Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	10653
Gene name	Serine peptidase inhibitor, Kunitz type 2
Gene symbol	SPINT2
Synonyms (NCBI Gene)	DIAR3HAI-2HAI2KopPB
Chromosome	19
Chromosome location	19q13.2
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

Show/Hide all (7)

SNP ID	Visualize variation	Clinical significance	Consequence
rs112576957	T>A,C	Pathogenic	Splice donor variant
rs121908403	A>G	Pathogenic	Coding sequence variant, missense variant
rs121908404	A>T	Pathogenic	Initiator codon variant, missense variant
rs606231154	G>A	Pathogenic	Splice acceptor variant
rs606231155	T>C	Pathogenic	Splice donor variant
rs606231284	G>A	Pathogenic	Coding sequence variant, missense variant
rs780880496	G>A,T	Pathogenic	Missense variant, coding sequence variant, stop gained

114

Show/Hide all (114)

miRTarBase ID	miRNA	Experiments	Reference
MIRT574111	hsa-miR-583	PAR-CLIP	20371350
MIRT574110	hsa-miR-4677-3p	PAR-CLIP	20371350
MIRT574109	hsa-miR-4679	PAR-CLIP	20371350
MIRT574108	hsa-miR-3182	PAR-CLIP	20371350
MIRT574107	hsa-miR-539-5p	PAR-CLIP	20371350
MIRT574108	hsa-miR-3182	PAR-CLIP	27292025
MIRT574110	hsa-miR-4677-3p	PAR-CLIP	27292025
MIRT574109	hsa-miR-4679	PAR-CLIP	27292025
MIRT574107	hsa-miR-539-5p	PAR-CLIP	27292025
MIRT574111	hsa-miR-583	PAR-CLIP	27292025
MIRT574111	hsa-miR-583	PAR-CLIP	20371350
MIRT574110	hsa-miR-4677-3p	PAR-CLIP	20371350
MIRT574109	hsa-miR-4679	PAR-CLIP	20371350
MIRT574108	hsa-miR-3182	PAR-CLIP	20371350
MIRT574107	hsa-miR-539-5p	PAR-CLIP	20371350
MIRT1384639	hsa-miR-1237	CLIP-seq
MIRT1384640	hsa-miR-1248	CLIP-seq
MIRT1384641	hsa-miR-1273	CLIP-seq
MIRT1384642	hsa-miR-1298	CLIP-seq
MIRT1384643	hsa-miR-1910	CLIP-seq
MIRT1384644	hsa-miR-2355-5p	CLIP-seq
MIRT1384645	hsa-miR-3124-3p	CLIP-seq
MIRT1384646	hsa-miR-342-3p	CLIP-seq
MIRT1384647	hsa-miR-3613-3p	CLIP-seq
MIRT1384648	hsa-miR-3691-5p	CLIP-seq
MIRT1384649	hsa-miR-377	CLIP-seq
MIRT1384650	hsa-miR-3909	CLIP-seq
MIRT1384651	hsa-miR-3919	CLIP-seq
MIRT1384652	hsa-miR-3942-3p	CLIP-seq
MIRT1384653	hsa-miR-4287	CLIP-seq
MIRT1384654	hsa-miR-4320	CLIP-seq
MIRT1384655	hsa-miR-4418	CLIP-seq
MIRT1384656	hsa-miR-4474-5p	CLIP-seq
MIRT1384657	hsa-miR-4477a	CLIP-seq
MIRT1384658	hsa-miR-4494	CLIP-seq
MIRT1384659	hsa-miR-4508	CLIP-seq
MIRT1384660	hsa-miR-4685-3p	CLIP-seq
MIRT1384661	hsa-miR-4690-3p	CLIP-seq
MIRT1384662	hsa-miR-4752	CLIP-seq
MIRT1384663	hsa-miR-4762-5p	CLIP-seq
MIRT1384664	hsa-miR-4789-3p	CLIP-seq
MIRT1384665	hsa-miR-499-3p	CLIP-seq
MIRT1384666	hsa-miR-499a-3p	CLIP-seq
MIRT1384667	hsa-miR-509-3-5p	CLIP-seq
MIRT1384668	hsa-miR-509-5p	CLIP-seq
MIRT1384669	hsa-miR-539	CLIP-seq
MIRT1384670	hsa-miR-581	CLIP-seq
MIRT1384671	hsa-miR-664	CLIP-seq
MIRT1384672	hsa-miR-888	CLIP-seq
MIRT1384673	hsa-miR-1205	CLIP-seq
MIRT1384674	hsa-miR-151-5p	CLIP-seq
MIRT1384675	hsa-miR-151b	CLIP-seq
MIRT1384676	hsa-miR-1972	CLIP-seq
MIRT1384677	hsa-miR-3125	CLIP-seq
MIRT1384678	hsa-miR-3167	CLIP-seq
MIRT1384679	hsa-miR-3916	CLIP-seq
MIRT1384655	hsa-miR-4418	CLIP-seq
MIRT1384658	hsa-miR-4494	CLIP-seq
MIRT1384659	hsa-miR-4508	CLIP-seq
MIRT1384680	hsa-miR-4737	CLIP-seq
MIRT1384667	hsa-miR-509-3-5p	CLIP-seq
MIRT1384668	hsa-miR-509-5p	CLIP-seq
MIRT1384681	hsa-miR-765	CLIP-seq
MIRT1384682	hsa-miR-876-5p	CLIP-seq
MIRT1384683	hsa-miR-877	CLIP-seq
MIRT1384639	hsa-miR-1237	CLIP-seq
MIRT1384640	hsa-miR-1248	CLIP-seq
MIRT2115140	hsa-miR-186	CLIP-seq
MIRT1384643	hsa-miR-1910	CLIP-seq
MIRT2115141	hsa-miR-203	CLIP-seq
MIRT1384644	hsa-miR-2355-5p	CLIP-seq
MIRT2115142	hsa-miR-3117-3p	CLIP-seq
MIRT2115143	hsa-miR-3133	CLIP-seq
MIRT2115144	hsa-miR-3169	CLIP-seq
MIRT1384646	hsa-miR-342-3p	CLIP-seq
MIRT1384649	hsa-miR-377	CLIP-seq
MIRT1384651	hsa-miR-3919	CLIP-seq
MIRT1384652	hsa-miR-3942-3p	CLIP-seq
MIRT1384653	hsa-miR-4287	CLIP-seq
MIRT1384656	hsa-miR-4474-5p	CLIP-seq
MIRT1384660	hsa-miR-4685-3p	CLIP-seq
MIRT1384661	hsa-miR-4690-3p	CLIP-seq
MIRT2115145	hsa-miR-4759	CLIP-seq
MIRT1384664	hsa-miR-4789-3p	CLIP-seq
MIRT1384665	hsa-miR-499-3p	CLIP-seq
MIRT1384666	hsa-miR-499a-3p	CLIP-seq
MIRT1384669	hsa-miR-539	CLIP-seq
MIRT2115146	hsa-miR-548ae	CLIP-seq
MIRT2115147	hsa-miR-548aj	CLIP-seq
MIRT2115148	hsa-miR-548am	CLIP-seq
MIRT2115149	hsa-miR-548x	CLIP-seq
MIRT2115150	hsa-miR-642a	CLIP-seq
MIRT1384673	hsa-miR-1205	CLIP-seq
MIRT1384674	hsa-miR-151-5p	CLIP-seq
MIRT1384675	hsa-miR-151b	CLIP-seq
MIRT1384677	hsa-miR-3125	CLIP-seq
MIRT1384678	hsa-miR-3167	CLIP-seq
MIRT1384679	hsa-miR-3916	CLIP-seq
MIRT1384655	hsa-miR-4418	CLIP-seq
MIRT1384658	hsa-miR-4494	CLIP-seq
MIRT1384659	hsa-miR-4508	CLIP-seq
MIRT1384680	hsa-miR-4737	CLIP-seq
MIRT1384667	hsa-miR-509-3-5p	CLIP-seq
MIRT1384668	hsa-miR-509-5p	CLIP-seq
MIRT1384681	hsa-miR-765	CLIP-seq
MIRT1384682	hsa-miR-876-5p	CLIP-seq
MIRT1384683	hsa-miR-877	CLIP-seq
MIRT2115140	hsa-miR-186	CLIP-seq
MIRT2115141	hsa-miR-203	CLIP-seq
MIRT2115142	hsa-miR-3117-3p	CLIP-seq
MIRT2115143	hsa-miR-3133	CLIP-seq
MIRT2115144	hsa-miR-3169	CLIP-seq
MIRT2115145	hsa-miR-4759	CLIP-seq
MIRT1384669	hsa-miR-539	CLIP-seq

Show/Hide all (21)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001843	Process	Neural tube closure	IEA
GO:0004866	Function	Endopeptidase inhibitor activity	TAS	9115294
GO:0004867	Function	Serine-type endopeptidase inhibitor activity	IBA
GO:0004867	Function	Serine-type endopeptidase inhibitor activity	IDA	19185281, 25301953
GO:0004867	Function	Serine-type endopeptidase inhibitor activity	IEA
GO:0004867	Function	Serine-type endopeptidase inhibitor activity	TAS	9434156
GO:0005576	Component	Extracellular region	TAS	9346890
GO:0005737	Component	Cytoplasm	IDA	11606055
GO:0005737	Component	Cytoplasm	IEA
GO:0005794	Component	Golgi apparatus	IDA
GO:0005886	Component	Plasma membrane	IEA
GO:0007163	Process	Establishment or maintenance of cell polarity	IEA
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	TAS	9434156
GO:0022408	Process	Negative regulation of cell-cell adhesion	IDA	19592578
GO:0030414	Function	Peptidase inhibitor activity	IEA
GO:0060672	Process	Epithelial cell morphogenesis involved in placental branching	IEA
GO:0071711	Process	Basement membrane organization	IEA
GO:0071773	Process	Cellular response to BMP stimulus	IEA
GO:2000146	Process	Negative regulation of cell motility	IDA	19592578
GO:2000178	Process	Negative regulation of neural precursor cell proliferation	IEA

MIM	HGNC	e!Ensembl
605124	11247	ENSG00000167642

O43291

Protein name

Kunitz-type protease inhibitor 2 (Hepatocyte growth factor activator inhibitor type 2) (HAI-2) (Placental bikunin)

Protein function

Inhibitor of HGFAC (PubMed:9346890). Also inhibits plasmin, and plasma and tissue kallikrein (PubMed:9115294). Inhibits serine protease activity of TMPRSS13 (PubMed:20977675, PubMed:28710277). Inhibits serine protease activity of ST14/matriptase

PDB

4U32

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00014	Kunitz_BPTI	37 → 89	Kunitz/Bovine pancreatic trypsin inhibitor domain	Domain
PF00014	Kunitz_BPTI	132 → 184	Kunitz/Bovine pancreatic trypsin inhibitor domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed in placenta, kidney, pancreas, prostate, testis, thymus, and trachea. {ECO:0000269|PubMed:9346890}.

Sequence

MAQLCGLRRSRAFLALLGSLLLSGVLAADRERSIHDFCLVSKVVGRCRASMPRWWYNVTD
GSCQLFVYGGCDGNSNNYLTKEECLKKCATVTENATGDLATSRNAADSSVPSAPRRQDSE
DHSSDMFNYEEYCTANAVTGPCRASFPRWYFDVERNSCNNFIYGGCRGNKNSYRSEEACM
LRCFRQQENPPLPLGSKVVVLAGLFVMVLILFLGASMVYLIRVARRNQERALRTVWSSGD
DKEQLVKNTYVL

Sequence length

252

Interactions

View interactions

	Reactome
			MET Receptor Activation Signaling by MST1

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Congenital secretory sodium diarrhea 3	Likely pathogenic; Pathogenic	rs2146278813, rs606231284, rs1348196809, rs606231154, rs121908403, rs606231155, rs112576957, rs121908404, rs1224874674, rs1968606914, rs780880496	RCV001779963 RCV002468935 RCV004999776 RCV002468917 RCV002468918 RCV002468919 RCV002468920 RCV002468921 RCV003225652 RCV003985211 RCV002468944
Hepatocellular carcinoma	Likely pathogenic	rs2146278822	RCV005912618

Show/Hide Unknown Diseases (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Cholangiocarcinoma	Benign	rs8104823	RCV005923029
Congenital sodium diarrhea	Uncertain significance	rs781030322, rs1195665162	RCV003483818 RCV005863506
Familial cancer of breast	Benign	rs8104823	RCV005923026
SPINT2-related disorder	Likely benign; Benign	rs141683432, rs143567268, rs149527577, rs544029586, rs777327266, rs764287916, rs538522427	RCV004758164 RCV003908625 RCV004758184 RCV003958680 RCV003960919 RCV003926635 RCV003903084
Uterine carcinosarcoma	Benign	rs8104823	RCV005923028
Uveal melanoma	Benign	rs8104823	RCV005923027

Show/Hide Text Mining Associations (48)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Breast Neoplasms	Associate	25786220, 26171609, 34381422
Carcinoma Hepatocellular	Associate	33237575
Carcinoma Renal Cell	Associate	17309599, 18195710
Choanal Atresia	Associate	28716867
Chordoma	Associate	24452533
Cleft Lip	Associate	29575628
Coloboma	Associate	29575628
Coloboma of optic nerve	Associate	29575628
Colonic Diseases	Inhibit	34181691
Colonic Neoplasms	Associate	38271183
Colorectal Neoplasms	Associate	35352485
COVID 19	Inhibit	34181691
Deltaretrovirus Infections	Associate	25233462
Diabetes Mellitus Type 2	Associate	34181691
Diarrhea	Associate	38271183
Diarrhea 3 Secretory Sodium Congenital	Associate	19185281, 26358773, 28716867, 29499739, 29575628, 34089062, 38271183
Diarrhea 5 With Tufting Enteropathy Congenital	Associate	29575628
Epithelial Recurrent Erosion Dystrophy	Associate	29575628
Exotropia	Associate	29575628
Failure to Thrive	Associate	28716867
Glioblastoma	Inhibit	26233891
Glioma	Associate	26233891
Hypoxia	Associate	34299087
Idiopathic Noncirrhotic Portal Hypertension	Associate	33237575
Inflammation	Associate	23020131
Leukemia Myeloid Acute	Associate	30484958
Lymphatic Metastasis	Inhibit	18689863
Melanoma	Associate	23020131
Moyamoya Disease	Associate	37400835
Myelodysplastic Syndromes	Associate	24410667
Myelodysplastic Syndromes	Inhibit	30484958
Neoplasms	Inhibit	26233891, 26442953, 29843210, 34181691
Neoplasms	Associate	29499737, 30777474, 32887258, 34962618, 35352485
Optic Nerve Diseases	Associate	29575628
Ovarian Diseases	Associate	18689863
Ovarian Neoplasms	Associate	29499737
Papillomavirus Infections	Associate	29843210
Placenta Diseases	Associate	34299087
Placental Insufficiency	Associate	34299087
Pre Eclampsia	Stimulate	34299087
Prostatic Neoplasms	Inhibit	26442953
Prostatic Neoplasms	Associate	31337649
Prostatitis	Associate	26442953
Tetraploidy	Associate	34962618
Thyroid Cancer Papillary	Associate	32887258
Trichohepatoenteric Syndrome	Associate	28716867
Uterine Cervical Neoplasms	Associate	18689863, 29843210
Virus Diseases	Associate	34181691

SPINT2 (serine peptidase inhibitor, Kunitz type 2)