• Gene id: 10653

Gene Summary

• Gene Symbol: SPINT2   Gene   UCSC   Ensembl
• Aliases: DIAR3, HAI-2, HAI2, Kop, PB
• Gene name: serine peptidase inhibitor, Kunitz type 2
• Alternate names: kunitz-type protease inhibitor 2, hepatocyte growth factor activator inhibitor type 2, serine protease inhibitor, Kunitz type, 2, testicular tissue protein Li 183,
• Gene location: 19q13.2 (61453380: 61406641)     Exons: 10     NC_000010.11
• Gene summary(Entrez): 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
• OMIM: 605124

Protein Summary

• Protein general information: O43291  
  • Name: Kunitz type protease inhibitor 2 (Hepatocyte growth factor activator inhibitor type 2) (HAI 2) (Placental bikunin)
  • Length: 252  
  • Mass: 28228
  • Tissue specificity: Expressed in placenta, kidney, pancreas, prostate, testis, thymus, and trachea.
• Sequence:

  MAQLCGLRRSRAFLALLGSLLLSGVLAADRERSIHDFCLVSKVVGRCRASMPRWWYNVTDGSCQLFVYGGCDGNS
  NNYLTKEECLKKCATVTENATGDLATSRNAADSSVPSAPRRQDSEDHSSDMFNYEEYCTANAVTGPCRASFPRWY
  FDVERNSCNNFIYGGCRGNKNSYRSEEACMLRCFRQQENPPLPLGSKVVVLAGLFVMVLILFLGASMVYLIRVAR
  RNQERALRTVWSSGDDKEQLVKNTYVL

• Structural information:
  • Protein Domains: (38..8-)
    1 (/note="BPTI/Kunitz-inhibitor)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00031-)
    (133..18-)
    2 (/note="BPTI/Kunitz-inhibitor)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00031"-)
  • Interpro: IPR002223  IPR036880  IPR020901  
  • Prosite: PS00280 PS50279
  • CDD: cd00109
  • PDB: 4U32
  • PDBsum: 4U32
  • STRING: ENSP00000301244
• Other Databases: GeneCards:  SPINT2  Malacards:  SPINT2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005737	cytoplasm	IDA	cellular component
GO:0004867	serine-type endopeptidase inhibitor activity	IBA	molecular function
GO:0005886	plasma membrane	IBA	cellular component
GO:0004867	serine-type endopeptidase inhibitor activity	IDA	molecular function
GO:0004867	serine-type endopeptidase inhibitor activity	IEA	molecular function
GO:0030414	peptidase inhibitor activity	IEA	molecular function
GO:0010466	negative regulation of peptidase activity	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0004867	serine-type endopeptidase inhibitor activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0004866	endopeptidase inhibitor activity	TAS	molecular function
GO:0004867	serine-type endopeptidase inhibitor activity	TAS	molecular function
GO:0005576	extracellular region	TAS	cellular component
GO:0016021	integral component of membrane	TAS	cellular component
GO:2000146	negative regulation of cell motility	IDA	biological process
GO:0022408	negative regulation of cell-cell adhesion	IDA	biological process
GO:2000178	negative regulation of neural precursor cell proliferation	IEA	biological process
GO:0071773	cellular response to BMP stimulus	IEA	biological process
GO:0071711	basement membrane organization	IEA	biological process
GO:0060672	epithelial cell morphogenesis involved in placental branching	IEA	biological process
GO:0007163	establishment or maintenance of cell polarity	IEA	biological process
GO:0001843	neural tube closure	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0010951	negative regulation of endopeptidase activity	IEA	biological process
GO:0010951	negative regulation of endopeptidase activity	IEA	biological process
GO:0010951	negative regulation of endopeptidase activity	IEA	biological process
GO:0010951	negative regulation of endopeptidase activity	IEA	biological process
GO:0010951	negative regulation of endopeptidase activity	IEA	biological process
GO:0010951	negative regulation of endopeptidase activity	IEA	biological process

Diseases

Associated diseases	References
Congenital diarrhea	KEGG:H01174
Biliary atresia	PMID:21898507
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Hypospermatogenesis	MIK: 28361989
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray