FAM20A

FAM20A
Identifiers
Aliases	FAM20A, AI1G, AIGFS, FP2747, family with sequence similarity 20 member A, golgi associated secretory pathway pseudokinase, FAM20A golgi associated secretory pathway pseudokinase
External IDs	OMIM: 611062 MGI: 2388266 HomoloGene: 9719 GeneCards: FAM20A
Gene location (Human)
Chr.	Chromosome 17 (human)[1]
End	68,601,367 bp[1]
Gene location (Mouse)
Chr.	Chromosome 11 (mouse)[2]
End	109,613,105 bp[2]
RNA expression pattern
	Top expressed in
	right lobe of liver; ; smooth muscle tissue; ; upper lobe of left lung; ; stromal cell of endometrium; ; canal of the cervix; ; minor salivary gland; ; body of stomach; ; appendix; ; gallbladder; ; gastric mucosa;
	Top expressed in
	molar; ; seminiferous tubule; ; left lobe of liver; ; stria vascularis; ; islet of Langerhans; ; spermatid; ; parotid gland; ; vestibular labyrinth; ; spermatocyte; ; otolith organ;
	More reference expression data
	n/a
Gene ontology
Molecular function	protein serine/threonine kinase activity; protein serine/threonine kinase activator activity; protein binding; phosphotransferase activity, alcohol group as acceptor;
Cellular component	extracellular region; extracellular exosome; endoplasmic reticulum; extracellular space; Golgi apparatus;
Biological process	biomineral tissue development; enamel mineralization; positive regulation of protein phosphorylation; calcium ion homeostasis; tooth eruption; positive regulation of protein serine/threonine kinase activity; protein phosphorylation; response to bacterium;
	Sources:Amigo / QuickGO
Orthologs
	54757
	208659
	ENSG00000108950
	ENSMUSG00000020614
	Q96MK3
	Q8CID3
	NM_001243746; NM_017565
	NM_153782
	NP_001230675; NP_060035
	NP_722477
	Wikidata
View/Edit Human	View/Edit Mouse

FAM20A is a protein that in humans is encoded by the FAM20A gene.[5]

Function

FAM20A belongs to an evolutionarily conserved family of secreted proteins expressed in many tissues. This locus encodes a protein that is likely secreted and may function in hematopoiesis.[6] A mutation at this locus has been associated with amelogenesis imperfecta and gingival hyperplasia syndrome. Alternatively spliced transcript variants have been identified. [provided by RefSeq, Aug 2011]

Clinical significance

A mutation in FAM20A was reported to be associated with amelogenesis imperfecta, an inherited enamel defect, and gingival hyperplasia syndrome.[7]

Human mutations in FAM20A were also reported to cause Enamel-Renal Syndrome, an autosomal recessive disorder characterized by severe enamel hypoplasia, failed tooth eruption, intrapulpal calcifications, enlarged gingiva, and nephrocalcinosis.[8]

References

GRCh38: Ensembl release 89: ENSG00000108950 - Ensembl, May 2017
GRCm38: Ensembl release 89: ENSMUSG00000020614 - 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: family with sequence similarity 20".
Nalbant D, Youn H, Nalbant SI, Sharma S, Cobos E, Beale EG, Du Y, Williams SC (2005). "FAM20: an evolutionarily conserved family of secreted proteins expressed in hematopoietic cells". BMC Genomics. 6 (1): 11. doi:10.1186/1471-2164-6-11. PMC 548683. PMID 15676076.
O'Sullivan J, Bitu CC, Daly SB, Urquhart JE, Barron MJ, Bhaskar SS, Martelli-Júnior H, dos Santos Neto PE, Mansilla MA, Murray JC, Coletta RD, Black GC, Dixon MJ (May 2011). "Whole-Exome sequencing identifies FAM20A mutations as a cause of amelogenesis imperfecta and gingival hyperplasia syndrome". Am. J. Hum. Genet. 88 (5): 616–20. doi:10.1016/j.ajhg.2011.04.005. PMC 3146735. PMID 21549343.
Wang SK, Aref P, Hu Y, Milkovich RN, Simmer JP, El-Khateeb M, Daggag H, Baqain ZH, Hu JC (Feb 2013). "FAM20A mutations can cause enamel-renal syndrome (ERS)". PLOS Genet. 9 (2): e1003302. doi:10.1371/journal.pgen.1003302. PMC 3585120. PMID 23468644.

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[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000108950 - Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000020614 - 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: family with sequence similarity 20".

[pmid15676076-6] Nalbant D, Youn H, Nalbant SI, Sharma S, Cobos E, Beale EG, Du Y, Williams SC (2005). "FAM20: an evolutionarily conserved family of secreted proteins expressed in hematopoietic cells". BMC Genomics. 6 (1): 11. doi:10.1186/1471-2164-6-11. PMC 548683. PMID 15676076.

[pmid21549343-7] O'Sullivan J, Bitu CC, Daly SB, Urquhart JE, Barron MJ, Bhaskar SS, Martelli-Júnior H, dos Santos Neto PE, Mansilla MA, Murray JC, Coletta RD, Black GC, Dixon MJ (May 2011). "Whole-Exome sequencing identifies FAM20A mutations as a cause of amelogenesis imperfecta and gingival hyperplasia syndrome". Am. J. Hum. Genet. 88 (5): 616–20. doi:10.1016/j.ajhg.2011.04.005. PMC 3146735. PMID 21549343.

[pmid23468644-8] Wang SK, Aref P, Hu Y, Milkovich RN, Simmer JP, El-Khateeb M, Daggag H, Baqain ZH, Hu JC (Feb 2013). "FAM20A mutations can cause enamel-renal syndrome (ERS)". PLOS Genet. 9 (2): e1003302. doi:10.1371/journal.pgen.1003302. PMC 3585120. PMID 23468644.