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KANK4 (KN Motif And Ankyrin Repeat Domains 4) is a Protein Coding gene. Diseases associated with KANK4 include Corneal Endothelial Dystrophy and Fuchs' Endothelial Dystrophy. An important paralog of this gene is KANK1.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 32296183 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005737 | cytoplasm | IBA,IDA | 25961457 |
GO:0005829 | cytosol | IDA | -- |
GO:0005856 | cytoskeleton | IBA | 21873635 |
GO:0015630 | microtubule cytoskeleton | IDA | -- |
Symbol | External ID(s) | Details |
---|---|---|
CDK3 | ||
CSK | ||
CUL5 | ||
ENSG00000272822 | ||
HAT1 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0030837 | negative regulation of actin filament polymerization | IBA | 21873635 |
ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5a | · | 5b | ^ | 6 | ^ | 7 | ^ | 8a | · | 8b | · | 8c | ^ | 9 | ^ | 10 | ^ | 11a | · | 11b | · | 11c |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | - | ||||||||||||||||||||||||||||
SP2: | - | - | - | ||||||||||||||||||||||||||||||
SP3: | - | - | |||||||||||||||||||||||||||||||
SP4: | |||||||||||||||||||||||||||||||||
SP5: | |||||||||||||||||||||||||||||||||
SP6: | - | - |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | KANK4 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | KANK4 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | KANK4 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Kank4 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Kank4 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | KANK4 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | KANK4 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | KANK4 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | KANK4 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | kank4 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | kank4 31 |
|
OneToOne | |
Fruit Fly (Drosophila melanogaster) |
Insecta | CG10249 31 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | vab-19 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.3164 31 |
|
ManyToMany | |
-- 31 |
|
ManyToMany |
SNP ID | Clinical significance and condition | Chr 01 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs111413521 | Benign: not provided | 62,273,554(-) |
C/T NM_181712.5(KANK4):c.1550G>A (p.Arg517Lys) |
MISSENSE_VARIANT,INTRON | |
rs112048152 | Benign: not provided | 62,273,875(-) |
G/A NM_181712.5(KANK4):c.1229C>T (p.Thr410Met) |
MISSENSE_VARIANT,INTRON | |
rs145623004 | Uncertain Significance: not provided. - | 62,263,230(-) |
A/Gp.Tyr801His NM_181712.5(KANK4):c.2401T>C (p.Tyr801His) |
MISSENSE | |
rs150098757 | Likely Benign: not provided | 62,273,870(-) |
C/T NM_181712.5(KANK4):c.1234G>A (p.Val412Met) |
MISSENSE_VARIANT,INTRON | |
rs370065609 | Uncertain Significance: not provided | 62,273,762(-) |
G/A NM_181712.5(KANK4):c.1342C>T (p.Arg448Ter) |
NONSENSE,INTRON |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2457868 | CNV | deletion | 19546169 |
esv2660405 | CNV | deletion | 23128226 |
esv3562982 | CNV | deletion | 23714750 |
esv3562993 | CNV | deletion | 23714750 |
esv3577900 | CNV | loss | 25503493 |
esv3586233 | CNV | loss | 21293372 |
esv3893601 | CNV | loss | 25118596 |
nsv1122353 | CNV | deletion | 24896259 |
nsv520333 | CNV | loss | 19592680 |
nsv525191 | CNV | loss | 19592680 |
Disorder | Aliases | PubMed IDs |
---|---|---|
corneal endothelial dystrophy |
|
|
fuchs' endothelial dystrophy |
|
|
frasier syndrome |
|
|