SPINT2 - serine peptidase inhibitor, Kunitz type 2 Gene

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

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 10653

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	Verweise	Source
enables serine-type endopeptidase inhibitor activity	IDA IDA: Inferred from direct assay	19185281	GOA

Biological Process GO Annotation	Evidence	Verweise	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	Verweise	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

Art. -Nr.	Produktname	Accession	Reinheit
HY-P70202	HAI-2 Protein, Human (HEK293, His)	O43291-1 (A28-K197)	≥ 95%, as determined by reducing SDS-PAGE.

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

Pre-clinical Phase

Bioactive Molecules (3)

Art. -Nr.	Produktname	Wirkung	Reinheit	Rare Diseases
HY-RS13686	SPINT2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS19530	Spint2 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS26025	Spint2 Rat Pre-designed siRNA Set A	Pre-designed Set	/	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