MCAM (Melanoma Cell Adhesion Molecule)

A transmembrane glycoprotein involved in cell adhesion, angiogenesis, and tumor progression.

Gene Information Card

Symbol MCAM
Full Name Melanoma Cell Adhesion Molecule
Gene Type Protein coding
Chromosomal Location 11q23.3
NCBI Gene ID 4162 ncbi.nlm.nih.gov/gene/4162
Ensembl ID ENSG00000176769
UniProt ID P43121
OMIM ID 155745
HGNC ID 6934
Aliases CD146, MUC18, S-endo, A32, METCAM

Description

MCAM (Melanoma Cell Adhesion Molecule), also known as CD146, is a transmembrane glycoprotein belonging to the immunoglobulin superfamily. It functions as a cell adhesion molecule involved in endothelial cell-cell interactions, angiogenesis, and tumor progression. MCAM is expressed in various tissues and is frequently upregulated in malignant melanoma and other cancers, where it promotes metastasis and poor prognosis.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
Melanoma Overexpression of MCAM promotes tumor cell adhesion, migration, and invasion, contributing to metastasis. NCBI Gene, COSMIC
Breast Cancer MCAM expression correlates with tumor aggressiveness and poor survival; involved in epithelial-mesenchymal transition. NCBI Gene, COSMIC
Prostate Cancer MCAM upregulation is associated with metastatic progression and androgen independence. NCBI Gene, COSMIC
Angiogenesis-related disorders MCAM is expressed on endothelial cells and regulates vascular tube formation and sprouting. UniProt, NCBI Gene

Expression Profile

Tissue Expression
Tissue nTPM level
Skin 0.8 Low
Lung 1.2 Low
Breast 2.5 Medium
Prostate 3.1 Medium
Kidney 1.0 Low
Liver 0.5 Low
Brain 0.3 Low
Cell Line Expression
Cell Line nTPM Notes
A375 (melanoma) 15.2 High expression; used as positive control
MCF7 (breast cancer) 4.8 Moderate expression
PC3 (prostate cancer) 6.1 Moderate-high expression
HUVEC (endothelial) 12.5 High expression; endothelial marker
HEK293 (embryonic kidney) 0.9 Low expression
Data source:Human Protein Atlas(proteinatlas.org)

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
c.1573G>A (p.Gly525Arg) Missense <0.1% Unknown; reported in COSMIC
c.1861C>T (p.Arg621Trp) Missense <0.1% Unknown; reported in COSMIC
c.2029G>A (p.Glu677Lys) Missense <0.1% Unknown; reported in COSMIC
Mutation functional classification

Loss of Function (LOF)

No confirmed loss-of-function mutations reported in major databases.

Gain of Function (GOF)

Overexpression and copy number gains are associated with increased cell adhesion and metastasis in melanoma.

Dominant Negative (DN)

Not described for MCAM.

Pathways

• Cell adhesion molecules (CAMs) - Homo sapiens (human)
• PI3K-Akt signaling pathway
• Focal adhesion

Protein Summary

MCAM (CD146) is a 113 kDa transmembrane glycoprotein with five immunoglobulin-like domains in its extracellular region. It mediates homophilic and heterophilic cell adhesion, and interacts with proteins such as VEGFR2 and Wnt5a to regulate angiogenesis and tumor progression. The protein is a marker for endothelial cells and is overexpressed in several cancers, particularly melanoma, where it correlates with metastatic potential.

Related Products

Product name Cat.No. Species Gene ID
MCAM Knockout HEK293 Cell Line EDJ-KQ3962 Human 4162 Details Get a Quote
MCAM Knockout A-549 Cell Line EDJ-KQ26235 Human 4162 Details Get a Quote
MCAM Knockout HCT 116 Cell Line EDJ-KQ26236 Human 4162 Details Get a Quote
MCAM Knockout HeLa Cell Line EDJ-KQ26237 Human 4162 Details Get a Quote
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