree for CD53 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CD53: view image

Paralogs for CD53 Gene

(15) SIMAP similar genes for CD53 Gene using alignment to 2 proteins:

  • CD53_HUMAN
  • B4DQB5_HUMAN

Pseudogenes.org Pseudogenes for CD53 Gene

genes like me logo Genes that share paralogs with CD53: view

Variants for CD53 Gene

Sequence variations from dbSNP and Humsavar for CD53 Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1000275003 -- 110,889,414(+) C/G intron_variant
rs1000281431 -- 110,895,876(+) C/T intron_variant
rs1000289726 -- 110,896,238(+) T/A intron_variant
rs1000575800 -- 110,883,176(+) T/C intron_variant
rs1000610857 -- 110,890,679(+) G/A intron_variant

Structural Variations from Database of Genomic Variants (DGV) for CD53 Gene

Variant ID Type Subtype PubMed ID
esv3894023 CNV loss 25118596
nsv522939 CNV loss 19592680
nsv831037 CNV gain 17160897

Variation tolerance for CD53 Gene

Residual Variation Intolerance Score: 35.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.64; 13.64% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CD53 Gene

Human Gene Mutation Database (HGMD)
CD53
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CD53

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CD53 Gene

Disorders for CD53 Gene

MalaCards: The human disease database

(2) MalaCards diseases for CD53 Gene - From: HGMD and DISEASES

Disorder Aliases PubMed IDs
intestinal tuberculosis
  • tuberculosis of intestine
gastrointestinal tuberculosis
  • tuberculosis of gastrointestinal tract
- elite association - COSMIC cancer census association via MalaCards
Search CD53 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for CD53

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 CD53: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CD53 Gene

Publications for CD53 Gene

  1. Genomic structure of the human CD53 gene. (PMID: 8319976) Korínek V … Horejsí V (Immunogenetics 1993) 2 3 22 58
  2. The human leucocyte surface antigen CD53 is a protein structurally similar to the CD37 and MRC OX-44 antigens. (PMID: 1700763) Angelisová P … Horejsí V (Immunogenetics 1990) 3 4 22 58
  3. Genome-wide association study does not reveal major genetic determinants for anti-cytomegalovirus antibody response. (PMID: 21993531) Kuparinen T … Hurme M (Genes and immunity 2012) 3 44 58
  4. SCIMP, a transmembrane adaptor protein involved in major histocompatibility complex class II signaling. (PMID: 21930792) Draber P … Brdicka T (Molecular and cellular biology 2011) 3 4 58
  5. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 44 58

Products for CD53 Gene

Sources for CD53 Gene

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