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) [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 109,560,575 bp [2] End 109,613,105 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) 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 BioGPS 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 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: 109.56 – 109.61 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Pseudokinase 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] 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.