FAT4

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; OMA:FAT4 - orthologs
Gene location (Human) Chr. Chromosome 4 (human) [1] Band 4q28.1 Start 125,314,918 bp [1] End 125,492,932 bp [1]
Gene location (Mouse) Chr. Chromosome 3 (mouse) [2] Band 3|3 B Start 38,941,089 bp [2] End 39,066,134 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in Achilles tendon stromal cell of endometrium periodontal fiber epithelium of colon mucosa of paranasal sinus Descending thoracic aorta popliteal artery tibial arteries ventricular zone tibia Top expressed in hand internal carotid artery external carotid artery Gonadal ridge dermis vas deferens conjunctival fornix human fetus ascending aorta condyle More reference expression data BioGPS n/a
Gene ontology Molecular function protein binding calcium ion binding Cellular component integral component of membrane apical part of cell membrane intracellular anatomical structure plasma 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 cell stereocilium organization ossification involved in bone maturation hippo signaling 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: 125.31 – 125.49 Mb Chr 3: 38.94 – 39.07 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

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 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. Bibcode:2009PLoSO...4.4653C. 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.