Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	339829
Gene name Gene Name - the full gene name approved by the HGNC.	Coiled-coil domain 39 molecular ruler complex subunit
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	CCDC39
Synonyms (NCBI Gene) Gene synonyms aliases	CFAP59, CILD14, FAP59
Chromosome Chromosome number	3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	3q26.33
Summary Summary of gene provided in NCBI Entrez Gene.	The protein encoded by this gene is involved in the motility of cilia and flagella. The encoded protein is essential for the assembly of dynein regulatory and inner dynein arm complexes, which regulate ciliary beat. Defects in this gene are a cause of pri

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SNP ID	Visualize variation	Clinical significance	Consequence
rs140505857	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs200089274	A>G,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant
rs201780665	G>A,T	Pathogenic, uncertain-significance	Coding sequence variant, synonymous variant, stop gained
rs376782159	G>A,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, stop gained, synonymous variant
rs397515392	C>G	Pathogenic	Splice donor variant
rs551191744	G>-	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant
rs577069249	T>C	Pathogenic	Intron variant
rs587778820	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs587778822	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs747980515	T>-,TT	Pathogenic	Coding sequence variant, frameshift variant
rs753580394	C>T	Pathogenic	Splice donor variant
rs756235547	T>C	Pathogenic	Splice acceptor variant
rs758482424	AA>-	Pathogenic	Frameshift variant, coding sequence variant
rs769223754	C>A,T	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs772219642	G>T	Pathogenic	Coding sequence variant, stop gained
rs773801386	GT>-	Pathogenic, likely-pathogenic	Coding sequence variant, frameshift variant
rs778577109	G>A	Pathogenic	Coding sequence variant, stop gained
rs780175755	AG>-	Pathogenic	Frameshift variant, coding sequence variant
rs863224531	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs878855279	TTGT>-	Pathogenic	Frameshift variant, coding sequence variant
rs878855280	TA>-	Pathogenic	Frameshift variant, coding sequence variant
rs1064796360	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1210953680	A>T	Pathogenic, likely-pathogenic	Splice donor variant
rs1256848235	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1275367324	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1285431486	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1415346246	AACT>-	Pathogenic	Splice acceptor variant, coding sequence variant
rs1553803540	C>T	Pathogenic	Splice donor variant
rs1553804100	T>C	Likely-pathogenic	Intron variant
rs1553804209	->T	Pathogenic	Frameshift variant, coding sequence variant
rs1553804220	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1553804640	C>-	Pathogenic	Splice acceptor variant, coding sequence variant
rs1553805740	->GT	Pathogenic	Frameshift variant, coding sequence variant
rs1553805885	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1560086701	AT>-	Pathogenic	Frameshift variant, coding sequence variant
rs1560090006	AGTGGCT>-	Pathogenic	Frameshift variant, coding sequence variant
rs1560092160	CT>-	Pathogenic	Frameshift variant, coding sequence variant
rs1560092440	A>T	Pathogenic	Stop gained, coding sequence variant
rs1576941580	A>-	Pathogenic	Stop gained, coding sequence variant

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miRTarBase ID	miRNA	Experiments	Reference
MIRT023078	hsa-miR-124-3p	Microarray	18668037
MIRT712571	hsa-miR-4709-5p	HITS-CLIP	19536157
MIRT712570	hsa-miR-4742-3p	HITS-CLIP	19536157
MIRT712569	hsa-miR-421	HITS-CLIP	19536157
MIRT712568	hsa-miR-335-3p	HITS-CLIP	19536157
MIRT712571	hsa-miR-4709-5p	HITS-CLIP	19536157
MIRT712570	hsa-miR-4742-3p	HITS-CLIP	19536157
MIRT712569	hsa-miR-421	HITS-CLIP	19536157
MIRT712568	hsa-miR-335-3p	HITS-CLIP	19536157
MIRT613239	hsa-miR-892c-3p	HITS-CLIP	23824327
MIRT613237	hsa-miR-4676-3p	HITS-CLIP	23824327
MIRT613238	hsa-miR-452-5p	HITS-CLIP	23824327
MIRT613236	hsa-miR-1208	HITS-CLIP	23824327
MIRT613234	hsa-miR-8064	HITS-CLIP	23824327
MIRT613235	hsa-miR-6740-5p	HITS-CLIP	23824327
MIRT613233	hsa-miR-19a-5p	HITS-CLIP	23824327
MIRT613232	hsa-miR-19b-1-5p	HITS-CLIP	23824327
MIRT613231	hsa-miR-19b-2-5p	HITS-CLIP	23824327
MIRT613230	hsa-miR-5587-5p	HITS-CLIP	23824327
MIRT613229	hsa-miR-133a-3p	HITS-CLIP	23824327
MIRT613228	hsa-miR-133b	HITS-CLIP	23824327
MIRT613227	hsa-miR-758-3p	HITS-CLIP	23824327
MIRT613226	hsa-miR-450b-5p	HITS-CLIP	23824327
MIRT613225	hsa-miR-507	HITS-CLIP	23824327
MIRT613224	hsa-miR-557	HITS-CLIP	23824327
MIRT613223	hsa-miR-3680-3p	HITS-CLIP	23824327
MIRT613239	hsa-miR-892c-3p	HITS-CLIP	23824327
MIRT613237	hsa-miR-4676-3p	HITS-CLIP	23824327
MIRT613238	hsa-miR-452-5p	HITS-CLIP	23824327
MIRT613236	hsa-miR-1208	HITS-CLIP	23824327
MIRT613234	hsa-miR-8064	HITS-CLIP	23824327
MIRT613235	hsa-miR-6740-5p	HITS-CLIP	23824327
MIRT613233	hsa-miR-19a-5p	HITS-CLIP	23824327
MIRT613232	hsa-miR-19b-1-5p	HITS-CLIP	23824327
MIRT613231	hsa-miR-19b-2-5p	HITS-CLIP	23824327
MIRT613230	hsa-miR-5587-5p	HITS-CLIP	23824327
MIRT613229	hsa-miR-133a-3p	HITS-CLIP	23824327
MIRT613228	hsa-miR-133b	HITS-CLIP	23824327
MIRT613227	hsa-miR-758-3p	HITS-CLIP	23824327
MIRT613226	hsa-miR-450b-5p	HITS-CLIP	23824327
MIRT613225	hsa-miR-507	HITS-CLIP	23824327
MIRT613224	hsa-miR-557	HITS-CLIP	23824327
MIRT613223	hsa-miR-3680-3p	HITS-CLIP	23824327
MIRT613239	hsa-miR-892c-3p	HITS-CLIP	23824327
MIRT613237	hsa-miR-4676-3p	HITS-CLIP	23824327
MIRT613238	hsa-miR-452-5p	HITS-CLIP	23824327
MIRT613236	hsa-miR-1208	HITS-CLIP	23824327
MIRT613234	hsa-miR-8064	HITS-CLIP	23824327
MIRT613235	hsa-miR-6740-5p	HITS-CLIP	23824327
MIRT613233	hsa-miR-19a-5p	HITS-CLIP	23824327
MIRT613232	hsa-miR-19b-1-5p	HITS-CLIP	23824327
MIRT613231	hsa-miR-19b-2-5p	HITS-CLIP	23824327
MIRT613230	hsa-miR-5587-5p	HITS-CLIP	23824327
MIRT613229	hsa-miR-133a-3p	HITS-CLIP	23824327
MIRT613228	hsa-miR-133b	HITS-CLIP	23824327
MIRT613227	hsa-miR-758-3p	HITS-CLIP	23824327
MIRT613226	hsa-miR-450b-5p	HITS-CLIP	23824327
MIRT613225	hsa-miR-507	HITS-CLIP	23824327
MIRT613224	hsa-miR-557	HITS-CLIP	23824327
MIRT613223	hsa-miR-3680-3p	HITS-CLIP	23824327
MIRT613239	hsa-miR-892c-3p	HITS-CLIP	23824327
MIRT613237	hsa-miR-4676-3p	HITS-CLIP	23824327
MIRT613238	hsa-miR-452-5p	HITS-CLIP	23824327
MIRT613236	hsa-miR-1208	HITS-CLIP	23824327
MIRT613234	hsa-miR-8064	HITS-CLIP	23824327
MIRT613235	hsa-miR-6740-5p	HITS-CLIP	23824327
MIRT613233	hsa-miR-19a-5p	HITS-CLIP	23824327
MIRT613232	hsa-miR-19b-1-5p	HITS-CLIP	23824327
MIRT613231	hsa-miR-19b-2-5p	HITS-CLIP	23824327
MIRT613230	hsa-miR-5587-5p	HITS-CLIP	23824327
MIRT613229	hsa-miR-133a-3p	HITS-CLIP	23824327
MIRT613228	hsa-miR-133b	HITS-CLIP	23824327
MIRT613227	hsa-miR-758-3p	HITS-CLIP	23824327
MIRT613226	hsa-miR-450b-5p	HITS-CLIP	23824327
MIRT613225	hsa-miR-507	HITS-CLIP	23824327
MIRT613224	hsa-miR-557	HITS-CLIP	23824327
MIRT613223	hsa-miR-3680-3p	HITS-CLIP	23824327
MIRT613239	hsa-miR-892c-3p	HITS-CLIP	23824327
MIRT613237	hsa-miR-4676-3p	HITS-CLIP	23824327
MIRT613238	hsa-miR-452-5p	HITS-CLIP	23824327
MIRT613236	hsa-miR-1208	HITS-CLIP	23824327
MIRT613234	hsa-miR-8064	HITS-CLIP	23824327
MIRT613235	hsa-miR-6740-5p	HITS-CLIP	23824327
MIRT613233	hsa-miR-19a-5p	HITS-CLIP	23824327
MIRT613232	hsa-miR-19b-1-5p	HITS-CLIP	23824327
MIRT613231	hsa-miR-19b-2-5p	HITS-CLIP	23824327
MIRT613230	hsa-miR-5587-5p	HITS-CLIP	23824327
MIRT613229	hsa-miR-133a-3p	HITS-CLIP	23824327
MIRT613228	hsa-miR-133b	HITS-CLIP	23824327
MIRT613227	hsa-miR-758-3p	HITS-CLIP	23824327
MIRT613226	hsa-miR-450b-5p	HITS-CLIP	23824327
MIRT613225	hsa-miR-507	HITS-CLIP	23824327
MIRT613224	hsa-miR-557	HITS-CLIP	23824327
MIRT613223	hsa-miR-3680-3p	HITS-CLIP	23824327
MIRT613239	hsa-miR-892c-3p	HITS-CLIP	23824327
MIRT613237	hsa-miR-4676-3p	HITS-CLIP	23824327
MIRT613238	hsa-miR-452-5p	HITS-CLIP	23824327
MIRT613236	hsa-miR-1208	HITS-CLIP	23824327
MIRT613234	hsa-miR-8064	HITS-CLIP	23824327
MIRT613235	hsa-miR-6740-5p	HITS-CLIP	23824327
MIRT613233	hsa-miR-19a-5p	HITS-CLIP	23824327
MIRT613232	hsa-miR-19b-1-5p	HITS-CLIP	23824327
MIRT613231	hsa-miR-19b-2-5p	HITS-CLIP	23824327
MIRT613230	hsa-miR-5587-5p	HITS-CLIP	23824327
MIRT613229	hsa-miR-133a-3p	HITS-CLIP	23824327
MIRT613228	hsa-miR-133b	HITS-CLIP	23824327
MIRT613227	hsa-miR-758-3p	HITS-CLIP	23824327
MIRT613226	hsa-miR-450b-5p	HITS-CLIP	23824327
MIRT613225	hsa-miR-507	HITS-CLIP	23824327
MIRT613224	hsa-miR-557	HITS-CLIP	23824327
MIRT613223	hsa-miR-3680-3p	HITS-CLIP	23824327
MIRT613239	hsa-miR-892c-3p	HITS-CLIP	23824327
MIRT613237	hsa-miR-4676-3p	HITS-CLIP	23824327
MIRT613238	hsa-miR-452-5p	HITS-CLIP	23824327
MIRT613236	hsa-miR-1208	HITS-CLIP	23824327
MIRT613234	hsa-miR-8064	HITS-CLIP	23824327
MIRT613235	hsa-miR-6740-5p	HITS-CLIP	23824327
MIRT613233	hsa-miR-19a-5p	HITS-CLIP	23824327
MIRT613232	hsa-miR-19b-1-5p	HITS-CLIP	23824327
MIRT613231	hsa-miR-19b-2-5p	HITS-CLIP	23824327
MIRT613230	hsa-miR-5587-5p	HITS-CLIP	23824327
MIRT613229	hsa-miR-133a-3p	HITS-CLIP	23824327
MIRT613228	hsa-miR-133b	HITS-CLIP	23824327
MIRT613227	hsa-miR-758-3p	HITS-CLIP	23824327
MIRT613226	hsa-miR-450b-5p	HITS-CLIP	23824327
MIRT613225	hsa-miR-507	HITS-CLIP	23824327
MIRT613224	hsa-miR-557	HITS-CLIP	23824327
MIRT613223	hsa-miR-3680-3p	HITS-CLIP	23824327
MIRT613239	hsa-miR-892c-3p	HITS-CLIP	23824327
MIRT613237	hsa-miR-4676-3p	HITS-CLIP	23824327
MIRT613238	hsa-miR-452-5p	HITS-CLIP	23824327
MIRT613236	hsa-miR-1208	HITS-CLIP	23824327
MIRT613234	hsa-miR-8064	HITS-CLIP	23824327
MIRT613235	hsa-miR-6740-5p	HITS-CLIP	23824327
MIRT613233	hsa-miR-19a-5p	HITS-CLIP	23824327
MIRT613232	hsa-miR-19b-1-5p	HITS-CLIP	23824327
MIRT613231	hsa-miR-19b-2-5p	HITS-CLIP	23824327
MIRT613230	hsa-miR-5587-5p	HITS-CLIP	23824327
MIRT613229	hsa-miR-133a-3p	HITS-CLIP	23824327
MIRT613228	hsa-miR-133b	HITS-CLIP	23824327
MIRT613227	hsa-miR-758-3p	HITS-CLIP	23824327
MIRT613226	hsa-miR-450b-5p	HITS-CLIP	23824327
MIRT613225	hsa-miR-507	HITS-CLIP	23824327
MIRT613224	hsa-miR-557	HITS-CLIP	23824327
MIRT613223	hsa-miR-3680-3p	HITS-CLIP	23824327
MIRT613239	hsa-miR-892c-3p	HITS-CLIP	23824327
MIRT613237	hsa-miR-4676-3p	HITS-CLIP	23824327
MIRT613238	hsa-miR-452-5p	HITS-CLIP	23824327
MIRT613236	hsa-miR-1208	HITS-CLIP	23824327
MIRT613234	hsa-miR-8064	HITS-CLIP	23824327
MIRT613235	hsa-miR-6740-5p	HITS-CLIP	23824327
MIRT613233	hsa-miR-19a-5p	HITS-CLIP	23824327
MIRT613232	hsa-miR-19b-1-5p	HITS-CLIP	23824327
MIRT613231	hsa-miR-19b-2-5p	HITS-CLIP	23824327
MIRT613230	hsa-miR-5587-5p	HITS-CLIP	23824327
MIRT613229	hsa-miR-133a-3p	HITS-CLIP	23824327
MIRT613228	hsa-miR-133b	HITS-CLIP	23824327
MIRT613227	hsa-miR-758-3p	HITS-CLIP	23824327
MIRT613226	hsa-miR-450b-5p	HITS-CLIP	23824327
MIRT613225	hsa-miR-507	HITS-CLIP	23824327
MIRT613224	hsa-miR-557	HITS-CLIP	23824327
MIRT613223	hsa-miR-3680-3p	HITS-CLIP	23824327
MIRT613239	hsa-miR-892c-3p	HITS-CLIP	23824327
MIRT613237	hsa-miR-4676-3p	HITS-CLIP	23824327
MIRT613238	hsa-miR-452-5p	HITS-CLIP	23824327
MIRT613236	hsa-miR-1208	HITS-CLIP	23824327
MIRT613234	hsa-miR-8064	HITS-CLIP	23824327
MIRT613235	hsa-miR-6740-5p	HITS-CLIP	23824327
MIRT613233	hsa-miR-19a-5p	HITS-CLIP	23824327
MIRT613232	hsa-miR-19b-1-5p	HITS-CLIP	23824327
MIRT613231	hsa-miR-19b-2-5p	HITS-CLIP	23824327
MIRT613230	hsa-miR-5587-5p	HITS-CLIP	23824327
MIRT613229	hsa-miR-133a-3p	HITS-CLIP	23824327
MIRT613228	hsa-miR-133b	HITS-CLIP	23824327
MIRT613227	hsa-miR-758-3p	HITS-CLIP	23824327
MIRT613226	hsa-miR-450b-5p	HITS-CLIP	23824327
MIRT613225	hsa-miR-507	HITS-CLIP	23824327
MIRT613224	hsa-miR-557	HITS-CLIP	23824327
MIRT613223	hsa-miR-3680-3p	HITS-CLIP	23824327
MIRT712571	hsa-miR-4709-5p	HITS-CLIP	19536157
MIRT712570	hsa-miR-4742-3p	HITS-CLIP	19536157
MIRT712569	hsa-miR-421	HITS-CLIP	19536157
MIRT712568	hsa-miR-335-3p	HITS-CLIP	19536157
MIRT712571	hsa-miR-4709-5p	HITS-CLIP	19536157
MIRT712570	hsa-miR-4742-3p	HITS-CLIP	19536157
MIRT712569	hsa-miR-421	HITS-CLIP	19536157
MIRT712568	hsa-miR-335-3p	HITS-CLIP	19536157
MIRT613239	hsa-miR-892c-3p	HITS-CLIP	23824327
MIRT613237	hsa-miR-4676-3p	HITS-CLIP	23824327
MIRT613238	hsa-miR-452-5p	HITS-CLIP	23824327
MIRT613236	hsa-miR-1208	HITS-CLIP	23824327
MIRT613234	hsa-miR-8064	HITS-CLIP	23824327
MIRT613235	hsa-miR-6740-5p	HITS-CLIP	23824327
MIRT613233	hsa-miR-19a-5p	HITS-CLIP	23824327
MIRT613232	hsa-miR-19b-1-5p	HITS-CLIP	23824327
MIRT613231	hsa-miR-19b-2-5p	HITS-CLIP	23824327
MIRT613230	hsa-miR-5587-5p	HITS-CLIP	23824327
MIRT613229	hsa-miR-133a-3p	HITS-CLIP	23824327
MIRT613228	hsa-miR-133b	HITS-CLIP	23824327
MIRT613227	hsa-miR-758-3p	HITS-CLIP	23824327
MIRT613226	hsa-miR-450b-5p	HITS-CLIP	23824327
MIRT613225	hsa-miR-507	HITS-CLIP	23824327
MIRT613224	hsa-miR-557	HITS-CLIP	23824327
MIRT613223	hsa-miR-3680-3p	HITS-CLIP	23824327
MIRT613239	hsa-miR-892c-3p	HITS-CLIP	23824327
MIRT613237	hsa-miR-4676-3p	HITS-CLIP	23824327
MIRT613238	hsa-miR-452-5p	HITS-CLIP	23824327
MIRT613236	hsa-miR-1208	HITS-CLIP	23824327
MIRT613234	hsa-miR-8064	HITS-CLIP	23824327
MIRT613235	hsa-miR-6740-5p	HITS-CLIP	23824327
MIRT613233	hsa-miR-19a-5p	HITS-CLIP	23824327
MIRT613232	hsa-miR-19b-1-5p	HITS-CLIP	23824327
MIRT613231	hsa-miR-19b-2-5p	HITS-CLIP	23824327
MIRT613230	hsa-miR-5587-5p	HITS-CLIP	23824327
MIRT613229	hsa-miR-133a-3p	HITS-CLIP	23824327
MIRT613228	hsa-miR-133b	HITS-CLIP	23824327
MIRT613227	hsa-miR-758-3p	HITS-CLIP	23824327
MIRT613226	hsa-miR-450b-5p	HITS-CLIP	23824327
MIRT613225	hsa-miR-507	HITS-CLIP	23824327
MIRT613224	hsa-miR-557	HITS-CLIP	23824327
MIRT613223	hsa-miR-3680-3p	HITS-CLIP	23824327
MIRT613239	hsa-miR-892c-3p	HITS-CLIP	23824327
MIRT613237	hsa-miR-4676-3p	HITS-CLIP	23824327
MIRT613238	hsa-miR-452-5p	HITS-CLIP	23824327
MIRT613236	hsa-miR-1208	HITS-CLIP	23824327
MIRT613234	hsa-miR-8064	HITS-CLIP	23824327
MIRT613235	hsa-miR-6740-5p	HITS-CLIP	23824327
MIRT613233	hsa-miR-19a-5p	HITS-CLIP	23824327
MIRT613232	hsa-miR-19b-1-5p	HITS-CLIP	23824327
MIRT613231	hsa-miR-19b-2-5p	HITS-CLIP	23824327
MIRT613230	hsa-miR-5587-5p	HITS-CLIP	23824327
MIRT613229	hsa-miR-133a-3p	HITS-CLIP	23824327
MIRT613228	hsa-miR-133b	HITS-CLIP	23824327
MIRT613227	hsa-miR-758-3p	HITS-CLIP	23824327
MIRT613226	hsa-miR-450b-5p	HITS-CLIP	23824327
MIRT613225	hsa-miR-507	HITS-CLIP	23824327
MIRT613224	hsa-miR-557	HITS-CLIP	23824327
MIRT613223	hsa-miR-3680-3p	HITS-CLIP	23824327
MIRT613239	hsa-miR-892c-3p	HITS-CLIP	23824327
MIRT613237	hsa-miR-4676-3p	HITS-CLIP	23824327
MIRT613238	hsa-miR-452-5p	HITS-CLIP	23824327
MIRT613236	hsa-miR-1208	HITS-CLIP	23824327
MIRT613234	hsa-miR-8064	HITS-CLIP	23824327
MIRT613235	hsa-miR-6740-5p	HITS-CLIP	23824327
MIRT613233	hsa-miR-19a-5p	HITS-CLIP	23824327
MIRT613232	hsa-miR-19b-1-5p	HITS-CLIP	23824327
MIRT613231	hsa-miR-19b-2-5p	HITS-CLIP	23824327
MIRT613230	hsa-miR-5587-5p	HITS-CLIP	23824327
MIRT613229	hsa-miR-133a-3p	HITS-CLIP	23824327
MIRT613228	hsa-miR-133b	HITS-CLIP	23824327
MIRT613227	hsa-miR-758-3p	HITS-CLIP	23824327
MIRT613226	hsa-miR-450b-5p	HITS-CLIP	23824327
MIRT613225	hsa-miR-507	HITS-CLIP	23824327
MIRT613224	hsa-miR-557	HITS-CLIP	23824327
MIRT613223	hsa-miR-3680-3p	HITS-CLIP	23824327
MIRT613239	hsa-miR-892c-3p	HITS-CLIP	23824327
MIRT613237	hsa-miR-4676-3p	HITS-CLIP	23824327
MIRT613238	hsa-miR-452-5p	HITS-CLIP	23824327
MIRT613236	hsa-miR-1208	HITS-CLIP	23824327
MIRT613234	hsa-miR-8064	HITS-CLIP	23824327
MIRT613235	hsa-miR-6740-5p	HITS-CLIP	23824327
MIRT613233	hsa-miR-19a-5p	HITS-CLIP	23824327
MIRT613232	hsa-miR-19b-1-5p	HITS-CLIP	23824327
MIRT613231	hsa-miR-19b-2-5p	HITS-CLIP	23824327
MIRT613230	hsa-miR-5587-5p	HITS-CLIP	23824327
MIRT613229	hsa-miR-133a-3p	HITS-CLIP	23824327
MIRT613228	hsa-miR-133b	HITS-CLIP	23824327
MIRT613227	hsa-miR-758-3p	HITS-CLIP	23824327
MIRT613226	hsa-miR-450b-5p	HITS-CLIP	23824327
MIRT613225	hsa-miR-507	HITS-CLIP	23824327
MIRT613224	hsa-miR-557	HITS-CLIP	23824327
MIRT613223	hsa-miR-3680-3p	HITS-CLIP	23824327
MIRT613239	hsa-miR-892c-3p	HITS-CLIP	23824327
MIRT613237	hsa-miR-4676-3p	HITS-CLIP	23824327
MIRT613238	hsa-miR-452-5p	HITS-CLIP	23824327
MIRT613236	hsa-miR-1208	HITS-CLIP	23824327
MIRT613234	hsa-miR-8064	HITS-CLIP	23824327
MIRT613235	hsa-miR-6740-5p	HITS-CLIP	23824327
MIRT613233	hsa-miR-19a-5p	HITS-CLIP	23824327
MIRT613232	hsa-miR-19b-1-5p	HITS-CLIP	23824327
MIRT613231	hsa-miR-19b-2-5p	HITS-CLIP	23824327
MIRT613230	hsa-miR-5587-5p	HITS-CLIP	23824327
MIRT613229	hsa-miR-133a-3p	HITS-CLIP	23824327
MIRT613228	hsa-miR-133b	HITS-CLIP	23824327
MIRT613227	hsa-miR-758-3p	HITS-CLIP	23824327
MIRT613226	hsa-miR-450b-5p	HITS-CLIP	23824327
MIRT613225	hsa-miR-507	HITS-CLIP	23824327
MIRT613224	hsa-miR-557	HITS-CLIP	23824327
MIRT613223	hsa-miR-3680-3p	HITS-CLIP	23824327
MIRT613239	hsa-miR-892c-3p	HITS-CLIP	23824327
MIRT613237	hsa-miR-4676-3p	HITS-CLIP	23824327
MIRT613238	hsa-miR-452-5p	HITS-CLIP	23824327
MIRT613236	hsa-miR-1208	HITS-CLIP	23824327
MIRT613234	hsa-miR-8064	HITS-CLIP	23824327
MIRT613235	hsa-miR-6740-5p	HITS-CLIP	23824327
MIRT613233	hsa-miR-19a-5p	HITS-CLIP	23824327
MIRT613232	hsa-miR-19b-1-5p	HITS-CLIP	23824327
MIRT613231	hsa-miR-19b-2-5p	HITS-CLIP	23824327
MIRT613230	hsa-miR-5587-5p	HITS-CLIP	23824327
MIRT613229	hsa-miR-133a-3p	HITS-CLIP	23824327
MIRT613228	hsa-miR-133b	HITS-CLIP	23824327
MIRT613227	hsa-miR-758-3p	HITS-CLIP	23824327
MIRT613226	hsa-miR-450b-5p	HITS-CLIP	23824327
MIRT613225	hsa-miR-507	HITS-CLIP	23824327
MIRT613224	hsa-miR-557	HITS-CLIP	23824327
MIRT613223	hsa-miR-3680-3p	HITS-CLIP	23824327
MIRT613239	hsa-miR-892c-3p	HITS-CLIP	23824327
MIRT613237	hsa-miR-4676-3p	HITS-CLIP	23824327
MIRT613238	hsa-miR-452-5p	HITS-CLIP	23824327
MIRT613236	hsa-miR-1208	HITS-CLIP	23824327
MIRT613234	hsa-miR-8064	HITS-CLIP	23824327
MIRT613235	hsa-miR-6740-5p	HITS-CLIP	23824327
MIRT613233	hsa-miR-19a-5p	HITS-CLIP	23824327
MIRT613232	hsa-miR-19b-1-5p	HITS-CLIP	23824327
MIRT613231	hsa-miR-19b-2-5p	HITS-CLIP	23824327
MIRT613230	hsa-miR-5587-5p	HITS-CLIP	23824327
MIRT613229	hsa-miR-133a-3p	HITS-CLIP	23824327
MIRT613228	hsa-miR-133b	HITS-CLIP	23824327
MIRT613227	hsa-miR-758-3p	HITS-CLIP	23824327
MIRT613226	hsa-miR-450b-5p	HITS-CLIP	23824327
MIRT613225	hsa-miR-507	HITS-CLIP	23824327
MIRT613224	hsa-miR-557	HITS-CLIP	23824327
MIRT613223	hsa-miR-3680-3p	HITS-CLIP	23824327
MIRT613239	hsa-miR-892c-3p	HITS-CLIP	23824327
MIRT613237	hsa-miR-4676-3p	HITS-CLIP	23824327
MIRT613238	hsa-miR-452-5p	HITS-CLIP	23824327
MIRT613236	hsa-miR-1208	HITS-CLIP	23824327
MIRT613234	hsa-miR-8064	HITS-CLIP	23824327
MIRT613235	hsa-miR-6740-5p	HITS-CLIP	23824327
MIRT613233	hsa-miR-19a-5p	HITS-CLIP	23824327
MIRT613232	hsa-miR-19b-1-5p	HITS-CLIP	23824327
MIRT613231	hsa-miR-19b-2-5p	HITS-CLIP	23824327
MIRT613230	hsa-miR-5587-5p	HITS-CLIP	23824327
MIRT613229	hsa-miR-133a-3p	HITS-CLIP	23824327
MIRT613228	hsa-miR-133b	HITS-CLIP	23824327
MIRT613227	hsa-miR-758-3p	HITS-CLIP	23824327
MIRT613226	hsa-miR-450b-5p	HITS-CLIP	23824327
MIRT613225	hsa-miR-507	HITS-CLIP	23824327
MIRT613224	hsa-miR-557	HITS-CLIP	23824327
MIRT613223	hsa-miR-3680-3p	HITS-CLIP	23824327
MIRT613239	hsa-miR-892c-3p	HITS-CLIP	23824327
MIRT613237	hsa-miR-4676-3p	HITS-CLIP	23824327
MIRT613238	hsa-miR-452-5p	HITS-CLIP	23824327
MIRT613236	hsa-miR-1208	HITS-CLIP	23824327
MIRT613234	hsa-miR-8064	HITS-CLIP	23824327
MIRT613235	hsa-miR-6740-5p	HITS-CLIP	23824327
MIRT613233	hsa-miR-19a-5p	HITS-CLIP	23824327
MIRT613232	hsa-miR-19b-1-5p	HITS-CLIP	23824327
MIRT613231	hsa-miR-19b-2-5p	HITS-CLIP	23824327
MIRT613230	hsa-miR-5587-5p	HITS-CLIP	23824327
MIRT613229	hsa-miR-133a-3p	HITS-CLIP	23824327
MIRT613228	hsa-miR-133b	HITS-CLIP	23824327
MIRT613227	hsa-miR-758-3p	HITS-CLIP	23824327
MIRT613226	hsa-miR-450b-5p	HITS-CLIP	23824327
MIRT613225	hsa-miR-507	HITS-CLIP	23824327
MIRT613224	hsa-miR-557	HITS-CLIP	23824327
MIRT613223	hsa-miR-3680-3p	HITS-CLIP	23824327
MIRT868878	hsa-miR-1275	CLIP-seq
MIRT868879	hsa-miR-129-5p	CLIP-seq
MIRT868880	hsa-miR-342-5p	CLIP-seq
MIRT868881	hsa-miR-4260	CLIP-seq
MIRT868882	hsa-miR-4651	CLIP-seq
MIRT868883	hsa-miR-4664-5p	CLIP-seq
MIRT868884	hsa-miR-4665-5p	CLIP-seq
MIRT868885	hsa-miR-608	CLIP-seq
MIRT1957819	hsa-miR-3132	CLIP-seq
MIRT868880	hsa-miR-342-5p	CLIP-seq
MIRT868882	hsa-miR-4651	CLIP-seq
MIRT868883	hsa-miR-4664-5p	CLIP-seq
MIRT868885	hsa-miR-608	CLIP-seq
MIRT2194852	hsa-miR-25	CLIP-seq
MIRT2194853	hsa-miR-32	CLIP-seq
MIRT2194854	hsa-miR-363	CLIP-seq
MIRT2194855	hsa-miR-367	CLIP-seq
MIRT2194856	hsa-miR-513a-3p	CLIP-seq
MIRT2194857	hsa-miR-518a-5p	CLIP-seq
MIRT2194858	hsa-miR-527	CLIP-seq
MIRT2194859	hsa-miR-92a	CLIP-seq
MIRT2194860	hsa-miR-92b	CLIP-seq
MIRT868879	hsa-miR-129-5p	CLIP-seq

Show/Hide all(46)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001947	Process	Heart looping	IMP	22693285
GO:0003341	Process	Cilium movement	IEA
GO:0003341	Process	Cilium movement	IMP	22499950
GO:0003351	Process	Epithelial cilium movement involved in extracellular fluid movement	IEA
GO:0003356	Process	Regulation of cilium beat frequency	IMP	23255504
GO:0005576	Component	Extracellular region	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005929	Component	Cilium	IDA	27120127
GO:0005929	Component	Cilium	IEA
GO:0005930	Component	Axoneme	IBA
GO:0005930	Component	Axoneme	IDA	21131972, 21131974, 26387594
GO:0005930	Component	Axoneme	IEA
GO:0007368	Process	Determination of left/right symmetry	IEA
GO:0007399	Process	Nervous system development	IEA
GO:0007420	Process	Brain development	IEA
GO:0007507	Process	Heart development	IEA
GO:0014004	Process	Microglia differentiation	IEA
GO:0021987	Process	Cerebral cortex development	IEA
GO:0022010	Process	Central nervous system myelination	IEA
GO:0030317	Process	Flagellated sperm motility	IMP	23255504
GO:0030324	Process	Lung development	IMP	22693285
GO:0035469	Process	Determination of pancreatic left/right asymmetry	IMP	22693285
GO:0036159	Process	Inner dynein arm assembly	IBA
GO:0036159	Process	Inner dynein arm assembly	IEA
GO:0036159	Process	Inner dynein arm assembly	IEA
GO:0036159	Process	Inner dynein arm assembly	IMP	23255504
GO:0040011	Process	Locomotion	IEA
GO:0042551	Process	Neuron maturation	IEA
GO:0042995	Component	Cell projection	IEA
GO:0044458	Process	Motile cilium assembly	IMP	23255504
GO:0048812	Process	Neuron projection morphogenesis	IEA
GO:0051649	Process	Establishment of localization in cell	IEA
GO:0060074	Process	Synapse maturation	IEA
GO:0060285	Process	Cilium-dependent cell motility	IBA
GO:0060285	Process	Cilium-dependent cell motility	IMP	21131972
GO:0060287	Process	Epithelial cilium movement involved in determination of left/right asymmetry	IBA
GO:0060287	Process	Epithelial cilium movement involved in determination of left/right asymmetry	IMP	21131972
GO:0061512	Process	Protein localization to cilium	IEA
GO:0061966	Process	Establishment of left/right asymmetry	IEA
GO:0070286	Process	Axonemal dynein complex assembly	IMP	21131972
GO:0071907	Process	Determination of digestive tract left/right asymmetry	IMP	22693285
GO:0071910	Process	Determination of liver left/right asymmetry	IMP	22693285
GO:0090660	Process	Cerebrospinal fluid circulation	IEA
GO:0150076	Process	Neuroinflammatory response	IEA

MIM	HGNC	e!Ensembl
613798	25244	ENSG00000284862

Protein

UniProt ID

Q9UFE4

Protein name

Coiled-coil domain-containing protein 39

Protein function

Required for assembly of dynein regulatory complex (DRC) and inner dynein arm (IDA) complexes, which are responsible for ciliary beat regulation, thereby playing a central role in motility in cilia and flagella (PubMed:21131972). Probably acts t

PDB

8J07

Family and domains

Tissue specificity

TISSUE SPECIFICITY: Mainly expressed in nasal brushings and, to a lesser extent, in lungs and testis. {ECO:0000269|PubMed:21131972}.

Sequence

MSSEFLAELHWEDGFAIPVANEENKLLEDQLSKLKDERASLQDELREYEERINSMTSHFK
NVKQELSITQSLCKARERETESEEHFKAIAQRELGRVKDEIQRLENEMASILEKKSDKEN
GIFKATQKLDGLKCQMNWDQQALEAWLEESAHKDSDALTLQKYAQQDDNKIRALTLQLER
LTLECNQKRKILDNELTETISAQLELDKAAQDFRKIHNERQELIKQWENTIEQMQKRDGD
IDNCALELARIKQETREKENLVKEKIKFLESEIGNNTEFEKRISVADRKLLKCRTAYQDH
ETSRIQLKGELDSLKATVNRTSSDLEALRKNISKIKKDIHEETARLQKTKNHNEIIQTKL
KEITEKTMSVEEKATNLEDMLKEEEKDVKEVDVQLNLIKGVLFKKAQELQTETMKEKAVL
SEIEGTRSSLKHLNHQLQKLDFETLKQQEIMYSQDFHIQQVERRMSRLKGEINSEEKQAL
EAKIVELRKSLEEKKSTCGLLETQIKKLHNDLYFIKKAHSKNSDEKQSLMTKINELNLFI
DRSEKELDKAKGFKQDLMIEDNLLKLEVKRTREMLHSKAEEVLSLEKRKQQLYTAMEERT
EEIKVHKTMLASQIRYVDQERENISTEFRERLSKIEKLKNRYEILTVVMLPPEGEEEKTQ
AYYVIKAAQEKEELQREGDCLDAKINKAEKEIYALENTLQVLNSCNNNYKQSFKKVTPSS
DEYELKIQLEEQKRAVDEKYRYKQRQIRELQEDIQSMENTLDVIEHLANNVKEKLSEKQA
YSFQLSKETEEQKPKLERVTKQCAKLTKEIRLLKDTKDETMEEQDIKLREMKQFHKVIDE
MLVDIIEENTEIRIILQTYFQQSGLELPTASTKGSRQSSRSPSHTSLSARSSRSTSTSTS
QSSIKVLELKFPASSSLVGSPSRPSSASSSSSNVKSKKSSK

Sequence length

941

Interactions

View interactions

Show/Hide Causal Diseases (2)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Ciliary dyskinesia	primary ciliary dyskinesia, Primary ciliary dyskinesia 14	rs1560090006, rs863224531, rs757823891, rs1553800956, rs397515392, rs1553805740, rs1560092160, rs756235547, rs771057685, rs1210953680, rs1553804100, rs778577109, rs1007345781, rs587778820, rs1275367324 View all (28 more)	N/A
Heterotaxia	Heterotaxy	rs1560086701	N/A

Show/Hide Unknown Diseases (1)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Ellis-Van Creveld Syndrome	ellis-van creveld syndrome	N/A	N/A	ClinVar

Show/Hide Text Mining Associations (13)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Arm Injuries	Associate	39383539
Ciliary Motility Disorders	Associate	22499950, 23255504, 25186273, 25493340, 30067075, 33479112, 33577779, 35795318, 37660113, 37998386, 38072392, 38154480, 39383539, 39879322
Cleft Lip	Associate	28230599
Congenital Abnormalities	Associate	23255504, 30067075
Immotile cilia syndrome due to defective radial spokes	Associate	23255504
Inflammation	Associate	37660113
Kartagener Syndrome	Associate	35795318
Lung Diseases	Associate	25493340
Lung Injury	Associate	30067075
Lung Neoplasms	Associate	33896828
Metatropic dwarfism	Associate	25493340, 30067075, 39383539
Respiratory Distress Syndrome Newborn	Associate	33479112
Situs Inversus	Associate	35795318

CCDC39 (coiled-coil domain 39 molecular ruler complex subunit)