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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

CD63 Gene

protein-coding   GIFtS: 65
GCID: GC12M056119

CD63 Molecule

(Previous name: CD63 antigen (melanoma 1 antigen))
(Previous symbol: MLA1)
Microbiology & Infectious Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
CD63 Molecule1 2     ME4912
MLA11 2 3 5     granulophysin2
CD63 Antigen (Melanoma 1 Antigen)1 2     Lysosome-Associated Membrane Glycoprotein 32
Lysosomal-Associated Membrane Protein 32 3     Melanoma-Associated Antigen MLA12
Melanoma-Associated Antigen ME4912 3     tetraspanin-302
Ocular Melanoma-Associated Antigen2 3     tspan-302
LAMP-32 3     Granulophysin3
OMA81H2 3     Tetraspanin-303
TSPAN302 3     Tspan-303
CD63 Antigen2 3     

External Ids:    HGNC: 16921   Entrez Gene: 9672   Ensembl: ENSG000001354047   OMIM: 1557405   UniProtKB: P089623   

Export aliases for CD63 gene to outside databases

Previous GC identifers: GC12M056043 GC12M056192 GC12M055834 GC12M054405 GC12M053159


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 platelet storage pool deficiency, and ocular melanoma, and among its related super-pathways are Response to elevated platelet cytosolic Ca2+ and Hemostasis. An important paralog of this gene is CD151.

UniProtKB/Swiss-Prot: CD63_HUMAN, P08962
Function: This antigen is associated with early stages of melanoma tumor progression. May play a role in growth
regulation

Gene Wiki entry for CD63 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000012.11  NT_029419.12  NC_018923.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CD63 gene promoter:
         GR   C/EBPbeta   Sp1   GR-beta   Nkx2-5   c-Ets-1   HEN1   GR-alpha   LyF-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCD63 promoter sequence
   Search SABiosciences Chromatin IP Primers for CD63

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CD63


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 12q12-q13   Ensembl cytogenetic band:  12q13.2   HGNC cytogenetic band: 12q12-q13

CD63 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CD63 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12M056119:  view genomic region     (about GC identifiers)

Start:
56,119,107 bp from pter      End:
56,123,491 bp from pter
Size:
4,385 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: CD63_HUMAN, P08962 (See protein sequence)
Recommended Name: CD63 antigen  
Size: 238 amino acids; 25637 Da
Subcellular location: Cell membrane; Multi-pass membrane protein. Lysosome membrane; Multi-pass membrane protein.
Late endosome membrane; Multi-pass membrane protein. Note=Also found in Weibel-Palade bodies of endothelial
cells. Located in platelet dense granules
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
Secondary accessions: F8VZE2 Q5TZP3 Q8N6Z9 Q9UCG6
Alternative splicing: 3 isoforms:  P08962-1   P08962-2   P08962-3   (Gene prediction based on EST data)

Explore the universe of human proteins at neXtProt for CD63: NX_P08962

Explore proteomics data for CD63 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P08962

  • CD63 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    CD63 Protein Expression
    REFSEQ proteins (8 alternative transcripts): 
    NP_001244318.1  NP_001244319.1  NP_001244320.1  NP_001244321.1  NP_001244329.1  NP_001244330.1  NP_001254627.1  NP_001771.1  

    ENSEMBL proteins: 
     ENSP00000447938   ENSP00000449684   ENSP00000449654   ENSP00000447356   ENSP00000449337  
     ENSP00000447730   ENSP00000257857   ENSP00000449435   ENSP00000446807   ENSP00000448091  
     ENSP00000449281   ENSP00000446752   ENSP00000450191   ENSP00000393502  
    Reactome Protein details: P08962
    Human Recombinant Protein Products for CD63: 
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    OriGene Protein Over-expression Lysate for CD63
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    Novus Biologicals CD63 Lysates
    Sino Biological Recombinant Protein for CD63
    Sino Biological Cell Lysate for CD63 
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 5/10 cellular component terms (GO ID links to tree view) (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005764lysosome ----
    GO:0005765lysosomal membrane IDA17897319
    GO:0005770late endosome ----
    GO:0005886plasma membrane TAS--
    GO:0005887integral to plasma membrane TAS1993697

    CD63 for ontologies           About GeneDecksing



    CD63 Antibody Products: 
    EMD Millipore Mono- and Polyclonal Antibodies for the study of CD63
    R&D Systems Antibodies for CD63
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    Novus Biologicals CD63 Antibodies
    Abcam antibodies for CD63
    Browse Antibodies at Cloud-Clone Corp. 
    ThermoFisher Antibody for CD63
    LSBio Antibodies in human, mouse, rat for CD63 

    Assay Products for CD63: 
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    GenScript Custom Assay Services for CD63
    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp. 
    Browse CLIAs at Cloud-Clone Corp.


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    CD: CD molecules
    TSPAN: Tetraspanins

    4 InterPro protein domains:
     IPR018499 Tetraspanin/Peripherin
     IPR000301 Tetraspanin
     IPR008952 Tetraspanin_EC2
     IPR018503 Tetraspanin_CS

    Graphical View of Domain Structure for InterPro Entry P08962

    ProtoNet protein and cluster: P08962

    1 Blocks protein domain: IPB000301 Transmembrane four family signature

    UniProtKB/Swiss-Prot: CD63_HUMAN, P08962
    Similarity: Belongs to the tetraspanin (TM4SF) family


    CD63 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CD63_HUMAN, P08962
    Function: This antigen is associated with early stages of melanoma tumor progression. May play a role in growth
    regulation

         Genatlas biochemistry entry for CD63:
    cell differentiation antigen CD63 (melanoma 1 antigen)

         Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI16917503
         
    CD63 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for CD63:
     Upregulation of Wnt/beta-caten 

         4 MGI mutant phenotypes (inferred from 1 allele(MGI details for Cd63):
     behavior/neurological  digestive/alimentary  homeostasis/metabolism  renal/urinary system 

    CD63 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Cd63tm1Psa for CD63

       inGenious Targeting Laboratory - Custom generated mouse model solutions for CD63 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for CD63

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CD63 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CD63 

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    hsa-miR-548d-3p hsa-miR-490-3p
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    Inhib. RNA
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    Sino Biological Human cDNA Clone for CD63
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CD63


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for CD63 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Platelet degranulation
    Platelet degranulation 0.94
    Response to elevated platelet cytosolic Ca2+0.94
    2Platelet activation, signaling and aggregation
    Platelet activation, signaling and aggregation0.43
    Hemostasis0.43
    3Selected targets of ESR1
    Selected targets of ESR1
    4Proteoglycans in cancer
    Proteoglycans in cancer
    5Lysosome
    Lysosome

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for CD63
        Selected targets of ESR1



    4        Reactome Pathways for CD63
        Hemostasis
    Platelet degranulation
    Platelet activation, signaling and aggregation
    Response to elevated platelet cytosolic Ca2+


    2         Kegg Pathways  (Kegg details for CD63):
        Lysosome
    Proteoglycans in cancer


    CD63 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for CD63

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/63 Interacting proteins for CD63 (P089622, 3 ENSP000002578574) via UniProtKB, MINT, STRING, and/or I2D (see all 63)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PTGFRNQ9P2B22, 3, ENSP000003768994MINT-8407185 I2D: score=2 STRING: ENSP00000376899
    ENSG00000239329P280683, ENSP000003936464I2D: score=2 STRING: ENSP00000393646
    ENSG00000242092P280683, ENSP000003787234I2D: score=2 STRING: ENSP00000378723
    ENSG00000206308P019033, ENSP000003727464I2D: score=3 STRING: ENSP00000372746
    HLA-DRAP019033, ENSP000003787864I2D: score=3 STRING: ENSP00000378786
    About this table

    Gene Ontology (GO): 5 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002576platelet degranulation TAS--
    GO:0007596blood coagulation TAS--
    GO:0030168platelet activation TAS--
    GO:0034613cellular protein localization IDA15647390
    GO:2000680regulation of rubidium ion transport IDA15647390

    CD63 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    CD63 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for CD63

    10/23 Novoseek inferred chemical compound relationships for CD63 gene (see all 23)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    mdmp 75.2 1 15668187 (1)
    pdmp 69.7 3 15203718 (1), 14679788 (1), 15668187 (1)
    adp 60.3 18 7519037 (3), 7684475 (1), 8062509 (1), 18217151 (1) (see all 11)
    fibrinogen 52.1 22 8062509 (2), 8115992 (2), 8560414 (2), 7519037 (2) (see all 14)
    mannose 6-phosphate 47.8 3 19888988 (1), 11764278 (1), 17959629 (1)
    thromboxane a2 40.2 1 8928869 (1)
    rantes 38.7 10 12010805 (4), 15668187 (2), 15829999 (1), 12361207 (1)
    clopidogrel 19.2 2 18217151 (1), 12637702 (1)
    epinephrine 18.1 2 12637702 (1), 17549300 (1)
    aspirin 17.1 3 12695747 (2), 12637702 (1)

    Search CenterWatch for drugs/clinical trials and news about CD63

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for CD63 gene (9 alternative transcripts): 
    NM_001257389.1  NM_001257390.1  NM_001257391.1  NM_001257392.1  NM_001257400.1  NM_001257401.1  NM_001267698.1  NM_001780.5  
    NM_001040034.1  

    Unigene Cluster for CD63:

    CD63 molecule
    Hs.445570  [show with all ESTs]
    Unigene Representative Sequence: BM809097
    16 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000548898 ENST00000548117 ENST00000552067 ENST00000548160 ENST00000546939
    ENST00000552692(uc009znz.3) ENST00000549117 ENST00000257857(uc001shn.3 uc001sho.3)
    ENST00000550050 ENST00000552754 ENST00000550776 ENST00000555199 ENST00000552164
    ENST00000551173 ENST00000546457 ENST00000420846
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    Additional mRNA sequence: 

    AF508304.1 AK311893.1 BC002349.2 BC013017.2 BT007073.1 BT020137.1 BT020138.1 CR542096.1 
    M58485.1 M59907.1 S93788.1 X07982.1 

    24/45 DOTS entries (see all 45):

    DT.100045710  DT.92464516  DT.92464504  DT.97806488  DT.97838247  DT.100703308  DT.92464535  DT.100892203 
    DT.95133114  DT.100892222  DT.100892200  DT.100892213  DT.92464537  DT.100045720  DT.100892216  DT.95133186 
    DT.121147407  DT.95069045  DT.97864758  DT.100034582  DT.101965775  DT.114899  DT.91941712  DT.97864484 

    24/1311 AceView cDNA sequences (see all 1311):

    BM762635 AA121623 CR598829 CR602841 BQ677885 AF508304 BU160334 BF338855 
    BM919790 BM784701 BU557353 AA320686 BE349515 AW572512 BM928781 AA373241 
    BE872920 AI420392 CK905018 BQ709285 AA605231 CF130620 BI754430 BQ723236 

    GeneLoc Exon Structure

    5/11 Alternative Splicing Database (ASD) splice patterns (SP) for CD63 (see all 11)    About this scheme

    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:                                      -     -           -     -                 -                                                                     


    ECgene alternative splicing isoforms for CD63

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    CD63 expression in normal human tissues (normalized intensities)      CD63 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TCGAAGAACC
    CD63 Expression
    About this image


    CD63 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/7 selected tissues (see all 7) fully expand
     
     Brain (Nervous System)    fully expand to see all 9 entries
             Thalamus
             Olfactory Bulb   
     
     Bone (Muscoskeletal System)    fully expand to see all 8 entries
             Endochondral Preosteoblasts Zeugopod Perichondrium
     
     Inner Cell Mass (Early Embryonic Tissues)
             Inner Cell Mass Cells Inner Cell Mass
     
     Chorion (Extraembryonic Tissues)
             Chorionic Mesenchymal Stromal Cells Chorionic Villus
     
     Limb (Muscoskeletal System)
             Bone Marrow Stromal Cells Pelvic Girdle

    See CD63 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CD63

    SOURCE GeneReport for Unigene cluster: Hs.445570

    UniProtKB/Swiss-Prot: CD63_HUMAN, P08962
    Tissue specificity: Dysplastic nevi, radial growth phase primary melanomas, hematopoietic cells, tissue
    macrophages

        SABiosciences Expression via Pathway-Focused PCR Array including CD63: 
              Cell Surface Markers in human mouse rat

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for CD63 gene from 6/13 species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cd631 , 5 CD63 antigen1, 5 81.93(n)1
    79.41(a)1
      10 (77.19 cM)5
    125121  NM_001042580.11  NP_001036045.11 
     1289089195 
    lizard
    (Anolis carolinensis)
    Reptilia CD636
    --
    --
    44(a)
    25(a)
    1 ↔ 1
    possible ortholog
    GL343198.1(1866155-1918460)
    1(78947021-78957427)
    African clawed frog
    (Xenopus laevis)
    Amphibia BC054957.12   -- 78.17(n)    BC054957.1 
    zebrafish
    (Danio rerio)
    Actinopterygii BC064300.12   -- 68.96(n)   321461  BC064300.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Tsp29Fa1 Tetraspanin 29Fa 50.37(n)
    33.78(a)
      34211  NM_001169444.1  NP_001162915.1 
    worm
    (Caenorhabditis elegans)
    Secernentea tsp-71 Protein TSP-7 45.55(n)
    35.29(a)
      192062  NM_060235.1  NP_492636.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for CD63 gene
    CD1512  TSPAN12  TSPAN62  CD372  TSPAN32  TSPAN92  TSPAN192  CD532  
    CD822  TSPAN182  TSPAN72  TSPAN112  TSPAN42  ENSG000002503492  
    18/20 SIMAP similar genes for CD63 using alignment to 7 protein entries:     CD63_HUMAN (see all proteins) (see all similar genes):
    CD151    BTCC-1    TSPAN7    TM4SF2    CD9    TSPAN11
    TSPAN4    TSPAN9    TSPAN33    TSPAN3    TSPAN6    TSPAN2
    TSPAN18    TM4SF9    TSPAN5    TSPAN8    TSPAN14    TSPAN17

    CD63 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/141 SNPs in CD63 are shown (see all 141)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs2011290231,2
    --53159366(+) GCTGCC/TGGAAG 16 Q R mis10--------
    rs2003932791,2
    C--53159367(+) CTGCCA/GGAAGT 16 R W mis10--------
    rs1443358151,2
    F--53159390(+) CTGACA/GTCACC 16 T M mis11Minor allele frequency- G:0.00NA 4552
    rs1120678621,2
    C--53159397(+) CACCTG/TAGAGT 8 -- int10--------
    rs22314641,2
    C,F,H--53159404(-) CCTCCG/ATACTC 8 -- int17Minor allele frequency- A:0.03NS EA CSA NA EU 1853
    rs1995446581,2
    --53159421(+) GTTGCA/GGTCAG 8 -- int10--------
    rs1392809231,2
    C--53159459(+) GCTGAA/GGCAGG 8 -- int10--------
    rs1487812861,2
    C,F--53159555(+) AGAAAG/CATGGC 16 /I /M mis11Minor allele frequency- C:0.00NA 4552
    rs7722581,2
    C,F,O,A,H--53159583(-) TGACTT/CCTGTC 8 -- int113Minor allele frequency- C:0.04NS EA NA CSA WA EU 1754
    rs1432284191,2
    --53159624(+) TTTGG-/CCACAG 8 -- int10--------

    HapMap Linkage Disequilibrium report for CD63 (56119107 - 56123491 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for CD63:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv469410CNV Loss19166990
    nsv525231CNV Loss19592680
    nsv832423CNV Gain17160897

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 155740    OMIM disorders: --

    20/44 diseases for CD63 (see all 44):    About MalaCards
    platelet storage pool deficiency    ocular melanoma    hermansky-pudlak syndrome    melanoma
    von willebrand's disease    arteriosclerosis obliterans    head injury    arteriosclerosis
    oculocutaneous albinism    diphtheria    merkel cell carcinoma    antiphospholipid syndrome
    albinism    mastocytosis    urticaria    eclampsia
    pre-eclampsia    tuberculosis    sinusitis    acute myocardial infarction

    4 diseases from the University of Copenhagen DISEASES database for CD63:
    Hypersensitivity reaction type I disease     Hermansky-Pudlak syndrome     Urticaria     Melanoma

    CD63 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    The International Symposium on Pneumococci and Pneumococcal Diseases (ISPPD) 9 - 13 March 2014

    10/23 Novoseek inferred disease relationships for CD63 gene (see all 23)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    hermansky-pudlak syndrome 78.4 5 7682577 (2), 1515640 (1)
    platelet storage pool deficiency 68.3 1 1515640 (1)
    melanoma 49.1 48 8630057 (6), 9120293 (5), 12740908 (2), 12150730 (2) (see all 20)
    metastatic melanoma 18.7 1 8219756 (1)
    von willebrand disease 17.5 1 10203098 (1)
    metastasis 15.5 6 15375577 (2), 12480921 (1), 12740908 (1), 7665237 (1)
    preeclampsia 11.5 5 8062509 (2), 15118653 (2)
    niddm 7.73 1 16093733 (1)
    tumors 6.05 10 9120293 (2), 10515601 (1), 16475205 (1), 12150730 (1) (see all 7)
    diphtheria 5.72 1 11235900 (1)

    Human Genome Epidemiology (HuGE) Navigator: CD63 (3 documents)

    Export disorders for CD63 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for CD63 gene, integrated from 9 sources (see all 341):
    (articles sorted by number of sources associating them with CD63)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The protein CD63 is in platelet dense granules, is deficient in a patient with Hermansky-Pudlak syndrome, and appears identical to granulophysin. (PubMed id 7682577)1, 2, 9 Nishibori M.... Gerrard J.M. (1993)
    2. An ocular melanoma-associated antigen. Molecular characterization. (PubMed id 1339263)1, 2, 9 Wang M.X.... Donoso L.A. (1992)
    3. Integral and associated lysosomal membrane proteins. (PubMed id 17897319)1, 2 Schroeder B.... Hasilik A. (2007)
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    5. Identification and quantification of N-linked glycoproteins using hydrazide chemistry, stable isotope labeling and mass spectrometry. (PubMed id 12754519)1, 2 Zhang H.... Aebersold R. (2003)
    6. Genomic structure of the ME491/CD63 antigen gene and functional analysis of the 5'-flanking regulatory sequences. (PubMed id 1599482)1, 2 Hotta H.... Homma M. (1992)
    7. CD63 antigen. A novel lysosomal membrane glycoprotein, cloned by a screening procedure for intracellular antigens in eukaryotic cells. (PubMed id 1993697)1, 2 Metzelaar M.J.... Clevers H.C. (1991)
    8. Characterization of three abundant mRNAs from human ovarian granulosa cells. (PubMed id 2171551)1, 2 Rapp G....Scheit K.H. (1990)
    9. Molecular cloning and characterization of an antigen associated with early stages of melanoma tumor progression. (PubMed id 3365686)1, 2 Hotta H.... Koprowski H. (1988)
    10. Isolation and amino terminal sequencing of a novel melanoma- associated antigen. (PubMed id 4062294)1, 2 Ross A.H.... Koprowski H. (1985)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 967 HGNC: 1692 AceView: CD63 Ensembl:ENSG00000135404 euGenes: HUgn967
    ECgene: CD63 Kegg: 967 H-InvDB: CD63

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for CD63 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for CD63 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for CD63 gene:
    Search GeneIP for patents involving CD63

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    About This Section

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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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