• Gene id: 83989

Gene Summary

• Gene Symbol: FAM172A   Gene   UCSC   Ensembl
• Aliases: C5orf21, Toupee
• Gene name: family with sequence similarity 172 member A
• Alternate names: cotranscriptional regulator FAM172A, protein FAM172A,
• Gene location: 5q15 (94111698: 93615129)     Exons: 23     NC_000005.10

Protein Summary

• Protein general information: Q8WUF8  
  • Name: Cotranscriptional regulator FAM172A (Protein FAM172A)
  • Length: 416  
  • Mass: 47972
• Sequence:

  MSISLSSLILLPIWINMAQIQQGGPDEKEKTTALKDLLSRIDLDELMKKDEPPLDFPDTLEGFEYAFNEKGQLRH
  IKTGEPFVFNYREDLHRWNQKRYEALGEIITKYVYELLEKDCNLKKVSIPVDATESEPKSFIFMSEDALTNPQKL
  MVLIHGSGVVRAGQWARRLIINEDLDSGTQIPFIKRAVAEGYGVIVLNPNENYIEVEKPKIHVQSSSDSSDEPAE
  KRERKDKVSKETKKRRDFYEKYRNPQREKEMMQLYIRENGSPEEHAIYVWDHFIAQAAAENVFFVAHSYGGLAFV
  ELMIQREADVKNKVTAVALTDSVHNVWHQEAGKTIREWMRENCCNWVSSSEPLDTSVESMLPDCPRVSAGTDRHE
  LTSWKSFPSIFKFFTEASEAKTSSLKPAVTRRSHRIKHEEL

• Structural information:
  • Interpro: IPR029058  IPR019154  IPR039929  
  • Prosite: PS00014
  • STRING: ENSP00000379294
• Other Databases: GeneCards:  FAM172A  Malacards:  FAM172A

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005634	nucleus	IBA	cellular component
GO:0031047	gene silencing by RNA	IBA	biological process
GO:0031048	heterochromatin assembly by small RNA	IBA	biological process
GO:0035197	siRNA binding	IBA	contributes to
GO:0014032	neural crest cell development	ISS	biological process
GO:0000381	regulation of alternative mRNA splicing, via spliceosome	ISS	biological process
GO:0005634	nucleus	ISS	cellular component
GO:0000381	regulation of alternative mRNA splicing, via spliceosome	IEA	biological process
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0006397	mRNA processing	IEA	biological process
GO:0008380	RNA splicing	IEA	biological process
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0014032	neural crest cell development	IEA	biological process
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0000381	regulation of alternative mRNA splicing, via spliceosome	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
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)
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