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Aliases for CD151 Gene

Aliases for CD151 Gene

  • CD151 Molecule (Raph Blood Group) 2 3 5
  • CD151 Antigen 2 3 4
  • Platelet-Endothelial Tetraspan Antigen 3 3 4
  • CD151 Antigen (Raph Blood Group) 2 3
  • Membrane Glycoprotein SFA-1 3 4
  • Tetraspanin-24 3 4
  • Tspan-24 3 4
  • TSPAN24 3 4
  • PETA-3 3 4
  • GP27 3 4
  • Platelet-Endothelial Cell Tetraspan Antigen 3 3
  • Platelet Surface Glycoprotein Gp27 3
  • Hemidesmosomal Tetraspanin CD151 3
  • MER2 3
  • RAPH 3
  • SFA1 3

External Ids for CD151 Gene

Previous GeneCards Identifiers for CD151 Gene

  • GC11U990020
  • GC11M000672
  • GC11M000359
  • GC11P000824
  • GC11P000822
  • GC11P000648

Summaries for CD151 Gene

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 Raph Blood Group System. Among its related pathways are Primary Focal Segmental Glomerulosclerosis FSGS and Collagen chain trimerization. Gene Ontology (GO) annotations related to this gene include integrin binding. An important paralog of this gene is TSPAN11.

UniProtKB/Swiss-Prot for CD151 Gene

  • Essential for the proper assembly of the glomerular and tubular basement membranes in kidney.

  • (Microbial infection) Plays a role in human papillomavirus 16/HPV-16 endocytosis upon binding to cell surface receptor.

Gene Wiki entry for CD151 Gene

Additional gene information for CD151 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CD151 Gene

Genomics for CD151 Gene

GeneHancer (GH) Regulatory Elements for CD151 Gene

Promoters and enhancers for CD151 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH11I000831 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 613.1 +0.5 532 4.5 HDGF PKNOX1 SIN3A DMAP1 ZNF48 GLIS2 E2F8 KLF7 FOS ATF7 CD151 ENSG00000255108 SNORA52 TMEM80 TSPAN4 BET1L ENSG00000255237 PHRF1 PIDD1 RPLP2
GH11I000830 Enhancer 0.8 ENCODE dbSUPER 550.8 -1.9 -1917 0.2 TFAP4 RNF2 DMAP1 ZNF48 ZGPAT POLR2A MXD3 ZBTB33 EZH2 CD151 ENSG00000255108 CRACR2B PIR51142
GH11I000839 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 50.7 +10.9 10938 7.6 HDGF PKNOX1 CLOCK SMAD1 FOXA2 MLX ARID4B SIN3A DMAP1 SLC30A9 TSPAN4 POLR2L GC11M000841 CD151 SNORA52 RPLP2 TMEM80 PIDD1 RIC8A BET1L
GH11I000824 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 41.2 -5.5 -5542 6.4 HDGF PKNOX1 ARID4B SIN3A DMAP1 POLR2B ZNF207 ZNF143 SP3 SP5 CRACR2B PIR51142 CD151 ENSG00000255108 RPLP2 LOC171391 CHID1 POLR2L B4GALNT4 PNPLA2
GH11I000836 Enhancer 1.1 ENCODE dbSUPER 62.4 +5.4 5356 2.8 MLX ARID4B SIN3A DMAP1 ZNF48 ZNF121 GLIS2 KLF7 SP3 SP5 GC11M000839 CD151 PIDD1 SNORA52 RPLP2 SLC25A22 CEND1 AP2A2 POLR2L PIR52875
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around CD151 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CD151 gene promoter:

Genomic Locations for CD151 Gene

Genomic Locations for CD151 Gene
chr11:832,843-839,831
(GRCh38/hg38)
Size:
6,989 bases
Orientation:
Plus strand
chr11:832,843-839,831
(GRCh37/hg19)

Genomic View for CD151 Gene

Genes around CD151 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CD151 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CD151 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CD151 Gene

Proteins for CD151 Gene

  • Protein details for CD151 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P48509-CD151_HUMAN
    Recommended name:
    CD151 antigen
    Protein Accession:
    P48509
    Secondary Accessions:
    • A8KAK8
    • E9PI15
    • Q14826
    • Q86U54
    • Q96TE3

    Protein attributes for CD151 Gene

    Size:
    253 amino acids
    Molecular mass:
    28295 Da
    Quaternary structure:
    • Interacts with integrins alpha3beta1, alpha5beta1, alpha3beta1 and alpha6beta4, with CD9 and CD181.

neXtProt entry for CD151 Gene

Post-translational modifications for CD151 Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for CD151 (CD151)
  • Abcam antibodies for CD151

No data available for DME Specific Peptides for CD151 Gene

Domains & Families for CD151 Gene

Gene Families for CD151 Gene

HGNC:
Human Protein Atlas (HPA):
  • Blood group antigen proteins
  • CD markers
  • Disease related genes
  • Potential drug targets
  • Predicted membrane proteins
  • Transporters

Suggested Antigen Peptide Sequences for CD151 Gene

Graphical View of Domain Structure for InterPro Entry

P48509

UniProtKB/Swiss-Prot:

CD151_HUMAN :
  • Belongs to the tetraspanin (TM4SF) family.
Family:
  • Belongs to the tetraspanin (TM4SF) family.
genes like me logo Genes that share domains with CD151: view

Function for CD151 Gene

Molecular function for CD151 Gene

GENATLAS Biochemistry:
cell differentiation antigen CD151,expressed in platelets
UniProtKB/Swiss-Prot Function:
Essential for the proper assembly of the glomerular and tubular basement membranes in kidney.
UniProtKB/Swiss-Prot Function:
(Microbial infection) Plays a role in human papillomavirus 16/HPV-16 endocytosis upon binding to cell surface receptor.
UniProtKB/Swiss-Prot Induction:
By HTLV-1.

Phenotypes From GWAS Catalog for CD151 Gene

Gene Ontology (GO) - Molecular Function for CD151 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005178 integrin binding IPI 24220332
GO:0005515 protein binding IPI 14676841
genes like me logo Genes that share ontologies with CD151: view
genes like me logo Genes that share phenotypes with CD151: view

Human Phenotype Ontology for CD151 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CD151 Gene

MGI Knock Outs for CD151:

Animal Model Products

Clone Products

  • Addgene plasmids for CD151

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for CD151 Gene

Localization for CD151 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CD151 Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CD151 gene
Compartment Confidence
plasma membrane 5
extracellular 5
cytosol 4
cytoskeleton 1
nucleus 1

Gene Ontology (GO) - Cellular Components for CD151 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005604 basement membrane IDA 23302890
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane NAS,TAS --
GO:0005887 integral component of plasma membrane TAS 8627808
GO:0005925 focal adhesion HDA,IDA 21423176
genes like me logo Genes that share ontologies with CD151: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CD151 Gene

Pathways & Interactions for CD151 Gene

genes like me logo Genes that share pathways with CD151: view

Pathways by source for CD151 Gene

Gene Ontology (GO) - Biological Process for CD151 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007155 cell adhesion NAS 9602068
GO:0007166 cell surface receptor signaling pathway IBA --
GO:0016477 cell migration IEA --
GO:0031581 hemidesmosome assembly TAS --
GO:0042098 T cell proliferation IEA --
genes like me logo Genes that share ontologies with CD151: view

No data available for SIGNOR curated interactions for CD151 Gene

Drugs & Compounds for CD151 Gene

(1) Drugs for CD151 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(2) Additional Compounds for CD151 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with CD151: view

Transcripts for CD151 Gene

Unigene Clusters for CD151 Gene

CD151 molecule (Raph blood group):
Representative Sequences:

Clone Products

  • Addgene plasmids for CD151

Alternative Splicing Database (ASD) splice patterns (SP) for CD151 Gene

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: - - - - - - - -
SP6: - - - - - - - - - - - -
SP7: - - - - - - - -
SP8: - - - - - - - - -
SP9: - - - - - - - - - -
SP10: - - - - - - - - - -
SP11: - - - - - - - - - -
SP12: - - - -
SP13: - - - - - - - - - - - - -
SP14: - - - - - - - - - -
SP15: - - - - - - - - - - - - - -
SP16: - - - - - - -
SP17: - - - - - -
SP18: - - - - - -
SP19:
SP20: - - - - - - - -
SP21: - - - - -
SP22: -

ExUns: 12a · 12b · 12c · 12d · 12e ^ 13
SP1:
SP2: -
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:
SP17:
SP18:
SP19:
SP20:
SP21:
SP22:

Relevant External Links for CD151 Gene

GeneLoc Exon Structure for
CD151
ECgene alternative splicing isoforms for
CD151

Expression for CD151 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CD151 Gene

mRNA differential expression in normal tissues according to GTEx for CD151 Gene

This gene is overexpressed in Artery - Aorta (x4.7).

Protein differential expression in normal tissues from HIPED for CD151 Gene

This gene is overexpressed in Nasal epithelium (13.8) and Gallbladder (12.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for CD151 Gene



NURSA nuclear receptor signaling pathways regulating expression of CD151 Gene:

CD151

SOURCE GeneReport for Unigene cluster for CD151 Gene:

Hs.654379

mRNA Expression by UniProt/SwissProt for CD151 Gene:

P48509-CD151_HUMAN
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.

Evidence on tissue expression from TISSUES for CD151 Gene

  • Intestine(4.7)
  • Kidney(4.6)
  • Liver(4.5)
  • Blood(4.4)
  • Lung(4.3)
  • Nervous system(4.3)
  • Skin(3.6)
  • Pancreas(3.3)
  • Heart(3)
  • Muscle(2.8)
  • Lymph node(2.1)
  • Bone marrow(2)
  • Eye(2)
  • Gall bladder(2)
  • Stomach(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CD151 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • cardiovascular
  • integumentary
  • nervous
  • urinary
Regions:
Head and neck:
  • head
  • lacrimal apparatus
Abdomen:
  • kidney
Pelvis:
  • ureter
  • urinary bladder
Limb:
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • nail
  • shin
  • toe
  • upper limb
General:
  • blood
  • red blood cell
  • skin
genes like me logo Genes that share expression patterns with CD151: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Protein tissue co-expression partners for CD151 Gene

Orthologs for CD151 Gene

This gene was present in the common ancestor of animals.

Orthologs for CD151 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CD151 33 34
  • 99.47 (n)
dog
(Canis familiaris)
Mammalia CD151 33 34
  • 91.01 (n)
cow
(Bos Taurus)
Mammalia CD151 33 34
  • 87.48 (n)
mouse
(Mus musculus)
Mammalia Cd151 33 16 34
  • 87.09 (n)
rat
(Rattus norvegicus)
Mammalia Cd151 33
  • 87.09 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia CD151 34
  • 78 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 24 (a)
ManyToMany
chicken
(Gallus gallus)
Aves CD151 33 34
  • 75 (n)
lizard
(Anolis carolinensis)
Reptilia CD151 34
  • 77 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cd151 33
  • 72.2 (n)
zebrafish
(Danio rerio)
Actinopterygii cd151l 33 34
  • 68.77 (n)
cd151 34
  • 65 (a)
OneToMany
Dr.7676 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8672 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011342 33
  • 49.33 (n)
fruit fly
(Drosophila melanogaster)
Insecta Tsp74F 33 34
  • 46.93 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8828 34
  • 41 (a)
OneToMany
Species where no ortholog for CD151 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CD151 Gene

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

Paralogs for CD151 Gene

Variants for CD151 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for CD151 Gene

CD151_HUMAN-P48509
CD151 defines the MER2=RAPH1 antigen of the RAPH blood group system. 92% of Caucasians are MER2-positive and 8% are apparently MER2-negative.

Sequence variations from dbSNP and Humsavar for CD151 Gene

SNP ID Clin Chr 11 pos Variation AA Info Type
rs1000219575 -- 832,082(+) AATACAGGGA/ upstream_transcript_variant
rs1000227600 -- 835,705(+) T/A intron_variant
rs1001136902 -- 836,569(+) G/T intron_variant
rs1001675877 -- 833,361(+) C/G intron_variant
rs1002262116 -- 832,032(+) G/A upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for CD151 Gene

Variant ID Type Subtype PubMed ID
nsv951272 CNV deletion 24416366
nsv8759 CNV gain 18304495
nsv832044 CNV loss 17160897
nsv552881 CNV loss 21841781
nsv552880 CNV loss 21841781
nsv552879 CNV loss 21841781
nsv552878 CNV loss 21841781
nsv552877 CNV loss 21841781
nsv552874 CNV gain 21841781
nsv552871 CNV loss 21841781
nsv469923 CNV loss 18288195
nsv1159791 CNV deletion 26073780
nsv1121828 CNV deletion 24896259
nsv1048774 CNV gain 25217958
nsv1040044 CNV gain+loss 25217958
esv2759794 CNV loss 17122850
esv1212776 CNV insertion 17803354
dgv182e199 CNV deletion 23128226
dgv1526n54 CNV gain 21841781
dgv1013n100 CNV gain 25217958

Variation tolerance for CD151 Gene

Residual Variation Intolerance Score: 36.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.19; 23.88% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CD151 Gene

Human Gene Mutation Database (HGMD)
CD151
Blood Group Antigen Gene Mutation Database (BGMUT)
Blood Group System
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CD151

Disorders for CD151 Gene

MalaCards: The human disease database

(5) MalaCards diseases for CD151 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
nephropathy with pretibial epidermolysis bullosa and deafness
  • nephrotic syndrome-deafness-pretibial epidermolysis bullosa syndrome
raph blood group system
  • mer2 blood cell antigen expression; mer2
skin squamous cell carcinoma
  • epidermoid skin carcinoma
reticulate acropigmentation of kitamura
  • rak
acute t cell leukemia
  • precursor t lymphoblastic leukemia
- elite association - COSMIC cancer census association via MalaCards
Search CD151 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CD151_HUMAN
  • 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. {ECO:0000269 PubMed:15265795}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for CD151

genes like me logo Genes that share disorders with CD151: view

No data available for Genatlas for CD151 Gene

Publications for CD151 Gene

  1. Palmitoylation of tetraspanin proteins: modulation of CD151 lateral interactions, subcellular distribution, and integrin-dependent cell morphology. (PMID: 11907260) Yang X … Hemler ME (Molecular biology of the cell 2002) 3 4 22 58
  2. Genomic organization, amplification, fine mapping, and intragenic polymorphisms of the human hemidesmosomal tetraspanin CD151 gene. (PMID: 11181065) Whittock NV … McLean WH (Biochemical and biophysical research communications 2001) 3 4 22 58
  3. Molecular cloning of cDNA encoding a novel platelet-endothelial cell tetra-span antigen, PETA-3. (PMID: 7632941) Fitter S … Ashman LK (Blood 1995) 3 4 22 58
  4. CD151 regulates HGF-stimulated morphogenesis of human breast cancer cells. (PMID: 19159612) Klosek SK … Hamakawa H (Biochemical and biophysical research communications 2009) 3 22 58
  5. Tetraspanin gene expression levels as potential biomarkers for malignancy of gingival squamous cell carcinoma. (PMID: 19330835) Hirano C … Takagi R (International journal of cancer 2009) 3 22 58

Products for CD151 Gene

Sources for CD151 Gene

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