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This gene encodes a multidomain serine protease inhibitor that contains 15 potential inhibitory domains. The encoded preproprotein is proteolytically processed to generate multiple protein products, which may exhibit unique activities and specificities. These proteins may play a role in skin and hair morphogenesis, as well as anti-inflammatory and antimicrobial protection of mucous epithelia. Mutations in this gene may result in Netherton syndrome, a disorder characterized by ichthyosis, defective cornification, and atopy. This gene is present in a gene cluster on chromosome 5. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]
SPINK5 (Serine Peptidase Inhibitor Kazal Type 5) is a Protein Coding gene. Diseases associated with SPINK5 include Netherton Syndrome and Ichthyosis Linearis Circumflexa. Among its related pathways are Developmental Biology and Cell adhesion_Plasmin signaling. Gene Ontology (GO) annotations related to this gene include serine-type endopeptidase inhibitor activity and peptidase inhibitor activity. An important paralog of this gene is FSTL4.
GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
---|---|---|---|---|---|---|---|---|---|---|
GH05J147947 | Promoter | 0.7 | EPDnew | 255.6 | -79.0 | -79047 | 0.1 | FOXA1 ZNF189 EGR1 ZFP69B CTBP1 POLR2A FOXK2 ZNF600 | SPINK5 lnc-SPINK5-1 EEF1GP2 C5orf46 | |
GH05J148063 | Promoter | 0.3 | EPDnew | 250.3 | +38.3 | 38278 | 0.1 | SPINK5 HSALNG0045692 HSALNG0045691 SPINK14 | ||
GH05J148011 | Enhancer | 0.9 | Ensembl ENCODE | 34.7 | -13.4 | -13358 | 1.9 | ZSCAN16 FEZF1 ZNF217 SIX4 ELF1 CEBPB MAX EP300 GABPA RAD21 | SPINK5 piR-48094 HSALNG0045691 lnc-SPINK5-1 C5orf46 | |
GH05J148089 | Enhancer | 0.7 | Ensembl ENCODE | 25.2 | +65.5 | 65518 | 2.8 | CEBPB EP300 RFX5 STAT3 TBP TCF7L2 MAFF ZKSCAN8 PKNOX1 | SPINK5 SPINK7 HSALNG0045692 HSALNG0045694 SPINK14 LOC102546294 | |
GH05J148032 | Enhancer | 0.6 | Ensembl ENCODE | 22 | +8.0 | 7998 | 1.7 | CEBPB EP300 NFE2 RFX1 | SPINK5 HSALNG0045691 HSALNG0045692 SPINK14 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0004867 | serine-type endopeptidase inhibitor activity | IBA,IDA | 10419450 |
GO:0005515 | protein binding | IEA | -- |
GO:0030414 | peptidase inhibitor activity | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005576 | extracellular region | TAS | -- |
GO:0005737 | cytoplasm | IDA | 12915442 |
GO:0005783 | endoplasmic reticulum | IDA | 15680911 |
GO:0005789 | endoplasmic reticulum membrane | IDA | 15680911 |
GO:0005829 | cytosol | IDA | 15680911 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Keratinization |
.33
|
|
2 | Developmental Biology | ||
3 | Cell adhesion_Plasmin signaling |
Cell adhesion_Plasmin signaling
-
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0002787 | negative regulation of antibacterial peptide production | IEA | -- |
GO:0007275 | multicellular organism development | IBA | 21873635 |
GO:0007417 | central nervous system development | IBA | 21873635 |
GO:0009913 | epidermal cell differentiation | IDA | 12915442 |
GO:0010466 | negative regulation of peptidase activity | IEA | -- |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | SPINK5 30 |
|
||
Dog (Canis familiaris) |
Mammalia | SPINK5 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | SPINK5 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Spink5 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Spink5 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | SPINK5 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
Chicken (Gallus gallus) |
Aves | SPINK7 30 |
|
||
SPINK5 31 |
|
OneToOne | |||
Lizard (Anolis carolinensis) |
Reptilia | SPINK5 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 05 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
529164 | Uncertain Significance: Netherton syndrome | 148,100,549(+) |
TG/CA NM_001127698.2(SPINK5):c.1188_1189inv (p.Gly397Ser) |
MISSENSE | |
834333 | Uncertain Significance: Netherton syndrome | 148,123,888(+) |
G/C NM_006846.4(SPINK5):c.2594G>C (p.Arg865Thr) |
MISSENSE | |
834965 | Uncertain Significance: Netherton syndrome | 148,120,038(+) |
G/C NM_006846.4(SPINK5):c.2343G>C (p.Met781Ile) |
MISSENSE | |
835174 | Pathogenic: Netherton syndrome | 148,099,235(+) |
C/T NM_006846.4(SPINK5):c.1012C>T (p.Gln338Ter) |
NONSENSE | |
835193 | Uncertain Significance: Netherton syndrome | 148,107,159(+) |
T/A NM_006846.4(SPINK5):c.1602T>A (p.Ser534Arg) |
MISSENSE |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv3188n106 | CNV | deletion | 24896259 |
esv1953564 | CNV | deletion | 18987734 |
esv2569672 | CNV | deletion | 19546169 |
esv2730894 | CNV | deletion | 23290073 |
esv3357612 | CNV | insertion | 20981092 |
esv3555 | CNV | loss | 18987735 |
esv3566789 | CNV | deletion | 23714750 |
esv3570489 | CNV | loss | 25503493 |
esv3607101 | CNV | loss | 21293372 |
esv3607102 | CNV | loss | 21293372 |
esv8009 | CNV | loss | 19470904 |
nsv1033838 | CNV | loss | 25217958 |
nsv1074337 | CNV | deletion | 25765185 |
nsv327946 | CNV | deletion | 16902084 |
nsv328025 | CNV | deletion | 16902084 |
nsv477853 | CNV | novel sequence insertion | 20440878 |
nsv830515 | CNV | gain+loss | 17160897 |
nsv955839 | CNV | deletion | 24416366 |
Disorder | Aliases | PubMed IDs |
---|---|---|
netherton syndrome |
|
|
ichthyosis linearis circumflexa |
|
|
ichthyosis |
|
|
ige responsiveness, atopic |
|
|
autosomal recessive congenital ichthyosis |
|
|