Serine Protease Inhibitor, Kunitz-Type, 2

Alternative Names

  • SPINT2
  • Hepatocyte Growth Factor Activator Inhibitor 2
  • HAI2
  • Bikunin, Placental
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OMIM Number

605124

NCBI Gene ID

10653

Uniprot ID

O43291

Length

28,043 bases

No. of Exons

7

No. of isoforms

2

Protein Name

Kunitz-type protease inhibitor 2

Molecular Mass

28228 Da

Amino Acid Count

252

Genomic Location

chr19:38,264,572-38,292,614

Gene Map Locus
19q13.2

Description

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. [From RefSeq]

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_021102.4:c.443G>AUnited Arab EmiratesNC_000019.10:g.38290170G>ALikely PathogenicDiarrhea 3, Secretory Sodium, Congenital, with or without Other Congenital AnomaliesNG_013372.1:g.30713G>A; NM_021102.4:c.443G>A; NP_066925.1:p.Arg148His1353175955
NM_021102.4:c.502G>AAlgeriaNC_000019.10:g.38290229G>APathogenicLikely PathogenicDiarrhea 3, Secretory Sodium, Congenital, with or without Other Congenital AnomaliesNG_013372.1:g.30772G>A; NM_021102.4:c.502G>A; NP_066925.1:p.Gly168Ser606231284157607
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