SPINK4 (serine peptidase inhibitor Kazal type 4)

Gene
Gene miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
27290
Gene name Gene Name - the full gene name approved by the HGNC.
Serine peptidase inhibitor Kazal type 4
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SPINK4
Synonyms (NCBI Gene) Gene synonyms aliases
HEL136, PEC-60, PEC60
Chromosome Chromosome number
9
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
9p13.3
miRNA miRNA information provided by mirtarbase database.
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
Gene miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Show/Hide all(1)
Transcription factor Regulation Reference
SPDEF Activation 19786015
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Show/Hide all(5)
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
613929 16646 ENSG00000122711
Protein
Gene miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Show/Hide Unknown Diseases (1)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Neuroblastoma Neuroblastoma N/A N/A GWAS
Show/Hide Text Mining Associations (14)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Mucinous Associate 36690709
Barrett Esophagus Associate 30323168
Celiac Disease Associate 17333166, 28934294
Colitis Ulcerative Associate 22826509
Colorectal Neoplasms Inhibit 31888570
Colorectal Neoplasms Associate 38097680
Gastrointestinal Diseases Associate 21963510
Inflammation Associate 22826509
Lymphatic Metastasis Stimulate 34202399
Metaplasia Associate 30323168