• Gene id: 4162

Gene Summary

• Gene Symbol: MCAM   Gene   UCSC   Ensembl
• Aliases: CD146, HEMCAM, METCAM, MUC18, MelCAM
• Gene name: melanoma cell adhesion molecule
• Alternate names: cell surface glycoprotein MUC18, Gicerin, S-endo 1 endothelial-associated antigen, cell surface glycoprotein P1H12, melanoma adhesion molecule, melanoma-associated antigen A32, melanoma-associated antigen MUC18,
• Gene location: 11q23.3 (119317129: 119305758)     Exons: 16     NC_000011.10
• OMIM: 607463

SNPs

rs17005650

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000004.12   g.122318633G>C
NC_000004.11   g.123239788G>C
NG_015813.2   g.153031G>C
NG_015813.1   g.153031G>C|SEQ=[G/C]|GENE=KIAA1109

Protein Summary

• Protein general information: P43121  
  • Name: Cell surface glycoprotein MUC18 (Cell surface glycoprotein P1H12) (Melanoma cell adhesion molecule) (Melanoma associated antigen A32) (Melanoma associated antigen MUC18) (S endo 1 endothelial associated antigen) (CD antigen CD146)
  • Length: 646  
  • Mass: 71607
  • Tissue specificity: Detected in endothelial cells in vascular tissue throughout the body. May appear at the surface of neural crest cells during their embryonic migration. Appears to be limited to vascular smooth muscle in normal adult tissues. Associated
• Sequence:

  MGLPRLVCAFLLAACCCCPRVAGVPGEAEQPAPELVEVEVGSTALLKCGLSQSQGNLSHVDWFSVHKEKRTLIFR
  VRQGQGQSEPGEYEQRLSLQDRGATLALTQVTPQDERIFLCQGKRPRSQEYRIQLRVYKAPEEPNIQVNPLGIPV
  NSKEPEEVATCVGRNGYPIPQVIWYKNGRPLKEEKNRVHIQSSQTVESSGLYTLQSILKAQLVKEDKDAQFYCEL
  NYRLPSGNHMKESREVTVPVFYPTEKVWLEVEPVGMLKEGDRVEIRCLADGNPPPHFSISKQNPSTREAEEETTN
  DNGVLVLEPARKEHSGRYECQGLDLDTMISLLSEPQELLVNYVSDVRVSPAAPERQEGSSLTLTCEAESSQDLEF
  QWLREETGQVLERGPVLQLHDLKREAGGGYRCVASVPSIPGLNRTQLVNVAIFGPPWMAFKERKVWVKENMVLNL
  SCEASGHPRPTISWNVNGTASEQDQDPQRVLSTLNVLVTPELLETGVECTASNDLGKNTSILFLELVNLTTLTPD
  SNTTTGLSTSTASPHTRANSTSTERKLPEPESRGVVIVAVIVCILVLAVLGAVLYFLYKKGKLPCRRSGKQEITL
  PPSRKSELVVEVKSDKLPEEMGLLQGSSGDKRAPGDQGEKYIDLRH

• Structural information:
  • Protein Domains: (24..12-)
    1 (/note="Ig-like-V-type)
    (139..24-)
    2 (/note="Ig-like-V-type)
    (244..33-)
    1 (/note="Ig-like-C2-type)
    (335..42-)
    2 (/note="Ig-like-C2-type)
    (430..51-)
    3" (/note="Ig-like-C2-type)
  • Interpro: IPR013162  IPR007110  IPR036179  IPR013783  IPR003599   IPR003598  IPR013106  IPR013151  
  • Prosite: PS50835
  • DIP: 52791
  • STRING: ENSP00000264036
• Other Databases: GeneCards:  MCAM  Malacards:  MCAM

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0016021	integral component of membrane	IEA	cellular component
GO:0007155	cell adhesion	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	NAS	cellular component
GO:0007155	cell adhesion	TAS	biological process
GO:0009653	anatomical structure morphogenesis	TAS	biological process
GO:0001525	angiogenesis	IDA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0030335	positive regulation of cell migration	IEA	biological process
GO:0005615	extracellular space	IEA	cellular component
GO:0005576	extracellular region	HDA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0009897	external side of plasma membrane	IDA	cellular component
GO:0005925	focal adhesion	HDA	cellular component
GO:0061042	vascular wound healing	IEP	biological process
GO:0003094	glomerular filtration	IEP	biological process

Diseases

Associated diseases	References
Chronic obstructive pulmonary disease	PMID:23649916
Uveal melanoma	PMID:19958117
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R