• Gene id: 9679

Gene Summary

• Gene Symbol: FAM53B   Gene   UCSC   Ensembl
• Aliases: KIAA0140, bA12J10.2, smp
• Gene name: family with sequence similarity 53 member B
• Alternate names: protein FAM53B, protein simplet, simplet homolog,
• Gene location: 10q26.13 (124744377: 124619291)     Exons: 5     NC_000010.11
• OMIM: 604099

Protein Summary

• Protein general information: Q14153  
  • Name: Protein FAM53B (Protein simplet)
  • Length: 422  
  • Mass: 45768
  • Tissue specificity: Detected in skeletal muscle, kidney, spleen, thyroid, testis, ovary, small intestine, colon and peripheral blood. {ECO
• Sequence:

  MVMVLSESLSTRGADSIACGTFSRELHTPKKMSQGPTLFSCGIMENDRWRDLDRKCPLQIDQPSTSIWECLPEKD
  SSLWHREAVTACAVTSLIKDLSISDHNGNPSAPPSKRQCRSLSFSDEMSSCRTSWRPLGSKVWTPVEKRRCYSGG
  SVQRYSNGFSTMQRSSSFSLPSRANVLSSPCDQAGLHHRFGGQPCQGVPGSAPCGQAGDTWSPDLHPVGGGRLDL
  QRSLSCSHEQFSFVEYCPPSANSTPASTPELARRSSGLSRSRSQPCVLNDKKVGVKRRRPEEVQEQRPSLDLAKM
  AQNCQTFSSLSCLSAGTEDCGPQSPFARHVSNTRAWTALLSASGPGGRTPAGTPVPEPLPPSFDDHLACQEDLSC
  EESDSCALDEDCGRRAEPAAAWRDRGAPGNSLCSLDGELDIEQIEKN

• Structural information:
  • Interpro: IPR029356  
  • STRING: ENSP00000338532
• Other Databases: GeneCards:  FAM53B  Malacards:  FAM53B

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005634	nucleus	IBA	cellular component
GO:0006606	protein import into nucleus	IBA	biological process
GO:0090263	positive regulation of canonical Wnt signaling pathway	IBA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0090263	positive regulation of canonical Wnt signaling pathway	IMP	biological process
GO:0060828	regulation of canonical Wnt signaling pathway	IMP	biological process
GO:0016055	Wnt signaling pathway	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IBA	cellular component
GO:0006606	protein import into nucleus	IBA	biological process
GO:0090263	positive regulation of canonical Wnt signaling pathway	IBA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0090263	positive regulation of canonical Wnt signaling pathway	IMP	biological process
GO:0060828	regulation of canonical Wnt signaling pathway	IMP	biological process
GO:0016055	Wnt signaling pathway	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray