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This gene belongs to the CFAP53 family. It was found to be differentially expressed by the ciliated cells of frog epidermis and in skin fibroblasts from human. Mutations in this gene are associated with visceral heterotaxy-6, which implicates this gene in determination of left-right asymmetric patterning. [provided by RefSeq, Aug 2015]
CFAP53 (Cilia And Flagella Associated Protein 53) is a Protein Coding gene. Diseases associated with CFAP53 include Heterotaxy, Visceral, 6, Autosomal and Visceral Heterotaxy.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 25416956 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005575 | cellular_component | ND | -- |
GO:0005576 | extracellular region | IEA | -- |
GO:0005929 | cilium | IEA | -- |
GO:0042995 | cell projection | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003341 | cilium movement | ISS | -- |
GO:0007275 | multicellular organism development | IEA | -- |
GO:0007368 | determination of left/right symmetry | IMP | 26531781 |
GO:0060271 | cilium assembly | IEA | -- |
GO:0060287 | epithelial cilium movement involved in determination of left/right asymmetry | ISS | -- |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | CCDC11 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | CCDC11 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | CCDC11 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Ccdc11 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Ccdc11 30 31 |
|
OneToOne | |
Cfap53 17 |
|
||||
Platypus (Ornithorhynchus anatinus) |
Mammalia | CCDC11 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | CCDC11 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | CCDC11 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | ccdc11 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | LOC101883738 30 |
|
||
ccdc11 31 |
|
OneToOne | |||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 18 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
957789 | Uncertain Significance: Heterotaxy, visceral, 6, autosomal | 50,243,080(-) |
A/G NM_145020.5(CFAP53):c.1033T>C (p.Tyr345His) |
MISSENSE | |
959683 | Uncertain Significance: Heterotaxy, visceral, 6, autosomal | 50,262,036(-) |
C/T NM_145020.5(CFAP53):c.253G>A (p.Asp85Asn) |
MISSENSE | |
960150 | Uncertain Significance: Heterotaxy, visceral, 6, autosomal | 50,251,489(-) |
G/A NM_145020.5(CFAP53):c.769C>T (p.Arg257Cys) |
MISSENSE | |
964003 | Uncertain Significance: Heterotaxy, visceral, 6, autosomal | 50,242,930(-) |
A/C NM_145020.5(CFAP53):c.1183T>G (p.Cys395Gly) |
MISSENSE | |
969306 | Uncertain Significance: Heterotaxy, visceral, 6, autosomal; none provided | 50,243,012(-) |
G/T NM_145020.5(CFAP53):c.1101C>A (p.Asp367Glu) |
MISSENSE |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv3416788 | CNV | insertion | 20981092 |
nsv1057599 | CNV | gain | 25217958 |
nsv576889 | CNV | loss | 21841781 |
Disorder | Aliases | PubMed IDs |
---|---|---|
heterotaxy, visceral, 6, autosomal |
|
|
visceral heterotaxy |
|
|
dextrocardia with situs inversus |
|
|
dextrocardia |
|
|
heterotaxy |
|
|