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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables serine-type endopeptidase inhibitor activity	IDA IDA: Inferred from direct assay	19185281	GOA

Biological Process GO Annotation	Evidence	Reference	Source
acts upstream of or within negative regulation of cell motility	IDA IDA: Inferred from direct assay	19592578	GOA
acts upstream of or within negative regulation of cell-cell adhesion	IDA IDA: Inferred from direct assay	19592578	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in cytoplasm	IDA IDA: Inferred from direct assay	11606055	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SPINT2 Protein Structure

Kunitz_BPTI

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)	O43291-1 (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

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS13686	SPINT2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

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

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