FAT4

Protocadherin Fat 4, also known as cadherin family member 14 (CDHF14) or FAT tumor suppressor homolog 4 (FAT4), is a protein that in humans is encoded by the FAT4 gene.[5][6]

FAT4
Identifiers
Aliases	FAT4, CDHF14, CDHR11, FAT-J, FATJ, NBLA00548, VMLDS2, HKLLS2, FAT atypical cadherin 4
External IDs	OMIM: 612411 MGI: 3045256 HomoloGene: 14377 GeneCards: FAT4
Gene location (Human) Chr. Chromosome 4 (human)[1] Band 4q28.1 Start 125,316,399 bp[1] End 125,492,932 bp[1]
Gene location (Mouse) Chr. Chromosome 3 (mouse)[2] Band 3|3 B Start 38,886,940 bp[2] End 39,011,985 bp[2]
Gene ontology Molecular function • GO:0001948 protein binding • calcium ion binding Cellular component • integral component of membrane • apical part of cell • membrane • intracellular • cell membrane • extracellular exosome Biological process • cerebral cortex development • heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules • homophilic cell adhesion via plasma membrane adhesion molecules • neurogenesis • heart morphogenesis • regulation of metanephric nephron tubule epithelial cell differentiation • kidney development • plasma membrane organization • digestive tract development • inner ear receptor stereocilium organization • ossification involved in bone maturation • Hippo signaling pathway • branching involved in ureteric bud morphogenesis • cell adhesion • nephron development • fibroblast growth factor receptor signaling pathway • Notch signaling pathway • condensed mesenchymal cell proliferation • cell-cell adhesion Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	79633	329628
Ensembl	ENSG00000196159	ENSMUSG00000046743
UniProt	Q6V0I7	Q2PZL6
RefSeq (mRNA)	NM_001291285 NM_001291303 NM_024582	NM_183221
RefSeq (protein)	NP_001278214 NP_001278232 NP_078858 NP_001278214.1 NP_001278232.1	NP_899044
Location (UCSC)	Chr 4: 125.32 – 125.49 Mb	Chr 3: 38.89 – 39.01 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

FAT4 is associated with the Hippo signaling pathway.[7]

Clinical significance

Mutations in FAT4 are associated to Hennekam syndrome.[8]

References

1. GRCh38: Ensembl release 89: ENSG00000196159 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000046743 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. "Entrez Gene: FAT tumor suppressor homolog 4 (Drosophila)".
6. Höng JC, Ivanov NV, Hodor P, Xia M, Wei N, Blevins R, Gerhold D, Borodovsky M, Liu Y (March 2004). "Identification of new human cadherin genes using a combination of protein motif search and gene finding methods". J. Mol. Biol. 337 (2): 307–17. doi:10.1016/j.jmb.2004.01.026. PMID 15003449.
7. Qi C, Zhu YT, Hu L, Zhu YJ (February 2009). "Identification of Fat4 as a candidate tumor suppressor gene in breast cancers". Int. J. Cancer. 124 (4): 793–8. doi:10.1002/ijc.23775. PMC 2667156. PMID 19048595.
8. Alders, M; Al-Gazali, L; Cordeiro, I; Dallapiccola, B; Garavelli, L; Tuysuz, B; Salehi, F; Haagmans, M. A.; Mook, O. R.; Majoie, C. B.; Mannens, M. M.; Hennekam, R. C. (2014). "Hennekam syndrome can be caused by FAT4 mutations and be allelic to Van Maldergem syndrome". Human Genetics. 133 (9): 1161–1167. doi:10.1007/s00439-014-1456-y. PMID 24913602. S2CID 14414158.

Further reading

• Katoh Y, Katoh M (2006). "Comparative integromics on FAT1, FAT2, FAT3 and FAT4". Int. J. Mol. Med. 18 (3): 523–8. doi:10.3892/ijmm.18.3.523. PMID 16865240.
• Caporaso N, Gu F, Chatterjee N, et al. (2009). Reitsma PH (ed.). "Genome-wide and candidate gene association study of cigarette smoking behaviors". PLOS ONE. 4 (2): e4653. doi:10.1371/journal.pone.0004653. PMC 2644817. PMID 19247474.
• Liu Y, Blackwood DH, Caesar S, et al. (2010). "Meta-analysis of genome-wide association data of bipolar disorder and major depressive disorder". Molecular Psychiatry. 16 (1): 2–4. doi:10.1038/mp.2009.107. PMC 3883627. PMID 20351715.
• Need AC, Attix DK, McEvoy JM, et al. (2009). "A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB". Hum. Mol. Genet. 18 (23): 4650–61. doi:10.1093/hmg/ddp413. PMC 2773267. PMID 19734545.
• Rose JE, Behm FM, Drgon T, et al. (2010). "Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score". Mol. Med. 16 (7–8): 247–53. doi:10.2119/molmed.2009.00159. PMC 2896464. PMID 20379614.
• Ballif BA, Villén J, Beausoleil SA, et al. (2004). "Phosphoproteomic analysis of the developing mouse brain". Mol. Cell. Proteomics. 3 (11): 1093–101. doi:10.1074/mcp.M400085-MCP200. PMID 15345747.
• Johnson AD, Kavousi M, Smith AV, et al. (2009). "Genome-wide association meta-analysis for total serum bilirubin levels". Hum. Mol. Genet. 18 (14): 2700–10. doi:10.1093/hmg/ddp202. PMC 2701336. PMID 19414484.
• Lim J, Hao T, Shaw C, et al. (2006). "A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration". Cell. 125 (4): 801–14. doi:10.1016/j.cell.2006.03.032. PMID 16713569. S2CID 13709685.