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    ICAM4 intercellular adhesion molecule 4 (Landsteiner-Wiener blood group) [ Homo sapiens (human) ]

    Gene ID: 3386, updated on 4-Dec-2023

    Summary

    Official Symbol
    ICAM4provided by HGNC
    Official Full Name
    intercellular adhesion molecule 4 (Landsteiner-Wiener blood group)provided by HGNC
    Primary source
    HGNC:HGNC:5347
    See related
    Ensembl:ENSG00000105371 MIM:614088; AllianceGenome:HGNC:5347
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    LW; CD242
    Summary
    This gene encodes the Landsteiner-Wiener (LW) blood group antigen(s) that belongs to the immunoglobulin (Ig) superfamily, and that shares similarity with the intercellular adhesion molecule (ICAM) protein family. This ICAM protein contains 2 Ig-like C2-type domains and binds to the leukocyte adhesion LFA-1 protein. The molecular basis of the LW(A)/LW(B) blood group antigens is a single aa variation at position 100; Gln-100=LW(A) and Arg-100=LW(B). Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]
    Expression
    Biased expression in lung (RPKM 3.3), bone marrow (RPKM 3.1) and 13 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See ICAM4 in Genome Data Viewer
    Location:
    19p13.2
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (10286955..10288520)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (10413067..10414632)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (10397631..10399196)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancers GRCh37_chr19:10362245-10362818 and GRCh37_chr19:10362819-10363392 Neighboring gene mitochondrial ribosomal protein L4 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13951 Neighboring gene lncRNA inflammatory and mucous response associated, antisense to ICAM1 Neighboring gene Sharpr-MPRA regulatory region 14536 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13952 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13953 Neighboring gene intercellular adhesion molecule 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:10397303-10398272 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13954 Neighboring gene ICAM4 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10061 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10062 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:10402483-10403475 Neighboring gene intercellular adhesion molecule 5 Neighboring gene CRISPRi-validated cis-regulatory element chr19.1775 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr19:10415538-10416737 Neighboring gene FDX2-ZGLP1 readthrough Neighboring gene zinc finger GATA like protein 1

    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?

    Phenotypes

    Associated conditions

    Description Tests
    Landsteiner-Wiener phenotype
    MedGen: C3887952 OMIM: 111250 GeneReviews: Not available
    not available

    EBI GWAS Catalog

    Description
    Genome-wide association analysis of soluble ICAM-1 concentration reveals novel associations at the NFKBIK, PNPLA3, RELA, and SH2B3 loci.
    EBI GWAS Catalog
    Large-scale genomic studies reveal central role of ABO in sP-selectin and sICAM-1 levels.
    EBI GWAS Catalog
    Novel association of ABO histo-blood group antigen with soluble ICAM-1: results of a genome-wide association study of 6,578 women.
    EBI GWAS Catalog

    HIV-1 interactions

    Replication interactions

    Interaction Pubs
    Knockdown of intercellular adhesion molecule 4 (ICAM4) by siRNA enhances the early stages of HIV-1 replication in HeLa-CD4 cells infected with viral pseudotypes HIV89.6R and HIV8.2N PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables integrin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Process Evidence Code Pubs
    involved_in cell adhesion IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in cell-cell adhesion IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    more info
     
    located_in membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    intercellular adhesion molecule 4
    Names
    CD242 antigen
    LW antigen a
    Landsteiner-Wiener blood group antigen a
    Landsteiner-Wiener blood group glycoprotein
    bloodgroup LW protein
    intercellular adhesion molecule 4 (LW blood group)

    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.

    Genomic

    1. NG_007728.1 RefSeqGene

      Range
      4982..6547
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_809

    mRNA and Protein(s)

    1. NM_001039132.3NP_001034221.1  intercellular adhesion molecule 4 isoform 3 precursor

      See identical proteins and their annotated locations for NP_001034221.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate splice site, which results in a frameshift compared to variant 1. The encoded isoform (3) has the same N-terminus but a distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AC011511, BC000046, BC029364, BX114065
      Consensus CDS
      CCDS32904.1
      UniProtKB/TrEMBL
      U5U3F7, U5U6J5, U5U6J9, U5U6P3, U5U6P8
      Related
      ENSP00000342114.3, ENST00000340992.4
      Conserved Domains (1) summary
      pfam03921
      Location:48131
      ICAM_N; Intercellular adhesion molecule (ICAM), N-terminal domain
    2. NM_001544.5NP_001535.1  intercellular adhesion molecule 4 isoform 1 precursor

      See identical proteins and their annotated locations for NP_001535.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes isoform 1.
      Source sequence(s)
      AC011511, BC029364, BX114065
      Consensus CDS
      CCDS12232.1
      UniProtKB/Swiss-Prot
      A0M8X2, Q14771, Q14772, Q14773, Q16375, Q9BWR0
      Related
      ENSP00000370147.2, ENST00000380770.5
      Conserved Domains (2) summary
      pfam03921
      Location:48131
      ICAM_N; Intercellular adhesion molecule (ICAM), N-terminal domain
      cl11960
      Location:132217
      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_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      10286955..10288520
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      10413067..10414632
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_022377.3: Suppressed sequence

      Description
      NM_022377.3: This RefSeq was removed because currently there is insufficient support for the transcript and the protein.