SPINT2 Gene Summary [Human]
This gene encodes a transmembrane protein with two extracellular Kunitz domains that inhibits a variety of serine proteases. The protein inhibits HGF activator which prevents the formation of active hepatocyte growth factor. This gene is a putative tumor suppressor, and mutations in this gene result in congenital sodium diarrhea. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]
Details
| Type | Protein Coding |
| Official Symbol | SPINT2 |
| Official Name | serine peptidase inhibitor, Kunitz type 2 [Source:HGNC Symbol;Acc:HGNC:11247] |
| Ensembl ID | ENSG00000167642 |
| Bio databases IDs | |
| Aliases | serine peptidase inhibitor, Kunitz type 2, placental bikunin, hepatocyte growth factor activator inhibitor-2, HGF activator inhibitor 2, Kunitz domain containing protein overexpressed in pancreatic cancer |
| Synonyms | AL024025, DIAR3, HAI-2, Kop, LOC100130414, PB, serine peptidase inhibitor, Kunitz type 2, serine peptidase inhibitor, Kunitz type, 2, Serine protease inhibitor 2, serine protease inhibitor, Kunitz type 2 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human SPINT2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- endopeptidase inhibitor
- Kunitz/Bovine pancreatic trypsin inhibitor (BPTI) domain
- serine protease inhibitor activity
- Kunitz protease inhibitor domain
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- tumorigenesis
- epithelial neoplasia
- cancer
- epithelial cancer
- skin neoplasia
- syndromic congenital secretory sodium diarrhea type 3
- prostate cancer
- endometriosis
- prostatic carcinoma
- clear-cell ovarian carcinoma
role in cell
- apoptosis
- growth
- production in
- infiltration by
- phosphorylation in
- molecular cleavage in
- proliferation
- shedding in
- organization
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Extracellular Space
- intracellular membrane-bounded organelle
- Cytoplasm
- cellular membrane
- Golgi Apparatus
- apical cell surfaces
- basement membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human SPINT2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- epithelial cell morphogenesis involved in placental branching
- neural tube closure
- cellular response to BMP stimulus
- negative regulation of cell-cell adhesion
- establishment or maintenance of cell polarity
- negative regulation of cell motility
- negative regulation of neural precursor cell proliferation
- basement membrane organization
Cellular Component
Where in the cell the gene product is active
- cytoplasm
- membrane
- extracellular region
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- serine-type endopeptidase inhibitor activity
- endopeptidase inhibitor activity