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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
  • Alliance
    gene page
  • Transcription Start Sites
    12 TSS
Location &
Maps
more
  • Sequence Map
    Chr7:28955748-28981337 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 7, 16.94 cM
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    723 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1338031
 protein coding gene Chr7:28955748-28981484 (-)
129S1/SvImJ MGP_129S1SvImJ_G0031980
 protein coding gene Chr7:28166835-28197736 (-)
A/J MGP_AJ_G0031958
 protein coding gene Chr7:27426898-27452796 (-)
AKR/J MGP_AKRJ_G0031891
 protein coding gene Chr7:28149704-28175635 (-)
BALB/cJ MGP_BALBcJ_G0031965
 protein coding gene Chr7:27626502-27654384 (-)
C3H/HeJ MGP_C3HHeJ_G0031684
 protein coding gene Chr7:28543800-28571625 (-)
C57BL/6NJ MGP_C57BL6NJ_G0032430
 protein coding gene Chr7:29065857-29095493 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0029480
 protein coding gene Chr7:28481245-28506538 (-)
CAST/EiJ MGP_CASTEiJ_G0031018
 protein coding gene Chr7:21805697-21833802 (-)
CBA/J MGP_CBAJ_G0031650
 protein coding gene Chr7:30429420-30466632 (-)
DBA/2J MGP_DBA2J_G0031802
 protein coding gene Chr7:27170981-27196592 (-)
FVB/NJ MGP_FVBNJ_G0031759
 protein coding gene Chr7:27280952-27307209 (-)
LP/J MGP_LPJ_G0031882
 protein coding gene Chr7:28471324-28499166 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0031794
 protein coding gene Chr7:29811366-29839700 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0032459
 protein coding gene Chr7:27632398-27657865 (-)
PWK/PhJ MGP_PWKPhJ_G0030744
 protein coding gene Chr7:22226163-22252241 (-)
SPRET/EiJ MGP_SPRETEiJ_G0030577
 protein coding gene Chr7:18642093-18665282 (-)
WSB/EiJ MGP_WSBEiJ_G0031128
 protein coding gene Chr7:28001581-28034993 (-)



Homology
more
  • Human Ortholog
    SPINT2, serine peptidase inhibitor, Kunitz type 2
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    SPINT2, serine peptidase inhibitor, Kunitz type 2
  • Synonyms
    DIAR3, HAI-2, HAI2, Kop, PB
  • Links
    NCBI Gene ID: 10653
    neXtProt AC: NX_O43291
    UniProt: O43291

  • Chr Location
    19q13.2; chr19:38244035-38292615 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with human SPINT2 associations

Human Disease Mouse Models
      
IDs
 View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    9 phenotypes from 2 alleles in 3 genetic backgrounds
    28 phenotypes from multigenic genotypes
    17 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
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
neoplasm
vision/eye

Click cells to view annotations.
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
less
  • All GO Annotations
    16
  • GO References
    7
Molecular Function

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

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
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
    1128
  • Tissues
    155
  • cDNA Data
    423
  • Literature Summary
    14
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000074227 Ensembl Gene Model | MGI Sequence Detail 25590 C57BL/6J ±  kb
    transcript ENSMUST00000098604 Ensembl | MGI Sequence Detail 1384 Not Applicable  
    polypeptide ENSMUSP00000096204 Ensembl | MGI Sequence Detail 252 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      2 Sequences
    • Protein Ontology
      PR:000015543 Kunitz-type protease inhibitor 2
      (term hierarchy)
    • InterPro Domains
      IPR002223 Pancreatic trypsin inhibitor Kunitz domain
      IPR036880 Pancreatic trypsin inhibitor Kunitz domain superfamily
      IPR020901 Proteinase inhibitor I2, Kunitz, conserved site
    • GlyGen
      Q9WU03 2 sites
    Molecular
    Reagents
    less
    • All nucleic 428
      Genomic 1
      cDNA 423
      Primer pair 1
      Other 3

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGI:2142094, MGI:2142304
    References
    more
    • Summaries
      All 57
      Developmental Gene Expression 14
      Diseases 1
      Gene Ontology 7
      Phenotypes 17
    • 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:340720 Szabo R, et al., Early-onset tufting enteropathy in HAI-2-deficient mice is independent of matriptase-mediated cleavage of EpCAM. Development. 2023 Sep 1;150(17)
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    12/10/2024
    MGI 6.24     		The Jackson Laboratory