FERMT3
Domain
The FERM domain is not correctly detected by PROSITE or Pfam techniques because it contains the insertion of a PH domain.
Function
Plays a central role in cell adhesion in hematopoietic cells (PubMed:19234463, PubMed:26359933). Acts by activating the integrin beta-1-3 (ITGB1, ITGB2 and ITGB3) (By similarity). Required for integrin-mediated platelet adhesion and leukocyte adhesion to endothelial cells (PubMed:19234460). Required for activation of integrin beta-2 (ITGB2) in polymorphonuclear granulocytes (PMNs) (By similarity).
Isoform 2 may act as a repressor of NF-kappa-B and apoptosis.
Involvement in disease
Leukocyte adhesion deficiency 3
LAD3
A disorder characterized by recurrent bacterial infections without pus formation, leukocytosis and major bleeding disorders.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the kindlin family.
Tissue Specificity
Highly expressed in lymph node. Expressed in thymus, spleen and leukocytes. Weakly expressed in placenta, small intestine, stomach, testis and lung. Overexpressed in B-cell malignancies.
Cellular localization
- Cell projection
- Podosome
- Present in the F-actin surrounding ring structure of podosomes, which are specialized adhesion structures of hematopoietic cells.
Alternative names
KIND3, MIG2B, URP2, FERMT3, Fermitin family homolog 3, Kindlin-3, MIG2-like protein, Unc-112-related protein 2