SPINK9 (serine peptidase inhibitor Kazal type 9)

Gene Gene information from NCBI Gene database.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 643394
Gene name Serine peptidase inhibitor Kazal type 9
Gene symbol SPINK9
Synonyms (NCBI Gene)
LEKTI2
Chromosome 5
Chromosome location 5q32
Summary The protein encoded by this gene is a Kazal-type serine protease inhibitor that appears to specifically target kallikrein-related peptidase 5 (KLK5) in the palmo-plantar epidermis. KLK5 is an important initiator of skin desquamation, so the encoded protea
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
6
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (6)
GO ID Ontology Definition Evidence Reference
GO:0004867 Function Serine-type endopeptidase inhibitor activity IDA 19194479
GO:0004867 Function Serine-type endopeptidase inhibitor activity IEA
GO:0005515 Function Protein binding IPI 19194479, 32296183
GO:0005576 Component Extracellular region IEA
GO:0005576 Component Extracellular region TAS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
613511 32951 ENSG00000204909
Protein Protein information from UniProt database.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q5DT21
Protein name Serine protease inhibitor Kazal-type 9 (Lymphoepithelial Kazal-type-related inhibitor 2)
Protein function Serine protease inhibitor which specifically inhibits KLK5. May contribute to the regulation of the desquamation process in skin by inhibiting KLK5.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00050 Kazal_1 32 → 86 Kazal-type serine protease inhibitor domain Domain
Tissue specificity TISSUE SPECIFICITY: Skin. Highly expressed at sites of hyperkeratosis. Also detected in thymus, tonsils, testis, pancreas, liver, placenta and brain. Expressed at stratum granulosum and stratum corneum at palmar and plantar sites (at protein level). {ECO:
Sequence
Sequence length 86
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    Formation of the cornified envelope
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Unknown Diseases (2)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
MALIGNANT EPITHELIAL TUMOR OF OVARY — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
OVARIAN CARCINOMA — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (7)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Diabetes Mellitus Type 1 Stimulate 36175575
★★★★★
★☆☆☆☆
Found in Text Mining only
Foot Ulcer Associate 19190773
★★★★★
★☆☆☆☆
Found in Text Mining only
Hyperlipidemias Stimulate 36175575
★★★★★
★☆☆☆☆
Found in Text Mining only
Hypothyroidism Stimulate 36175575
★★★★★
★☆☆☆☆
Found in Text Mining only
Ketosis Stimulate 36175575
★★★★★
★☆☆☆☆
Found in Text Mining only
Nervous System Diseases Stimulate 36175575
★★★★★
★☆☆☆☆
Found in Text Mining only
Polycystic Ovary Syndrome Stimulate 36175575
★★★★★
★☆☆☆☆
Found in Text Mining only