ITGB4

ITGB4

A gene on chromosome 17q25 that encodes an integrin beta chain protein (integrins are noncovalently associated transmembrane glycoprotein receptors, composed of alpha and beta chains). The beta chain encoded by ITGB4 usually associates with alpha 6, serving as a laminin receptor. It plays a key structural role in the hemidesmosomes, regulates keratinocyte polarity and motility and is a central player in the biology of invasive cancer.

Molecular pathology
ITGB4 mutations are associated with epidermolysis bullosa with pyloric atresia.
References in periodicals archive ?
Previous study suggested that many genes and signalling pathway are involved in early pregnancy, and some genes are essential for maintaining pregnancy, and the miscarriage was triggered by the dysfunction of these genes, such as cadherin 2 (CDH2), which is a gene of cell adhesion molecules (CAMs) [5]; collagen type VI alpha 3 chain (COL6A3), thrombospondin 1 (THBS1), fibronectin 1, integrin beta 4 (ITGB4) [6], which are all PI3KAkt signaling pathway genes; matrix metallopeptidase 14 (MMP14), vascular cell adhesion molecule 1 (VCAM1) [7], matrix metallopeptidase 9 (MMP9), which are all tumor necrosis factor (TNF) signaling pathway genes; additionally, MAPK signaling pathway [8] and Hippo signaling pathway [9] are involved in maintaining pregnancy.
Furthermore, 175 DEGs were identified at 21 d, and those genes are mainly distributed in 20 pathways, such as PI3K-Akt signalling pathway, tumour necrosis factor signalling pathway, MAPK signalling pathway, and Hippo signalling pathway, COL6A3, THBS1, fibronectin 1, and ITGB4 are all DEGs in PI3K-Akt signalling pathway at 21 d, and the expression profiles of COL6A3 suggested that it play an important role in pregnancy, and miscarriage was initiated by its abnormal expression [25].
JEB has a proven familial predisposition and is caused by mutations in the ITGA6, ITGB4, LAMA3, LAMB3, LAMC2, and COL17A1 genes [1].
Conversely, the ectopic expression of transactivating p63 (TAp63) or transactivating p73 (TAp73), two p53 family members, increased the promoter activity of ITGB4, which encodes integrin [beta]4.
showed that p53 GOF mutants increase the transcription of ITGB4, which encodes integrin [beta]4 [101].
TargetRank algorithm tested on putative regulations with r < -0.65 for PTC, r < -0.70 for fvPTC, and r < -0.80 for tcPTC has confirmed 4 putative miRNA regulatory pairs: hsamiR-146b-5p with PHKB and IRAK1; hsa-miR-874-3p with ITGB4 within cPTC samples (Table 1, Figure 3).
According to our integrative analysis we report four new regulations in PTC: hsa-miR-146b-5p regulating PHKB (phosphorylase kinase, beta), hsa-miR-146b-5p regulating IRAK1 (interleukin-1 receptor-associated kinase 1) and hsamiR-874-3p regulating ITGB4 (integrin, beta 4) in cPTC samples, and hsa-miR-152-3p regulating TGFA (transforming growth factor, alpha) in fvPTC samples.
Suzuki et al., "ITGA3 and ITGB4 expression biomarkers estimate the risks of locoregional and hematogenous dissemination of oral squamous cell carcinoma," BMC Cancer, vol.
Differential expression of pyloric atresia in junctional epidermolysis bullosa with ITGB4 mutations suggests that pyloric atresia is due to factors other than the mutations and not predictive of a poor outcome: three novel mutations and a review of the literature.
Genomics of Epidermolysis Bullosa EB Type Level of Blistering Genes Simplex Basal cell layer KRT5, KRT14 Hemidesmosomal Basal cell/lamina BPAG2, ITGB4, ITGA6 lucida interface (PLEC1 with muscular dystrophy) Junctional Lamina lucida LAMA3, LAMB3, LAMC2 Dystrophic Sublamina densa COL7A1 Source: Dr.
Genes ALDH1A1 (Hs00605167_g1), ABCG2 (Hs01053790_m1), AQP1 (Hs01028916_m1), CD31 (Hs01065279_m1), CD34 (Hs00990732_m 1), CD73 (Hs01573922_m1), CD90/THY1 (Hs00174816_m1), CXCR4 (Hs00607978_s1), ENG (CD105) (Hs00923996_m1), GPC4 (Hs00155059_m1), ITGAV (Hs00233808_m1), ITGB4 (Hs00236216_m1), KLF4 (Hs00358836_m1), Nestin (Hs00707120_s1), and Vimentin (Hs 00185584_m1) were used for the analyses.
(74) Eleven genes--COL1A2, COL6A1 (collagen), tPA, MMP9 (protease), CDH3, L1CAM, ITGB4, PLXNA3/PLXN3, KRT14/K14 (cell adhesion or cell surface molecule), SEMA3C (semaphorin), and CXCL10/INP10 (chemokine)--were overexpressed in MPM.