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.	55036
Gene name Gene Name - the full gene name approved by the HGNC.	Coiled-coil domain 40 molecular ruler complex subunit
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	CCDC40
Synonyms (NCBI Gene) Gene synonyms aliases	CFAP172, CILD15, FAP172
Chromosome Chromosome number	17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	17q25.3
Summary Summary of gene provided in NCBI Entrez Gene.	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

Show/Hide all(30)

SNP ID	Visualize variation	Clinical significance	Consequence
rs138001923	A>G	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, intron variant
rs200958035	G>A,C	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, missense variant
rs369089505	C>T	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, synonymous variant, genic upstream transcript variant, coding sequence variant
rs370706991	G>A,T	Likely-pathogenic, pathogenic	Genic downstream transcript variant, splice acceptor variant
rs371595543	A>T	Pathogenic, uncertain-significance	Non coding transcript variant, stop gained, coding sequence variant
rs387907091	C>T	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs387907092	C>A,T	Pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant, missense variant, non coding transcript variant
rs387907093	C>A,G,T	Pathogenic, uncertain-significance	Synonymous variant, stop gained, coding sequence variant, missense variant, non coding transcript variant
rs397515393	C>-	Pathogenic	Non coding transcript variant, genic upstream transcript variant, coding sequence variant, frameshift variant
rs587778819	->CTGT,TGT	Pathogenic	Coding sequence variant, frameshift variant, inframe indel, non coding transcript variant, genic downstream transcript variant
rs745993158	G>A	Likely-pathogenic	Splice donor variant, genic downstream transcript variant
rs747233125	C>G,T	Pathogenic	Coding sequence variant, stop gained, missense variant, non coding transcript variant, genic downstream transcript variant
rs750708201	A>G	Pathogenic	Splice acceptor variant, genic upstream transcript variant
rs751191119	GG>-	Pathogenic	Coding sequence variant, frameshift variant, downstream transcript variant, non coding transcript variant, genic downstream transcript variant
rs754867753	C>T	Pathogenic	Coding sequence variant, stop gained, genic upstream transcript variant, non coding transcript variant
rs755004291	C>G,T	Pathogenic	Coding sequence variant, stop gained, missense variant, genic downstream transcript variant, non coding transcript variant
rs762664261	A>C,G	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs764011276	G>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs764551914	C>T	Pathogenic	Coding sequence variant, stop gained, genic upstream transcript variant, non coding transcript variant
rs773796940	G>A,T	Pathogenic	Stop gained, missense variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs774081599	G>A	Likely-pathogenic	Genic downstream transcript variant, splice acceptor variant
rs775299709	G>A,T	Pathogenic	Missense variant, stop gained, non coding transcript variant, coding sequence variant
rs878855041	C>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant
rs878855042	->T	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant
rs886042621	G>C	Pathogenic	Splice donor variant
rs1060501719	CA>ACCG	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant
rs1278589861	->A	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, genic downstream transcript variant
rs1346603171	G>A	Likely-pathogenic	Splice donor variant, genic upstream transcript variant
rs1568667609	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained, genic upstream transcript variant
rs1568709952	G>T	Likely-pathogenic	Genic downstream transcript variant, downstream transcript variant, splice donor variant

Show/Hide all(8)

miRTarBase ID	miRNA	Experiments
MIRT868886	hsa-miR-3168	CLIP-seq
MIRT868887	hsa-miR-3649	CLIP-seq
MIRT868888	hsa-miR-4263	CLIP-seq
MIRT868889	hsa-miR-4324	CLIP-seq
MIRT868890	hsa-miR-4475	CLIP-seq
MIRT868891	hsa-miR-4521	CLIP-seq
MIRT868892	hsa-miR-4693-3p	CLIP-seq
MIRT868893	hsa-miR-492	CLIP-seq

Show/Hide all(37)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001947	Process	Heart looping	IBA
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	IMP	21131974
GO:0003356	Process	Regulation of cilium beat frequency	IMP	23255504
GO:0003356	Process	Regulation of cilium beat frequency	IMP	21131974
GO:0003674	Function	Molecular_function	ND
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005576	Component	Extracellular region	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	ISS
GO:0005929	Component	Cilium	IBA
GO:0005929	Component	Cilium	IDA	27120127
GO:0005929	Component	Cilium	IEA
GO:0005929	Component	Cilium	ISS
GO:0005930	Component	Axoneme	IDA	23255504
GO:0007368	Process	Determination of left/right symmetry	IEA
GO:0030317	Process	Flagellated sperm motility	IMP	23255504
GO:0030324	Process	Lung development	IEA
GO:0030324	Process	Lung development	IMP	22693285
GO:0031514	Component	Motile cilium	IEA
GO:0035082	Process	Axoneme assembly	IBA
GO:0035082	Process	Axoneme assembly	IEA
GO:0035082	Process	Axoneme assembly	IEA
GO:0035469	Process	Determination of pancreatic left/right asymmetry	IMP	22693285
GO:0036159	Process	Inner dynein arm assembly	IMP	23255504
GO:0042995	Component	Cell projection	IEA
GO:0044458	Process	Motile cilium assembly	IMP	23255504
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	IEA
GO:0060287	Process	Epithelial cilium movement involved in determination of left/right asymmetry	IMP	21131974
GO:0061512	Process	Protein localization to cilium	IEA
GO:0070286	Process	Axonemal dynein complex assembly	IMP	21131974
GO:0071907	Process	Determination of digestive tract left/right asymmetry	IMP	22693285
GO:0071910	Process	Determination of liver left/right asymmetry	IMP	22693285

MIM	HGNC	e!Ensembl
613799	26090	ENSG00000141519

Protein

UniProt ID

Q4G0X9

Protein name

Coiled-coil domain-containing protein 40

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:21131974). Probably acts t

PDB

8J07

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF08647	BRE1	780 → 878		Family

Sequence

MAEPGGAAGRSHPEDGSASEGEKEGNNESHMVSPPEKDDGQKGEEAVGSTEHPEEVTTQA
EAAIEEGEVETEGEAAVEGEEEAVSYGDAESEEEYYYTETSSPEGQISAADTTYPYFSPP
QELPGEEAYDSVSGEAGLQGFQQEATGPPESRERRVTSPEPSHGVLGPSEQMGQVTSGPA
VGRLTGSTEEPQGQVLPMGVQHRFRLSHGSDIESSDLEEFVSQEPVIPPGVPDAHPREGD
LPVFQDQIQQPSTEEGAMAERVESEGSDEEAEDEGSQLVVLDPDHPLMVRFQAALKNYLN
RQIEKLKLDLQELVVATKQSRAQRQELGVNLYEVQQHLVHLQKLLEKSHDRHAMASSERR
QKEEELQAARALYTKTCAAANEERKKLAALQTEMENLALHLFYMQNIDQDMRDDIRVMTQ
VVKKAETERIRAEIEKKKQDLYVDQLTTRAQQLEEDIALFEAQYLAQAEDTRILRKAVSE
ACTEIDAISVEKRRIMQQWASSLVGMKHRDEAHRAVLEALRGCQHQAKSTDGEIEAYKKS
IMKEEEKNEKLASILNRTETEATLLQKLTTQCLTKQVALQSQFNTYRLTLQDTEDALSQD
QLEQMILTEELQAIRQAIQGELELRRKTDAAIREKLQEHMTSNKTTKYFNQLILRLQKEK
TNMMTHLSKINGDIAQTTLDITHTSSRLDAHQKTLVELDQDVKKVNELITNSQSEISRRT
ILIERKQGLINFLNKQLERMVSELGGEEVGPLELEIKRLSKLIDEHDGKAVQAQVTWLRL
QQEMVKVTQEQEEQLASLDASKKELHIMEQKKLRVESKIEQEKKEQKEIEHHMKDLDNDL
KKLNMLMNKNRCSSEELEQNNRVTENEFVRSLKASERETIKMQDKLNQLSEEKATLLNQL
VEAEHQIMLWEKKIQLAKEMRSSVDSEIGQTEIRAMKGEIHRMKVRLGQLLKQQEKMIRA
MELAVARRETVTTQAEGQRKMDRKALTRTDFHHKQLELRRKIRDVRKATDECTKTVLELE
ETQRNVSSSLLEKQEKLSVIQADFDTLEADLTRLGALKRQNLSEIVALQTRLKHLQAVKE
GRYVFLFRSKQSLVLERQRLDKRLALIATILDRVRDEYPQFQEALHKVSQMIANKLESPG
PS

Sequence length

1142

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 15	rs1418585908, rs755004291, rs374909386, rs370706991, rs1278589861, rs754867753, rs774081599, rs397515393, rs1567818236, rs751191119, rs764011276, rs2038617610, rs863224519, rs773796940, rs387907092 View all (17 more)	N/A
Kartagener Syndrome	kartagener syndrome	rs745993158, rs587778819	N/A

Show/Hide Unknown Diseases (2)

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.
Autoimmune Diseases	autoimmune disease	N/A	N/A	GenCC
male infertility	Male infertility	N/A	N/A	ClinVar

Show/Hide Text Mining Associations (11)

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, 30067075, 30209139, 30296669, 31443223, 33577779, 34941110, 37998386, 38072392, 39383539, 39879322
Congenital Abnormalities	Associate	23255504, 30067075
Hypogonadism	Associate	33574797
Immotile cilia syndrome due to defective radial spokes	Associate	23255504
Infertility	Associate	34941110
Infertility Male	Associate	33574797
Kartagener Syndrome	Associate	31443223
Lung Diseases	Associate	25493340, 30209139
Lung Injury	Associate	30067075
Metatropic dwarfism	Associate	30067075, 39383539

CCDC40 (coiled-coil domain 40 molecular ruler complex subunit)