Property Summary

NCBI Gene PubMed Count 15
PubMed Score 15.78
PubTator Score 15.70

Knowledge Summary

Patent

No data available

Expression

Synonym

Accession Q96MK3 B2RN47 B2RN49 Q9UF95
Symbols AI1G
AIGFS
FP2747

Gene

Gene RIF (10)

PMID Text
25789606 Fam20A potentiates Fam20C kinase activity and promotes the phosphorylation of enamel matrix proteins in vitro.
24259279 our findings support the suggestion that enamel-renal and AIGFSs are actually the same entity with different manifestations, associated with FAM20A mutations.
24196488 study identified 3 novel FAM20A mutations that caused autosomal-recessive amelogenesis imperfecta with delayed and arrested tooth eruption; conclude that FAM20A is likely a secretory pathway kinase and that loss-of-function mutations cause pathology where its phosphorylations are necessary for normal development or homeostasis
23697977 the first duplication in FAM20A and the fifth independent mutation associated with gingival hyperplasia and dental anomalies, is reported.
23468644 we conclude that FAM20A, which has a kinase homology domain and localizes to the Golgi, is a putative Golgi kinase that plays a significant role in the regulation of biomineralization processes.
23434854 Data indicate that autosomal recessive FAM20A mutations causes nephrocalcinosis and amelogenesis imperfecta.
23185530 Myocardial infarction is distinguished by the up-regulation of SOCS3 and FAM20A genes within first days in the vast majority of patients.
21990045 Three homozygous mutations in three families, and a compound heterozygous mutation in one family with hypoplastic amelogenesis imperfecta have been identified in FAM20A.
21549343 We identified a homozygous nonsense mutation in exon 2 of FAM20A that was not present in the Single Nucleotide Polymorphism database (dbSNP), the 1000 Genomes database, or the Centre d'Etude du Polymorphisme Humain (CEPH) Diversity Panel.
21549343 A homozygous nonsense mutation in exon 2 of FAM20A underlies Amelogenesis imperfecta (AI) -- disorders of biomineralization resulting from failure of normal enamel formation.

AA Sequence

MPGLRRDRLLTLLLLGALLSADLYFHLWPQVQRQLRPRERPRGCPCTGRASSLARDSAAAASDPGTIVHN      1 - 70
FSRTEPRTEPAGGSHSGSSSKLQALFAHPLYNVPEEPPLLGAEDSLLASQEALRYYRRKVARWNRRHKMY     71 - 140
REQMNLTSLDPPLQLRLEASWVQFHLGINRHGLYSRSSPVVSKLLQDMRHFPTISADYSQDEKALLGACD    141 - 210
CTQIVKPSGVHLKLVLRFSDFGKAMFKPMRQQRDEETPVDFFYFIDFQRHNAEIAAFHLDRILDFRRVPP    211 - 280
TVGRIVNVTKEILEVTKNEILQSVFFVSPASNVCFFAKCPYMCKTEYAVCGNPHLLEGSLSAFLPSLNLA    281 - 350
PRLSVPNPWIRSYTLAGKEEWEVNPLYCDTVKQIYPYNNSQRLLNVIDMAIFDFLIGNMDRHHYEMFTKF    351 - 420
GDDGFLIHLDNARGFGRHSHDEISILSPLSQCCMIKKKTLLHLQLLAQADYRLSDVMRESLLEDQLSPVL    421 - 490
TEPHLLALDRRLQTILRTVEGCIVAHGQQSVIVDGPVEQLAPDSGQANLTS                       491 - 541
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Text Mined References (22)

PMID Year Title
25827751 2015 Novel FAM20A mutation causes autosomal recessive amelogenesis imperfecta.
25789606 2015 A secretory kinase complex regulates extracellular protein phosphorylation.
25636655 2015 Further evidence for causal FAM20A mutations and first case of amelogenesis imperfecta and gingival hyperplasia syndrome in Morocco: a case report.
24756937 2014 Enamel-Renal-Gingival syndrome, hypodontia, and a novel FAM20A mutation.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
24259279 2014 Enamel-renal-gingival syndrome and FAM20A mutations.
24196488 2014 FAM20A mutations associated with enamel renal syndrome.
23697977 2013 Autosomal recessive gingival hyperplasia and dental anomalies caused by a 29-base pair duplication in the FAM20A gene.
23468644 2013 FAM20A mutations can cause enamel-renal syndrome (ERS).
23434854 2012 Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutations.
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