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Aliases for CD63 Gene

Aliases for CD63 Gene

  • CD63 Molecule 2 3 5
  • 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
  • TSPAN30 3 4
  • LAMP-3 3 4
  • OMA81H 3 4
  • MLA1 3 4
  • Lysosome-Associated Membrane Glycoprotein 3 3
  • Melanoma-Associated Antigen MLA1 3
  • ME491 3

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 Melanoma. Among its related pathways are Adhesion and Innate Immune System. An important paralog of this gene is TSPAN3.

UniProtKB/Swiss-Prot 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

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CD63 Gene

Genomics for CD63 Gene

Regulatory Elements for CD63 Gene

Enhancers for CD63 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH12G055702 1.4 ENCODE dbSUPER 11.3 +23.1 23058 8.1 HDGF FOXA2 PKNOX1 CREB3L1 ARNT AGO1 ARID4B SIN3A DMAP1 ZNF2 BAZ2A RN7SL809P ITGA7 RPL41 RBMS2 ZC3H10 METTL7B CD63 GDF11 PA2G4
GH12G055757 1 ENCODE 12.9 -28.3 -28316 0.9 HDGF FOXA2 ATF1 ZNF48 YY1 ELK1 ZNF143 ZNF207 SP3 JUNB CD63 SARNP ORMDL2 MMP19 RPS26 RDH5 ENSG00000257509 GDF11
GH12G056593 1.3 Ensembl ENCODE 9.8 -864.6 -864571 1.8 HDGF PKNOX1 CREB3L1 ARNT SIN3A ZNF2 ZNF766 ZNF143 DEK REST BAZ2A ESYT1 GLS2 RBMS2 SPRYD4 APOF STAT2 CD63 NACA PTGES3
GH12G055982 1.1 Ensembl ENCODE 10.7 -253.1 -253069 0.9 PKNOX1 TCF12 ZNF121 CBX5 RELB BCLAF1 IKZF2 SMARCA5 ZBTB2 TBX21 IKZF4 GDF11 CD63 PMEL ERBB3 PA2G4 RPL41 ZC3H10 SARNP ORMDL2
GH12G055756 0.4 FANTOM5 11.9 -26.7 -26737 0.3 NFIC CD63 SARNP ORMDL2 MMP19 RPS26 IKZF4 OR6C6 ENSG00000257509 GDF11
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CD63 on UCSC Golden Path with GeneCards custom track

Promoters for CD63 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000052441 807 3001 HDGF FOXA2 PKNOX1 CREB3L1 ARNT SIN3A ARID4B DMAP1 ZNF2 ZBTB7B

Genomic Location for CD63 Gene

Chromosome:
12
Start:
55,725,323 bp from pter
End:
55,729,707 bp from pter
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 StructureGene Density

RefSeq DNA sequence for CD63 Gene

Proteins for CD63 Gene

  • 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

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).
  • Ubiquitination at posLast=110110
  • Glycosylation at posLast=130130, Asn150, and posLast=172172
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for CD63 (CD63)
  • Abcam antibodies for CD63

No data available for DME Specific Peptides for CD63 Gene

Domains & Families for CD63 Gene

Gene Families for CD63 Gene

Suggested Antigen Peptide Sequences for CD63 Gene

GenScript: Design optimal peptide antigens:

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

Molecular function for CD63 Gene

GENATLAS Biochemistry:
cell differentiation antigen CD63 (melanoma 1 antigen)
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.

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 Model Products

  • Taconic Biosciences Mouse Models for CD63

CRISPR Products

Inhibitory RNA Products

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, 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
lysosome 5
endosome 5
cytoskeleton 2
golgi apparatus 2
endoplasmic reticulum 1
cytosol 1

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:0005764 lysosome IEA --
GO:0005765 lysosomal membrane IDA,TAS 17897319
GO:0005768 endosome IEA --
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

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:0006810 transport IEA --
GO:0007160 cell-matrix adhesion IMP 23632027
GO:0015031 protein transport IEA --
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

(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

Unigene Clusters for CD63 Gene

CD63 molecule:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

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
ECgene alternative splicing isoforms for
CD63

Expression for CD63 Gene

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



Protein tissue co-expression partners for CD63 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CD63 Gene:

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)
  • Blood(4.7)
  • Liver(4.6)
  • Muscle(4.6)
  • Nervous system(4.6)
  • Pancreas(4.5)
  • Intestine(4)
  • Heart(3.6)
  • Kidney(3.4)
  • Spleen(3.4)
  • Eye(3.3)
  • Bone marrow(3.2)
  • Lymph node(3.1)
  • Stomach(2.8)
  • Gall bladder(2.6)
  • Adrenal gland(2.5)
  • Thyroid gland(2.5)
genes like me logo Genes that share expression patterns with CD63: view

Primer Products

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 34 35
  • 99.86 (n)
dog
(Canis familiaris)
Mammalia CD63 34 35
  • 87.39 (n)
cow
(Bos Taurus)
Mammalia CD63 34 35
  • 84.53 (n)
-- 35
  • 64 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Cd63 34 16 35
  • 81.93 (n)
rat
(Rattus norvegicus)
Mammalia Cd63 34
  • 80.39 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 24 (a)
ManyToMany
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 22 (a)
ManyToMany
chicken
(Gallus gallus)
Aves -- 35
  • 17 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia CD63 35
  • 44 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cd63 34
  • 60.76 (n)
Str.8003 34
zebrafish
(Danio rerio)
Actinopterygii cd63 34 35
  • 56.27 (n)
-- 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9569 34
fruit fly
(Drosophila melanogaster)
Insecta Tsp29Fa 34 35
  • 49.93 (n)
Tsp47F 35
  • 29 (a)
OneToMany
Tsp39D 35
  • 28 (a)
OneToMany
Tsp29Fb 35
  • 23 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009651 34
  • 46.7 (n)
worm
(Caenorhabditis elegans)
Secernentea tsp-7 34 35
  • 45.28 (n)
Species where no ortholog for CD63 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 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)
  • wheat (Triticum aestivum)

Evolution for CD63 Gene

ENSEMBL:
Gene Tree for CD63 (if available)
TreeFam:
Gene Tree for CD63 (if available)

Paralogs for CD63 Gene

Variants for CD63 Gene

Sequence variations from dbSNP and Humsavar for CD63 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
rs483352715 Uncertain significance 55,726,202(-) TCGAA(A/G)AACCG reference, synonymous-codon
rs1000274649 -- 55,727,489(+) GGGTA(A/G)GGGGA intron-variant, upstream-variant-2KB
rs1000613765 -- 55,730,534(+) CCAGG(A/G)ACAGA nc-transcript-variant, upstream-variant-2KB
rs1000876538 -- 55,729,350(+) AAGCG(G/T)ACGAG nc-transcript-variant, upstream-variant-2KB, utr-variant-5-prime
rs1000943290 -- 55,730,230(+) TGACC(A/G)TGGCT nc-transcript-variant, upstream-variant-2KB

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)

Relevant External Links for CD63 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CD63

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

Disorders for CD63 Gene

MalaCards: The human disease database

(6) MalaCards diseases for CD63 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
hermansky-pudlak syndrome
  • hps
melanoma
  • malignant melanoma
quebec platelet disorder
  • bdplt5
mast cell disease
  • maculopapular cutaneous mastocytosis
shwartzman phenomenon
  • shwartzman reaction
- elite association - COSMIC cancer census association via MalaCards
Search CD63 in MalaCards View complete list of genes associated with diseases

Relevant External Links for CD63

Human Genome Epidemiology (HuGE) Navigator
CD63
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CD63
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 J.M. (J. Clin. Invest. 1993) 3 4 22 64
  2. An ocular melanoma-associated antigen. Molecular characterization. (PMID: 1339263) Wang M.X. … Donoso L.A. (Arch. Ophthalmol. 1992) 3 4 22 64
  3. TIMP-1 modulates chemotaxis of human neural stem cells through CD63 and integrin signalling. (PMID: 24635319) Lee S.Y. … Lee M.A. (Biochem. J. 2014) 3 4 64
  4. Tetraspanin CD63 promotes vascular endothelial growth factor receptor 2-beta1 integrin complex formation, thereby regulating activation and downstream signaling in endothelial cells in vitro and in vivo. (PMID: 23632027) Tugues S. … Claesson-Welsh L. (J. Biol. Chem. 2013) 3 4 64
  5. The role of ceroid lipofuscinosis neuronal protein 5 (CLN5) in endosomal sorting. (PMID: 22431521) Mamo A. … Lefrancois S. (Mol. Cell. Biol. 2012) 3 4 64

Products for CD63 Gene

  • Addgene plasmids for CD63

Sources for CD63 Gene

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