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MCAM melanoma cell adhesion molecule [ Homo sapiens (human) ]

Gene ID: 4162, updated on 3-Apr-2024

Summary

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Official Symbol
MCAMprovided by HGNC
Official Full Name
melanoma cell adhesion moleculeprovided by HGNC
Primary source
HGNC:HGNC:6934
See related
Ensembl:ENSG00000076706 MIM:155735; AllianceGenome:HGNC:6934
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CD146; MUC18; HEMCAM; METCAM; MelCAM
Summary
Involved in glomerular filtration and vascular wound healing. Acts upstream of or within angiogenesis. Located in external side of plasma membrane. Biomarker of chronic obstructive pulmonary disease and uveal melanoma. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in fat (RPKM 237.1), placenta (RPKM 102.0) and 17 other tissues See more
Orthologs
mouse all
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Genomic context

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Location:
11q23.3
Exon count:
16
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (119308529..119317130, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (119329165..119337763, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (119179239..119187840, complement)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 11099 Neighboring gene small nucleolar RNA, C/D box 150 Neighboring gene dynein regulatory complex subunit 12 homolog Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3973 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3974 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3975 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3976 Neighboring gene fragile site, folic acid type, rare, fra(11)(q23.3) Neighboring gene Cbl proto-oncogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5627 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5628 Neighboring gene RNA, U6 small nuclear 262, pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:119177198-119177943 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:119185831-119186526 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3977 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5629 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:119191423-119192048 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:119192049-119192674 Neighboring gene microRNA 6756 Neighboring gene uncharacterized LOC124900316 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:119204879-119205770 Neighboring gene ring finger protein 26

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. CD146+ Endometrial-Derived Mesenchymal Stem/Stromal Cell Subpopulation Possesses Exosomal Secretomes with Strong Immunomodulatory miRNA Attributes. Leñero C, et al. Cells, 2022 Dec 10. PMID 36552765, Free PMC Article
  2. METCAM/MUC18 Plays a Tumor Suppressor Role in the Development of Nasopharyngeal Carcinoma Type I. Liu YC, et al. Int J Mol Sci, 2022 Nov 2. PMID 36362174, Free PMC Article
  3. CD146(+) Pericytes Subset Isolated from Human Micro-Fragmented Fat Tissue Display a Strong Interaction with Endothelial Cells: A Potential Cell Target for Therapeutic Angiogenesis. Manocha E, et al. Int J Mol Sci, 2022 May 22. PMID 35628617, Free PMC Article
  4. Soluble CD146 as a Potential Target for Preventing Triple Negative Breast Cancer MDA-MB-231 Cell Growth and Dissemination. Sharma A, et al. Int J Mol Sci, 2022 Jan 17. PMID 35055160, Free PMC Article
  5. Involvement of Multiple Variants of Soluble CD146 in Systemic Sclerosis: Identification of a Novel Profibrotic Factor. Nollet M, et al. Arthritis Rheumatol, 2022 Jun. PMID 35001552

See all (237) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. The role of CD146 in renal disease: from experimental nephropathy to clinics.
    Title: The role of CD146 in renal disease: from experimental nephropathy to clinics.
  2. CD146 promotes malignant progression of breast phyllodes tumor through suppressing DCBLD2 degradation and activating the AKT pathway.
    Title: CD146 promotes malignant progression of breast phyllodes tumor through suppressing DCBLD2 degradation and activating the AKT pathway.
  3. MCAM+ brain endothelial cells contribute to neuroinflammation by recruiting pathogenic CD4+ T lymphocytes.
    Title: MCAM+ brain endothelial cells contribute to neuroinflammation by recruiting pathogenic CD4+ T lymphocytes.
  4. Galphai1/3 mediate Netrin-1-CD146-activated signaling and angiogenesis.
    Title: Gαi1/3 mediate Netrin-1-CD146-activated signaling and angiogenesis.
  5. METCAM/MUC18 Plays a Tumor Suppressor Role in the Development of Nasopharyngeal Carcinoma Type I.
    Title: METCAM/MUC18 Plays a Tumor Suppressor Role in the Development of Nasopharyngeal Carcinoma Type I.
  6. CD146+ Endometrial-Derived Mesenchymal Stem/Stromal Cell Subpopulation Possesses Exosomal Secretomes with Strong Immunomodulatory miRNA Attributes.
    Title: CD146+ Endometrial-Derived Mesenchymal Stem/Stromal Cell Subpopulation Possesses Exosomal Secretomes with Strong Immunomodulatory miRNA Attributes.
  7. CD146 at the Interface between Oxidative Stress and the Wnt Signaling Pathway in Systemic Sclerosis.
    Title: CD146 at the Interface between Oxidative Stress and the Wnt Signaling Pathway in Systemic Sclerosis.
  8. Exosomal lncRNA PCAT1 Promotes Tumor Circulating Cell-Mediated Colorectal Cancer Liver Metastasis by Regulating the Activity of the miR-329-3p/Netrin-1-CD146 Complex.
    Title: Exosomal lncRNA PCAT1 Promotes Tumor Circulating Cell-Mediated Colorectal Cancer Liver Metastasis by Regulating the Activity of the miR-329-3p/Netrin-1-CD146 Complex.
  9. Overexpression of MCAM induced by SMYD2-H3K36me2 in breast cancer stem cell properties.
    Title: Overexpression of MCAM induced by SMYD2-H3K36me2 in breast cancer stem cell properties.
  10. The CD146-HIF-1alpha axis regulates epithelial cell migration and alveolar maturation in a mouse model of bronchopulmonary dysplasia.
    Title: The CD146-HIF-1α axis regulates epithelial cell migration and alveolar maturation in a mouse model of bronchopulmonary dysplasia.
Submit: New GeneRIF Correction See all GeneRIFs (180)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in anatomical structure morphogenesis TAS
Traceable Author Statement
more info
 PubMed 
involved_in angiogenesis IBA
Inferred from Biological aspect of Ancestor
more info
  
acts_upstream_of_or_within angiogenesis IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in cell adhesion IEA
Inferred from Electronic Annotation
more info
  
involved_in glomerular filtration IEP
Inferred from Expression Pattern
more info
 PubMed 
involved_in positive regulation of cell migration IEA
Inferred from Electronic Annotation
more info
  
involved_in vascular wound healing IEP
Inferred from Expression Pattern
more info
 PubMed 
Component Evidence Code Pubs
located_in external side of plasma membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in extracellular region HDA PubMed 
located_in extracellular space IEA
Inferred from Electronic Annotation
more info
  
located_in focal adhesion HDA PubMed 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
cell surface glycoprotein MUC18
Names
Gicerin
S-endo 1 endothelial-associated antigen
cell surface glycoprotein P1H12
melanoma adhesion molecule
melanoma-associated antigen A32
melanoma-associated antigen MUC18

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_006500.3 → NP_006491.2  cell surface glycoprotein MUC18 precursor

    See identical proteins and their annotated locations for NP_006491.2

    Status: VALIDATED

    Source sequence(s)
    AB209925, AP002956, AU076908, BC056418
    Consensus CDS
    CCDS31690.1
    UniProtKB/Swiss-Prot
    O95812, P43121, Q59E86, Q6PHR3, Q6ZTR2
    UniProtKB/TrEMBL
    B2R642
    Related
    ENSP00000264036.4, ENST00000264036.6
    Conserved Domains (3) summary
    pfam08205
    Location:139 → 234
    C2-set_2; CD80-like C2-set immunoglobulin domain
    pfam13927
    Location:261 → 321
    Ig_3; Immunoglobulin domain
    cl11960
    Location:450 → 510
    Ig; Immunoglobulin domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

    Range
    119308529..119317130 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017017762.3 → XP_016873251.1  cell surface glycoprotein MUC18 isoform X4

    UniProtKB/TrEMBL
    A8K6A6, B2R642

  2. XM_017017759.3 → XP_016873248.1  cell surface glycoprotein MUC18 isoform X1

    UniProtKB/TrEMBL
    A8K6A6, B2R642

  3. XM_017017760.3 → XP_016873249.1  cell surface glycoprotein MUC18 isoform X2

    UniProtKB/TrEMBL
    B2R642

  4. XM_017017761.3 → XP_016873250.1  cell surface glycoprotein MUC18 isoform X3

    UniProtKB/TrEMBL
    B2R642

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    119329165..119337763 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054368823.1 → XP_054224798.1  cell surface glycoprotein MUC18 isoform X4

  2. XM_054368820.1 → XP_054224795.1  cell surface glycoprotein MUC18 isoform X1

  3. XM_054368821.1 → XP_054224796.1  cell surface glycoprotein MUC18 isoform X2

  4. XM_054368822.1 → XP_054224797.1  cell surface glycoprotein MUC18 isoform X3

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P43121.2 GenPept UniProtKB/Swiss-Prot:P43121

Gene LinkOut

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