CD151

Summary

CD151 (CD151 molecule (Raph blood group), HGNC:1630) is a protein-coding gene on chromosome 11p15.5, encoding CD151 antigen (P48509). Structural component of specialized membrane microdomains known as tetraspanin-enriched microdomains (TERMs), which act as platforms for receptor clustering and signaling.

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.

Source: NCBI Gene 977 — RefSeq curated summary.

At a glance

• Gene–disease (curated): epidermolysis bullosa simplex 7, with nephropathy and deafness (Strong, GenCC)
• GWAS associations: 3
• Clinical variants (ClinVar): 245 total — 2 pathogenic, 4 likely-pathogenic
• Phenotypes (HPO): 9
• MANE Select transcript: NM_004357

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:1630
Approved symbol	CD151
Name	CD151 molecule (Raph blood group)
Location	11p15.5
Locus type	gene with protein product
Status	Approved
Aliases	SFA-1, PETA-3, TSPAN24, RAPH
Ensembl gene	ENSG00000177697
Ensembl biotype	protein_coding
OMIM	602243
Entrez	977

Gene structure

Transcript identifiers

Ensembl transcripts: 63 — 53 protein_coding, 7 retained_intron, 2 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay

ENST00000322008, ENST00000397420, ENST00000397421, ENST00000524748, ENST00000525181, ENST00000525333, ENST00000525718, ENST00000525868, ENST00000526439, ENST00000526661, ENST00000526693, ENST00000527341, ENST00000528011, ENST00000528867, ENST00000529810, ENST00000530155, ENST00000530320, ENST00000530726, ENST00000531999, ENST00000532045, ENST00000532075, ENST00000642413, ENST00000645878, ENST00000890765, ENST00000890766, ENST00000890767, ENST00000890768, ENST00000890769, ENST00000890770, ENST00000890771, ENST00000890772, ENST00000890773, ENST00000890774, ENST00000890775, ENST00000890776, ENST00000890777, ENST00000890778, ENST00000890779, ENST00000890780, ENST00000890781, ENST00000890782, ENST00000890783, ENST00000890784, ENST00000890785, ENST00000890786, ENST00000890787, ENST00000890788, ENST00000919377, ENST00000919378, ENST00000919379, ENST00000919380, ENST00000919381, ENST00000919382, ENST00000919383, ENST00000946303, ENST00000946304, ENST00000946305, ENST00000946306, ENST00000946307, ENST00000946308, ENST00000946309, ENST00000946310, ENST00000946311

RefSeq mRNA: 4 — MANE Select: NM_004357 NM_001039490, NM_004357, NM_139029, NM_139030

CCDS: CCDS7719

Canonical transcript exons

ENST00000397420 — 9 exons

Exon	Start	End
ENSE00001263141	836769	836843
ENSE00001378752	834530	834591
ENSE00001399212	832952	833026
ENSE00003483015	836063	836153
ENSE00003536931	837250	837354
ENSE00003614929	837942	838028
ENSE00003671601	837460	837618
ENSE00003791418	836251	836442
ENSE00003847891	838133	838831

Expression profiles

Bgee: expression breadth ubiquitous, 276 present calls, max score 99.70.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 120.1988 / max 889.2828, expressed in 1821 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
112309	116.3832	1819
112307	1.6664	979
112316	1.6456	967
112314	0.3632	164
112308	0.1404	42

Top tissues by expression

290 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
descending thoracic aorta	UBERON:0002345	99.70	gold quality
thoracic aorta	UBERON:0001515	99.64	gold quality
ascending aorta	UBERON:0001496	99.63	gold quality
right coronary artery	UBERON:0001625	99.60	gold quality
aorta	UBERON:0000947	99.53	gold quality
left coronary artery	UBERON:0001626	99.52	gold quality
popliteal artery	UBERON:0002250	99.49	gold quality
tibial artery	UBERON:0007610	99.49	gold quality
stromal cell of endometrium	CL:0002255	99.44	gold quality
coronary artery	UBERON:0001621	99.44	gold quality
apex of heart	UBERON:0002098	99.43	gold quality
body of pancreas	UBERON:0001150	99.21	gold quality
omental fat pad	UBERON:0010414	99.18	gold quality
peritoneum	UBERON:0002358	99.14	gold quality
upper lobe of left lung	UBERON:0008952	99.14	gold quality
right atrium auricular region	UBERON:0006631	99.13	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	99.11	gold quality
body of uterus	UBERON:0009853	99.10	gold quality
lower esophagus muscularis layer	UBERON:0035833	99.09	gold quality
right lung	UBERON:0002167	99.08	gold quality
lower esophagus	UBERON:0013473	99.08	gold quality
adipose tissue of abdominal region	UBERON:0007808	99.04	gold quality
mucosa of transverse colon	UBERON:0004991	99.01	gold quality
transverse colon	UBERON:0001157	98.99	gold quality
left uterine tube	UBERON:0001303	98.99	gold quality
mucosa of stomach	UBERON:0001199	98.96	gold quality
metanephros cortex	UBERON:0010533	98.96	gold quality
body of stomach	UBERON:0001161	98.94	gold quality
gall bladder	UBERON:0002110	98.92	gold quality
muscle layer of sigmoid colon	UBERON:0035805	98.91	gold quality

Single-cell (SCXA)

Detected in 14 experiment(s), a significant marker in 12.

Experiment	Marker?	Max mean expression
E-MTAB-10662	yes	639.47
E-MTAB-7052	yes	126.50
E-HCAD-1	yes	42.18
E-HCAD-10	yes	28.49
E-MTAB-8410	yes	25.70
E-MTAB-6701	yes	16.87
E-HCAD-9	yes	14.81
E-ANND-3	yes	13.29
E-HCAD-13	yes	12.32
E-CURD-46	yes	12.13
E-CURD-112	yes	7.86
E-HCAD-25	yes	4.44
E-MTAB-7051	no	485.41
E-MTAB-10137	no	94.56

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): HIF1A, SP1

miRNA regulators (miRDB)

35 targeting CD151, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-4455	100.00	65.48	1587
HSA-MIR-548AN	99.97	70.91	2817
HSA-MIR-6780B-5P	99.96	69.60	2562
HSA-MIR-4725-3P	99.96	69.53	2520
HSA-MIR-124-3P	99.89	73.74	3043
HSA-MIR-506-3P	99.89	73.55	3057
HSA-MIR-4731-5P	99.89	67.23	2537
HSA-MIR-7162-3P	99.89	68.16	1682
HSA-MIR-4271	99.88	68.32	2244
HSA-MIR-4492	99.87	68.25	3611
HSA-MIR-4728-5P	99.85	69.39	4718
HSA-MIR-3663-3P	99.84	70.39	798
HSA-MIR-199A-3P	99.75	70.48	929
HSA-MIR-199B-3P	99.75	70.48	929
HSA-MIR-3129-5P	99.75	70.46	914
HSA-MIR-6513-3P	99.59	69.77	1102
HSA-MIR-4708-3P	99.51	67.99	870
HSA-MIR-1207-5P	99.49	69.11	2983
HSA-MIR-4505	99.27	67.81	2678
HSA-MIR-5787	99.22	67.86	2628
HSA-MIR-4763-3P	99.10	67.83	2649
HSA-MIR-2355-5P	98.83	65.51	1589
HSA-MIR-519A-2-5P	98.78	71.74	1401
HSA-MIR-520B-5P	98.78	71.74	1401
HSA-MIR-222-5P	98.75	69.17	1242
HSA-MIR-1227-5P	98.65	65.32	1549
HSA-MIR-767-3P	98.61	67.69	1192
HSA-MIR-5589-5P	98.34	64.82	1148
HSA-MIR-1301-5P	98.09	66.62	495
HSA-MIR-6502-5P	98.09	66.73	495

Literature-anchored findings (GeneRIF, showing 40)

• CD151-alpha6beta1 integrin complex acts as a functional unit that markedly influences cellular morphogenesis, with the CD151 tail is of particular importance in determining the “outside-in” functions of alpha6beta1-integrin that follow ligand engagement (PMID:11809818)
• Association of CD151 with the laminin-binding integrins alpha3beta1, alpha6beta1, alpha6beta4 and alpha7beta1 (PMID:11884516)
• Data demonstrate that multiple tetraspanin (transmembrane 4 superfamily) proteins such as CD151 are palmitoylated, and that palmitoylation is not required for cd151-alpha3beta1 integrin association. (PMID:11907260)
• CD151 may be involved in the interaction of platelets with the subendothelial matrix at sites of vascular damage [review] (PMID:12456024)
• downregulation of CD151 antigen is associated with breast tumor progression (PMID:12579280)
• CD151 is essential for normal platelet function and that disruption of CD151 induced a moderate outside-in integrin alpha(IIb)beta(3) signaling defect (PMID:15226180)
• CD151 is essential for the proper assembly of the glomerular and tubular basement membrane in kidney, has functional significance in the skin, is probably a component of the inner ear, and could play a role in erythropoiesis (PMID:15265795)
• endothelial CD151 tetraspanins relocalize to the contact site with transmigrating leukocytes and associate laterally with both intercellular adhesion molecule-1 (ICAM-1) and vascular cell adhesion molecule-1 (VCAM-1) (PMID:15591117)
• Results indicate that CD151 association modulates the ligand-binding activity of integrin alpha3beta1 through stabilizing its activated conformation not only with purified proteins but also in a physiological context. (PMID:15677332)
• These results suggest that CD151 forms a structural and functional complex with c-Met and integrin alpha3/alpha6, and exerts its oncogenic functions through excessive activation of the HGF/c-Met signalling pathway. (PMID:16139245)
• A role of CD151 in melanocyte motility was shown. (PMID:16297202)
• Dissociation of the CD151-integrin complex permits remodeling of epithelial cell interactions with the extracellular matrix and cell migration. (PMID:16490193)
• CD151 plays a critical role in tumor cell responses to laminin-5 and reveal promotion of integrin recycling as a novel potential mechanism. (PMID:16571677)
• homophilic interactions of CD151 stimulate integrin-dependent signaling pathways in human melanoma cells, leading to enhanced cell motility (PMID:16798740)
• These data demonstrate that CD151 is overexpressed in osteoarthritic cartilage and suggest that CD151 plays a role in the pericellular activation of proMMP-7, leading to cartilage destruction and/or chondrocyte cloning. (PMID:17009258)
• Chondrocytes with low chondrogenic capacity expressed higher levels of IGF-1, MMP-2, aggrecanase 2, while chondrocytes with high chondrogenic capacity expressed higher levels of CD44, CD151, and CD49c. (PMID:17265493)
• results elucidated the importance of CD151 as one of the key molecules for integrin-dependent carcinoma-stroma interaction (PMID:17632541)
• CD151 promotes cell migration by regulating integrin trafficking. (PMID:17716972)
• examined whether CD63-PI4K55 and CD9-PI4K55 complexes were resident in platelet-lipid rafts, or formed distinct microdomains (PMID:18000614)
• Demonstrate that promoting immobility through a CD151-specific metastasis blocking mAb prevents tumor cell dissemination by inhibiting intravasation without affecting primary tumor growth, tumor cell arrest, extravasation, or growth at the secondary site. (PMID:18328426)
• CD151-alpha(6) integrin complexes play a functional role in basal-like mammary tumor progression. (PMID:18451146)
• CD151 regulates integrin alpha3beta1 functions in two independent aspects: potentiation of integrin alpha3beta1-mediated cell adhesion and promotion of integrin alpha3beta1-stimulated signaling events involving tyrosine phosphorylation (PMID:18492066)
• DHHC2 affects palmitoylation, stability, and functions of tetraspanins CD9 and CD151 (PMID:18508921)
• CD151 is a key regulator of MT1-MMP in endothelial homeostasis (PMID:18663148)
• CD151 plays an important role in post-translation modification of alpha3beta1 integrin and strongly suggest that changes in integrin glycosylation are critical for the promigratory activity of this tetraspanin. (PMID:18852263)
• Three blood group antigens genes, namely CD55, CD151, and SLC14A1, have been subjected to balancing selection, a process, rare outside MHC genes, which maintains variability at a locus. (PMID:18997004)
• The combination of CD151/c-Met is a novel marker in predicting the prognosis of hepatocellular carcinoma and a potential therapeutic target. (PMID:19065669)
• The regulation of CD151 expression might contribute to changes in HGF/c-Met signaling and thereby modulate the phenotypic characteristics of cancer cells. (PMID:19159612)
• Over-expression of CD151 is associated with malignancy of gingival squamous cell carcinoma. (PMID:19330835)
• Data show that loss of CD151 causes excessive RhoA activation, loss of actin organization at cell-cell junctions, increased actin stress fibers, and suggest that it is also an important regulator of the stability of tumor cell-cell interactions. (PMID:19509057)
• Investigated the contribution of CD151 in breast cancer tumorigenesis using MDA-MB-231 cells as a model system. Data suggests a new role of CD151 in tumorigenesis-as an important regulator of communication between tumor cells and endothelial cells. (PMID:19531562)
• platelet CD151 is required for regulating thrombus formation in vivo (PMID:19740096)
• SP1 is pivotal to CD151 transcription partly via the construction of a local open chromatin configuration across the promoter. (PMID:20149781)
• Overexpression of CD151 up-regulated the expression of MMP9 through the PI3K/Akt/GSK-3beta/Snail pathway and promotes neoangiogenesis and progression of hepatocellular carcinoma. (PMID:20578262)
• CD151 overexpression promotes endothelial cell proliferation, migration and tube formation via activation of the ERK signaling pathway (PMID:20581856)
• the expression and role of CD151 in intrahepatic cholangiocarcinoma (PMID:20715158)
• CD151, c-Met, and integrin alpha3/alpha6 were all overexpressed in pancreatic ductal adenocarcinoma. CD151 and c-Met might be new molecular markers to predict the prognosis of pancreatic ductal adenocarcinoma patients. (PMID:20927591)
• CD151 controls Met-dependent neoplastic growth by enhancing receptor signaling through beta4 integrin-mediated pathways, independent of cell-substrate adhesion (PMID:20937830)
• High CD151 expression is associated with tumor proliferation and invasiveness in esophageal squamous cell carcinoma. (PMID:20978946)
• CD151 plays a specific role in promoting prostate cancer cell motility. (PMID:21042756)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	cd151	ENSDARG00000038288
danio_rerio	cd151l	ENSDARG00000068629
mus_musculus	Cd151	ENSMUSG00000025510
rattus_norvegicus	Cd151	ENSRNOG00000062573

Paralogs (32): TSPAN6 (ENSG00000000003), CD9 (ENSG00000010278), TSPAN9 (ENSG00000011105), TSPAN17 (ENSG00000048140), TSPAN32 (ENSG00000064201), CD82 (ENSG00000085117), TSPAN15 (ENSG00000099282), CD37 (ENSG00000104894), UPK1A (ENSG00000105668), TSPAN12 (ENSG00000106025), TSPAN13 (ENSG00000106537), TSPAN14 (ENSG00000108219), CD81 (ENSG00000110651), TSPAN11 (ENSG00000110900), PRPH2 (ENSG00000112619), UPK1B (ENSG00000114638), TSPAN1 (ENSG00000117472), TSPAN8 (ENSG00000127324), TSPAN16 (ENSG00000130167), TSPAN2 (ENSG00000134198), CD63 (ENSG00000135404), TSPAN31 (ENSG00000135452), TSPAN3 (ENSG00000140391), CD53 (ENSG00000143119), ROM1 (ENSG00000149489), TSPAN7 (ENSG00000156298), TSPAN18 (ENSG00000157570), TSPAN33 (ENSG00000158457), TSPAN5 (ENSG00000168785), TSPAN10 (ENSG00000182612), TSPAN4 (ENSG00000214063), TSPAN19 (ENSG00000231738)

Protein

Protein identifiers

CD151 antigen — P48509 (reviewed: P48509)

Alternative names: GP27, Membrane glycoprotein SFA-1, Platelet-endothelial tetraspan antigen 3, Tetraspanin-24

All UniProt accessions (11): P48509, E9PJC8, E9PJE8, E9PK37, E9PLZ6, E9PMR4, E9PP93, E9PRJ3, E9PSA1, K4DIA7, K4DIB7

UniProt curated annotations — full annotation on UniProt →

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 association with both integrin and non-integrin proteins. These interactions facilitate critical cellular functions, including cell-to-cell communication, wound healing, platelet aggregation, trafficking, cell motility, and angiogenesis. Via interaction with JAM-A/F11R and integrin ITGA3:ITGB1, promotes the recruitment of signaling molecules such as RAC1, CDC42 and RhoGTPases to facilitate the polarization of epithelial cells and the reorganization of the actin cytoskeleton, which are critical steps in cell migration process. Regulates the glycosylation pattern of ITGA3:ITGB1 thereby modulating its activity. Plays an essential role in the maintenance of central laminin-binding integrin ITGA6:ITGB4-containing adhesion complexes. Essential for the proper assembly of the glomerular and tubular basement membranes in kidney. Contributes to T-cell activation by modulating integrin signaling leading to activation of downstream targets PTK2 and MAPK1/MAPK3. (Microbial infection) Plays a role in human papillomavirus 16/HPV-16 endocytosis upon binding to cell surface receptor. (Microbial infection) Plays a role in human cytomegalovirus entry into host cell by contributing to entry receptor binding, membrane fusion, or release of the capsid.

Subunit / interactions. Interacts with integrins ITGA3:ITGB1, ITGA5:ITGB1, ITGA3:ITGB1 and ITGA6:ITGB4 and with CD9 and CD181. Interacts (via the second extracellular domain) with integrin ITGAV:ITGB3. Interacts with ITGA3; this interaction modulates ITGA3 glycosylation pattern. Interacts with F11R. Interacts with RAC1 and CDC42; these interactions mediate physical association of RAC1 and CDC42 with integrin adhesion receptor complexes.

Subcellular location. Cell membrane.

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. Acts as a sensitive T-cell activation marker.

Post-translational modifications. Palmitoylated. Palmitoylation by ZDHHC2 regulates CD151 expression, association with other tetraspanin family proteins and function in cell adhesion. Ubiquitinated by RNF128 on lysine residues present in the tetraspanin amino terminus via ‘Lys-48’-linked ubiquitin leading to proteasomal degradation.

Disease relevance. Epidermolysis bullosa simplex 7, with nephropathy and deafness (EBS7) [MIM:609057] A form of epidermolysis bullosa, a genodermatosis characterized by recurrent blistering, fragility of the skin and mucosal epithelia, and erosions caused by minor mechanical trauma. EBS7 is an autosomal recessive disorder characterized by the association of skin blistering, hereditary nephritis, sensorineural deafness, and beta-thalassemia minor. Skin blistering is present at birth, particularly in the tibial area but also scattered on other parts of the body. The disease is caused by variants affecting the gene represented in this entry.

Induction. On both CD4 and CD8 T-cells following TCR/CD3 activation.

Polymorphism. CD151 defines the MER2=RAPH1 antigen of the RAPH blood group system. 92% of Caucasians are MER2-positive and 8% are apparently MER2-negative.

Similarity. Belongs to the tetraspanin (TM4SF) family.

RefSeq proteins (4): NP_001034579, NP_004348, NP_620598, NP_620599 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000301	Tetraspanin_animals	Family
IPR008952	Tetraspanin_EC2_sf	Homologous_superfamily
IPR018499	Tetraspanin/Peripherin	Family
IPR018503	Tetraspanin_CS	Conserved_site

Pfam: PF00335

UniProt features (23 total): topological domain 5, lipid moiety-binding region 4, sequence variant 4, mutagenesis site 4, transmembrane region 4, chain 1, glycosylation site 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P48509-F1	88.02	0.68

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (4): 11, 15, 242, 243

Glycosylation sites (1): 159

Mutagenesis-validated functional residues (4):

Position	Phenotype
7	complete loss of rnf128-mediated ubiquitination; when associated with r-8 and r-17.
8	complete loss of rnf128-mediated ubiquitination; when associated with r-7 and r-17.
17	complete loss of rnf128-mediated ubiquitination; when associated with r-7 and r-8.
159	unable to modulate the glycosylation pattern of integrin itga3 subunit.

Function

Pathways and Gene Ontology

Reactome pathways

6 pathways

ID	Pathway
R-HSA-2022090	Assembly of collagen fibrils and other multimeric structures
R-HSA-446107	Type I hemidesmosome assembly
R-HSA-1474244	Extracellular matrix organization
R-HSA-1474290	Collagen formation
R-HSA-1500931	Cell-Cell communication
R-HSA-446728	Cell junction organization

MSigDB gene sets: 234 (showing top): GOBP_MORPHOGENESIS_OF_AN_EPITHELIUM, MODULE_52, GOBP_EPITHELIUM_DEVELOPMENT, CHIARADONNA_NEOPLASTIC_TRANSFORMATION_KRAS_DN, GOBP_POSITIVE_REGULATION_OF_ENDOCYTOSIS, HOFFMANN_SMALL_PRE_BII_TO_IMMATURE_B_LYMPHOCYTE_DN, GOCC_CELL_SURFACE, MODULE_128, GOBP_VESICLE_MEDIATED_TRANSPORT, GOBP_REGULATION_OF_VESICLE_MEDIATED_TRANSPORT, GOBP_WOUND_HEALING, GTGCCTT_MIR506, MODULE_118, BROWNE_HCMV_INFECTION_48HR_DN, GOBP_LEUKOCYTE_PROLIFERATION

GO Biological Process (6): cell adhesion (GO:0007155), cell migration (GO:0016477), positive regulation of cell migration (GO:0030335), T cell proliferation (GO:0042098), wound healing, spreading of cells (GO:0044319), positive regulation of endocytosis (GO:0045807)

GO Molecular Function (2): integrin binding (GO:0005178), protein binding (GO:0005515)

GO Cellular Component (6): basement membrane (GO:0005604), cytosol (GO:0005829), plasma membrane (GO:0005886), focal adhesion (GO:0005925), cell surface (GO:0009986), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-4 pathways:

Category	Pathways
Collagen formation	1
Cell junction organization	1
Extracellular matrix organization	1
Cell-Cell communication	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
cell migration	2
cellular process	1
cell motility	1
regulation of cell migration	1
positive regulation of cell motility	1
T cell activation	1
lymphocyte proliferation	1
epiboly involved in wound healing	1
endocytosis	1
regulation of endocytosis	1
positive regulation of transport	1
positive regulation of cellular component organization	1
signaling receptor binding	1
protein-containing complex binding	1
cell adhesion molecule binding	1
binding	1
extracellular matrix	1
cytoplasm	1
membrane	1
cell periphery	1
cell-substrate junction	1

Protein interactions and networks

STRING

1558 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CD151	GP5	P40197	994
CD151	COL17A1	Q9UMD9	985
CD151	DST	Q03001	983
CD151	REC114	Q7Z4M0	983
CD151	MEI4	A8MW99	980
CD151	PLEC	Q15149	976
CD151	ITGA3	P26006	967
CD151	EGFR	P00533	940
CD151	CD63	P08962	935
CD151	PTGFRN	Q9P2B2	935
CD151	CD81	P18582	891
CD151	CD9	P21926	839
CD151	HSP90AA1	P07900	834
CD151	HSP90AB1	P08238	834
CD151	ITGA6	P23229	813

IntAct

81 interactions, top by confidence:

A	B	Type	Score
CD151	GRAMD1C	psi-mi:“MI:0915”(physical association)	0.850
GRAMD1C	CD151	psi-mi:“MI:0915”(physical association)	0.850
TSPAN15	ADAM10	psi-mi:“MI:0914”(association)	0.840
TSPAN5	ADAM10	psi-mi:“MI:0914”(association)	0.800
CD151	ITGA3	psi-mi:“MI:0915”(physical association)	0.760
CD151	ITGA3	psi-mi:“MI:0403”(colocalization)	0.760
ITGA3	CD151	psi-mi:“MI:0403”(colocalization)	0.760
CD9	ADAM10	psi-mi:“MI:0914”(association)	0.750
ADAM10	CD9	psi-mi:“MI:0914”(association)	0.750
TSPAN14	ADAM10	psi-mi:“MI:0914”(association)	0.740
CD151	ITGA6	psi-mi:“MI:0915”(physical association)	0.700
CD151	ITGA6	psi-mi:“MI:0403”(colocalization)	0.700
CD151	ITGB4	psi-mi:“MI:0915”(physical association)	0.600
CD151	ITGB4	psi-mi:“MI:0403”(colocalization)	0.600
CD151	ARL13B	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (80): GRAMD1C (Two-hybrid), GRAMD1C (Two-hybrid), CD151 (Affinity Capture-MS), CD151 (Affinity Capture-MS), CD151 (Affinity Capture-RNA), CD151 (Affinity Capture-Western), CD151 (Affinity Capture-MS), BCL7A (Two-hybrid), CD151 (Affinity Capture-MS), CD151 (Affinity Capture-MS), CD151 (Proximity Label-MS), GRAMD1C (Two-hybrid), CD151 (Two-hybrid), CD151 (Two-hybrid), CD151 (Two-hybrid)

ESM2 similar proteins: A0A8M2B5N2, A0A8V0ZLT4, A1L157, F7BWT7, O35566, O60636, O60637, O75841, O95858, P11049, P20274, P21926, P30413, P30932, P31053, P38573, P40239, P40240, P40241, P48509, P54825, P55344, P56563, P61170, P61171, Q1JQA4, Q2KHY8, Q3SZR9, Q3ZBH3, Q566D0, Q58CY8, Q5RE11, Q61470, Q6GQF5, Q6GR34, Q6IP19, Q6PBE5, Q6PFT6, Q7SZ07, Q80WR1

Diamond homologs: A1L157, B5X3I6, O14817, O35566, O60636, O70352, P19075, P24485, P27701, P40241, P48509, P60033, P60034, P61170, P61171, Q0VC33, Q3ZBH3, Q4V8E0, Q568Y5, Q58CY8, Q58DN3, Q5R9S6, Q5RAP3, Q61451, Q80WR1, Q8WMQ3, Q96FV3, Q96SJ8, Q9D1D1, Q9D7W4, Q9DCK3, Q9JJW1, Q9QZA6, A0A8M2B5N2, A0A8V0ZLT4, B0BM39, B3VSC2, H2L006, O75954, O97703

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
SP1	“up-regulates quantity by expression”	CD151	“transcriptional regulation”

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 57 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
Laminin interactions	5	56.0×	6e-06
Non-integrin membrane-ECM interactions	5	22.7×	2e-04
Extracellular matrix organization	8	14.8×	6e-06
Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell	5	12.8×	2e-03
Signaling by Receptor Tyrosine Kinases	5	7.6×	8e-03
Hemostasis	6	6.4×	7e-03
Neutrophil degranulation	7	4.8×	9e-03

GO biological processes:

GO term	Partners	Fold	FDR
receptor internalization	5	31.8×	7e-05
integrin-mediated signaling pathway	7	22.0×	1e-05
cell-matrix adhesion	5	16.0×	9e-04
protein localization to plasma membrane	6	12.8×	6e-04
cell-cell adhesion	6	11.9×	8e-04
cell adhesion	8	5.9×	2e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

245 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	2
Likely pathogenic	4
Uncertain significance	118
Likely benign	73
Benign	23

Top pathogenic / likely-pathogenic (6)

Variant ID	HGVS	Classification
7380	NM_004357.5(CD151):c.382dup (p.Asp128fs)	Pathogenic
982562	NM_004357.5(CD151):c.19A>T (p.Lys7Ter)	Pathogenic
3574085	NM_004357.5(CD151):c.203dup (p.Thr69fs)	Likely pathogenic
3574089	NM_004357.5(CD151):c.276+1G>T	Likely pathogenic
3574091	NM_004357.5(CD151):c.277-2A>C	Likely pathogenic
982563	NM_004357.5(CD151):c.622_630del (p.Cys208_Thr210del)	Likely pathogenic

SpliceAI

1823 predictions. Top by Δscore:

Variant	Effect	Δscore
11:833023:GTAG:G	donor_gain	1.0000
11:836061:A:AG	acceptor_gain	1.0000
11:836062:G:GG	acceptor_gain	1.0000
11:836152:GG:G	donor_gain	1.0000
11:836153:GG:G	donor_gain	1.0000
11:836246:TGTA:T	acceptor_loss	1.0000
11:836247:GTAG:G	acceptor_loss	1.0000
11:836248:TAGCT:T	acceptor_loss	1.0000
11:836249:A:AG	acceptor_gain	1.0000
11:836249:AGC:A	acceptor_loss	1.0000
11:836249:AGCT:A	acceptor_gain	1.0000
11:836249:AGCTG:A	acceptor_gain	1.0000
11:836250:G:GG	acceptor_gain	1.0000
11:836250:GCT:G	acceptor_gain	1.0000
11:836250:GCTG:G	acceptor_gain	1.0000
11:836250:GCTGG:G	acceptor_gain	1.0000
11:836360:T:TA	donor_gain	1.0000
11:836361:G:GA	donor_gain	1.0000
11:836448:G:GT	donor_gain	1.0000
11:836449:A:T	donor_gain	1.0000
11:836451:G:GT	donor_gain	1.0000
11:836767:A:AG	acceptor_gain	1.0000
11:836768:G:GA	acceptor_gain	1.0000
11:836840:GCAG:G	donor_gain	1.0000
11:836841:CAGG:C	donor_loss	1.0000
11:836842:AGG:A	donor_loss	1.0000
11:836843:GGTG:G	donor_loss	1.0000
11:836844:G:C	donor_loss	1.0000
11:836845:T:A	donor_loss	1.0000
11:837242:A:AG	acceptor_gain	1.0000

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000219575 (11:832081 GAATACAGGGA>G), RS1000227600 (11:835705 T>A), RS1001136902 (11:836569 G>C,T), RS1001675877 (11:833361 C>G), RS1002262116 (11:832032 G>A), RS1002286769 (11:834438 A>C,G,T), RS1002331464 (11:838034 G>T), RS1002408331 (11:835936 C>T), RS1002564899 (11:838345 C>T), RS1002657506 (11:832264 C>A,T), RS1003031623 (11:834719 A>C,G), RS1003043139 (11:834583 G>A,T), RS1003169988 (11:835445 T>C), RS1003300423 (11:838962 C>A), RS1003364276 (11:835492 T>A,C,G)

Disease associations

OMIM: gene MIM:602243 | disease phenotypes: MIM:609057

GenCC curated gene-disease

Disease	Classification	Inheritance
epidermolysis bullosa simplex 7, with nephropathy and deafness	Strong	Autosomal recessive

Mondo (1): epidermolysis bullosa simplex 7, with nephropathy and deafness (MONDO:0012190)

Orphanet (1): Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome (Orphanet:300333)

HPO phenotypes

9 total (9 of 9 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000123	Nephritis
HP:0000407	Sensorineural hearing impairment
HP:0003774	Stage 5 chronic kidney disease
HP:0004722	Thickened glomerular basement membrane
HP:0007678	Lacrimal duct stenosis
HP:0008404	Nail dystrophy
HP:0012221	Pretibial blistering
HP:0033485	Glomerular basement membrane disruption

GWAS associations

3 associations (top):

Study	Trait	p-value
GCST004599_15	Mean platelet volume	8.000000e-09
GCST90002395_45	Mean platelet volume	1.000000e-27
GCST90002402_335	Platelet count	5.000000e-10

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004309	platelet count

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
C563798	Nephropathy with Pretibial Epidermolysis Bullosa and Deafness (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

40 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Cadmium Chloride	decreases reaction, increases abundance, increases palmitoylation, decreases expression, increases expression	3
bisphenol A	affects expression, affects cotreatment, increases methylation, decreases methylation	2
sodium arsenite	increases expression, affects cotreatment, decreases expression, increases abundance	2
Arsenic	increases abundance, increases methylation, affects cotreatment, decreases expression	2
Tetrachlorodibenzodioxin	decreases expression, increases expression	2
Tobacco Smoke Pollution	increases expression	2
aristolochic acid I	decreases expression	1
bisphenol F	increases expression	1
testosterone enanthate	affects expression	1
triphenyl phosphate	affects expression	1
beta-lapachone	increases expression	1
cobaltous chloride	decreases expression	1
2-bromopalmitate	increases abundance, increases palmitoylation, decreases reaction	1
beta-methylcholine	affects expression	1
di-n-butylphosphoric acid	affects expression	1
K 7174	increases expression	1
cyclo(leucyl-prolyl)	affects binding, decreases reaction, decreases expression	1
ICG 001	increases expression	1
MT19c compound	decreases expression	1
Sunitinib	decreases expression	1
Fulvestrant	affects cotreatment, increases methylation	1
Acetaminophen	increases expression	1
Air Pollutants	decreases expression, increases abundance	1
Arbutin	decreases expression	1
Aspirin	decreases expression	1
Benzo(a)pyrene	increases methylation	1
Cadmium	decreases reaction, increases abundance, increases palmitoylation	1
Cannabidiol	decreases expression	1
Carmustine	decreases expression	1
Cisplatin	decreases response to substance	1

Cellosaurus cell lines

1 cell lines: 1 spontaneously immortalized cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_C4BD	NIH 3T3/pL2neoSRalphaIIISFA-1	Spontaneously immortalized cell line	Male

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.