CD151

Chr 11AR

CD151 molecule (Raph blood group)

Also known as: EBS7, GP27, MER2, PETA-3, RAPH, SFA1, TSPAN24

NCBI Gene: 977ENSG00000177697UniProt: P48509

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]

Primary Disease Associations & Inheritance

[Blood group, Raph]MIM #179620
Epidermolysis bullosa simplex 7, with nephropathy and deafnessMIM #609057
AR
283
ClinVar variants
33
Pathogenic / LP
0.00
pLI score
0
Active trials
Clinical Summary— CD151
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
33 Pathogenic / Likely Pathogenic· 128 VUS of 283 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
1.09LOEUF
pLI 0.000
Z-score 1.32
OE 0.64 (0.39–1.09)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
0.59Z-score
OE missense 0.87 (0.75–1.00)
135 obs / 155.9 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.0.64 (0.39–1.09)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.87 (0.75–1.00)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.1.29
0≤1.21.6
LoF obs/exp: 10 / 15.6Missense obs/exp: 135 / 155.9Syn Z: -1.85

ClinVar Variant Classifications

283 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic29
Likely Pathogenic4
VUS128
Likely Benign80
Benign23
Conflicting9
29
Pathogenic
4
Likely Pathogenic
128
VUS
80
Likely Benign
23
Benign
9
Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
1
0
28
0
29
Likely Pathogenic
3
0
1
0
4
VUS
0
91
32
5
128
Likely Benign
0
3
39
38
80
Benign
0
0
21
2
23
Conflicting
—9
Total49412145273

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

CD151 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Gene2Phenotype Curations

CD151-related nephropathy with pretibial epidermolysis bullosa and deafness

strong
ARLoss Of FunctionAbsent Gene Product
Dev. DisordersSkinEar
G2P ↗

Gene2Phenotype curations · DECIPHER consortium patient cohort (public variants) · deciphergenomics.org

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM
CD151 ANTIGEN; CD151
MIM #602243 · *

[Blood group, Raph]

MIM #179620

Molecular basis of disorder known

Epidermolysis bullosa simplex 7, with nephropathy and deafness

MIM #609057

Molecular basis of disorder known

Autosomal recessive
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
CD151-enriched migrasomes mediate hepatocellular carcinoma invasion by conditioning cancer cells and promoting angiogenesis.
Zhang K et al.·J Exp Clin Cancer Res
2024
Senescent fibroblasts secrete CTHRC1 to promote cancer stemness in hepatocellular carcinoma.
Huang H et al.·Cell Commun Signal
2025
Exploring the role of CD151 in the tumor immune microenvironment: Therapeutic and clinical perspectives.
Malla R et al.·Biochim Biophys Acta Rev Cancer
2023Review
CD151 and prostate cancer progression: A review of current literature.
Kang Z et al.·Asia Pac J Clin Oncol
2023Review
CD151 in cancer progression and metastasis: a complex scenario.
Sadej R et al.·Lab Invest
2014Review
Integrin α6-containing extracellular vesicles promote lymphatic remodelling for pre-metastatic niche formation in lymph nodes via interplay with CD151.
Lin Y et al.·J Extracell Vesicles
2024Functional
[Syndromes with skin fragility].
Reimer A et al.·Hautarzt
2019Review
CD151 interacts with integrin beta 2 in B cell lymphomas.
Hagemann PM et al.·Cell Mol Life Sci
2025
CD151, a novel host factor of nuclear export signaling in influenza virus infection.
Qiao Y et al.·J Allergy Clin Immunol
2018
Glycosylation of Tetraspanin CD151 Defines the Invasive Phenotype of Human Breast Cancer Cells.
Ohkawa Y et al.·FASEB J
2025
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools