1. Gene
  2. SPINT2 - serine peptidase inhibitor, Kunitz type 2 Gene

SPINT2 - serine peptidase inhibitor, Kunitz type 2 Gene

Homo sapiens

Also known as PB; Kop; HAI2; DIAR3; HAI-2

Gene ID: 10653 | Gene type: protein coding

About SPINT2

Cytogenetic location: 19q13.2 Genomic coordinates (GRCh38): 19:38,264,573-38,292,615 (from NCBI)

This gene has 11 transcripts (splice variants), 199 orthologues, 13 paralogues and is associated with 3 phenotypes. Broad expression in colon (RPKM 172.2), thyroid (RPKM 135.2) and 22 other tissues.

Summary

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]

SPINT2 Products(2)

mRNA Protein Name
NM_001166103.2 NP_001159575.1 kunitz-type protease inhibitor 2 isoform b precursor
NM_021102.4 NP_066925.1 kunitz-type protease inhibitor 2 isoform a precursor

SPINT2 Protein Structure

Kunitz_BPTI

Kunitz_BPTI: Kunitz/Bovine pancreatic trypsin inhibitor domain (37 - 88)

Kunitz_BPTI

Kunitz_BPTI: Kunitz/Bovine pancreatic trypsin inhibitor domain (133 - 183)

  • 0
  • 100
  • 200
  • 252 a.a.
Protein Preferred Names Protein Names

kunitz-type protease inhibitor 2

HGF activator inhibitor 2

Recombinant SPINT2 Proteins

Cat. No. Product Name Accession Purity
HY-P70202 HAI-2 Protein, Human (HEK293, His) O43291 (A28-K197) ≥95%

Related Diseases

Diseases Alias
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies

Diarrhea 3, Secretory Sodium, Congenital, Syndromic

Congenital Secretory Sodium Diarrhea 3

Congenital Sodium Diarrhea

DIAR3

Csd

Sodium Diarrhea, Congenital

Congenital Secretory Sodium Diarrhea 3 Syndromic

Congenital Secretory Sodium Diarrhea 3 With Or Without Other Congenital Anomalies

Congenital Secretory Sodium Diarrhoea 3

Congenital Secretory Sodium Diarrhoea 3 Syndromic

Congenital Secretory Sodium Diarrhoea 3 With Or Without Other Congenital Anomalies

Na-H Exchange Deficiency

Non-Syndromic Congenital Sodium Diarrhea

Diarrhea, Type 3, Secretory Sodium, Congenital, Syndromic

Congenital Secretory Diarrhea, Sodium Type

Syndromic Congenital Sodium Diarrhea

Syndromic Congenital Tufting Enteropathy

Diarrhea

Diarrhoea

Diarrhea Of Presumed Infectious Origin

Secretory Diarrhea
Diarrhea 5, With Tufting Enteropathy, Congenital

Congenital Diarrhea 5 With Tufting Enteropathy

Congenital Tufting Enteropathy

DIAR5

Cte

Intestinal Epithelial Cell Dysplasia

Tufting Enteropathy

Ied

Intestinal Epithelial Dysplasia

Enteropathy, Congenital Tufting

Congenital Diarrhoea 5 With Tufting Enteropathy

Congenital Familial Intractable Diarrhea With Epithelial Or Epithelium Abnormalities

Congenital Familial Intractable Diarrhoea With Epithelial Or Epithelium Abnormalities

Congenital Enteropathy

Congenital Familial Intractable Diarrhea With Enterocytes Assembly Abnormalities

Non-Syndromic Congenital Tufting Enteropathy

Diarrhea, Type 5, With Tufting Enteropathy, Congenital

Intestinal Intraepithelial Neoplasia

Cone-Rod Dystrophy 19

CORD19

Dystrophy, Cone-Rod, Type 19

Diarrhea 8, Secretory Sodium, Congenital

Congenital Secretory Sodium Diarrhea 8

DIAR8

Diarrhea, Congenital Sodium

Csd

Congenital Secretory Diarrhea, Sodium Type

Choanal Atresia, Posterior

Choanal Atresia

Atresia Of Nares

Posterior Choanal Atresia

PCA

Imperforate Nares

Choanal Fusion

Congenital Stenosis Of Nares

Congenital Stenosis Of Choanae

Nasal Atresia Nos

Pancreatic Cancer

Pancreatic Carcinoma

Carcinoma Of Pancreas

Familial Pancreatic Carcinoma

Pancreatic Neoplasm

Pancreatic Carcinoma, Familial

Malignant Neoplasm Of Pancreas

Pancreatic Acinar Carcinoma

Pancreatic Tumor

Familial Pancreatic Cancer

Neoplasm Of The Pancreas

Cancer Of The Pancreas

Pancreatic Carcinoma, Somatic

Pancreatic Cancer, Somatic

Ca Body Of Pancreas

Ca Head Of Pancreas

Ca Tail Of Pancreas

Malignant Neoplasm Of Body Of Pancreas

Malignant Neoplasm Of Head Of Pancreas

Malignant Neoplasm Of Tail Of Pancreas

Pancreas Neoplasm

Exocrine Cancer

Exocrine Pancreas Carcinoma

Hereditary Pancreatic Cancer

Hereditary Pancreatic Carcinoma

PNCA

Pancreatic Cancer, Susceptibility To

Carcinoma Of Head Of Pancreas

Pancreatic Neoplasms

Pancreatic Tumors

Cancer, Pancreatic

Cancer Of Pancreas

Mixed Islet Cell With Exocrine Carcinoma Of Unspecified Site

Congenital Diarrhea
Diarrhea 4, Malabsorptive, Congenital

Enteric Anendocrinosis

Congenital Malabsorptive Diarrhea 4

DIAR4

Congenital Malabsorptive Diarrhea Due To Paucity Of Enteroendocrine Cells

Congenital Malabsorptive Diarrhoea 4

Congenital Malabsorptive Diarrhoea Due To Paucity Of Enteroendocrine Cells

Diarrhea, Type 4, Malabsorptive, Congenital

Alpha-1-Antitrypsin Deficiency

Alpha 1-Antitrypsin Deficiency

Alpha-1 Antitrypsin Deficiency

Aat Deficiency

Aatd

A1ATD

Emphysema Due To Aat Deficiency

A1at Deficiency

Emphysema-Cirrhosis, Due To Aat Deficiency

Hemorrhagic Diathesis Due To Antithrombin Pittsburgh

Alpha-1 Antiprotease Deficiency

Alpha 1 Antitrypsin Deficiency

Aat

Alpha-1 Protease Inhibitor Deficiency

Alpha-1 Related Emphysema

Genetic Emphysema

Hereditary Pulmonary Emphysema

Inherited Emphysema

Alpha-1-Proteinase Inhibitor Deficiency

Alpha1-Antitrypsin Deficiency

Alpha-1-Antitrypsin Deficiency, Autosomal Recessive

Emphysema, Hereditary Pulmonary

Aatd - [Alpha-1-Antitrypsin] Deficiency

Lactase Deficiency, Congenital

Congenital Lactase Deficiency

Disaccharide Intolerance Ii

Congenital Alactasia

Congenital Alactasia Syndrome

Congenital Lactose Intolerance

Congenital Lactose Malabsorption

Hereditary Alactasia

Alactasia, Congenital

Cld

COLACD

Disaccharide Intolerance Type 2

Cld - [Congenital Lactase Deficiency]

Disaccharide Intolerance 2

Lactose Intolerance Of Newborn

Hereditary Lactase Deficiency

Anus, Imperforate

Imperforate Anus

Anorectal Malformation

Anal Atresia

Anorectal Malformations

Congenital Atresia Of Anus

Congenital Or Infantile Occlusion Of Anus

Anal Stenosis

Arm

Punctate Epithelial Keratoconjunctivitis

Punctate Keratitis

Thygeson Superficial Punctate Keratitis

Thygeson'S Superficial Punctate Keratitis

Thygeson Superficial Punctate Keratopathy

Punctate Epithelial Keratitis

Microvillus Inclusion Disease

Congenital Microvillous Atrophy

Intractable Diarrhea Of Infancy

Congenital Familial Protracted Diarrhea With Enterocyte Brush-Border Abnormalities

Davidson Disease

Microvillous Inclusion Disease

Congenital Microvillus Atrophy

Mvid

Diarrhea 2 With Microvillus Atrophy

Mvd

Congenital Familial Protracted Diarrhea

Davidson'S Disease

Familial Enteropathy, Microvillus

Microvillus Atrophy, Congenital

Congenital Enteropathy

Familial Protracted Enteropathy

Microvillous Atrophy

Microvillus Atrophy With Diarrhea 2

Idi

Renal Cell Carcinoma, Nonpapillary

Renal Cell Carcinoma

RCC

Nonpapillary Renal Cell Carcinoma

Clear Cell Renal Cell Carcinoma

Hypernephroma

Adenocarcinoma Of Kidney

Renal Carcinoma, Chromophobe, Somatic

Clear Cell Carcinoma Of Kidney

Clear-Cell Metastatic Renal Cell Carcinoma

Clear Cell Renal Carcinoma

Renal Cell Carcinoma, Somatic

Conventional Renal Cell Carcinoma

Conventional Renal Cell Carcinoma

Renal Clear Cell Carcinoma

Ccrcc

Hereditary Clear Cell Renal Cell Carcinoma

Carcinoma, Renal Cell

Renal Cell Carcinoma, Clear Cell, Somatic

Renal Cell Carcinoma, Clear Cell

Clear Cell Kidney Carcinoma

Clear Cell Rcc

Cystic-Multilocular Variant

Clear Cell Renal Cell Adenocarcinoma

Hereditary Clear Cell Renal Cell Adenocarcinoma

Common Renal Cell Carcinoma

Crcc

Renal Cell Carcinoma Non-Papillary

Carcinoma Renal Cell

Renal Cell Cancer

Carcinoma, Renal Cell, Nonpapillary

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Bos taurus SPINT2 VGNC VGNC:49973
Felis catus SPINT2 VGNC VGNC:103750
Macaca mulatta SPINT2 VGNC VGNC:103869
Canis familiaris SPINT2 VGNC VGNC:53991
Mus musculus SPINT2 MGD MGI:1338031
Rattus norvegicus SPINT2 RGD RGD:735123
Others SPINT2 NCBI