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This gene encodes a protein component of the radial spoke head in flagella and motile cilia. Eukaryotic flagella and motile cilia share a common 9 + 2 structure, in which nine peripheral microtubule doublets (MTDs) surround a central-pair of microtubules (CP), with radial spokes connecting the MTDs to the CP. The radial spoke is a multi-protein complex that works as a mechanochemical transducer between the CP and the MTDs. The radial spoke contributes to the regulation of the activity of dynein motors, and thus to flagellar motility. PMID: 22754630 provides a good review of radial spokes. [provided by RefSeq, Jul 2017]
RSPH10B2 (Radial Spoke Head 10 Homolog B2) is a Protein Coding gene. Diseases associated with RSPH10B2 include Ciliary Dyskinesia, Primary, 13. An important paralog of this gene is RSPH10B.
ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5a | · | 5b | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9a | · | 9b | ^ | 10a | · | 10b | · | 10c | · | 10d | ^ | 11a | · | 11b | ^ | 12a | · | 12b | ^ | 13 | ^ | 14 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | ||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | |||||||||||||||||||||||||||||||||||||||
SP3: | - | ||||||||||||||||||||||||||||||||||||||||
SP4: | |||||||||||||||||||||||||||||||||||||||||
SP5: | - |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | LOC738574 30 |
|
||
-- 31 |
|
OneToMany | |||
Dog (Canis familiaris) |
Mammalia | RSPH10B 30 |
|
||
-- 31 |
|
OneToMany | |||
Cow (Bos Taurus) |
Mammalia | RSPH10B 30 |
|
||
-- 31 |
|
OneToMany | |||
Rat (Rattus norvegicus) |
Mammalia | Rsph10b 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Rsph10b 30 17 31 |
|
OneToMany | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
OneToMany | |
Chicken (Gallus gallus) |
Aves | RSPH10B 30 |
|
||
-- 31 |
|
OneToMany | |||
Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
ManyToMany | |
-- 31 |
|
ManyToMany | |||
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | rsph10b 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | zgc:153062 30 |
|
||
RSPH10B 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 07 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
770736 | Benign: not provided | 6,779,690(+) | C/T | MISSENSE_VARIANT | |
rs17855578 | - | p.Glu836Lys |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv1864e212 | CNV | loss | 25503493 |
dgv1865e212 | CNV | loss | 25503493 |
dgv1866e212 | CNV | loss | 25503493 |
dgv1867e212 | CNV | loss | 25503493 |
dgv6241n100 | CNV | gain | 25217958 |
dgv6243n100 | CNV | loss | 25217958 |
esv2752174 | CNV | gain | 17911159 |
esv2759504 | CNV | loss | 17122850 |
esv2762647 | CNV | gain | 21179565 |
esv33385 | CNV | gain | 17666407 |
esv3571591 | CNV | loss | 25503493 |
esv3571605 | CNV | loss | 25503493 |
nsv1017061 | CNV | loss | 25217958 |
nsv1034916 | CNV | gain | 25217958 |
nsv1074069 | CNV | deletion | 25765185 |
nsv1077484 | CNV | duplication | 25765185 |
nsv1141527 | CNV | duplication | 24896259 |
nsv1147398 | CNV | duplication | 26484159 |
nsv1153955 | CNV | duplication | 26484159 |
nsv436904 | CNV | insertion | 17901297 |
nsv7392 | OTHER | inversion | 18451855 |
nsv8037 | CNV | gain | 18304495 |
nsv8040 | CNV | gain | 18304495 |
nsv830892 | CNV | loss | 17160897 |
nsv830894 | CNV | loss | 17160897 |
nsv966754 | CNV | duplication | 23825009 |
nsv970789 | CNV | duplication | 23825009 |
Disorder | Aliases | PubMed IDs |
---|---|---|
ciliary dyskinesia, primary, 13 |
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|