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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
13
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Epidermolysis bullosa simplex 7, with nephropathy and deafness Pathogenic; Likely pathogenic rs1565118389, rs1846753757, rs1846841530 RCV000007805
RCV003222286
RCV003222287
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Acute myeloid leukemia Likely benign; Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CD151-related disorder Conflicting classifications of pathogenicity; Likely benign; Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
EPIDERMOLYSIS BULLOSA SIMPLEX Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Gastric cancer Likely benign; Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma Adenocarcinoma BEFREE 27577713
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Of Esophagus Esophageal Cancer BEFREE 27577713
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 25351816
★☆☆☆☆
Found in Text Mining only
Adult Hepatocellular Carcinoma Liver carcinoma BEFREE 28473332
★☆☆☆☆
Found in Text Mining only
Adult T-Cell Lymphoma/Leukemia T-Cell Lymphoma/Leukemia BEFREE 9743375
★☆☆☆☆
Found in Text Mining only
Anaplastic Ependymoma Anaplastic Ependymoma BEFREE 27401149
★☆☆☆☆
Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA Syndromic microphthalmia BEFREE 20927591
★☆☆☆☆
Found in Text Mining only
Arteriosclerosis Arteriosclerosis BEFREE 29138006
★☆☆☆☆
Found in Text Mining only
Asthma Asthma BEFREE 27233153
★☆☆☆☆
Found in Text Mining only
Barrett Esophagus Barrett esophagus Pubtator 20543560 Associate
★☆☆☆☆
Found in Text Mining only