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

    Gene ID: 4162, updated on 14-Nov-2024

    Summary

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables laminin receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    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 

    General protein information

    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)

    NEW Try the new Transcript table

    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_006500.3NP_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:139234
      C2-set_2; CD80-like C2-set immunoglobulin domain
      pfam13927
      Location:261321
      Ig_3; Immunoglobulin domain
      cl11960
      Location:450510
      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_017017762.3XP_016873251.1  cell surface glycoprotein MUC18 isoform X4

      UniProtKB/TrEMBL
      A8K6A6, B2R642
    2. XM_017017759.3XP_016873248.1  cell surface glycoprotein MUC18 isoform X1

      UniProtKB/TrEMBL
      A8K6A6, B2R642
    3. XM_017017760.3XP_016873249.1  cell surface glycoprotein MUC18 isoform X2

      UniProtKB/TrEMBL
      B2R642
    4. XM_017017761.3XP_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_054368823.1XP_054224798.1  cell surface glycoprotein MUC18 isoform X4

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

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

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