• Gene id: 81576

Gene Summary

• Gene Symbol: CCDC130   Gene   UCSC   Ensembl
• Gene name: coiled-coil domain containing 130
• Alternate names: coiled-coil domain-containing protein 130, 9 kDa protein,
• Gene location: 19p13.13 (13731751: 13763291)     Exons: 13     NC_000019.10

Protein Summary

• Protein general information: P13994  
  • Name: Coiled coil domain containing protein 130 (9 kDa protein)
  • Length: 396  
  • Mass: 44802
• Sequence:

  MGERKGVNKYYPPDFNPEKHGSLNRYHNSHPLRERARKLSQGILIIRFEMPYNIWCDGCKNHIGMGVRYNAEKKK
  VGNYYTTPIYRFRMKCHLCVNYIEMQTDPANCDYVIVSGAQRKEERWDMADNEQVLTTEHEKKQKLETDAMFRLE
  HGEADRSTLKKALPTLSHIQEAQSAWKDDFALNSMLRRRFREKKKAIQEEEERDQALQAKASLTIPLVPETEDDR
  KLAALLKFHTLDSYEDKQKLKRTEIISRSWFPSAPGSASSSKVSGVLKKLAQSRRTALATSPITVGDLGIVRRRS
  RDVPESPQHAADTPKSGEPRVPEEAAQDRPMSPGDCPPETTETPKCSSPRGQEGSRQDKPLSPAGSSQEAADTPD
  TRHPCSLGSSLVADYSDSESE

• Structural information:
  • Interpro: IPR007590  
  • STRING: ENSP00000465776
• Other Databases: GeneCards:  CCDC130  Malacards:  CCDC130

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0071014	post-mRNA release spliceosomal complex	IBA	cellular component
GO:0005684	U2-type spliceosomal complex	IBA	cellular component
GO:0008380	RNA splicing	IBA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0009615	response to virus	IEP	biological process
GO:0005575	cellular_component	ND	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray