CD63 Gene (Protein Coding)

CD63 Molecule

GC12M055725
GIFtS:
43
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. The enco... See more...

Aliases for CD63 Gene

Aliases for CD63 Gene

  • CD63 Molecule 2 3 5
  • TSPAN30 2 3 4
  • Lysosomal-Associated Membrane Protein 3 3 4
  • Ocular Melanoma-Associated Antigen 3 4
  • CD63 Antigen (Melanoma 1 Antigen) 2 3
  • Melanoma-Associated Antigen ME491 3 4
  • Tetraspanin-30 3 4
  • Granulophysin 3 4
  • CD63 Antigen 3 4
  • Tspan-30 3 4
  • LAMP-3 3 4
  • OMA81H 3 4
  • ME491 2 3
  • MLA1 3 4
  • Lysosome-Associated Membrane Glycoprotein 3 3
  • Melanoma-Associated Antigen MLA1 3
  • CD63 5

External Ids for CD63 Gene

Previous HGNC Symbols for CD63 Gene

  • MLA1

Previous GeneCards Identifiers for CD63 Gene

  • GC12M056043
  • GC12M056192
  • GC12M055834
  • GC12M054405
  • GC12M056119
  • GC12M053159

Summaries for CD63 Gene

Entrez Gene Summary for CD63 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. The encoded protein is a cell surface glycoprotein that is known to complex with integrins. It may function as a blood platelet activation marker. Deficiency of this protein is associated with Hermansky-Pudlak syndrome. Also this gene has been associated with tumor progression. Alternative splicing results in multiple transcript variants encoding different protein isoforms. [provided by RefSeq, Apr 2012]

GeneCards Summary for CD63 Gene

CD63 (CD63 Molecule) is a Protein Coding gene. Diseases associated with CD63 include Hermansky-Pudlak Syndrome and Storage Pool Platelet Disease. Among its related pathways are Proteoglycans in cancer and Lysosome. An important paralog of this gene is TSPAN33.

UniProtKB/Swiss-Prot Summary for CD63 Gene

  • Functions as cell surface receptor for TIMP1 and plays a role in the activation of cellular signaling cascades. Plays a role in the activation of ITGB1 and integrin signaling, leading to the activation of AKT, FAK/PTK2 and MAP kinases. Promotes cell survival, reorganization of the actin cytoskeleton, cell adhesion, spreading and migration, via its role in the activation of AKT and FAK/PTK2. Plays a role in VEGFA signaling via its role in regulating the internalization of KDR/VEGFR2. Plays a role in intracellular vesicular transport processes, and is required for normal trafficking of the PMEL luminal domain that is essential for the development and maturation of melanocytes. Plays a role in the adhesion of leukocytes onto endothelial cells via its role in the regulation of SELP trafficking. May play a role in mast cell degranulation in response to Ms4a2/FceRI stimulation, but not in mast cell degranulation in response to other stimuli.

Gene Wiki entry for CD63 Gene

Additional gene information for CD63 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CD63 Gene

Genomics for CD63 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for CD63 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
GH12J055722 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 250.7 +2.4 2410 8.6 ZNF654 MYC ZNF600 NCOR1 IKZF1 JUND ZNF580 ZNF592 POLR2A NFIC CD63 CD63-AS1 BAZ2A RN7SL809P STAT2 RDH5 PAN2 CDK2 RPL41 TMEM198B
GH12J055702 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 11.3 +21.3 21260 11.7 JUND ATF2 CEBPA NFIC CEBPB ZNF341 CTCF SIN3A EP300 FOXA2 ITGA7 BLOC1S1 HSALNG0091428 RN7SL809P RPL41 RBMS2 METTL7B BAZ2A CD63 GDF11
GH12J055700 Enhancer 1.1 Ensembl ENCODE dbSUPER 11.2 +28.8 28806 1.4 ZNF600 NFIC ZIC2 ZBTB10 CEBPB ZNF639 ZEB1 MAX ZNF623 SP2 PAN2 ANKRD52 CD63 GDF11 ORMDL2 SARNP MIP lnc-CD63-4 HSALNG0091428 ITGA7
GH12J055982 Enhancer 0.6 ENCODE 10.7 -253.1 -253069 0.9 BCLAF1 SMARCA5 NFE2 SPI1 MYC MAX POLR2A ZMYM3 IKZF1 IKZF2 ENSG00000237493 LOC100131294 IKZF4 GDF11 CD63 PMEL ERBB3 PA2G4 ZC3H10 RPL41
GH12J055757 Enhancer 0.4 ENCODE 13 -28.3 -28316 0.9 ZNF600 ZFP91 POLR2A CD63 SARNP ORMDL2 MMP19 RPS26 RDH5 lnc-CD63-1 KC561773 GDF11 ENSG00000257390
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CD63 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CD63

Top Transcription factor binding sites by QIAGEN in the CD63 gene promoter:
  • c-Ets-1
  • C/EBPbeta
  • GR
  • GR-alpha
  • GR-beta
  • HEN1
  • LyF-1
  • Nkx2-5
  • Sp1

Genomic Locations for CD63 Gene

Latest Assembly
chr12:55,725,323-55,729,707
(GRCh38/hg38)
Size:
4,385 bases
Orientation:
Minus strand

Previous Assembly
chr12:56,119,107-56,123,457
(GRCh37/hg19 by Entrez Gene)
Size:
4,351 bases
Orientation:
Minus strand

chr12:56,119,107-56,123,491
(GRCh37/hg19 by Ensembl)
Size:
4,385 bases
Orientation:
Minus strand

Genomic View for CD63 Gene

Genes around CD63 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CD63 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CD63 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for CD63 Gene

Proteins for CD63 Gene

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  • Protein details for CD63 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P08962-CD63_HUMAN
    Recommended name:
    CD63 antigen
    Protein Accession:
    P08962
    Secondary Accessions:
    • F8VZE2
    • Q5TZP3
    • Q8N6Z9
    • Q9UCG6

    Protein attributes for CD63 Gene

    Size:
    238 amino acids
    Molecular mass:
    25637 Da
    Quaternary structure:
    • Interacts with TIMP1 and ITGB1 and recruits TIMP1 to ITGB1 (PubMed:16917503, PubMed:24635319). Interacts with CD9. Identified in a complex with CD9 and ITGB3 (PubMed:19640571). Interacts with PMEL (PubMed:21962903). Interacts with KDR/VEGFR2; identified in a complex with ITGB1 and KDR/VEGFR2 and is required to recruit KDR to ITGB1 complexes (PubMed:23632027). Interacts with SYT7 (By similarity).
    Miscellaneous:
    • Lack of expression of CD63 in platelets has been observed in a patient with Hermansky-Pudlak syndrome (HPS). Hermansky-Pudlak syndrome (HPS) is a genetically heterogeneous, rare, autosomal recessive disorder characterized by oculocutaneous albinism, bleeding due to platelet storage pool deficiency, and lysosomal storage defects. This syndrome results from defects of diverse cytoplasmic organelles including melanosomes, platelet dense granules and lysosomes. Ceroid storage in the lungs is associated with pulmonary fibrosis, a common cause of premature death in individuals with HPS.
    • This antigen is associated with early stages of melanoma tumor progression.

    Alternative splice isoforms for CD63 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CD63 Gene

Protein Expression for CD63 Gene

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

Post-translational modifications for CD63 Gene

  • Palmitoylated at a low, basal level in unstimulated platelets. The level of palmitoylation increases when platelets are activated by thrombin (in vitro).
  • Glycosylation at Asn130, Asn150, and Asn172
  • Ubiquitination at Lys110 and Lys128
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect

Other Protein References for CD63 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibodies for research

  • Abcam antibodies for CD63

No data available for DME Specific Peptides for CD63 Gene

Domains & Families for CD63 Gene

Gene Families for CD63 Gene

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

Protein Domains for CD63 Gene

InterPro:
Blocks:
  • Transmembrane four family signature

Suggested Antigen Peptide Sequences for CD63 Gene

GenScript: Design optimal peptide antigens:
  • Tetraspanin-30 (CD63_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P08962

UniProtKB/Swiss-Prot:

CD63_HUMAN :
  • Belongs to the tetraspanin (TM4SF) family.
Family:
  • Belongs to the tetraspanin (TM4SF) family.
genes like me logo Genes that share domains with CD63: view

Function for CD63 Gene

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  6. Cell Lines for research

Molecular function for CD63 Gene

UniProtKB/Swiss-Prot Function:
Functions as cell surface receptor for TIMP1 and plays a role in the activation of cellular signaling cascades. Plays a role in the activation of ITGB1 and integrin signaling, leading to the activation of AKT, FAK/PTK2 and MAP kinases. Promotes cell survival, reorganization of the actin cytoskeleton, cell adhesion, spreading and migration, via its role in the activation of AKT and FAK/PTK2. Plays a role in VEGFA signaling via its role in regulating the internalization of KDR/VEGFR2. Plays a role in intracellular vesicular transport processes, and is required for normal trafficking of the PMEL luminal domain that is essential for the development and maturation of melanocytes. Plays a role in the adhesion of leukocytes onto endothelial cells via its role in the regulation of SELP trafficking. May play a role in mast cell degranulation in response to Ms4a2/FceRI stimulation, but not in mast cell degranulation in response to other stimuli.
GENATLAS Biochemistry:
cell differentiation antigen CD63 (melanoma 1 antigen)

Phenotypes From GWAS Catalog for CD63 Gene

Gene Ontology (GO) - Molecular Function for CD63 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 16917503
genes like me logo Genes that share ontologies with CD63: view
genes like me logo Genes that share phenotypes with CD63: view

Animal Models for CD63 Gene

MGI Knock Outs for CD63:

Animal Models for research

  • Taconic Biosciences Mouse Models for CD63

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CD63

Clone products for research

  • Addgene plasmids for CD63

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for CD63 Gene

Localization for CD63 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CD63 Gene

Cell membrane. Multi-pass membrane protein. Lysosome membrane. Multi-pass membrane protein. Late endosome membrane. Multi-pass membrane protein. Endosome, multivesicular body. Melanosome. Secreted, extracellular exosome. Cell surface. Note=Also found in Weibel-Palade bodies of endothelial cells (PubMed:10793155). Located in platelet dense granules (PubMed:7682577). Detected in a subset of pre-melanosomes. Detected on intralumenal vesicles (ILVs) within multivesicular bodies (PubMed:21962903). {ECO:0000269 PubMed:10793155, ECO:0000269 PubMed:21962903, ECO:0000269 PubMed:7682577}.

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 CD63 gene
Compartment Confidence
plasma membrane 5
extracellular 5
endosome 5
lysosome 5
cytoskeleton 3
mitochondrion 2
nucleus 2
endoplasmic reticulum 2
cytosol 2
golgi apparatus 2
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Vesicles (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CD63 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005615 extracellular space IDA 25645918
GO:0005654 nucleoplasm IDA --
GO:0005764 lysosome IEA --
GO:0005765 lysosomal membrane IEA,IDA 22431521
genes like me logo Genes that share ontologies with CD63: view

Pathways & Interactions for CD63 Gene

genes like me logo Genes that share pathways with CD63: view

Pathways by source for CD63 Gene

2 KEGG pathways for CD63 Gene
2 Cell Signaling Technology pathways for CD63 Gene

Gene Ontology (GO) - Biological Process for CD63 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002092 positive regulation of receptor internalization IMP 23632027
GO:0002576 platelet degranulation TAS --
GO:0007160 cell-matrix adhesion IMP 23632027
GO:0015031 protein transport IEA --
GO:0016477 cell migration IMP 23632027
genes like me logo Genes that share ontologies with CD63: view

No data available for SIGNOR curated interactions for CD63 Gene

Drugs & Compounds for CD63 Gene

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  1. Drug products for research

(12) Drugs for CD63 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(11) Additional Compounds for CD63 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with CD63: view

Transcripts for CD63 Gene

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mRNA/cDNA for CD63 Gene

9 REFSEQ mRNAs :
30 NCBI additional mRNA sequence :
16 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CD63

Clone products for research

  • Addgene plasmids for CD63

Alternative Splicing Database (ASD) splice patterns (SP) for CD63 Gene

ExUns: 1 ^ 2a · 2b ^ 3a · 3b · 3c ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8a · 8b ^ 9a · 9b ^ 10a · 10b ^ 11 ^ 12a · 12b · 12c ^ 13a · 13b · 13c · 13d
SP1: - - - - - - -
SP2: - - - - - - - - -
SP3: - - - - -
SP4: - - - - - - - - -
SP5: - - - - -
SP6: - - - -
SP7: - - - -
SP8: - - -
SP9: - -
SP10: -
SP11:

Relevant External Links for CD63 Gene

GeneLoc Exon Structure for
CD63

Expression for CD63 Gene

Products:

  1. Primer products for research
  2. Gene Expression Assays for research

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CD63 Gene

mRNA expression in normal human tissues for CD63 Gene
mRNA expression by GTEx for CD63 GenemRNA expression by BioGPS for CD63 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for CD63 Gene

This gene is overexpressed in Nasal epithelium (17.1), Neutrophil (8.7), and Amniocyte (8.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CD63 Gene



Protein tissue co-expression partners for CD63 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CD63

SOURCE GeneReport for Unigene cluster for CD63 Gene:

Hs.445570

mRNA Expression by UniProt/SwissProt for CD63 Gene:

P08962-CD63_HUMAN
Tissue specificity: Detected in platelets (at protein level). Dysplastic nevi, radial growth phase primary melanomas, hematopoietic cells, tissue macrophages.

Evidence on tissue expression from TISSUES for CD63 Gene

  • Skin(5)
  • Lung(4.9)
  • Nervous system(4.7)
  • Muscle(4.7)
  • Blood(4.7)
  • Liver(4.7)
  • Pancreas(4.7)
  • Intestine(4.2)
  • Heart(3.9)
  • Eye(3.8)
  • Kidney(3.8)
  • Spleen(3.8)
  • Bone marrow(3.6)
  • Lymph node(3.5)
  • Stomach(3.3)
  • Adrenal gland(3.1)
  • Thyroid gland(3)
  • Gall bladder(2.6)
  • Bone(2.6)
  • Urine(2.3)
  • Saliva(2.2)
genes like me logo Genes that share expression patterns with CD63: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for CD63 Gene

Orthologs for CD63 Gene

This gene was present in the common ancestor of animals.

Orthologs for CD63 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia CD63 29 30
  • 99.86 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia CD63 29 30
  • 87.39 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia CD63 29 30
  • 84.53 (n)
 OneToMany
-- 30
  • 64 (a)
 OneToMany
Mouse
(Mus musculus)
 Mammalia Cd63 29 16 30
  • 81.93 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Cd63 29
  • 80.39 (n)
Platypus
(Ornithorhynchus anatinus)
 Mammalia -- 30
  • 24 (a)
 ManyToMany
Oppossum
(Monodelphis domestica)
 Mammalia -- 30
  • 22 (a)
 ManyToMany
Chicken
(Gallus gallus)
 Aves -- 30
  • 17 (a)
 ManyToMany
Lizard
(Anolis carolinensis)
 Reptilia CD63 30
  • 44 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia cd63 29
  • 60.76 (n)
Str.8003 29
Zebrafish
(Danio rerio)
 Actinopterygii cd63 29 30
  • 56.27 (n)
 OneToOne
-- 29
Rainbow Trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.9569 29
Fruit Fly
(Drosophila melanogaster)
 Insecta Tsp29Fa 29 30
  • 49.93 (n)
 OneToMany
Tsp47F 30
  • 29 (a)
 OneToMany
Tsp39D 30
  • 28 (a)
 OneToMany
Tsp29Fb 30
  • 23 (a)
 OneToMany
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP009651 29
  • 46.7 (n)
Worm
(Caenorhabditis elegans)
 Secernentea tsp-7 29 30
  • 45.28 (n)
 OneToOne
Species where no ortholog for CD63 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • 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)
  • 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)
  • Wheat (Triticum aestivum)

Evolution for CD63 Gene

ENSEMBL:
Gene Tree for CD63 (if available)
TreeFam:
Gene Tree for CD63 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CD63: view image
Alliance of Genome Resources:
Additional Orthologs for CD63

Paralogs for CD63 Gene

Paralogs for CD63 Gene

(20) SIMAP similar genes for CD63 Gene using alignment to 7 proteins:

  • CD63_HUMAN
  • C9JV86_HUMAN
  • F8VNT9_HUMAN
  • F8VV56_HUMAN
  • F8VWK8_HUMAN
  • F8VX62_HUMAN
  • F8W022_HUMAN
genes like me logo Genes that share paralogs with CD63: view

Variants for CD63 Gene

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  1. SNP Genotyping and Copy Number Assays for research

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CD63 Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
rs13020 Benign: not provided 55,726,739(-) G/A
NM_001257389.1(CD63):c.387C>T (p.Asn129=) 		SYNONYMOUS
rs2231466 Benign: not provided 55,726,691(-) C/G
NM_001257389.1(CD63):c.426+9G>C 		INTRON
rs483352715 Uncertain Significance: not provided 55,726,202(-) C/T
NM_001780.5(CD63):c.486G>A (p.Lys162=) 		SYNONYMOUS

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for CD63 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for CD63 Gene

Variant ID Type Subtype PubMed ID
dgv2646n54 CNV loss 21841781
dgv2647n54 CNV loss 21841781
nsv469410 CNV loss 19166990
nsv525231 CNV loss 19592680
nsv559004 CNV loss 21841781
nsv559005 CNV loss 21841781
nsv832423 CNV gain 17160897

Variation tolerance for CD63 Gene

Residual Variation Intolerance Score: 42.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.68; 32.06% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CD63 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CD63
Leiden Open Variation Database (LOVD)
CD63

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CD63 Gene

Disorders for CD63 Gene

MalaCards: The human disease database

(35) MalaCards diseases for CD63 Gene - From: COP and GCD

Disorder Aliases PubMed IDs
hermansky-pudlak syndrome
  • albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells
storage pool platelet disease
  • platelet storage pool deficiency
pollen allergy
  • hay fever
diclofenac allergy
  • voltaren allergy
ocular melanoma
  • eye melanoma
- elite association - COSMIC cancer census association via MalaCards
Search CD63 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for CD63

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with CD63: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CD63 Gene

Publications for CD63 Gene

  1. The protein CD63 is in platelet dense granules, is deficient in a patient with Hermansky-Pudlak syndrome, and appears identical to granulophysin. (PMID: 7682577) Nishibori M … Gerrard JM (The Journal of clinical investigation 1993) 3 4 22
  2. An ocular melanoma-associated antigen. Molecular characterization. (PMID: 1339263) Wang MX … Donoso LA (Archives of ophthalmology (Chicago, Ill. : 1960) 1992) 3 4 22
  3. TIMP-1 modulates chemotaxis of human neural stem cells through CD63 and integrin signalling. (PMID: 24635319) Lee SY … Lee MA (The Biochemical journal 2014) 3 4
  4. Tetraspanin CD63 promotes vascular endothelial growth factor receptor 2-β1 integrin complex formation, thereby regulating activation and downstream signaling in endothelial cells in vitro and in vivo. (PMID: 23632027) Tugues S … Claesson-Welsh L (The Journal of biological chemistry 2013) 3 4
  5. Syndecan-syntenin-ALIX regulates the biogenesis of exosomes. (PMID: 22660413) Baietti MF … David G (Nature cell biology 2012) 3 4

ExternalLinks

View latest publications for CD63 gene in Mastermind

Products for CD63 Gene

  • Addgene plasmids for CD63

Sources for CD63 Gene