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

    Gene ID: 4162, updated on 3-Nov-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, Nov 2024]
    Expression
    Broad expression in fat (RPKM 237.1), placenta (RPKM 102.0) and 17 other tissues See more
    Orthologs
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    Genomic context

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    See MCAM in Genome Data Viewer
    Location:
    11q23.3
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (119308529..119317130, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (119329165..119337763, complement)
    RS_2024_09 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 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. Expression of the melanoma cell adhesion molecule in human mesenchymal stromal cells regulates proliferation, differentiation, and maintenance of hematopoietic stem and progenitor cells. Stopp S, et al. Haematologica, 2013 Apr. PMID 22801967, Free PMC Article
    2. CD146 expression on mesenchymal stem cells is associated with their vascular smooth muscle commitment. Espagnolle N, et al. J Cell Mol Med, 2014 Jan. PMID 24188055, Free PMC Article
    3. The relationship between early atherosclerosis and endothelial dysfunction in type 1 diabetic patients as evidenced by measurement of carotid intima-media thickness and soluble CD146 levels: a cross sectional study. Ciftci Dogansen S, et al. Cardiovasc Diabetol, 2013 Oct 18. PMID 24139427, Free PMC Article
    4. MCAM expression is associated with poor prognosis in non-small cell lung cancer. Zhang X, et al. Clin Transl Oncol, 2014 Feb. PMID 23749325
    5. Relationship of CD146 expression to activation of circulating T cells: exploratory studies in healthy donors and patients with connective tissue diseases. Hadjinicolaou AV, et al. Clin Exp Immunol, 2013 Oct. PMID 23738744, Free PMC Article

    See all (248) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Netrin-1-CD146 and netrin-1-S100A9 are associated with early stage of lymph node metastasis in colorectal cancer.
      Title: Netrin-1-CD146 and netrin-1-S100A9 are associated with early stage of lymph node metastasis in colorectal cancer.
    2. CD146 Promotes EMT-Mediated Migration and Invasion of NSCLC via PI3K/Akt Signaling Pathway.
      Title: CD146 Promotes EMT-Mediated Migration and Invasion of NSCLC via PI3K/Akt Signaling Pathway.
    3. 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.
    4. 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.
    5. 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.
    6. Galphai1/3 mediate Netrin-1-CD146-activated signaling and angiogenesis.
      Title: Gαi1/3 mediate Netrin-1-CD146-activated signaling and angiogenesis.
    7. 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.
    8. 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.
    9. 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.
    10. 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.
    Submit: New GeneRIF Correction See all GeneRIFs (181)

    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

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    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_2024_08

    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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