Gene content | ||||
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SPINT2 ( by HUGO) | ||||
Serine Peptidase Inhibitor, Kunitz Type, | ||||
Tumor suppressor gene | ||||
Serine Peptidase Inhibitor Kunitz Type 2 Placental Bikunin HAI2 Serine Protease Inhibitor Kunitz Type 2 Hepatocyte Growth Factor Activator Inhibitor Type 2 HAI-2 DIAR3 Kop PB Kunitz-Type Protease Inhibitor 2 KOP | ||||
NCBI: 19q13.1 Ensembl: 19q13.2 | ||||
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Protein Domain/Family | ||||
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Source | ID | Domain | Name | Type |
InterPro | IPR002223 | Prot_inh_Kunz-m | Proteinase inhibitor I2, Kunitz metazoa | Domain |
Gene Ontology | ||||
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Type | Term | Evidence | Source | Pub |
Biological Process | cellular component movement | TAS | GOA | 9434156 |
negative regulation of endopeptidase activity | TAS | GOA | 9115294 | |
Cellular Component | cytoplasm | IDA | GOA | 11606055 |
extracellular region | TAS | GOA | 9346890 | |
Molecular Function | endopeptidase inhibitor activity | TAS | GOA | 9115294 |
Disorder & Mutation | ||||
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Source | Disease | |||
SWISS-PROT | Diarrhea 3, secretory sodium, congenital (DIAR3) [MIM:270420]: A disease characterized by life-threatening secretory diarrhea, severe metabolic acidosis and hyponatremia. Hyponatremia is secondary to extraordinarily high fecal sodium loss, with low or normal excretion of urinary sodium, in the absence of infectious, autoimmune and endocrine causes. Note=The disease is caused by mutations affecting the gene represented in this entry |
SPINT2 cross reference | ||||||||
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