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Spint2 Gene Detail
Summary
  • Symbol
    Spint2
  • Name
    serine protease inhibitor, Kunitz type 2
  • Synonyms
    HAI-2
  • Feature Type
    protein coding gene
  • IDs
    MGI:1338031
    NCBI Gene: 20733
Location & Maps
more
  • Sequence Map
    Chr7:29256331-29281977 bp, - strand
  • From Ensembl annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      25647 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    SPINT2, serine peptidase inhibitor, Kunitz type, 2
  • Vertebrate Orthologs
    8
  • Human Ortholog
    SPINT2, serine peptidase inhibitor, Kunitz type, 2
    Orthology source: HomoloGene
  • Synonyms
    DIAR3, HAI2, HAI-2, Kop, PB
  • Links
    NCBI Gene ID: 10653
    neXtProt AC: NX_O43291

  • Chr Location
    19q13.1; chr19:38264458-38292614 (+)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with human SPINT2 associations

Human Disease Mouse Models
       Diarrhea 3, Secretory Sodium, Congenital, with or without Other Congenital Anomalies; DIAR3   OMIM: 270420
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    8 phenotypes from 1 allele in 2 genetic backgrounds
    13 phenotypes from multigenic genotypes
    11 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
tumorigenesis
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    33
  • Gene trapped
    31
  • Targeted
    2
Homozygous embryos carrying an insertional mutation fail to progress to the headfold stage and die at gastrulation displaying a severe clefting of the embryonic ectoderm at E7.5.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000074227 Ensembl Gene Model | MGI Sequence Detail 25647 C57BL/6J ±  kb
transcript ENSMUST00000098604 Ensembl | MGI Sequence Detail 1459 Not Applicable  
polypeptide ENSMUSP00000096204 Ensembl | MGI Sequence Detail 252 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    125 from dbSNP Build 137
Protein
Information
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  • UniProt
    2 Sequences
  • Protein Ontology
    PR:000015543 Kunitz-type protease inhibitor 2
  • InterPro Domains
    IPR002223 Pancreatic trypsin inhibitor Kunitz domain
    IPR020901 Proteinase inhibitor I2, Kunitz, conserved site
Molecular
Reagents
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  • All nucleic 425
    Genomic 1
    cDNA 422
    Primer pair 1
    Other 1

    Microarray probesets 3
Other
Accession IDs
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MGI:2142094, MGI:2142304
References
more
  • Summaries
    All 44
    Developmental Gene Expression 10
    Gene Ontology 5
    Phenotypes 11
  • Earliest
    J:53204 Itoh H, et al., Hepatocyte growth factor activator inhibitor type 2 lacking the first Kunitz-type serine proteinase inhibitor domain is a predominant product in mouse but not in human. Biochem Biophys Res Commun. 1999 Feb 24;255(3):740-8
  • Latest
    J:188121 Szabo R, et al., Reduced Prostasin (CAP1/PRSS8) Activity Eliminates HAI-1 and HAI-2 Deficiency-Associated Developmental Defects by Preventing Matriptase Activation. PLoS Genet. 2012 Aug;8(8):e1002937

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
02/02/2016
MGI 6.02
The Jackson Laboratory