CD151 Gene - Tetraspanin Family Member
A comprehensive resource on CD151 gene, its function, associated diseases, expression, and mutations.
Gene Information Card
| Symbol | CD151 |
|---|---|
| Full Name | CD151 molecule (Raph blood group) |
| Gene Type | protein-coding |
| Chromosomal Location | 11p15.5 |
| NCBI Gene ID | 977 ncbi.nlm.nih.gov/gene/977 |
| Ensembl ID | ENSG00000131759 |
| UniProt ID | P48509 |
| OMIM ID | 179620 |
| HGNC ID | 1630 |
| Aliases | GP27, MER2, RAPH, TSPAN24, PETA-3, SFA1 |
Description
CD151 is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. It is a cell surface glycoprotein that forms complexes with integrins and other tetraspanins, playing a crucial role in cell adhesion, migration, and signal transduction. CD151 is involved in various physiological processes including hemostasis, angiogenesis, and kidney function. It is also implicated in cancer progression and metastasis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hereditary nephropathy with pre tibial epidermolysis bullosa and deafness | Mutations in CD151 disrupt integrin-mediated cell-matrix adhesion in kidney podocytes and skin keratinocytes, leading to basement membrane abnormalities. | OMIM #609057; PMID: 15052268 |
| Cancer (various types, e.g., breast, lung, prostate) | Overexpression of CD151 promotes tumor cell migration, invasion, and metastasis through enhanced integrin signaling and matrix metalloproteinase activity. | PMID: 17909063; PMID: 21804532 |
| Thrombocytopenia | CD151 deficiency impairs platelet aggregation and adhesion due to defective integrin αIIbβ3 signaling. | PMID: 15117758 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 12.5 | High |
| Lung | 8.3 | Medium |
| Breast | 7.1 | Medium |
| Prostate | 6.8 | Medium |
| Liver | 5.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.2 | High expression |
| A549 (lung cancer) | 12.8 | High expression |
| MCF7 (breast cancer) | 9.5 | Medium expression |
| HepG2 (liver cancer) | 6.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.511C>T (p.Arg171*) | Nonsense | Rare | Loss of function; associated with nephropathy and epidermolysis bullosa |
| c.377G>A (p.Arg126Gln) | Missense | Rare | Impaired integrin binding; reduced cell adhesion |
| c.1A>G (p.Met1?) | Start loss | Rare | Loss of protein expression |
Mutation functional classification
Loss of Function (LOF)
Nonsense and start-loss mutations lead to truncated or absent CD151 protein, disrupting integrin-mediated adhesion and causing hereditary nephropathy.
Gain of Function (GOF)
Not well documented; overexpression in cancer is considered a gain-of-function event promoting metastasis.
Dominant Negative (DN)
Not reported for CD151.
View complete mutation data：
Gene Ontology (GO)
| • plasma membrane (GO:0005886) | • cell adhesion (GO:0007155) |
| • integrin binding (GO:0005178) | • regulation of cell adhesion (GO:0030155) |
| • integral component of membrane (GO:0016021) | • signal transduction (GO:0007165) |
Pathways
• Integrin signaling pathway (KEGG: hsa04510)
• Tetraspanin-enriched microdomains (TEMs) in cell motility
Protein Summary
CD151 is a 253-amino acid tetraspanin protein with four transmembrane domains, a small extracellular loop (SEL), and a large extracellular loop (LEL) containing conserved cysteine residues. It localizes to the plasma membrane and forms complexes with integrins (e.g., α3β1, α6β4) and other tetraspanins. CD151 regulates cell adhesion, migration, and signaling by modulating integrin trafficking and activation. It is essential for normal kidney function, platelet aggregation, and skin integrity. Aberrant expression or mutation of CD151 contributes to cancer metastasis and hereditary diseases.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CD151 Knockout HEK293 Cell Line | EDJ-KQ2542 | Human | 977 | Details Get a Quote |
| CD151 Knockout A-549 Cell Line | EDJ-KQ23184 | Human | 977 | Details Get a Quote |
| CD151 Knockout HCT 116 Cell Line | EDJ-KQ23185 | Human | 977 | Details Get a Quote |
| CD151 Knockout HeLa Cell Line | EDJ-KQ23186 | Human | 977 | Details Get a Quote |
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