SPINK4 (serine peptidase inhibitor Kazal type 4)

Gene Gene information from NCBI Gene database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Entrez ID 27290
Gene name Serine peptidase inhibitor Kazal type 4
Gene symbol SPINK4
Synonyms (NCBI Gene)
HEL136PEC-60PEC60
Chromosome 9
Chromosome location 9p13.3
miRNA miRNA information provided by mirtarbase database.
4
Gene miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Show/Hide all (4)
miRTarBase ID miRNA Experiments Reference
MIRT2115081 hsa-miR-1287 CLIP-seq
MIRT2337758 hsa-miR-135a CLIP-seq
MIRT2337759 hsa-miR-135b CLIP-seq
MIRT2337760 hsa-miR-3117-5p CLIP-seq
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Gene miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
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Transcription factor Regulation Reference
SPDEF Activation 19786015
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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Gene miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
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GO ID Ontology Definition Evidence Reference
GO:0004867 Function Serine-type endopeptidase inhibitor activity IEA
GO:0005515 Function Protein binding IPI 32296183
GO:0005576 Component Extracellular region IEA
GO:0009410 Process Response to xenobiotic stimulus IEA
GO:0030414 Function Peptidase inhibitor activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
613929 16646 ENSG00000122711
Protein Protein information from UniProt database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O60575
Protein name Serine protease inhibitor Kazal-type 4 (Peptide PEC-60 homolog)
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00050 Kazal_1 37 → 86 Kazal-type serine protease inhibitor domain Domain
Sequence 
MAVRQWVIALALAALLVVDREVPVAAGKLPFSRMPICEHMVESPTCSQMSNLVCGTDGLT
YTNECQLCLARIKTKQDIQIMKDGKC
Sequence length 86
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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Gene miRNA Transcription factors Gene ontology Other IDs Protein 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 (7)
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
BIPOLAR DISORDER — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DIABETIC NEPHROPATHY — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MENTAL OR BEHAVIOURAL DISORDER — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (25)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acth-Independent Macronodular Adrenal Hyperplasia Cushing`s Syndrome BEFREE 14767469
★★★★★
★☆☆☆☆
Found in Text Mining only
Barrett Esophagus Barrett esophagus BEFREE 30323168
★★★★★
★☆☆☆☆
Found in Text Mining only
Barrett Esophagus Barrett esophagus Pubtator 30323168 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Brooke-Spiegler syndrome Brooke-Spiegler Syndrome BEFREE 29540315
★★★★★
★☆☆☆☆
Found in Text Mining only
Celiac Disease Celiac disease BEFREE 17333166
★★★★★
★☆☆☆☆
Found in Text Mining only
Celiac Disease Celiac disease Pubtator 17333166, 28934294 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Colitis Ulcerative Ulcerative colitis Pubtator 22826509 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Colon Carcinoma Colon Carcinoma BEFREE 30976466
★★★★★
★☆☆☆☆
Found in Text Mining only
Colorectal Carcinoma Colorectal Cancer BEFREE 30976466
★★★★★
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 31888570 Inhibit
★★★★★
★☆☆☆☆
Found in Text Mining only