• Gene id: 54757

Gene Summary

• Gene Symbol: FAM20A   Gene   UCSC   Ensembl
• Aliases: AI1G, AIGFS, FP2747
• Gene name: FAM20A golgi associated secretory pathway pseudokinase
• Alternate names: pseudokinase FAM20A, family with sequence similarity 20, member A, protein FAM20A,
• Gene location: 17q24.2 (68601366: 68530275)     Exons: 16     NC_000017.11
• Gene summary(Entrez): This locus encodes a protein that is likely secreted and may function in hematopoiesis. A mutation at this locus has been associated with amelogenesis imperfecta and gingival hyperplasia syndrome. Alternatively spliced transcript variants have been identi
• OMIM: 611062

Protein Summary

• Protein general information: Q96MK3  
  • Name: Pseudokinase FAM20A
  • Length: 541  
  • Mass: 61417
  • Tissue specificity: Highly expressed in lung and liver. Intermediate levels in thymus and ovary. {ECO
• Sequence:

  MPGLRRDRLLTLLLLGALLSADLYFHLWPQVQRQLRPRERPRGCPCTGRASSLARDSAAAASDPGTIVHNFSRTE
  PRTEPAGGSHSGSSSKLQALFAHPLYNVPEEPPLLGAEDSLLASQEALRYYRRKVARWNRRHKMYREQMNLTSLD
  PPLQLRLEASWVQFHLGINRHGLYSRSSPVVSKLLQDMRHFPTISADYSQDEKALLGACDCTQIVKPSGVHLKLV
  LRFSDFGKAMFKPMRQQRDEETPVDFFYFIDFQRHNAEIAAFHLDRILDFRRVPPTVGRIVNVTKEILEVTKNEI
  LQSVFFVSPASNVCFFAKCPYMCKTEYAVCGNPHLLEGSLSAFLPSLNLAPRLSVPNPWIRSYTLAGKEEWEVNP
  LYCDTVKQIYPYNNSQRLLNVIDMAIFDFLIGNMDRHHYEMFTKFGDDGFLIHLDNARGFGRHSHDEISILSPLS
  QCCMIKKKTLLHLQLLAQADYRLSDVMRESLLEDQLSPVLTEPHLLALDRRLQTILRTVEGCIVAHGQQSVIVDG
  PVEQLAPDSGQANLTS

• Structural information:
  • Interpro: IPR024869  IPR009581  
  • PDB: 5WRR 5WRS 5YH2 5YH3
  • PDBsum: 5WRR 5WRS 5YH2 5YH3
  • STRING: ENSP00000468308
• Other Databases: GeneCards:  FAM20A  Malacards:  FAM20A

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005794	Golgi apparatus	IBA	colocalizes with
GO:0043539	protein serine/threonine kinase activator activity	IBA	molecular function
GO:0006468	protein phosphorylation	IBA	NOT|biological process
GO:0016310	phosphorylation	IBA	NOT|biological process
GO:0016773	phosphotransferase activity, alcohol group as acceptor	IBA	NOT|molecular function
GO:0070166	enamel mineralization	IBA	biological process
GO:0043539	protein serine/threonine kinase activator activity	IDA	molecular function
GO:0004674	protein serine/threonine kinase activity	IDA	NOT|molecular function
GO:0001934	positive regulation of protein phosphorylation	IDA	biological process
GO:0031214	biomineral tissue development	IMP	biological process
GO:0005783	endoplasmic reticulum	ISS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0001934	positive regulation of protein phosphorylation	ISS	biological process
GO:0031214	biomineral tissue development	IEA	biological process
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0009617	response to bacterium	IEA	biological process
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005623	obsolete cell	IEA	cellular component
GO:0070166	enamel mineralization	IEA	biological process
GO:0001934	positive regulation of protein phosphorylation	IEA	biological process
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0071902	positive regulation of protein serine/threonine kinase activity	IEA	biological process
GO:0071902	positive regulation of protein serine/threonine kinase activity	IEA	biological process
GO:0006468	protein phosphorylation	IEA	biological process
GO:0005615	extracellular space	IDA	cellular component
GO:0005794	Golgi apparatus	IDA	colocalizes with
GO:0070166	enamel mineralization	IMP	biological process
GO:0070166	enamel mineralization	IMP	biological process
GO:0044691	tooth eruption	IMP	biological process
GO:0044691	tooth eruption	IMP	biological process
GO:0044691	tooth eruption	IMP	biological process
GO:0070062	extracellular exosome	HDA	cellular component
GO:0070166	enamel mineralization	IMP	biological process
GO:0044691	tooth eruption	IMP	biological process
GO:0055074	calcium ion homeostasis	IMP	biological process
GO:0005623	obsolete cell	ISS	cellular component

Diseases

Associated diseases	References
Amelogenesis imperfecta	KEGG:H00615
Amelogenesis imperfecta	KEGG:H00615
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Hypospermatogenesis	MIK: 28361989
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray