LongevityMap Gene
Gene details
- HGNC symbol
- FAT4
- Aliases
- FATJ; FAT-J; CDHF14; CDHR11; HKLLS2; VMLDS2; NBLA00548
- Common name
- FAT atypical cadherin 4
- Description
- The protein encoded by this gene is a member of the protocadherin family. This gene may play a role in regulating planar cell polarity (PCP). Studies in mice suggest that loss of PCP signaling may cause cystic kidney disease, and mutations in this gene have been associated with Van Maldergem Syndrome 2. Alternatively spliced transcript variants have been noted for this gene. [provided by RefSeq, Mar 2014]
- Cytogenetic Location
- 4q28.1
- UCSC Genome Browser
- View 4q28.1 on the UCSC genome browser
- OMIM
- 612411
- Ensembl
- ENSG00000196159
- UniProt/Swiss-Prot
- B3KU84_HUMAN
- Entrez Gene
- 79633
- UniGene
- 563205
- 1000 Genomes
- 1000 Genomes
Homologs in model organisms
- Danio rerio
- CABZ01069287.1
- Drosophila melanogaster
- ft
- Mus musculus
- Fat4
- Rattus norvegicus
- Fat4
Studies (1)
Significant/Non-significant: 0/1
- Longevity Association
- Non-significant
- Population
- American, English, Irish
- Study Design
- 10 late-onset Alzheimer's disease genes were tested for association with human aging in the dataset (1385 samples with documented age at death, age range: 58–108 years; mean age at death: 80.2 years) using the most significant SNPs found in the previous studies. A set of 41 tentative SNPs span the genome were identified in this study.
- Conclusions
- Some signals were at best tentative but may merit study in larger sample sets
- Indentifier
- rs2710548
- Reference