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GenoLensGenoLens

ITGAM

Chr 16p11.2

integrin subunit alpha M

Aliases:
HNA-4, MAC-1, CD11b
MANE:
ENST00000544665.9

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

  • COVID-19 research

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Primary immunodeficiency or monogenic inflammatory bowel disease

    Unknown

Disease associations (Open Targets)

  • systemic lupus erythematosus

    0.42
  • autoimmune disorder of musculoskeletal system

    0.28
  • hearing loss disorder

    0.18
  • IgA glomerulonephritis

    0.16
  • cutaneous lupus erythematosus

    0.13
  • neoplasm

    0.12
  • Sepsis

    0.12
  • infection

    0.12
  • acute myeloid leukemia

    0.12
  • cancer

    0.11

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Integrin alpha-M

Integrin ITGAM/ITGB2 is implicated in various adhesive interactions of monocytes, macrophages and granulocytes as well as in mediating the uptake of complement-coated particles and pathogens (PubMed:20008295, PubMed:9558116). It is identical with CR-3, the receptor for the iC3b fragment of the third complement component. It probably recognizes the R-G-D peptide in C3b. Integrin ITGAM/ITGB2 is also a receptor for fibrinogen and factor X. It recognizes P1 and P2 peptides of fibrinogen gamma chain. Regulates neutrophil migration (PubMed:28807980). In association with beta subunit ITGB2/CD18, required for CD177-PRTN3-mediated activation of TNF primed neutrophils (PubMed:21193407). Integrin ITGAM/ITGB2 is also a receptor for ICAM1 ligand ensuring adhesion between stimulated neutrophils and stimulated endothelial cells (PubMed:1980124). May regulate phagocytosis-induced apoptosis in extravasated neutrophils (By similarity). May play a role in mast cell development (By similarity). Required with TYROBP/DAP12 in microglia to control production of microglial superoxide ions which promote the neuronal apoptosis that occurs during brain development (By similarity)

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.