Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
977
Gene name Gene Name - the full gene name approved by the HGNC.
CD151 molecule (Raph blood group)
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CD151
Synonyms (NCBI Gene) Gene synonyms aliases
EBS7, GP27, MER2, PETA-3, RAPH, SFA1, TSPAN24
Disease Acronyms (UniProt) Disease acronyms from UniProt database
EBS7
Chromosome Chromosome number
11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
11p15.5
Summary Summary of gene provided in NCBI Entrez 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
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs1565118389 ->G Pathogenic Coding sequence variant, frameshift variant
miRNA miRNA information provided by mirtarbase database.
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 assay, qRT-PCR, Western blot 24495805
MIRT053753 hsa-miR-22-3p Luciferase reporter assay, qRT-PCR, Western blot 24495805
Transcription factors
Transcription factor Regulation Reference
SP1 Activation 20149781
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005178 Function Integrin binding IDA 17716972, 27993971
GO:0005178 Function Integrin binding IPI 24220332
GO:0005515 Function Protein binding IPI 10811835, 14557253, 14676841, 25416956, 25910212, 29892012, 32296183
GO:0005604 Component Basement membrane IDA 23302890
GO:0005829 Component Cytosol TAS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
602243 1630 ENSG00000177697
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Epidermolysis bullosa Epidermolysis bullosa, pretibial rs137852757, rs80356682, rs80356680, rs786205094, rs121912482, rs786205095, rs587776813, rs121912487, rs587776814, rs1558092501, rs80356683, rs118203899, rs118203900, rs1558095794, rs118203901
View all (97 more)
Hearing loss Sensorineural Hearing Loss (disorder) rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359
View all (184 more)
Kidney disease Kidney Diseases, Chronic kidney disease stage 5 rs74315342, rs749740335, rs757649673, rs112417755, rs35138315
Nephropathy with pretibial epidermolysis bullosa and deafness Nephropathy with Pretibial Epidermolysis Bullosa and Deafness rs121908681, rs587784343, rs587784353, rs121908685, rs121908686, rs200075782, rs587784350, rs149712244, rs535486098, rs587784330, rs797045888, rs1555978219, rs1554292444, rs1569243771 29138120, 15265795
Unknown
Disease term Disease name Evidence References Source
Epidermolysis Bullosa Simplex epidermolysis bullosa simplex 7, with nephropathy and deafness GenCC
Associations from Text Mining
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