FAT4 FAT atypical cadherin 4
Gene ID: 79633, updated on 4-Jan-2025Gene type: protein coding
Also known as: FATJ; FAT-J; CDHF14; CDHR11; HKLLS2; VMLDS2; NBLA00548
- See all available tests in GTR for this gene
- Go to complete Gene record for FAT4
- Go to Variation Viewer for FAT4 variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB. GeneReviews: Not available | |
| Hennekam lymphangiectasia-lymphedema syndrome 2 | See labs |
| Meta-analysis of genome-wide association data of bipolar disorder and major depressive disorder. GeneReviews: Not available | |
| Van Maldergem syndrome 2 | See labs |
Genomic context
- Location:
- 4q28.1
- Sequence:
- Chromosome: 4; NC_000004.12 (125314955..125492932)
- Total number of exons:
- 17
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for FAT4 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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