Human Gene SPINT2 (uc002ohs.2) Description and Page Index
  Description: Homo sapiens serine peptidase inhibitor, Kunitz type, 2 (SPINT2), transcript variant b, mRNA.
RefSeq Summary (NM_001166103): 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 suppressor, and mutations in this gene result in congenital sodium diarrhea. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009].
Transcript (Including UTRs)
   Position: hg19 chr19:38,755,098-38,783,254 Size: 28,157 Total Exon Count: 6 Strand: +
Coding Region
   Position: hg19 chr19:38,755,533-38,782,646 Size: 27,114 Coding Exon Count: 6 

Page IndexSequence and LinksMalaCardsCTDGene AllelesRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesmRNA DescriptionsOther Names
Model InformationMethods
Data last updated: 2013-06-15

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr19:38,755,098-38,783,254)mRNA (may differ from genome)Protein (195 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblEntrez GeneExonPrimerGeneCardsH-INV
HGNCLynxMGIOMIMPubMedReactome
Stanford SOURCEUniProtKBWikipedia

-  MalaCards Disease Associations
  MalaCards Gene Search: SPINT2
Diseases sorted by gene-association score: diarrhea 3, secretory sodium, congenital, syndromic* (1650), diarrhea (26), secretory diarrhea (12), diarrhea 5, with tufting enteropathy, congenital (10), c1 inhibitor deficiency (7), congenital diarrhea (7)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 263.32 RPKM in Pituitary
Total median expression: 2663.33 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -230.30435-0.529 Picture PostScript Text
3' UTR -187.47608-0.308 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  Pfam Domains:
PF00014 - Kunitz/Bovine pancreatic trypsin inhibitor domain

SCOP Domains:
57362 - BPTI-like

ModBase Predicted Comparative 3D Structure on O43291-2
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
 Protein Sequence    
 Alignment    

-  Descriptions from all associated GenBank mRNAs
  BC001668 - Homo sapiens serine peptidase inhibitor, Kunitz type, 2, mRNA (cDNA clone MGC:2021 IMAGE:2959462), complete cds.
AX772830 - Sequence 27 from Patent WO03046180.
AB006534 - Homo sapiens mRNA for hepatocyte growth factor activator inhibitor type 2, complete cds.
BC012868 - Homo sapiens serine peptidase inhibitor, Kunitz type, 2, mRNA (cDNA clone MGC:9154 IMAGE:3857277), complete cds.
U78095 - Homo sapiens placental bikunin mRNA, complete cds.
BC007705 - Homo sapiens serine peptidase inhibitor, Kunitz type, 2, mRNA (cDNA clone MGC:11327 IMAGE:3952243), complete cds.
AK291532 - Homo sapiens cDNA FLJ76861 complete cds, highly similar to Homo sapiens serine peptidase inhibitor, Kunitz type, 2 (SPINT2), mRNA.
AF027205 - Homo sapiens Kunitz-type protease inhibitor (kop) mRNA, complete cds.
BC011951 - Homo sapiens serine peptidase inhibitor, Kunitz type, 2, mRNA (cDNA clone MGC:17171 IMAGE:3856970), complete cds.
JD460922 - Sequence 441946 from Patent EP1572962.
BC011955 - Homo sapiens serine peptidase inhibitor, Kunitz type, 2, mRNA (cDNA clone MGC:17172 IMAGE:3857238), complete cds.
JD459096 - Sequence 440120 from Patent EP1572962.
JD167838 - Sequence 148862 from Patent EP1572962.
JD196336 - Sequence 177360 from Patent EP1572962.
AK297154 - Homo sapiens cDNA FLJ52992 complete cds, highly similar to Kunitz-type protease inhibitor 2 precursor.
HM005496 - Homo sapiens clone HTL-T-183 testicular tissue protein Li 183 mRNA, complete cds.
CU680126 - Synthetic construct Homo sapiens gateway clone IMAGE:100016892 5' read SPINT2 mRNA.
KJ898270 - Synthetic construct Homo sapiens clone ccsbBroadEn_07664 SPINT2 gene, encodes complete protein.
KR709384 - Synthetic construct Homo sapiens clone CCSBHm_00001626 SPINT2 (SPINT2) mRNA, encodes complete protein.
KJ906053 - Synthetic construct Homo sapiens clone ccsbBroadEn_15723 SPINT2 gene, encodes complete protein.
CR407604 - Homo sapiens full open reading frame cDNA clone RZPDo834G037D for gene SPINT2, serine protease inhibitor, Kunitz type, 2 complete cds, without stopcodon.
BT020115 - Homo sapiens serine protease inhibitor, Kunitz type, 2 mRNA, complete cds.
BT020116 - Homo sapiens serine protease inhibitor, Kunitz type, 2 mRNA, complete cds.
BT020117 - Homo sapiens serine protease inhibitor, Kunitz type, 2 mRNA, complete cds.
DQ597458 - Homo sapiens piRNA piR-35524, complete sequence.
AK127479 - Homo sapiens cDNA FLJ45571 fis, clone BRTHA3010540.
JD161498 - Sequence 142522 from Patent EP1572962.
JD204165 - Sequence 185189 from Patent EP1572962.
JD426065 - Sequence 407089 from Patent EP1572962.
JD076913 - Sequence 57937 from Patent EP1572962.
JD550974 - Sequence 531998 from Patent EP1572962.
JD113821 - Sequence 94845 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: HAI2, KOP, NM_001166103, NP_001159575, O43291-2
UCSC ID: uc002ohs.2
RefSeq Accession: NM_001166103
Protein: O43291-2, splice isoform of O43291 CCDS: CCDS54261.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_001166103.1
exon count: 6CDS single in 3' UTR: no RNA size: 1646
ORF size: 588CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 1376.00frame shift in genome: no % Coverage: 99.09
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.