FAT4
Developmental stage
In embryos at 9 weeks the strongest expression is detected in the apical neuroepithelium, with weaker staining being present in the subventricular zone and within the cortical plate.
Function
Cadherins are calcium-dependent cell adhesion proteins. FAT4 plays a role in the maintenance of planar cell polarity as well as in inhibition of YAP1-mediated neuroprogenitor cell proliferation and differentiation (By similarity).
Involvement in disease
Van Maldergem syndrome 2
VMLDS2
An autosomal recessive disorder characterized by intellectual disability, typical craniofacial features, auditory malformations resulting in hearing loss, and skeletal and limb malformations. Some patients have renal hypoplasia. Brain MRI typically shows periventricular nodular heterotopia.
None
The disease is caused by variants affecting the gene represented in this entry.
Hennekam lymphangiectasia-lymphedema syndrome 2
HKLLS2
A form of Hennekam lymphangiectasia-lymphedema syndrome, a generalized lymph-vessels dysplasia characterized by intestinal lymphangiectasia with severe lymphedema of the limbs, genitalia and face. In addition, affected individuals have unusual facies and some manifest intellectual disability. HKLLS2 individuals have lymphangiectasia variably affecting the gut, pericardium, lungs, kidneys, and genitalia. Other features include camptodactyly and rare syndactyly. HKLLS2 inheritance is autosomal recessive.
None
The disease is caused by variants affecting the gene represented in this entry.
Tissue Specificity
Widely expressed. Expressed in fetal brain, infant brain, brain tumor and colorectal cancer.
Cellular localization
- Membrane
- Single-pass type I membrane protein
- In the kidney, localizes to primary cilia.
Alternative names
CDHF14, FATJ, Nbla00548, FAT4, Protocadherin Fat 4, hFat4, Cadherin family member 14, FAT tumor suppressor homolog 4, Fat-like cadherin protein FAT-J