Spint2
Gene Detail

Symbol Name ID

Spint2 serine protease inhibitor, Kunitz type 2 MGI:1338031

Synonyms

HAI-2

Feature Type

protein coding gene

Genetic Map

Chromosome 7

16.94 cM
Detailed Genetic Map ± 1 cM


Mapping data(3)

Sequence Map

Chr7:29256331-29281977 bp, - strand From Ensembl annotation of GRCm38   25647 bp   ±  kb flank VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser

Vertebrate homology

HomoloGene:7955  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 rhesus macaque; 1 cattle; 1 dog

Gene Tree: Spint2

Human homologs

Human Homolog		SPINT2, serine peptidase inhibitor, Kunitz type, 2
NCBI Gene ID		10653
neXtProt AC		NX_O43291
Human Synonyms		DIAR3, HAI2, HAI-2, Kop, PB
Human Chr (Location)		19q13.1; chr19:38755098-38783254 (+)  GRCh37.p10
Disease Associations		(1) Diseases Associated with Human SPINT2

Alleles and phenotypes

All alleles(33) : Targeted(2) Gene trapped(31)
 

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

All GO classifications: (7 annotations)

Process	negative regulation of peptidase activity
Component	cytoplasm, integral to membrane, ...
Function	peptidase inhibitor activity, serine-type endopeptidase inhibitor activity

External Resources: FuncBase

Expression

Literature Summary: (10 records)
Data Summary: Results (393)    Tissues (135)    Images (34)
Theiler Stages: 11, 13, 17, 18, 20, 22, 23, 28

Assay Type	Results
RNA in situ	348
RT-PCR	45

cDNA source data(422)
External Resources: Allen Institute   GENSAT   GEO   ArrayExpress

Molecular reagents

All nucleic(425) Genomic(1) cDNA(422) Primer pair(1) Other(1)
Microarray probesets(3)

Other database links

Ensembl Gene Model	ENSMUSG00000074227 (Evidence)
Entrez Gene	20733 (Evidence)
UniGene	295230
DFCI	TC1571927, TC1586959, TC1591954
DoTS	DT.101274220, DT.102541289, DT.111010354, DT.537668, DT.94382077, DT.97411928
NIA Mouse Gene Index	U028351
Consensus CDS Project	CCDS39869.1, CCDS39870.1
International Mouse Knockout Project Status	Spint2

Sequences

Length	Strain/Species
genomic	ENSMUSG00000074227	Ensembl Gene Model | MGI Sequence Detail	25647	C57BL/6J
transcript	ENSMUST00000098604	Ensembl | MGI Sequence Detail	1459	Not Applicable
polypeptide	ENSMUSP00000096204	Ensembl | MGI Sequence Detail	252	Not Applicable

All sequences(36) RefSeq(4) UniProt(2)

Polymorphisms

SNPs(115 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR020901	Proteinase inhibitor I2, Kunitz, conserved site
InterPro	IPR002223	Proteinase inhibitor I2, Kunitz metazoa
Protein Ontology	PR:000015543	kunitz-type protease inhibitor 2

References

(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
All references(47)

Other accession IDs

MGI:2142094, MGI:2142304