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This gene encodes a member of the KN motif and ankyrin repeat domains (KANK) family of proteins, which play a role in cytoskeletal formation by regulating actin polymerization. The encoded protein functions in the sequestration of steroid receptor coactivators and possibly other proteins. Mutations in this gene are associated with impaired kidney podocyte function and nephrotic syndrome, and keratoderma and woolly hair. [provided by RefSeq, Jul 2016]
KANK2 (KN Motif And Ankyrin Repeat Domains 2) is a Protein Coding gene. Diseases associated with KANK2 include Palmoplantar Keratoderma And Woolly Hair and Nephrotic Syndrome, Type 16. An important paralog of this gene is KANK1.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 17476305 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005737 | cytoplasm | IBA,IDA | 17476305 |
GO:0005739 | mitochondrion | IEA,IDA | 22371500 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000122 | negative regulation of transcription by RNA polymerase II | IBA,IDA | 17476305 |
GO:0006915 | apoptotic process | IEA | -- |
GO:0008285 | negative regulation of cell proliferation | IBA,IDA | 17476305 |
GO:0033147 | negative regulation of intracellular estrogen receptor signaling pathway | IBA,IDA | 17476305 |
GO:0035023 | regulation of Rho protein signal transduction | IMP | 25961457 |
ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4a | · | 4b | · | 4c | · | 4d | ^ | 5 | ^ | 6a | · | 6b | ^ | 7a | · | 7b | · | 7c | · | 7d | · | 7e | · | 7f | ^ | 8 | ^ | 9a | · | 9b | · | 9c | ^ | 10 | ^ | 11 | ^ | 12a | · | 12b | ^ | 13 | ^ | 14 | ^ |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | - | - | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||
SP4: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP5: | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||
SP6: | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
SP7: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP8: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP9: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP10: |
ExUns: | 15 | ^ | 16 | ^ | 17a | · | 17b | · | 17c |
---|---|---|---|---|---|---|---|---|---|
SP1: | |||||||||
SP2: | |||||||||
SP3: | |||||||||
SP4: | |||||||||
SP5: | |||||||||
SP6: | |||||||||
SP7: | |||||||||
SP8: | |||||||||
SP9: | |||||||||
SP10: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | KANK2 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | KANK2 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | KANK2 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Kank2 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Kank2 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | KANK2 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | KANK2 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
OneToMany | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | kank2 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | LOC571549 30 |
|
||
kank2 31 |
|
OneToOne | |||
Fruit Fly (Drosophila melanogaster) |
Insecta | CG10249 31 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | vab-19 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
ManyToMany | |
CSA.3164 31 |
|
ManyToMany |
SNP ID | Clinical significance and condition | Chr 19 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
709957 | Likely Benign: not provided | 11,178,559(-) | C/T | MISSENSE_VARIANT | |
710381 | Benign: not provided | 11,193,491(-) | G/A | MISSENSE_VARIANT | |
713835 | Likely Benign: not provided | 11,170,213(-) | G/A | SYNONYMOUS_VARIANT | |
715318 | Benign: not provided | 11,193,042(-) | G/A | SYNONYMOUS_VARIANT | |
717273 | Benign: not provided | 11,174,555(-) | G/A | SYNONYMOUS_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv3427n100 | CNV | gain | 25217958 |
esv2658280 | CNV | deletion | 23128226 |
esv2718172 | CNV | deletion | 23290073 |
esv29212 | CNV | loss | 19812545 |
esv3097124 | CNV | deletion | 24192839 |
esv3556028 | CNV | deletion | 23714750 |
esv3643665 | CNV | loss | 21293372 |
esv3643666 | CNV | loss | 21293372 |
nsv1065030 | CNV | gain | 25217958 |
nsv522449 | CNV | loss | 19592680 |
nsv525977 | CNV | loss | 19592680 |
nsv578613 | CNV | gain | 21841781 |
Disorder | Aliases | PubMed IDs |
---|---|---|
palmoplantar keratoderma and woolly hair |
|
|
nephrotic syndrome, type 16 |
|
|
nephrotic syndrome |
|
|
pseudoainhum |
|
|
striate palmoplantar keratoderma |
|
|