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The protein encoded by this gene is a Kazal-type serine protease inhibitor that acts on kallikrein-related peptidases in the skin. Two transcript variants the same protein have been found for this gene. [provided by RefSeq, Aug 2010]
SPINK6 (Serine Peptidase Inhibitor Kazal Type 6) is a Protein Coding gene. Diseases associated with SPINK6 include Pompholyx. Among its related pathways are Keratinization and Developmental Biology. Gene Ontology (GO) annotations related to this gene include serine-type endopeptidase inhibitor activity. An important paralog of this gene is SPINK5.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0004867 | serine-type endopeptidase inhibitor activity | IBA | 21873635 |
GO:0005515 | protein binding | IEA | -- |
GO:0030414 | peptidase inhibitor activity | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005576 | extracellular region | TAS | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Keratinization |
.33
|
|
2 | Developmental Biology |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0007275 | multicellular organism development | IBA | 21873635 |
GO:0007417 | central nervous system development | IBA | 21873635 |
GO:0010466 | negative regulation of peptidase activity | IEA | -- |
GO:0030154 | cell differentiation | IBA | 21873635 |
GO:0070268 | cornification | TAS | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Leucine - Reduced Carbonyl | Experimental | Pharma | Target | 0 |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | SPINK6 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | SPINK6 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | SPINK6 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | SPINK6 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | SPINK6 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Spink6 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | SPINK6 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 05 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs12186491 | - | p.Pro36Thr |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv1643002 | CNV | insertion | 17803354 |
esv2730896 | CNV | deletion | 23290073 |
esv3342088 | CNV | insertion | 20981092 |
esv3607101 | CNV | loss | 21293372 |
esv3607102 | CNV | loss | 21293372 |
nsv830515 | CNV | gain+loss | 17160897 |
Disorder | Aliases | PubMed IDs |
---|---|---|
pompholyx |
|
|