Gene Gene information from NCBI Gene database.
Entrez ID 977
Gene name CD151 molecule (Raph blood group)
Gene symbol CD151
Synonyms (NCBI Gene)
EBS7GP27MER2PETA-3RAPHSFA1TSPAN24
Chromosome 11
Chromosome location 11p15.5
Summary 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
SNPs SNP information provided by dbSNP.
1
SNP ID Visualize variation Clinical significance Consequence
rs1565118389 ->G Pathogenic Coding sequence variant, frameshift variant
miRNA miRNA information provided by mirtarbase database.
156
miRTarBase ID miRNA Experiments Reference
MIRT022976 hsa-miR-124-3p Microarray 18668037
MIRT052276 hsa-let-7b-5p CLASH 23622248
MIRT042936 hsa-miR-324-3p CLASH 23622248
MIRT053753 hsa-miR-22-3p Luciferase reporter assayqRT-PCRWestern blot 24495805
MIRT053753 hsa-miR-22-3p Luciferase reporter assayqRT-PCRWestern blot 24495805
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
SP1 Activation 20149781
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
24
GO ID Ontology Definition Evidence Reference
GO:0005178 Function Integrin binding IDA 17716972, 27993971
GO:0005178 Function Integrin binding IEA
GO:0005178 Function Integrin binding IPI 24220332
GO:0005515 Function Protein binding IPI 10811835, 14557253, 14676841, 25416956, 25910212, 29892012, 32296183, 33961781, 35271311
GO:0005604 Component Basement membrane IDA 23302890
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
602243 1630 ENSG00000177697
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P48509
Protein name CD151 antigen (GP27) (Membrane glycoprotein SFA-1) (Platelet-endothelial tetraspan antigen 3) (PETA-3) (Tetraspanin-24) (Tspan-24) (CD antigen CD151)
Protein function Structural component of specialized membrane microdomains known as tetraspanin-enriched microdomains (TERMs), which act as platforms for receptor clustering and signaling. Plays a role in various cellular and molecular mechanism through its asso
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00335 Tetraspanin 16 247 Tetraspanin family Family
Tissue specificity 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 (PubMed:15265795). Acts as a sensitive
Sequence
Sequence length 253
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Assembly of collagen fibrils and other multimeric structures
Type I hemidesmosome assembly
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
85
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Epidermolysis bullosa simplex 7, with nephropathy and deafness Pathogenic; Likely pathogenic rs1565118389, rs1846753757, rs1846841530 RCV000007805
RCV003222286
RCV003222287
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Likely benign; Benign rs12420593, rs111473261 RCV005917696
RCV005923616
CD151-related disorder Conflicting classifications of pathogenicity; Likely benign; Benign rs559057238, rs144204595, rs572689402, rs781747523, rs138746134, rs34726520, rs117252522, rs199816860, rs374490956 RCV003953685
RCV003946271
RCV003906336
RCV003909130
RCV003981747
RCV004758067
RCV004758071
RCV003933153
RCV004758090
Gastric cancer Likely benign; Uncertain significance rs34037130, rs750823987, rs374490956 RCV005914525
RCV005920786
RCV005903025
Lung cancer Likely benign rs12420593 RCV005917698
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Associate 20543560
Adenocarcinoma of Lung Associate 18492066
Ascites Associate 36613908
Barrett Esophagus Associate 20543560
beta Thalassemia Associate 15265795
Breast Neoplasms Associate 21505452, 22294188, 22791584, 23717581, 23816858, 26418423, 30468476
Carcinogenesis Associate 36613908
Carcinoma Hepatocellular Associate 21961047, 30794666, 37960718
Carcinoma Hepatocellular Stimulate 28473332
Carcinoma Intraductal Noninfiltrating Associate 26464707