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This protein encoded by this gene belongs to the WD repeat-containing family of proteins, which function in the formation of protein-protein complexes in a variety of biological pathways. This family member appears to function in the determination of mean platelet volume (MPV), and polymorphisms in this gene have been associated with variance in MPV. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Sep 2011]
CFAP251 (Cilia And Flagella Associated Protein 251) is a Protein Coding gene. Diseases associated with CFAP251 include Spermatogenic Failure 33 and Non-Syndromic Male Infertility Due To Sperm Motility Disorder. An important paralog of this gene is EML5.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001536 | colocalizes_with radial spoke stalk | ISS | -- |
GO:0005737 | cytoplasm | IEA | -- |
GO:0005856 | cytoskeleton | IEA | -- |
GO:0005929 | cilium | IEA | -- |
GO:0005930 | axoneme | ISS | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003341 | cilium movement | ISS | -- |
GO:0030317 | flagellated sperm motility | IMP | 30122540 |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | WDR66 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | WDR66 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | WDR66 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Wdr66 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Wdr66 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | WDR66 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | WDR66 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | WDR66 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | WDR66 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | wdr66 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | wdr66 30 31 |
|
OneToOne | |
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP007799 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 12 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
797705 | Likely Benign: not provided | 121,954,206(+) | G/A | SYNONYMOUS_VARIANT | |
rs12824001 | -. - | p.Glu61Glyp.Gly66Glu | |||
rs1565912409 | Pathogenic: dysplasia of the mitochondrial sheath; multiple morphologic abnormalities of the sperm flagellum; SPERMATOGENIC FAILURE 33; asthenozoospermia | 121,957,125(+) | CCT/C | FRAMESHIFT_VARIANT | |
rs199671406 | Pathogenic: Non-syndromic male infertility due to sperm motility disorder; Male infertility with teratozoospermia due to single gene mutation; SPERMATOGENIC FAILURE 33 | 121,921,636(+) | G/T | NONSENSE | |
rs749163856 | Pathogenic: Non-syndromic male infertility due to sperm motility disorder; Male infertility with teratozoospermia due to single gene mutation; SPERMATOGENIC FAILURE 33 | 121,921,424(+) | CA/C | FRAMESHIFT_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2659581 | CNV | deletion | 23128226 |
esv3630963 | CNV | loss | 21293372 |
esv3630964 | CNV | loss | 21293372 |
esv3630965 | CNV | gain | 21293372 |
Disorder | Aliases | PubMed IDs |
---|---|---|
spermatogenic failure 33 |
|
|
non-syndromic male infertility due to sperm motility disorder |
|
|
male infertility with teratozoospermia due to single gene mutation |
|
|
spermatogenic failure 3 |
|
|
spermatogenic failure 18 |
|
|