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This gene encodes a centrosomal protein involved in microtubule organization, DNA damage response, and chromosome segregation. The encoded protein is required for assembly of primary cilia and localizes to mature centrioles. Defects in this gene are a cause of nephronophthisis-related ciliopathies. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012]
CEP164 (Centrosomal Protein 164) is a Protein Coding gene. Diseases associated with CEP164 include Nephronophthisis 15 and Senior-Loken Syndrome 1. Among its related pathways are Organelle biogenesis and maintenance and Regulation of PLK1 Activity at G2/M Transition. An important paralog of this gene is NUMA1.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IEA,IPI | 22863007 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005615 | extracellular space | HDA | 22664934 |
GO:0005634 | nucleus | IEA | -- |
GO:0005654 | nucleoplasm | IBA,IDA | -- |
GO:0005737 | cytoplasm | IEA | -- |
GO:0005813 | centrosome | IBA,IDA | 21399614 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Regulation of PLK1 Activity at G2/M Transition |
.50
|
|
2 | Cell Cycle, Mitotic |
.83
|
|
3 | Organelle biogenesis and maintenance |
.56
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000086 | G2/M transition of mitotic cell cycle | TAS | -- |
GO:0006281 | DNA repair | IEA | -- |
GO:0006974 | cellular response to DNA damage stimulus | IEA | -- |
GO:0007049 | cell cycle | IEA | -- |
GO:0010389 | regulation of G2/M transition of mitotic cell cycle | TAS | -- |
ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12a | · | 12b | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16 | ^ | 17 | ^ | 18 | ^ | 19 | ^ | 20 | ^ | 21 | ^ | 22 | ^ | 23 | ^ | 24a | · |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||
SP3: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP4: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP5: |
ExUns: | 24b | ^ | 25a | · | 25b | · | 25c | · | 25d | ^ | 26 | ^ | 27a | · | 27b | · | 27c | ^ | 28a | · | 28b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | ||||||||||||||||||||
SP2: | - | - | - | - | - | ||||||||||||||||
SP3: | - | - | |||||||||||||||||||
SP4: | |||||||||||||||||||||
SP5: | - |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | CEP164 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | CEP164 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | CEP164 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Cep164 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Cep164 30 17 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
Oppossum (Monodelphis domestica) |
Mammalia | CEP164 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | CEP164 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | CEP164 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | cep164 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | CABZ01087562.1 31 |
|
OneToOne | |
Fruit Fly (Drosophila melanogaster) |
Insecta | CG9170 31 |
|
OneToOne | |
Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.12255 30 |
|
SNP ID | Clinical significance and condition | Chr 11 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
641654 | Uncertain Significance: Nephronophthisis 15 | 117,394,943(+) | G/T | MISSENSE_VARIANT | |
645065 | Uncertain Significance: Nephronophthisis 15 | 117,371,129(+) | A/G | MISSENSE_VARIANT | |
706985 | Benign: Nephronophthisis 15 | 117,409,800(+) | A/C | MISSENSE_VARIANT | |
706986 | Benign: Nephronophthisis 15 | 117,409,806(+) | A/C | MISSENSE_VARIANT | |
707249 | Benign/Likely Benign: Nephronophthisis 15; not provided | 117,396,558(+) | C/T | SYNONYMOUS_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2678884 | CNV | deletion | 23128226 |
esv2745118 | CNV | deletion | 23290073 |
esv2745120 | CNV | deletion | 23290073 |
esv3627849 | CNV | gain | 21293372 |
esv3627850 | CNV | gain | 21293372 |
esv3627851 | CNV | loss | 21293372 |
esv3627853 | CNV | loss | 21293372 |
nsv1038815 | CNV | gain | 25217958 |
nsv1040918 | CNV | gain | 25217958 |
nsv1052364 | CNV | gain | 25217958 |
nsv39581 | CNV | deletion | 16902084 |
nsv477444 | CNV | novel sequence insertion | 20440878 |
nsv517908 | CNV | loss | 19592680 |
nsv972074 | CNV | duplication | 23825009 |
Disorder | Aliases | PubMed IDs |
---|---|---|
nephronophthisis 15 |
|
|
senior-loken syndrome 1 |
|
|
nephronophthisis |
|
|
nephronophthisis 18 |
|
|
interstitial nephritis |
|
|