• Gene id: 85478

Gene Summary

• Gene Symbol: CCDC65   Gene   UCSC   Ensembl
• Aliases: CFAP250, DRC2, FAP250, NYD-SP28
• Gene name: coiled-coil domain containing 65
• Alternate names: dynein regulatory complex subunit 2, testis development protein NYD-SP28,
• Gene location: 12q13.12 (135075504: 135121183)     Exons: 9     NC_000009.12
• Gene summary(Entrez): This gene encodes a sperm tail protein that is highly expressed in adult testis, spermatocytes and spermatids. The protein plays a critical role in the assembly of the nexin-dynein regulatory complex. Mutations in this gene result in primary ciliary dyski
• OMIM: 611088

Protein Summary

• Protein general information: Q8IXS2  
  • Name: Dynein regulatory complex subunit 2 (Coiled coil domain containing protein 65) (Testis development protein NYD SP28)
  • Length: 484  
  • Mass: 57297
  • Tissue specificity: Highly expressed in adult testis, in spermatocytes and spermatids. Also observed in spermatogonia. Not detected in Leydig cells, nor in fetal testis (at protein level). {ECO
• Sequence:

  MPKKEKMAKTPLSDEKQLLLFQQKLLAEEEMAKKKERLLSQFLKDKLAKEEHNSALNLNKINTQWRTVLREVKTR
  ELHKDIEILSQTFERVVDCKDNVIKSLAKDLSEAEEQYAHALRSHLHNVDQLLALQRHRLSLLEESYNMELEALT
  KEFETERKTIIDQHEKEIHYLQDIFMAMEQNYIDSEYESKLEFQSMWNDLKNMNLEEKHFLRLHLENRVEDLWRK
  FQDVLKNYTDATEDRKAAFETLQVKDEKSSKEIEVQMKKIQKLQDAITISKGKIMIHSRESEDENRYIRNDKELV
  LVQLRKLKAQRTQARAASQKNLVRLTLESNATLKALRKIVDKGEKILKLAEICRKFETEEEKVLPFYSSVLTPKE
  QEGIQKNNLEELTEELTKVMVDYIGMENFWKRYNKVKLEQLSLQHRRAQLLDINGKLREMLKQYLDGISVSDEVL
  SQLNPLFIVNYQSNLLQPLSIRIAHPGDKQHPTT

• Structural information:
  • Interpro: IPR039505  IPR039750  
  • STRING: ENSP00000312706
• Other Databases: GeneCards:  CCDC65  Malacards:  CCDC65

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003352	regulation of cilium movement	IBA	biological process
GO:0005930	axoneme	IBA	cellular component
GO:0060285	cilium-dependent cell motility	IBA	biological process
GO:0070286	axonemal dynein complex assembly	IBA	biological process
GO:0005858	axonemal dynein complex	IEA	cellular component
GO:0070286	axonemal dynein complex assembly	IEA	biological process
GO:0042995	cell projection	IEA	cellular component
GO:0031514	motile cilium	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005929	cilium	IEA	cellular component
GO:0031514	motile cilium	IEA	cellular component
GO:0036064	ciliary basal body	IDA	cellular component
GO:0003352	regulation of cilium movement	IMP	biological process
GO:0005575	cellular_component	ND	cellular component
GO:0003674	molecular_function	ND	molecular function
GO:0060271	cilium assembly	IMP	biological process

Diseases

Associated diseases	References
Primary ciliary dyskinesia	KEGG:H00564
Primary ciliary dyskinesia	KEGG:H00564
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Spermatogenic defects	MIK: 31037746
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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R