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

CD151 Gene

protein-coding   GIFtS: 63
GCID: GC11P000835

CD151 molecule (Raph blood group)

(Previous names: CD151 antigen, CD151 antigen (Raph blood group) )
 Explore 37 diseases affiliated with
CD151 via our new
 Human Malady Compendium 
Biological research products
for CD151
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
CD151 Molecule (Raph Blood Group)1 2     SFA12 5
PETA-31 2 3     SFA-11
TSPAN241 2 3     Hemidesmosomal Tetraspanin CD1512
CD151 Antigen1 2 3     Platelet Surface Glycoprotein Gp272
RAPH1 2     Platelet-Endothelial Cell Tetraspan Antigen 32
CD151 Antigen (Raph Blood Group)1 2     Tetraspanin-243
Membrane Glycoprotein SFA-12 3     Tspan-243
Platelet-Endothelial Tetraspan Antigen 32 3     Tetraspanin-243
GP272 3     Tspan-243
MER22 5     PETA35

External Ids:    HGNC: 16301   Entrez Gene: 9772   Ensembl: ENSG000001776977   OMIM: 6022435   UniProtKB: P485093   

Export aliases for CD151 gene to outside databases

Previous GC identifers: GC11U990020 GC11M000672 GC11M000359 GC11P000824 GC11P000822 GC11P000648


(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 CD151:
The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family.
Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains.
The proteins mediate signal transduction events that play a role in the regulation of cell development, activation,
growth and motility. This encoded protein is a cell surface glycoprotein that is known to complex with integrins and
other transmembrane 4 superfamily proteins. It is involved in cellular processes including cell adhesion and may
regulate integrin trafficking and/or function. This protein enhances cell motility, invasion and metastasis of cancer
cells. Multiple alternatively spliced transcript variants that encode the same protein have been described for this
gene. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: CD151_HUMAN, P48509
Function: Essential for the proper assembly of the glomerular and tubular basement membranes in kidney

Gene Wiki entry for CD151


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000011.9  NC_018922.1  NT_009237.18  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CD151 gene promoter:
         STAT1   MyoD   STAT1beta   AP-4   AP-2gamma   Egr-4   STAT1alpha   POU2F1   POU2F1a   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for CD151

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CD151


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

Entrez Gene cytogenetic band: 11p15.5   Ensembl cytogenetic band:  11p15.5   HGNC cytogenetic band: 11p15.5

CD151 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CD151 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11P000835:  view genomic region     (about GC identifiers)

Start:
832,843 bp from pter      End:
839,831 bp from pter
Size:
6,989 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: CD151_HUMAN, P48509 (See protein sequence)
Recommended Name: CD151 antigen  
Size: 253 amino acids; 28295 Da
Subunit: Interacts with integrins alpha3beta1, alpha5beta1, alpha3beta1 and alpha6beta4, with CD9 and CD181
Subcellular location: Membrane; Multi-pass membrane protein
Secondary accessions: A8KAK8 E9PI15 Q14826 Q86U54 Q96TE3

Explore the universe of human proteins at neXtProt for CD151: NX_P48509

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P48509

  • CD151 Protein expression data from MOPED and PaxDb:    About this image 
    CD151 Protein Expression
    REFSEQ proteins (4 alternative transcripts): 
    NP_001034579.1  NP_004348.2  NP_620598.1  NP_620599.1  

    ENSEMBL proteins: 
     ENSP00000380565   ENSP00000435854   ENSP00000432258   ENSP00000431439   ENSP00000435054  
     ENSP00000431671   ENSP00000431403   ENSP00000436591   ENSP00000432385   ENSP00000433752  
     ENSP00000433787   ENSP00000434663   ENSP00000432990   ENSP00000324101   ENSP00000380566  
    Reactome Protein details: P48509
    Human Recombinant Protein Products for CD151: 
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    Novus Biologicals CD151 Proteins
    Novus Biologicals CD151 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for CD151

    Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005624membrane fraction ----
    GO:0005829cytosol TAS--
    GO:0005886plasma membrane NAS9602068
    GO:0005887integral to plasma membrane TAS8627808
    GO:0016020membrane TAS8627808

    CD151 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for CD151


    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    CD151 for domains           About GeneDecksing

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

    Graphical View of Domain Structure for InterPro Entry P48509

    ProtoNet protein and cluster: P48509

    1 Blocks protein family: IPB000301 Transmembrane four family signature

    UniProtKB/Swiss-Prot: CD151_HUMAN, P48509
    Similarity: Belongs to the tetraspanin (TM4SF) family


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

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CD151_HUMAN, P48509
    Function: Essential for the proper assembly of the glomerular and tubular basement membranes in kidney
    Induction: By HTLV-1

         Genatlas biochemistry entry for CD151:
    cell differentiation antigen CD151,expressed in platelets

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI14676841
         
    CD151 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for CD151:
     Increased gamma-H2AX phosphory 

         11 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Cd151):
     cardiovascular system  cellular  growth/size  hearing/vestibular/ear  hematopoietic system 
     homeostasis/metabolism  immune system  integument  mortality/aging  renal/urinary system 
     tumorigenesis 

    CD151 for phenotypes           About GeneDecksing

    Animal Models:
         Mouse knock-outs for CD151: Cd151tm1Son Cd151tm1Lka Cd151tm1Mhe
       inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for CD151 

    miRNA
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    hsa-miR-124 hsa-miR-222* hsa-miR-199b-3p hsa-miR-127-5p hsa-miR-199a-3p hsa-miR-506 hsa-miR-3129-5p
    SwitchGear 3'UTR luciferase reporter plasmidCD151 3' UTR sequence
    Inhib. RNA
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CD151


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Collagen formation
    Collagen formation1.00
    Extracellular matrix organization0.54
    Assembly of collagen fibrils and other multimeric structures0.65
    2Cell-cell junction organization
    Cell junction organization0.69
    Cell-Cell communication0.45
    3Type I hemidesmosome assembly
    Type I hemidesmosome assembly1.00
    4Alpha6-Beta4 Integrin Signaling Pathway
    Alpha6-Beta4 Integrin Signaling Pathway1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    1 BioSystems Pathway for CD151 
        Alpha6-Beta4 Integrin Signaling Pathway

    5/6        Reactome Pathways for CD151 (see all 6)
        Extracellular matrix organization
    Assembly of collagen fibrils and other multimeric structures
    Type I hemidesmosome assembly
    Cell junction organization
    Cell-Cell communication



    CD151 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for CD151

    STRING Interaction Network Preview (showing 5 interactants - click image to see 14)

    5/14 Interacting proteins for CD151 (P485093 ENSP000003241014) via UniProtKB, MINT, STRING, and/or I2D (see all 14)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MMP7P092373, ENSP000002602274I2D: score=2 STRING: ENSP00000260227
    PTGFRNQ9P2B23, ENSP000003768994I2D: score=2 STRING: ENSP00000376899
    RNF128Q8TEB73, ENSP000002554994I2D: score=2 STRING: ENSP00000255499
    CD46P155293, ENSP000003138754I2D: score=1 STRING: ENSP00000313875
    CD82P277013, ENSP000002271554I2D: score=1 STRING: ENSP00000227155
    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:0007155cell adhesion NAS9602068
    GO:0016477cell migration IEA--
    GO:0031581hemidesmosome assembly TAS--
    GO:0034329cell junction assembly TAS--
    GO:0042098T cell proliferation IEA--

    CD151 for ontologies           About GeneDecksing



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

    CD151 for compounds           About GeneDecksing

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

    Browse Tocris compounds for CD151
    3 Novoseek chemical compound relationships for CD151 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    matrigel 32.3 1 11809818 (1)
    cysteine 0.304 4 9294006 (1), 11907260 (1)
    fibrinogen 0 1 12526922 (1)

    Search CenterWatch for drugs/clinical trials and news about CD151 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for CD151 gene (4 alternative transcripts): 
    NM_001039490.1  NM_004357.4  NM_139029.1  NM_139030.3  

    Unigene Cluster for CD151:

    CD151 molecule (Raph blood group)
    Hs.654379  [show with all ESTs]
    Unigene Representative Sequence: AK130369
    18/22 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 22):
    ENST00000397420 ENST00000525718 ENST00000530155 ENST00000529810 ENST00000528143
    ENST00000526693 ENST00000525333 ENST00000525868 ENST00000531999 ENST00000524748
    ENST00000527341 ENST00000526661 ENST00000530726 ENST00000532045 ENST00000528867
    ENST00000530320 ENST00000526439 ENST00000528011

    miRNA
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    7 QIAGEN miScript miRNA Assays for microRNAs that regulate CD151:
    hsa-miR-124 hsa-miR-222* hsa-miR-199b-3p hsa-miR-127-5p hsa-miR-199a-3p hsa-miR-506 hsa-miR-3129-5p
    SwitchGear 3'UTR luciferase reporter plasmidCD151 3' UTR sequence
    Inhib. RNA
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    OriGene shRNA RFP: CD151
    OriGene siRNA: CD151
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    Sirion Biotech Custom design and validation of potent shRNA sequences against CD151 
    Clone
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    Additional cDNA sequence: 

    AK130369.1 AK223186.1 AK293073.1 BC001374.2 BC013302.2 BT007397.1 BT020132.1 CR456826.1 
    CR542098.1 D29963.1 U14650.1 

    24/33 DOTS entries (see all 33):

    DT.100878633  DT.97793151  DT.448530  DT.100878646  DT.92456319  DT.95086275  DT.101985568  DT.100878627 
    DT.100822667  DT.100878623  DT.100878639  DT.100878625  DT.100878621  DT.100759951  DT.100878645  DT.100878624 
    DT.100878642  DT.97860586  DT.92456317  DT.100878629  DT.97856227  DT.100756846  DT.100878634  DT.100878640 

    24/371 AceView cDNA sequences (see all 371):

    AL548805 BG678424 AL047198 BF211631 BM847312 BI825135 BU527181 CB147122 
    BM912519 BQ430247 CB125197 BQ421786 BE298829 BQ878016 AL541513 BI755054 
    AL547696 BU180877 BM767970 BG423119 AJ709317 BG675900 BU196811 CA454728 

    GeneLoc Exon Structure

    5/22 Alternative Splicing Database (ASD) splice patterns (SP) for CD151 (see all 22)    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3a · 3b · 3c · 3d ^ 4a · 4b ^ 5 ^ 6 ^ 7a · 7b · 7c · 7d · 7e ^ 8 ^ 9a · 9b · 9c ^ 10a · 10b ^ 11a · 11b ^
    SP1:                          -     -           -     -     -     -     -                       -     -     -           -                                       
    SP2:                                            -     -     -     -     -                       -     -     -           -                                       
    SP3:                          -     -           -     -     -     -     -                       -     -     -           -                                       
    SP4:                          -     -     -     -     -     -     -     -                       -     -     -           -                                       
    SP5:                          -     -           -     -     -     -     -                                               -                                       

    ExUns: 12a · 12b · 12c · 12d · 12e ^ 13
    SP1:                                    
    SP2:                          -         
    SP3:                                    
    SP4:                                    
    SP5:                                    


    ECgene alternative splicing isoforms for CD151

    (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

    CD151 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TGCCTCTGCG
    CD151 Expression
    About this image
    See CD151 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CD151

    SOURCE GeneReport for Unigene cluster: Hs.654379

    UniProtKB/Swiss-Prot: CD151_HUMAN, P48509
    Tissue specificity: Expressed in a variety of tissues including vascular endothelium and epidermis. Expressed on
    erythroid cells, with a higher level of expression in erythroid precursors than on mature erythrocytes

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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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for CD151 gene from 5/19 species (see all 19)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves CD1511 CD151 molecule (Raph blood group) 75(n)
    78.97(a)
      423105  NM_001006472.1  NP_001006472.1 
    lizard
    (Anolis carolinensis)
    Reptilia CD1516
    --
    77(a)
    1 ↔ 1
    1(73557975-73581986)
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.76762 Transcribed sequence with weak similarity to protein more 74.95(n)    CF348267.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Tsp74F6
    Tsp86D6
    (see all 3)
    Tetraspanin 86D
    (see all 3)
    30(a)
    23(a)
    (see all 3)
    1 ↔ many
    possible ortholog
    (see all 3)
    3L(17884920-17888962)
    3R(6694435-6696277)
    worm
    (Caenorhabditis elegans)
    Secernentea tsp-86
    tsp-96
    TetraSPanin family member (tsp-9)
    22(a)
    21(a)
    possible ortholog
    possible ortholog
    X(14726556-14729412)
    X(1246012-1247494)


    ENSEMBL Gene Tree for CD151 (if available)
    TreeFam Gene Tree for CD151 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for CD151 gene
    TSPAN12  CD372  TSPAN62  TSPAN92  TSPAN32  CD632  CD532  CD822  
    TSPAN182  TSPAN72  TSPAN42  TSPAN112  ENSG000002503492  TSPAN82  
    18/20 SIMAP similar genes for CD151 using alignment to 12 protein entries:     CD151_HUMAN (see all proteins) (see all similar genes):
    TSPAN11    BTCC-1    TSPAN6    TSPAN18    CD63    CD53
    CD82    TSPAN9    TSPAN3    CD9    TSPAN4    TSPAN5
    TM4SF2    TSPAN8    TSPAN7    TM4SF9    TSPAN10    TSPAN33

    CD151 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    UniProtKB/Swiss-Prot: CD151_HUMAN, P48509
    Polymorphism: CD151 defines the MER2=RAPH1 antigen of the RAPH blood group system. 92% of Caucasians are MER2-positive
    and 8% are apparently MER2-negative


    10/352 NCBI SNPs in CD151 are shown (see all 352    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1402286521,2
    --831055(+) TGGGCA/GGGCCC 5 -- int1 us2k10--------
    rs71142181,2
    C,F,A--831122(-) CTTGAA/GATGGG 5 -- us2k1 int113Minor allele frequency- G:0.30MN NS NA WA CSA EA 559
    rs2017363581,2
    --831183(+) CCCCAA/CGGAGC 5 -- us2k1 int10--------
    rs1913183311,2
    --831205(+) CGGGTC/GACCAC 5 -- int1 us2k10--------
    rs122226001,2
    H--831311(+) GCTCAG/CGCCCG 5 -- us2k1 int14Minor allele frequency- C:0.00NS EA 418
    rs348895101,2
    C,F--831316(+) GGCCCG/CAGAGG 5 -- int1 us2k15Minor allele frequency- C:0.03NS NA WA 216
    rs2010820851,2
    --831335(+) TCAGCG/TGAGCT 5 -- int1 us2k10--------
    rs1498185401,2
    --831361(+) CCCCAA/GCATTC 5 -- int1 us2k10--------
    rs1838130461,2
    --831376(+) CTGCCA/GCTCTA 5 -- us2k1 int10--------
    rs356410241,2
    C,F--831388(+) TCCATT/GGGAAG 5 -- us2k1 int15Minor allele frequency- G:0.04NS NA WA 216

    HapMap Linkage Disequilibrium report for CD151 (832843 - 839831 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 6 variations for CD151
         6 CNVs: 29886 30530 3831 29883 29885 4726
    Human Gene Mutation Database (HGMD): CD151
    Blood Group Antigen Gene Mutation Database (BGMUT) blood group system

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing CD151
    DNA2.0 Custom Variant and Variant Library Synthesis for CD151

    (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.)
    About This Section

    CD151 for disorders           About GeneDecksing

    OMIM gene information: 602243   
    OMIM disorders: 609057  179620  
    UniProtKB/Swiss-Prot: CD151_HUMAN, P48509
  • Defects in CD151 are the cause of nephropathy with pretibial epidermolysis bullosa and deafness (NPEBD)
  • [MIM:609057]. NPEBD is characterized by the association of hereditary nephritis, epidermolysis bullosa, deafness, and
    beta-thalassemia minor

    20/37 diseases for CD151 (see all 37):    About MalaCards
    nephropathy with pretibial epidermolysis bullosa and deafness    human t-cell leukemia virus type 1    epidermolysis bullosa    salivary gland cancer
    beta thalassemia    bullous pemphigoid    myocardial infarction    acute myocardial infarction
    merkel cell carcinoma    thalassemia    pancreatic ductal adenocarcinoma    megakaryoblastic leukemia
    renal cell carcinoma    squamous cell carcinoma    t-cell leukemia    eczema
    hepatitis c    leukemia    nephropathy    prostate cancer

    10 Novoseek disease relationships for CD151 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    metastasis 35.8 10 11751509 (2), 19073968 (2), 15533898 (1), 10447000 (1) (see all 5)
    tumors 18.2 35 11751509 (3), 19509057 (2), 16571677 (2), 19531562 (2) (see all 10)
    cancer 3.66 14 19073968 (4), 15533898 (2), 19159612 (1), 11751509 (1)
    carcinoma 0.231 4 19509057 (1), 16571677 (1), 17632541 (1)
    leukemia 0 1 7632941 (1)
    carcinoma squamous cell 0 1 15930335 (1)
    cancer lung 0 3 11751509 (2), 12569360 (1)
    nsclc 0 1 11751509 (1)
    prostate cancer 0 5 15533898 (4)
    melanoma 0 8 16476329 (3), 16798740 (3)


    Export disorders for CD151 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 CD151 gene, integrated from 9 sources (see all 142):
    (articles sorted by number of sources associating them with CD151)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular cloning of cDNA encoding a novel platelet-endothelial cell tetra-span antigen, PETA-3. (PubMed id 7632941)1, 2, 9 Fitter S.... Ashman L.K. (1995)
    2. Palmitoylation of tetraspanin proteins: modulation of CD151 lateral interactions, subcellular distribution, and integrin-dependent cell morphology. (PubMed id 11907260)1, 2, 9 Yang X....Hemler M.E. (2002)
    3. Genomic organization, amplification, fine mapping, and intragenic polymorphisms of the human hemidesmosomal tetraspanin CD151 gene. (PubMed id 11181065)1, 2, 9 Whittock N.V. and McLean W.H.I. (2001)
    4. CD151, the first member of the tetraspanin (TM4) superfamily detected on erythrocytes, is essential for the correct assembly of human basement membranes in kidney and skin. (PubMed id 15265795)1, 2 Karamatic Crew V.... Anstee D.J. (2004)
    5. 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)
    6. Assignment of SFA-1 (PETA-3), a member of the transmembrane 4 superfamily, to human chromosome 11p15.5 by fluorescence in situ hybridization. (PubMed id 9070943)1, 3 Hasegawa H....Fujita S. (1997)
    7. SFA-1, a novel cellular gene induced by human T-cell leukemia virus type 1, is a member of the transmembrane 4 superfamily. (PubMed id 8627808)1, 2 Hasegawa H.... Fujita S. (1996)
    8. Homophilic interactions of Tetraspanin CD151 up-regulate motility and matrix metalloproteinase-9 expression of human melanoma cells through adhesion-dependent c-Jun activation signaling pathways. (PubMed id 16798740)1, 9 Hong I.K....Lee H. (2006)
    9. CD151 dynamics in carcinoma-stroma interaction: integrin expression, adhesion strength and proteolytic activity. (PubMed id 17632541)1, 9 Hasegawa M....Kimura S. (2007)
    10. Characterisation of the mouse homologue of CD151 (PETA-3/SFA-1); genomic structure, chromosomal localisation and identification of 2 novel splice forms. (PubMed id 9602068)1, 9 Fitter S....Ashman L.K. (1998)

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

      Query String
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      (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: 977 HGNC: 1630 AceView: CD151 Ensembl:ENSG00000177697 euGenes: HUgn977
    ECgene: CD151 H-InvDB: CD151

    (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 CD151 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for CD151 Genetics and Cytogenetics in Oncology and Haematology
    dbRBC/BGMUThttp://www.ncbi.nlm.nih.gov/gv/mhc/xslcgi.cgi?cmd=bgmut/systems_info&system=raph
    SeattleSNPshttp://pga.gs.washington.edu/data/cd151/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for CD151 gene:
    Search GeneIP for patents involving CD151

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



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