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CD63 Gene

protein-coding   GIFtS: 65
GCID: GC12M056119

CD63 Molecule

(Previous name: CD63 antigen (melanoma 1 antigen))
(Previous symbol: MLA1)
  See CD63-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)
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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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 melanoma. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000012.11  NC_018923.2  NT_029419.13  
Regulatory elements:
   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 Chromatin IP Primers for CD63

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: CD63_HUMAN, P08962 (See protein sequence)
Recommended Name: CD63 antigen  
Size: 238 amino acids; 25637 Da
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: 

  • Ubiquitination2 at Lys110, Lys128
  • Glycosylation2 at Asn130, Asn150, Asn172
  • Modification sites at PhosphoSitePlus

  • See CD63 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    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

    CD63 Human Recombinant Protein Products:

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    Novus Biologicals CD63 Lysates
    Sino Biological Recombinant Protein for CD63
    Sino Biological Cell Lysate for CD63
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    Browse Proteins at Cloud-Clone Corp.

     
    Search eBioscience for Proteins for CD63 

    CD63 Antibody Products:

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    CD63 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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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.
    Search eBioscience for ELISAs for CD63 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    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


    Find genes that share domains with CD63           About GenesLikeMe


    (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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI16917503
         
    Find genes that share ontologies with CD63           About GenesLikeMe


    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 

    Find genes that share phenotypes with CD63           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Cd63tm1Psa for CD63

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CD63
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models 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

    miRNA
    Products:
        
    miRTarBase miRNAs that target CD63:
    hsa-mir-3943 (MIRT052897), hsa-mir-1 (MIRT023517)

    Block miRNA regulation of human, mouse, rat CD63 using miScript Target Protectors
    2 qRT-PCR Assays for microRNAs that regulate CD63:
    hsa-miR-548d-3p hsa-miR-490-3p
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat CD63

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector (see all 2): CD63 (NM_001780)
    Sino Biological Human cDNA Clone for CD63
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CD63

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CD63


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    CD63_HUMAN, P08962: 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
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endosome5
    lysosome5
    plasma membrane5
    vacuole5
    cytoskeleton2
    extracellular2
    golgi apparatus2
    endoplasmic reticulum1

    Gene Ontology (GO): Selected cellular component terms (see all 11):    About this table

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

    Find genes that share ontologies with CD63           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for CD63 About    
    See pathways by source

    SuperPathContained pathways About
    1Response to elevated platelet cytosolic Ca2+
    Response to elevated platelet cytosolic Ca2+0.94
    Platelet degranulation0.94
    2Hemostasis
    Hemostasis0.43
    Platelet activation, signaling and aggregation0.43
    3Selected targets of ESR1
    Selected targets of ESR1
    4Proteoglycans in cancer
    Proteoglycans in cancer
    5Lysosome
    Lysosome


    Find genes that share SuperPaths with CD63           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    1 Reactome Pathway for CD63
        Platelet degranulation


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

        Pathway & Disease-focused RT2 Profiler PCR Array including CD63: 
              Cell Surface Markers in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for CD63

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

    Selected Interacting proteins for CD63 (P089621, 2, 3 ENSP000002578574) via UniProtKB, MINT, STRING, and/or I2D (see all 66)
    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:    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

    Find genes that share ontologies with CD63           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for CD63

    Selected 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)



    Find genes that share compounds with CD63           About GenesLikeMe



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    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
    miRNA
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    2 qRT-PCR Assays for microRNAs that regulate CD63:
    hsa-miR-548d-3p hsa-miR-490-3p
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    Primer
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      QuantiTect SYBR Green Assays in human, mouse, rat CD63
      QuantiFast Probe-based Assays in human, mouse, rat CD63

    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 

    Selected 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 

    Selected AceView cDNA sequences (see all 1311):

    AA478004 BQ689550 BQ288020 BQ883591 BQ888429 BF314980 AA372334 BQ711869 
    BI495175 BQ636847 BF448876 BP342033 CF130620 AF508304 BE896177 BU177843 
    BQ682623 CA412951 CD243339 BU859022 AA983266 BE544117 BE304635 BQ677064 

    GeneLoc Exon Structure

    Selected 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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    CD63 expression in normal human tissues (normalized intensities)
    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
     selected tissues (see all 25) fully expand
     
     Bone (Muscoskeletal System)    fully expand to see all 6 entries
             Endochondral Preosteoblasts Zeugopod Perichondrium
             Bone Marrow
     
     Mesenchymal Stem Cells
             Chorionic Mesenchymal Stromal Cells Chorionic Villus
     
     Placenta (Extraembryonic Tissues)
             Chorionic Mesenchymal Stromal Cells Chorionic Villus
     
     Chorion (Extraembryonic Tissues)
             Chorionic Mesenchymal Stromal Cells Chorionic Villus
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Cerebral Cortex
    CD63 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CD63 Protein Expression

    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

        Pathway & Disease-focused RT2 Profiler PCR Array including CD63: 
              Cell Surface Markers in human mouse rat

    Primer
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    In Situ
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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)
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    This gene was present in the common ancestor of animals.

    Orthologs for CD63 gene from Selected species (see all 16)    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 
    chicken
    (Gallus gallus)
    Aves --
    Uncharacterized protein
    17(a)
    many ↔ many
    Z(70159050-70159861)
    lizard
    (Anolis carolinensis)
    Reptilia CD636
    CD63 molecule
    44(a)
    1 ↔ 1
    GL343198.1(1866155-1918460)
    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 49.93(n)
    33.48(a)
      34211  NM_001169444.1  NP_001162915.1 
    worm
    (Caenorhabditis elegans)
    Secernentea tsp-71 tsp-7 45.28(n)
    34.51(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)
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    Paralogs for CD63 gene
    CD1512  TSPAN52  TSPAN102  TSPAN172  TSPAN332  TSPAN62  TSPAN32  TSPAN152  
    TSPAN72  TSPAN142  TSPAN112  ENSG000002503492  
    Selected 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

    Find genes that share paralogs with CD63           About GenesLikeMe



    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for CD63 (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

    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 155740    OMIM disorders: --

    2 diseases for CD63:    
    About MalaCards
    platelet storage pool deficiency    melanoma

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

    Find genes that share disorders with CD63           About GenesLikeMe

    Selected 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)
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    PubMed articles for CD63 gene, integrated from 10 sources (see all 343):
    (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. (J. Clin. Invest. 1993)
    2. An ocular melanoma-associated antigen. Molecular characterization. (PubMed id 1339263)1, 2, 9 Wang M.X.... Donoso L.A. (Arch. Ophthalmol. 1992)
    3. Integral and associated lysosomal membrane proteins. (PubMed id 17897319)1, 2 Schroeder B.... Hasilik A. (Traffic 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. (Genome Res. 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. (Nat. Biotechnol. 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. (Biochem. Biophys. Res. Commun. 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. (J. Biol. Chem. 1991)
    8. Characterization of three abundant mRNAs from human ovarian granulosa cells. (PubMed id 2171551)1, 2 Rapp G....Scheit K.H. (DNA Cell Biol. 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. (Cancer Res. 1988)
    10. Isolation and amino terminal sequencing of a novel melanoma- associated antigen. (PubMed id 4062294)1, 2 Ross A.H.... Koprowski H. (Arch. Biochem. Biophys. 1985)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 967 HGNC: 1692 AceView: CD63 Ensembl:ENSG00000135404 euGenes: HUgn967
    ECgene: CD63 Kegg: 967 H-InvDB: CD63

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    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.)
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    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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    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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