• Gene id: 55036

Gene Summary

• Gene Symbol: CCDC40   Gene   UCSC   Ensembl
• Aliases: CFAP172, CILD15, FAP172
• Gene name: coiled-coil domain containing 40
• Alternate names: coiled-coil domain-containing protein 40,
• Gene location: 17q25.3 (80036631: 80100612)     Exons: 27     NC_000017.11
• Gene summary(Entrez): This gene encodes a protein that is necessary for motile cilia function. It functions in correct left-right axis formation by regulating the assembly of the inner dynein arm and the dynein regulatory complexes, which control ciliary beat. Mutations in thi
• OMIM: 607883

SNPs

rs397515393

Strand:    Allele origin:   Allele change:   Mutation type: del

NC_000017.11   g.80039966del
NC_000017.10   g.78013765del
NG_029761.1   g.8335del
NM_017950.4   c.248del
NM_017950.3   c.248del
NM_001330508.2   c.248del
NM_001330508.1   c.248del
NM_001243342.1   c.248del
XM_011524963.3   c.158del
XM_011524965.3   c.248del
XR_934495.2  

Protein Summary

• Protein general information: Q4G0X9  
  • Name: Coiled coil domain containing protein 40
  • Length: 1142  
  • Mass: 130113
• Sequence:

  MAEPGGAAGRSHPEDGSASEGEKEGNNESHMVSPPEKDDGQKGEEAVGSTEHPEEVTTQAEAAIEEGEVETEGEA
  AVEGEEEAVSYGDAESEEEYYYTETSSPEGQISAADTTYPYFSPPQELPGEEAYDSVSGEAGLQGFQQEATGPPE
  SRERRVTSPEPSHGVLGPSEQMGQVTSGPAVGRLTGSTEEPQGQVLPMGVQHRFRLSHGSDIESSDLEEFVSQEP
  VIPPGVPDAHPREGDLPVFQDQIQQPSTEEGAMAERVESEGSDEEAEDEGSQLVVLDPDHPLMVRFQAALKNYLN
  RQIEKLKLDLQELVVATKQSRAQRQELGVNLYEVQQHLVHLQKLLEKSHDRHAMASSERRQKEEELQAARALYTK
  TCAAANEERKKLAALQTEMENLALHLFYMQNIDQDMRDDIRVMTQVVKKAETERIRAEIEKKKQDLYVDQLTTRA
  QQLEEDIALFEAQYLAQAEDTRILRKAVSEACTEIDAISVEKRRIMQQWASSLVGMKHRDEAHRAVLEALRGCQH
  QAKSTDGEIEAYKKSIMKEEEKNEKLASILNRTETEATLLQKLTTQCLTKQVALQSQFNTYRLTLQDTEDALSQD
  QLEQMILTEELQAIRQAIQGELELRRKTDAAIREKLQEHMTSNKTTKYFNQLILRLQKEKTNMMTHLSKINGDIA
  QTTLDITHTSSRLDAHQKTLVELDQDVKKVNELITNSQSEISRRTILIERKQGLINFLNKQLERMVSELGGEEVG
  PLELEIKRLSKLIDEHDGKAVQAQVTWLRLQQEMVKVTQEQEEQLASLDASKKELHIMEQKKLRVESKIEQEKKE
  QKEIEHHMKDLDNDLKKLNMLMNKNRCSSEELEQNNRVTENEFVRSLKASERETIKMQDKLNQLSEEKATLLNQL
  VEAEHQIMLWEKKIQLAKEMRSSVDSEIGQTEIRAMKGEIHRMKVRLGQLLKQQEKMIRAMELAVARRETVTTQA
  EGQRKMDRKALTRTDFHHKQLELRRKIRDVRKATDECTKTVLELEETQRNVSSSLLEKQEKLSVIQADFDTLEAD
  LTRLGALKRQNLSEIVALQTRLKHLQAVKEGRYVFLFRSKQSLVLERQRLDKRLALIATILDRVRDEYPQFQEAL
  HKVSQMIANKLESPGPS

• Structural information:
  • Interpro: IPR037386  
  • STRING: ENSP00000380679
• Other Databases: GeneCards:  CCDC40  Malacards:  CCDC40

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0036159	inner dynein arm assembly	IMP	biological process
GO:0003356	regulation of cilium beat frequency	IMP	biological process
GO:0005930	axoneme	IDA	cellular component
GO:0044458	motile cilium assembly	IMP	biological process
GO:0003341	cilium movement	IMP	biological process
GO:0030317	flagellated sperm motility	IMP	biological process
GO:0005737	cytoplasm	IBA	cellular component
GO:0005929	cilium	IBA	cellular component
GO:0035082	axoneme assembly	IBA	biological process
GO:0060287	epithelial cilium movement involved in determination of left/right asymmetry	IBA	biological process
GO:0001947	heart looping	IBA	biological process
GO:0005929	cilium	IDA	cellular component
GO:0070286	axonemal dynein complex assembly	IMP	biological process
GO:0060287	epithelial cilium movement involved in determination of left/right asymmetry	IMP	biological process
GO:0005929	cilium	ISS	cellular component
GO:0005737	cytoplasm	ISS	cellular component
GO:0035082	axoneme assembly	IEA	biological process
GO:0042995	cell projection	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005929	cilium	IEA	cellular component
GO:0003674	molecular_function	ND	molecular function
GO:0001947	heart looping	IMP	biological process
GO:0003351	epithelial cilium movement involved in extracellular fluid movement	IMP	biological process
GO:0003356	regulation of cilium beat frequency	IMP	biological process
GO:0071907	determination of digestive tract left/right asymmetry	IMP	biological process
GO:0071910	determination of liver left/right asymmetry	IMP	biological process
GO:0030324	lung development	IMP	biological process
GO:0035469	determination of pancreatic left/right asymmetry	IMP	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005929	cilium	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component

Diseases

Associated diseases	References
Primary ciliary dyskinesia	KEGG:H00564
Primary ciliary dyskinesia	KEGG:H00564
Cryptorchidism	MIK: 28606200
Hypospermatogenesis	MIK: 28361989
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
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
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray