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

Gene ID: 4162, updated on 9-Dec-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, Dec 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

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
  • 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)

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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_006500.3NP_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

    UniProtKB/TrEMBL
    A8K6A6, B2R642
  2. XM_054368820.1XP_054224795.1  cell surface glycoprotein MUC18 isoform X1

    UniProtKB/TrEMBL
    A8K6A6, B2R642
  3. XM_054368821.1XP_054224796.1  cell surface glycoprotein MUC18 isoform X2

    UniProtKB/TrEMBL
    B2R642
  4. XM_054368822.1XP_054224797.1  cell surface glycoprotein MUC18 isoform X3

    UniProtKB/TrEMBL
    B2R642