SPINK5 Chromosome 5

Serine peptidase inhibitor Kazal type 5
125 variants 125 Health Risk

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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
RS1017737800 Health Risk Conflicting classifications of pathogenicity Netherton syndrome, Ichthyosis linearis circumflexa, Netherton syndrome
RS1025545434 Health Risk Conflicting classifications of pathogenicity Ichthyosis linearis circumflexa, Inborn genetic diseases, Ichthyosis linearis circumflexa
RS142227576 Health Risk Conflicting classifications of pathogenicity Netherton syndrome, Ichthyosis linearis circumflexa, SPINK5-related disorder
RS1561685366 Health Risk Conflicting classifications of pathogenicity Netherton syndrome, Ichthyosis linearis circumflexa, Netherton syndrome
RS180696183 Health Risk Conflicting classifications of pathogenicity Netherton syndrome, Ichthyosis linearis circumflexa, Netherton syndrome
RS181639116 Health Risk Conflicting classifications of pathogenicity Netherton syndrome, Susceptibility to nonsyndromic otitis media, Ichthyosis linearis circumflexa
RS185897034 Health Risk Conflicting classifications of pathogenicity Netherton syndrome, Ichthyosis linearis circumflexa, Netherton syndrome
RS190657753 Health Risk Conflicting classifications of pathogenicity Netherton syndrome, Ichthyosis linearis circumflexa, SPINK5-related disorder
RS199793551 Health Risk Conflicting classifications of pathogenicity Netherton syndrome, Ichthyosis linearis circumflexa, Netherton syndrome
RS200884153 Health Risk Conflicting classifications of pathogenicity Netherton syndrome, Ichthyosis linearis circumflexa, Netherton syndrome
RS375718943 Health Risk Conflicting classifications of pathogenicity Ichthyosis linearis circumflexa, Ichthyosis linearis circumflexa
RS375727921 Health Risk Conflicting classifications of pathogenicity Netherton syndrome, Netherton syndrome
RS541432320 Health Risk Conflicting classifications of pathogenicity Netherton syndrome, SPINK5-related disorder, Ichthyosis linearis circumflexa
RS554634510 Health Risk Conflicting classifications of pathogenicity Netherton syndrome, Ichthyosis linearis circumflexa, Netherton syndrome
RS571812048 Health Risk Conflicting classifications of pathogenicity Netherton syndrome, Ichthyosis linearis circumflexa, Netherton syndrome
RS573158320 Health Risk Conflicting classifications of pathogenicity Ichthyosis linearis circumflexa, Inborn genetic diseases, Ichthyosis linearis circumflexa
RS574656084 Health Risk Conflicting classifications of pathogenicity Netherton syndrome, Ichthyosis linearis circumflexa, Netherton syndrome
RS750608792 Health Risk Conflicting classifications of pathogenicity Netherton syndrome, Ichthyosis linearis circumflexa, Netherton syndrome
RS754019195 Health Risk Conflicting classifications of pathogenicity Ichthyosis linearis circumflexa, Ichthyosis linearis circumflexa
RS757299831 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS759079847 Health Risk Conflicting classifications of pathogenicity Netherton syndrome, SPINK5-related disorder, Ichthyosis linearis circumflexa
RS769519367 Health Risk Conflicting classifications of pathogenicity Ichthyosis linearis circumflexa, Netherton syndrome, Ichthyosis linearis circumflexa
RS773053071 Health Risk Conflicting classifications of pathogenicity Netherton syndrome, Ichthyosis linearis circumflexa, Netherton syndrome
RS775502935 Health Risk Conflicting classifications of pathogenicity Netherton syndrome, Inborn genetic diseases, Netherton syndrome
RS776194091 Health Risk Conflicting classifications of pathogenicity Ichthyosis linearis circumflexa, Inborn genetic diseases, Ichthyosis linearis circumflexa
RS778915520 Health Risk Conflicting classifications of pathogenicity Ichthyosis linearis circumflexa, Netherton syndrome, Ichthyosis linearis circumflexa
RS796478719 Health Risk Conflicting classifications of pathogenicity Netherton syndrome, Ichthyosis linearis circumflexa, Netherton syndrome
RS927214297 Health Risk Conflicting classifications of pathogenicity Ichthyosis linearis circumflexa, Ichthyosis linearis circumflexa
RS1057518067 Health Risk Likely pathogenic Ichthyosis linearis circumflexa, Ichthyosis linearis circumflexa
RS1219497521 Health Risk Likely pathogenic Ichthyosis linearis circumflexa, Ichthyosis linearis circumflexa
RS1221030255 Health Risk Likely pathogenic Ichthyosis linearis circumflexa, Ichthyosis linearis circumflexa
RS1561701382 Health Risk Likely pathogenic Ichthyosis linearis circumflexa, Ichthyosis linearis circumflexa
RS1752708600 Health Risk Likely pathogenic Netherton syndrome, Netherton syndrome
RS1753640069 Health Risk Likely pathogenic Netherton syndrome, Netherton syndrome
RS1754033945 Health Risk Likely pathogenic Ichthyosis linearis circumflexa, Ichthyosis linearis circumflexa
RS1754362343 Health Risk Likely pathogenic Ichthyosis linearis circumflexa, Ichthyosis linearis circumflexa
RS1754569068 Health Risk Likely pathogenic Ichthyosis linearis circumflexa, Ichthyosis linearis circumflexa
RS2531782406 Health Risk Likely pathogenic Ichthyosis linearis circumflexa, Ichthyosis linearis circumflexa
RS374012512 Health Risk Likely pathogenic Ichthyosis linearis circumflexa, Ovarian serous cystadenocarcinoma, Ichthyosis linearis circumflexa
RS567566682 Health Risk Likely pathogenic Ichthyosis linearis circumflexa, Ichthyosis linearis circumflexa
RS748978134 Health Risk Likely pathogenic Netherton syndrome, Ichthyosis linearis circumflexa, Netherton syndrome
RS761490126 Health Risk Likely pathogenic Netherton syndrome, Netherton syndrome
RS766316221 Health Risk Likely pathogenic Ichthyosis linearis circumflexa, Ichthyosis linearis circumflexa
RS769549131 Health Risk Likely pathogenic Ichthyosis linearis circumflexa, Ichthyosis linearis circumflexa
RS773865874 Health Risk Likely pathogenic Ichthyosis linearis circumflexa, Ichthyosis linearis circumflexa
RS1057518161 Health Risk Pathogenic Netherton syndrome, Netherton syndrome
RS1057520643 Health Risk Pathogenic Ichthyosis linearis circumflexa, Ichthyosis linearis circumflexa
RS1057524476 Health Risk Pathogenic —
RS1131691490 Health Risk Pathogenic Netherton syndrome, Ichthyosis linearis circumflexa, Netherton syndrome
RS1131691815 Health Risk Pathogenic —
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