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

Gene ID: 3386, updated on 21-Apr-2019

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
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

Genomic context

See ICAM4 in Genome Data Viewer
Location:
19p13.2
Exon count:
3
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 19 NC_000019.10 (10286967..10288584)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (10397643..10399260)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene mitochondrial ribosomal protein L4 Neighboring gene uncharacterized LOC105372272 Neighboring gene intercellular adhesion molecule 1 Neighboring gene intercellular adhesion molecule 5 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 FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

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

NHGRI GWAS Catalog

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

  • Adaptive Immune System, organism-specific biosystem (from REACTOME)
    Adaptive Immune System, organism-specific biosystemAdaptive immunity refers to antigen-specific immune response efficiently involved in clearing the pathogens. The adaptive immune system is comprised of B and T lymphocytes that express receptors with...
  • Extracellular matrix organization, organism-specific biosystem (from REACTOME)
    Extracellular matrix organization, organism-specific biosystemThe extracellular matrix is a component of all mammalian tissues, a network consisting largely of the fibrous proteins collagen, elastin and associated-microfibrils, fibronectin and laminins embedded...
  • Immune System, organism-specific biosystem (from REACTOME)
    Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
  • Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell, organism-specific biosystem (from REACTOME)
    Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell, organism-specific biosystemA number of receptors and cell adhesion molecules play a key role in modifying the response of cells of lymphoid origin (such as B-, T- and NK cells) to self and tumor antigens, as well as to pathoge...
  • Integrin cell surface interactions, organism-specific biosystem (from REACTOME)
    Integrin cell surface interactions, organism-specific biosystemThe extracellular matrix (ECM) is a network of macro-molecules that underlies all epithelia and endothelia and that surrounds all connective tissue cells. This matrix provides the mechanical strength...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
cell-cell adhesion IEA
Inferred from Electronic Annotation
more info
 
extracellular matrix organization TAS
Traceable Author Statement
more info
 
regulation of immune response TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
extracellular region IEA
Inferred from Electronic Annotation
more info
 
integral component of membrane TAS
Traceable Author Statement
more info
PubMed 
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
intercellular adhesion molecule 4 (LW blood group)

NCBI Reference Sequences (RefSeq)

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)

mRNA and Protein(s)

  1. NM_001039132.2NP_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)
    BC000046, BC029364, BX114065
    Consensus CDS
    CCDS32904.1
    UniProtKB/Swiss-Prot
    Q14773
    UniProtKB/TrEMBL
    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
    Q14773
    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: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p12 Primary Assembly

    Range
    10286967..10288584
    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.
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