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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))
Pneumococci & Pneumococcal 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
CD151 Molecule (Raph Blood Group)1 2     RAPH2
CD151 Antigen1 2 3     Hemidesmosomal Tetraspanin CD1512
CD151 Antigen (Raph Blood Group)1 2     Platelet Surface Glycoprotein Gp272
Membrane Glycoprotein SFA-12 3     Platelet-Endothelial Cell Tetraspan Antigen 32
Platelet-Endothelial Tetraspan Antigen 32 3     tetraspanin-242
GP272 3     tspan-242
PETA-32 3     Tetraspanin-243
TSPAN242 3     Tspan-243
MER22 5     PETA35
SFA12 5     

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 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. 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)

GeneCards Summary for CD151 Gene: 
CD151 (CD151 molecule (Raph blood group)) is a protein-coding gene. Diseases associated with CD151 include nephropathy with pretibial epidermolysis bullosa and deafness, and salivary gland cancer, and among its related super-pathways are Collagen formation and Cell-cell junction organization. GO annotations related to this gene include protein binding. An important paralog of this gene is TSPAN1.

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 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_000011.9  NT_009237.18  NC_018922.2  
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 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: 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

Explore proteomics data for CD151 at MOPED 

Post-translational modifications:

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

  • CD151 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    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   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 Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005829cytosol TAS--
    GO:0005886plasma membrane TAS--
    GO:0005887integral to plasma membrane TAS8627808
    GO:0016020membrane TAS8627808
    GO:0016021integral to membrane ----

    CD151 for ontologies           About GeneDecksing



    CD151 Antibody Products: 
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    Abcam antibodies for CD151
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    LSBio Antibodies in human, mouse, rat for CD151 

    Assay Products for CD151: 
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    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
    bloodgroup: Blood group antigens
    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 P48509

    ProtoNet protein and cluster: P48509

    1 Blocks protein domain: IPB000301 Transmembrane four family signature

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


    CD151 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: 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:
         MGI mouse knock-outs for CD151: Cd151tm1Son Cd151tm1Lka Cd151tm1Mhe

       inGenious Targeting Laboratory - Custom generated mouse model solutions for CD151 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for CD151

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CD151 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CD151 

    miRNA
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    SwitchGear 3'UTR luciferase reporter plasmidCD151 3' UTR sequence
    Inhib. RNA
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    Gene Editing
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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, 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 CD151 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Collagen biosynthesis and modifying enzymes
    Collagen formation0.74
    Extracellular matrix organization0.39
    Assembly of collagen fibrils and other multimeric structures0.65
    2Cell-cell junction organization
    Cell junction organization0.69
    Cell-Cell communication0.64
    3Type I hemidesmosome assembly
    Type I hemidesmosome assembly
    4Alpha6-Beta4 Integrin Signaling Pathway
    Alpha6-Beta4 Integrin Signaling Pathway

    Pathways by source                                                                                                                                                                 See SuperPaths
    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): 5/6 biological process terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007155cell adhesion NAS9602068
    GO:0016477cell migration IEA--
    GO:0030198extracellular matrix organization TAS--
    GO:0031581hemidesmosome assembly TAS--
    GO:0034329cell junction assembly TAS--

    CD151 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

    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 inferred 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 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 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
    18/21 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 21):
    ENST00000397420 ENST00000525718 ENST00000530155 ENST00000529810 ENST00000526693
    ENST00000525333 ENST00000525868 ENST00000531999 ENST00000524748 ENST00000527341
    ENST00000526661 ENST00000530726 ENST00000532045 ENST00000528867 ENST00000530320
    ENST00000526439 ENST00000528011 ENST00000532075

    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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    Additional mRNA 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.97793151  DT.100878633  DT.448530  DT.95086275  DT.92456319  DT.101985568  DT.100878646  DT.100878627 
    DT.100822667  DT.100878639  DT.100878623  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):

    BM912519 BM926178 BG678958 BU154282 BQ430247 CB147122 AL047198 BI825135 
    BM708000 BE298829 BX458787 AA375851 BF211631 BG423119 AJ709317 BG678424 
    BM767970 CA454728 BU180877 CN480925 AL548805 BM847312 BU527181 H26199 

    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)      CD151 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGCCTCTGCG
    CD151 Expression
    About this image


    CD151 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/31 selected tissues (see all 31) fully expand
     
     Uterus
             uterus, post-menopause ; glandular cells   
     
     Colon (Gastrointestinal Tract)    fully expand to see all 3 entries
             rectum ; glandular cells   
     
     Epithelium (Reproductive System)    fully expand to see all 3 entries
             cervix, uterine ; squamous epithelial cells   
     
     Endothelium (Cardiovascular System)    fully expand to see all 2 entries
             colon ; endothelial cells   
             blood outgrowth endothelial cell   
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Cerebral Cortex
             optic nerve head astrocytes   

    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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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CD151

    (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 5/12 species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cd1511 , 5 CD151 antigen1, 5 87.09(n)1
    93.68(a)1
      7 (86.82 cM)5
    124761  NM_001111049.11  NP_001104519.11 
     1414673625 
    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
    Uncharacterized protein
    77(a)
    1 ↔ 1
    1(73557975-73602459)
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.76762 Transcribed sequence with weak similarity to protein more 74.95(n)    CF348267.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Tsp47F6
    Tsp29Fa6
    (see all 3)
    Tetraspanin 29Fa
    (see all 3)
    31(a)
    29(a)
    (see all 3)
    many ↔ many
    many ↔ many
    (see all 3)
    2R(7264967-7266682)
    2L(8933964-8936096)


    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  TSPAN62  CD372  TSPAN32  TSPAN92  CD632  TSPAN192  CD532  
    CD822  TSPAN182  TSPAN72  TSPAN112  TSPAN42  ENSG000002503492  
    18/19 SIMAP similar genes for CD151 using alignment to 11 protein entries:     CD151_HUMAN (see all proteins) (see all similar genes):
    TSPAN11    BTCC-1    TSPAN6    TSPAN18    CD53    CD82
    TSPAN9    CD63    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, 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

    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


    10/400 SNPs in CD151 are shown (see all 400)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0211534
    ----see VAR_0211532 R H mis40--------
    rs341659151,2
    C,F--832581(+) AGGCCG/CGCATC 4 -- us2k12Minor allele frequency- C:0.01NS 92
    rs1180593081,2
    C,F--832601(+) GACCCC/TTGCAG 4 -- us2k11Minor allele frequency- T:0.03NA 120
    rs2006146881,2
    --832890(+) CTTGA-/GGCC  
     GGGGCGG
    GGCCG
    4 -- us2k10--------
    rs345142971,2
    C--832903(+) CGGGG-/CCGGGG 4 -- us2k10--------
    rs741943531,2
    C,F--833138(+) CCCAGT/CCCCGG 4 -- int12Minor allele frequency- C:0.00NA 4
    rs1427825991,2
    C--833196(+) CCTGG-/CCCAGCTC
    CCTCGCCTGC
    CCCAG
    4 -- int10--------
    rs2011036921,2
    C--833201(+) CCCAGC/TTCCCT 4 -- int10--------
    rs714540711,2
    C--833219(+) CCCAGT/CTCCCT 4 -- int11Minor allele frequency- C:0.00NA 2
    rs348009141,2
    C--833233(+) TGCCC-/CAGCTCCC
    TCGCCTGCCC
    TTCCG
    8 -- int1 cds11Minor allele frequency- CAGCTCCCTCGCCTGCCC:0.00NA 2

    HapMap Linkage Disequilibrium report for CD151 (832843 - 839831 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/25 variations for CD151 (see all 25):    About this table     
    Variant IDTypeSubtypePubMed ID
    dgv182e199CNV Deletion23128226
    esv1212776CNV Insertion17803354
    nsv832044CNV Loss17160897
    dgv952n71CNV Loss21882294
    dgv951n71CNV Loss21882294
    nsv469923CNV Loss18288195
    dgv946n71CNV Loss21882294
    dgv944n71CNV Loss21882294
    dgv955n71CNV Loss21882294
    dgv921n71CNV Loss21882294


    Human Gene Mutation Database (HGMD): CD151
    Blood Group Antigen Gene Mutation Database (BGMUT) blood group system
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers 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, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 602243   
    OMIM disorders: 609057  179620  
    UniProtKB/Swiss-Prot: CD151_HUMAN, P48509
  • Nephropathy with pretibial epidermolysis bullosa and deafness (NPEBD) [MIM:609057]: A disorder
    characterized by the association of hereditary nephritis, epidermolysis bullosa, deafness, and beta-thalassemia
    minor. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 20/34 diseases for CD151 (see all 34):    About MalaCards
    nephropathy with pretibial epidermolysis bullosa and deafness    salivary gland cancer    merkel cell carcinoma    bullous pemphigoid
    human t-cell leukemia virus type 1    epidermolysis bullosa    beta thalassemia    endotheliitis
    eczema    pancreatic ductal adenocarcinoma    thalassemia    acute myocardial infarction
    gingivitis    t-cell leukemia    acute leukemia    myocardial infarction
    nephritis    prostate cancer    renal cell carcinoma    cholangiocarcinoma


    CD151 for disorders           About GeneDecksing


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

    10 Novoseek inferred 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 149):
    (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
    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: 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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    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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