SPINT2 gene

serine peptidase inhibitor, Kunitz type 2

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From UniProt:

Inhibitor of HGF activator. Also inhibits plasmin, plasma and tissue kallikrein, and factor XIa.

From NCBI Gene:

  • Congenital secretory diarrhea, sodium type

From UniProt:

Diarrhea 3, secretory sodium, congenital, with or without other congenital anomalies (DIAR3): 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. [MIM:270420]

Cytogenetic Location: 19q13.1, which is the long (q) arm of chromosome 19 at position 13.1

Molecular Location: base pairs 38,264,458 to 38,292,614 on chromosome 19 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 19q13.1, which is the long (q) arm of chromosome 19 at position 13.1
  • DIAR3
  • HAI-2
  • HAI2
  • Kop
  • PB