CD151 Chromosome 11

CD151 molecule (Raph blood group)
9 variants 9 Health Risk

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What This Gene Does
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]
Gene Info
Gene Group
"Blood group antigens|CD molecules|Tetraspanins"
Locus Type
gene with protein product
Location
11p15.5
Ensembl
ENSG00000177697
Associated Conditions (4)
RAPH BLOOD GROUP SYSTEM
Epidermolysis bullosa simplex 7
with nephropathy and deafness
CD151-related disorder
Key Variants
All Variants (9)
RSID Category Clinical Significance Conditions
RS116211118 Health Risk Conflicting classifications of pathogenicity
RS1162525540 Health Risk Conflicting classifications of pathogenicity RAPH BLOOD GROUP SYSTEM, Epidermolysis bullosa simplex 7, with nephropathy and deafness
RS370838704 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 7, with nephropathy and deafness, RAPH BLOOD GROUP SYSTEM
RS374162358 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 7, with nephropathy and deafness, RAPH BLOOD GROUP SYSTEM
RS559057238 Health Risk Conflicting classifications of pathogenicity CD151-related disorder, CD151-related disorder
RS759213580 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 7, with nephropathy and deafness, Epidermolysis bullosa simplex 7
RS1846841530 Health Risk Likely pathogenic Epidermolysis bullosa simplex 7, with nephropathy and deafness, Epidermolysis bullosa simplex 7
RS1565118389 Health Risk Pathogenic Epidermolysis bullosa simplex 7, with nephropathy and deafness, Epidermolysis bullosa simplex 7
RS1846753757 Health Risk Pathogenic Epidermolysis bullosa simplex 7, with nephropathy and deafness, Epidermolysis bullosa simplex 7
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