• Gene id: 29080

Gene Summary

• Gene Symbol: CCDC59   Gene   UCSC   Ensembl
• Aliases: BR22, HSPC128, TAP26
• Gene name: coiled-coil domain containing 59
• Alternate names: thyroid transcription factor 1-associated protein 26, TTF-1-associated protein 26, TTF-1-associated protein BR2, coiled-coil domain-containing protein 59,
• Gene location: 12q21.31 (82358804: 82352302)     Exons: 5     NC_000012.12
• OMIM: 0

SNPs

rs143136847

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000012.12   g.82354560T>C
NC_000012.12   g.82354560T>G
NC_000012.11   g.82748339T>C
NC_000012.11   g.82748339T>G
NG_053173.1   g.1155T>C
NG_053173.1   g.1155T>G
NG_053173.2   g.1155T>C
NG_053173.2   g.1155T>G
NM_014167.5   c.499A>G
NM_014167.5   c.499A>C
NM_014167.4  

Protein Summary

• Protein general information: Q9P031  
  • Name: Thyroid transcription factor 1 associated protein 26 (TTF 1 associated protein 26) (Coiled coil domain containing protein 59) (TTF 1 associated protein BR2)
  • Length: 241  
  • Mass: 28670
  • Tissue specificity: Ubiquitously expressed. In lung, expression is restricted to the alveolar epithelial cells. {ECO
• Sequence:

  MAPVRRSAKWRPGGIEARGEGVSTVGYRNKNVRQKTWRPNHPQAFVGSVREGQGFAFRRKLKIQQSYKKLLRKEK
  KAQTSLESQFTDRYPDNLKHLYLAEEERHRKQARKVDHPLSEQVHQPLLEEQCSIDEPLFEDQCSFDQPQPEEQC
  IKTVNSFTIPKKNKKKTSNQKAQEEYEQIQAKRAAKKQEFERRKQEREEAQRQYKKKKMEVFKILNKKTKKGQPN
  LNVQMEYLLQKIQEKC

• Structural information:
  • Interpro: IPR013730  
  • STRING: ENSP00000256151
• Other Databases: GeneCards:  CCDC59  Malacards:  CCDC59

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005634	nucleus	IEA	cellular component
GO:0044267	cellular protein metabolic process	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0003723	RNA binding	HDA	molecular function

Diseases

Associated diseases	References
Hypospadias	MIK: 25108383
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

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)
25108383	Hypospadias	rs143136847d		1,006 boys who underwent surgery for hypospadias and 5,486 individuals (2,390 males and 3,096 females)	Male infertility	GWAS
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray