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; OMA:FAM20A - orthologs
Gene location (Human)
Chr.	Chromosome 17 (human)
End	68,601,367 bp
Gene location (Mouse)
Chr.	Chromosome 11 (mouse)
End	109,613,105 bp
RNA expression pattern
	Top expressed in
	right lobe of liver; ; smooth muscle tissue; ; upper lobe of left lung; ; left testis; ; right testis; ; stromal cell of endometrium; ; body of uterus; ; canal of the cervix; ; minor salivary glands; ; body of stomach;
	Top expressed in
	molar; ; vestibular membrane of cochlear duct; ; seminiferous tubule; ; left lobe of liver; ; stria vascularis; ; islet of Langerhans; ; spermatid; ; stroma of bone marrow; ; parotid gland; ; vestibular labyrinth;
	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

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000108950 – Ensembl, May 2017
^ ^a ^b ^c 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.

This article on a gene on human chromosome 17 is a stub. You can help Wikipedia by expanding it.

[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.

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