FAM20A

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

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] Band 17q24.2 Start 68,535,113 bp[1] End 68,601,367 bp[1]
Gene location (Mouse) Chr. Chromosome 11 (mouse)[2] Band 11|11 E1 Start 109,669,749 bp[2] End 109,722,279 bp[2]
Gene ontology Molecular function • protein serine/threonine kinase activity • protein serine/threonine kinase activator activity • GO:0001948 protein binding • phosphotransferase activity, alcohol group as acceptor Cellular component • extracellular region • extracellular exosome • endoplasmic reticulum • extracellular • 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
Species	Human	Mouse
Entrez	54757	208659
Ensembl	ENSG00000108950	ENSMUSG00000020614
UniProt	Q96MK3	Q8CID3
RefSeq (mRNA)	NM_001243746 NM_017565	NM_153782
RefSeq (protein)	NP_001230675 NP_060035	NP_722477
Location (UCSC)	Chr 17: 68.54 – 68.6 Mb	Chr 11: 109.67 – 109.72 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

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

1. GRCh38: Ensembl release 89: ENSG00000108950 - Ensembl, May 2017
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.
5. "Entrez Gene: family with sequence similarity 20".
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.
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.
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.