Free for academic non-profit institutions. Other users need a Commercial license
This gene encodes a coiled-coil domain-containing protein that is a component of the outer dynein arm docking complex in cilia cells. Mutations in this gene may cause primary ciliary dyskinesia 20. [provided by RefSeq, May 2013]
CCDC114 (Coiled-Coil Domain Containing 114) is a Protein Coding gene. Diseases associated with CCDC114 include Ciliary Dyskinesia, Primary, 20 and Primary Ciliary Dyskinesia. An important paralog of this gene is CCDC63.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 25192045 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005929 | cilium | IEA,IDA | 23261303 |
GO:0005930 | axoneme | IDA | 25192045 |
GO:0036157 | outer dynein arm | IMP | 23261303 |
GO:0042995 | cell projection | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003341 | cilium movement | IMP | 23261302 |
GO:0036158 | outer dynein arm assembly | IBA,IMP | 23261302 |
ExUns: | 1a | · | 1b | · | 1c | · | 1d | ^ | 2a | · | 2b | · | 2c | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | · | 6c | · | 6d | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10a | · | 10b | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14a | · | 14b | ^ | 15 | ^ | 16 | ^ |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP4: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP5: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP6: | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
SP7: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP8: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP9: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP10: | - | - | - | - | - | - | - | - | - | - |
ExUns: | 17 | ^ | 18 | ^ | 19 | ^ | 20 |
---|---|---|---|---|---|---|---|
SP1: | |||||||
SP2: | |||||||
SP3: | |||||||
SP4: | |||||||
SP5: | |||||||
SP6: | |||||||
SP7: | |||||||
SP8: | |||||||
SP9: | |||||||
SP10: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | CCDC114 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | CCDC114 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | CCDC114 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Ccdc114 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Ccdc114 30 |
|
||
Lizard (Anolis carolinensis) |
Reptilia | CCDC114 31 |
|
OneToOne | |
Zebrafish (Danio rerio) |
Actinopterygii | CCDC114 31 |
|
OneToOne | |
Fruit Fly (Drosophila melanogaster) |
Insecta | CG14905 31 |
|
ManyToMany | |
CG17083 31 |
|
ManyToMany | |||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 19 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
648553 | Uncertain Significance: Primary ciliary dyskinesia | 48,303,988(-) | G/A | MISSENSE_VARIANT | |
649198 | Uncertain Significance: Primary ciliary dyskinesia | 48,311,643(-) | C/G | MISSENSE_VARIANT | |
652723 | Uncertain Significance: Primary ciliary dyskinesia | 48,297,459(-) | C/CGCGGCG | INFRAME_INSERTION | |
653574 | Uncertain Significance: Primary ciliary dyskinesia | 48,311,584(-) | C/T | MISSENSE_VARIANT | |
653754 | Uncertain Significance: Primary ciliary dyskinesia | 48,311,635(-) | C/T | MISSENSE_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv3616n100 | CNV | loss | 25217958 |
esv34181 | CNV | loss | 18971310 |
esv3644583 | CNV | gain | 21293372 |
nsv1109202 | CNV | deletion | 24896259 |
nsv469623 | CNV | loss | 16826518 |
nsv833854 | CNV | loss | 17160897 |
nsv9739 | CNV | gain+loss | 18304495 |
Disorder | Aliases | PubMed IDs |
---|---|---|
ciliary dyskinesia, primary, 20 |
|
|
primary ciliary dyskinesia |
|
|
kartagener syndrome |
|
|
ciliary dyskinesia, primary, 1 |
|
|
osteogenesis imperfecta, type xi |
|
|