FAT4

FAT4
Identifiers
Aliases	FAT4, CDHF14, CDHR11, FAT-J, FATJ, NBLA00548, VMLDS2, HKLLS2, FAT atypical cadherin 4
External IDs	OMIM: 612411; MGI: 3045256; GeneCards: FAT4
Gene location (Human)
Chr.	Chromosome 4 (human)
End	125,492,932 bp
Gene location (Mouse)
Chr.	Chromosome 3 (mouse)
End	39,066,134 bp
RNA expression pattern
	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
	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
Databases	NCBI: entry; OMA: entry
	79633
	329628
	ENSG00000196159
	ENSMUSG00000046743
	Q6V0I7
	Q2PZL6
	NM_001291285; NM_001291303; NM_024582
	NM_183221
	NP_001278214; NP_001278232; NP_078858; NP_001278214.1; NP_001278232.1
	NP_899044
	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 2 3 GRCh38: Ensembl release 89: ENSG00000196159 – Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000046743 – Ensembl, May 2017
↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Entrez Gene: FAT tumor suppressor homolog 4 (Drosophila)".
↑ Höng JC, Ivanov NV, Hodor P, Xia M, Wei N, Blevins R, et al. (March 2004). "Identification of new human cadherin genes using a combination of protein motif search and gene finding methods". Journal of Molecular Biology. 337 (2): 307–317. doi:10.1016/j.jmb.2004.01.026. PMID 15003449.
↑ Qi C, Zhu YT, Hu L, Zhu YJ (February 2009). "Identification of Fat4 as a candidate tumor suppressor gene in breast cancers". International Journal of Cancer. 124 (4): 793–798. doi:10.1002/ijc.23775. PMC 2667156. PMID 19048595.
↑ Alders M, Al-Gazali L, Cordeiro I, Dallapiccola B, Garavelli L, Tuysuz B, et al. (September 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.

Katoh Y, Katoh M (2006). "Comparative integromics on FAT1, FAT2, FAT3 and FAT4". International Journal of Molecular Medicine. 18 (3): 523–528. doi:10.3892/ijmm.18.3.523. PMID 16865240.
Caporaso N, Gu F, Chatterjee N, Sheng-Chih J, Yu K, Yeager M, 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, de Geus EJ, Farmer A, Ferreira MA, et al. (January 2011). "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, Cirulli ET, Linney KL, Hunt P, et al. (December 2009). "A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB". Human Molecular Genetics. 18 (23): 4650–4661. doi:10.1093/hmg/ddp413. PMC 2773267. PMID 19734545.
Rose JE, Behm FM, Drgon T, Johnson C, Uhl GR (2010). "Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score". Molecular Medicine. 16 (7–8). Cambridge, Mass.: 247–253. doi:10.2119/molmed.2009.00159. PMC 2896464. PMID 20379614.
Ballif BA, Villén J, Beausoleil SA, Schwartz D, Gygi SP (November 2004). "Phosphoproteomic analysis of the developing mouse brain". Molecular & Cellular Proteomics. 3 (11): 1093–1101. doi:10.1074/mcp.M400085-MCP200. PMID 15345747.
Johnson AD, Kavousi M, Smith AV, Chen MH, Dehghan A, Aspelund T, et al. (July 2009). "Genome-wide association meta-analysis for total serum bilirubin levels". Human Molecular Genetics. 18 (14): 2700–2710. doi:10.1093/hmg/ddp202. PMC 2701336. PMID 19414484.
Lim J, Hao T, Shaw C, Patel AJ, Szabó G, Rual JF, et al. (May 2006). "A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration". Cell. 125 (4): 801–814. doi:10.1016/j.cell.2006.03.032. PMID 16713569. S2CID 13709685.

[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000196159 – Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 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.

[entrez-5] "Entrez Gene: FAT tumor suppressor homolog 4 (Drosophila)".

[Höng_2004-6] Höng JC, Ivanov NV, Hodor P, Xia M, Wei N, Blevins R, et al. (March 2004). "Identification of new human cadherin genes using a combination of protein motif search and gene finding methods". Journal of Molecular Biology. 337 (2): 307–317. doi:10.1016/j.jmb.2004.01.026. PMID 15003449.

[Qi_2009-7] Qi C, Zhu YT, Hu L, Zhu YJ (February 2009). "Identification of Fat4 as a candidate tumor suppressor gene in breast cancers". International Journal of Cancer. 124 (4): 793–798. doi:10.1002/ijc.23775. PMC 2667156. PMID 19048595.

[8] Alders M, Al-Gazali L, Cordeiro I, Dallapiccola B, Garavelli L, Tuysuz B, et al. (September 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.

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Signaling pathway: Hippo signaling pathway
Receptor	FAT4
Adaptor protein	NF2 FRMD6 SAV1 MOBKL1A MOBKL1B
Kinase	MST1 LATS1 LATS2 STK3
Transcription factor	YAP1 TAZ
Other/unknown	RASSF1

Clinical significance

References

Further reading