SPINK5 Chromosome 5
Serine peptidase inhibitor Kazal type 5
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What This Gene Does
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]
Gene Info
Gene Group
Serine peptidase inhibitors, Kazal type
Locus Type
gene with protein product
Location
5q32
Ensembl
ENSG00000133710
Associated Conditions (8)
Netherton syndrome
Ichthyosis linearis circumflexa
Inborn genetic diseases
SPINK5-related disorder
Susceptibility to nonsyndromic otitis media
Ovarian serous cystadenocarcinoma
Increased circulating IgE concentration
Erythroderma
Key Variants
RS1017737800
Conflicting classifications of pathogenicity
Netherton syndrome, Ichthyosis linearis circumflexa, Netherton syndrome
Health Risk
RS1025545434
Conflicting classifications of pathogenicity
Ichthyosis linearis circumflexa, Inborn genetic diseases, Ichthyosis linearis circumflexa
Health Risk
RS142227576
Conflicting classifications of pathogenicity
Netherton syndrome, Ichthyosis linearis circumflexa, SPINK5-related disorder
Health Risk
RS1561685366
Conflicting classifications of pathogenicity
Netherton syndrome, Ichthyosis linearis circumflexa, Netherton syndrome
Health Risk
RS180696183
Conflicting classifications of pathogenicity
Netherton syndrome, Ichthyosis linearis circumflexa, Netherton syndrome
Health Risk
RS181639116
Conflicting classifications of pathogenicity
Netherton syndrome, Susceptibility to nonsyndromic otitis media, Ichthyosis linearis circumflexa
Health Risk
RS185897034
Conflicting classifications of pathogenicity
Netherton syndrome, Ichthyosis linearis circumflexa, Netherton syndrome
Health Risk
RS190657753
Conflicting classifications of pathogenicity
Netherton syndrome, Ichthyosis linearis circumflexa, SPINK5-related disorder
Health Risk
RS199793551
Conflicting classifications of pathogenicity
Netherton syndrome, Ichthyosis linearis circumflexa, Netherton syndrome
Health Risk
RS200884153
Conflicting classifications of pathogenicity
Netherton syndrome, Ichthyosis linearis circumflexa, Netherton syndrome
Health Risk
RS375718943
Conflicting classifications of pathogenicity
Ichthyosis linearis circumflexa, Ichthyosis linearis circumflexa
Health Risk
RS375727921
Conflicting classifications of pathogenicity
Netherton syndrome, Netherton syndrome
Health Risk
All Variants (125)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS759255682 | Health Risk | Pathogenic | Ichthyosis linearis circumflexa, Ichthyosis linearis circumflexa |
| RS761010013 | Health Risk | Pathogenic | Ichthyosis linearis circumflexa, Ichthyosis linearis circumflexa |
| RS763649250 | Health Risk | Pathogenic | Ichthyosis linearis circumflexa, Ichthyosis linearis circumflexa |
| RS765752936 | Health Risk | Pathogenic | Ichthyosis linearis circumflexa, Ichthyosis linearis circumflexa |
| RS766028970 | Health Risk | Pathogenic | — |
| RS767816225 | Health Risk | Pathogenic | Ichthyosis linearis circumflexa, Ichthyosis linearis circumflexa |
| RS770450773 | Health Risk | Pathogenic | Ichthyosis linearis circumflexa, Ichthyosis linearis circumflexa |
| RS773514258 | Health Risk | Pathogenic | Netherton syndrome, Ichthyosis linearis circumflexa, Netherton syndrome |
| RS775341740 | Health Risk | Pathogenic | Ichthyosis linearis circumflexa, Netherton syndrome, Ichthyosis linearis circumflexa |
| RS776976720 | Health Risk | Pathogenic | Ichthyosis linearis circumflexa, Ichthyosis linearis circumflexa |
| RS777436361 | Health Risk | Pathogenic | Netherton syndrome, Ichthyosis linearis circumflexa, Netherton syndrome |
| RS886039547 | Health Risk | Pathogenic | — |
| RS886041508 | Health Risk | Pathogenic | — |
| RS924297783 | Health Risk | Pathogenic | Netherton syndrome, Ichthyosis linearis circumflexa, Netherton syndrome |
| RS1212676320 | Health Risk | Pathogenic/Likely pathogenic | Ichthyosis linearis circumflexa, Netherton syndrome, Ichthyosis linearis circumflexa |
| RS1309309448 | Health Risk | Pathogenic/Likely pathogenic | Ichthyosis linearis circumflexa, Ichthyosis linearis circumflexa |
| RS1581074967 | Health Risk | Pathogenic/Likely pathogenic | Ichthyosis linearis circumflexa, Netherton syndrome, Ichthyosis linearis circumflexa |
| RS192473445 | Health Risk | Pathogenic/Likely pathogenic | Ichthyosis linearis circumflexa, Netherton syndrome, Ichthyosis linearis circumflexa |
| RS368134354 | Health Risk | Pathogenic/Likely pathogenic | Increased circulating IgE concentration, Erythroderma, Netherton syndrome |
| RS752179828 | Health Risk | Pathogenic/Likely pathogenic | Netherton syndrome, Ichthyosis linearis circumflexa, Netherton syndrome |
| RS752941297 | Health Risk | Pathogenic/Likely pathogenic | Increased circulating IgE concentration, Erythroderma, Netherton syndrome |
| RS766754092 | Health Risk | Pathogenic/Likely pathogenic | Ichthyosis linearis circumflexa, Netherton syndrome, Ichthyosis linearis circumflexa |
| RS766978225 | Health Risk | Pathogenic/Likely pathogenic | Netherton syndrome, Ichthyosis linearis circumflexa, Netherton syndrome |
| RS771730802 | Health Risk | Pathogenic/Likely pathogenic | Ichthyosis linearis circumflexa, Ichthyosis linearis circumflexa |
| RS776293648 | Health Risk | Pathogenic/Likely pathogenic | Ichthyosis linearis circumflexa, Netherton syndrome, Ichthyosis linearis circumflexa |