Protein-coding gene in the species Homo sapiens
FAM20A |
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Identifiers |
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Aliases | FAM20A, AI1G, AIGFS, FP2747, family with sequence similarity 20 member A, golgi associated secretory pathway pseudokinase, FAM20A golgi associated secretory pathway pseudokinase |
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External IDs | OMIM: 611062; MGI: 2388266; HomoloGene: 9719; GeneCards: FAM20A; OMA:FAM20A - orthologs |
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Gene location (Human) |
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![Chromosome 17 (human)](//upload.wikimedia.org/wikipedia/commons/thumb/0/00/Ideogram_human_chromosome_17.svg/300px-Ideogram_human_chromosome_17.svg.png) | Chr. | Chromosome 17 (human)[1] |
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| Band | 17q24.2 | Start | 68,535,113 bp[1] |
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End | 68,601,367 bp[1] |
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Gene location (Mouse) |
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![Chromosome 11 (mouse)](//upload.wikimedia.org/wikipedia/commons/thumb/a/a5/Ideogram_house_mouse_chromosome_11.svg/260px-Ideogram_house_mouse_chromosome_11.svg.png) | Chr. | Chromosome 11 (mouse)[2] |
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| Band | 11|11 E1 | Start | 109,560,575 bp[2] |
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End | 109,613,105 bp[2] |
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RNA expression pattern |
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Bgee | Human | Mouse (ortholog) |
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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
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| 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
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| More reference expression data |
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BioGPS | |
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Gene ontology |
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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 |
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Orthologs |
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Species | Human | Mouse |
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Entrez | | |
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Ensembl | | |
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UniProt | | |
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RefSeq (mRNA) | | |
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RefSeq (protein) | | |
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Location (UCSC) | Chr 17: 68.54 – 68.6 Mb | Chr 11: 109.56 – 109.61 Mb |
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PubMed search | [3] | [4] |
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Wikidata |
View/Edit Human | View/Edit Mouse |
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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.