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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

SPINT2 Gene

protein-coding   GIFtS: 62
GCID: GC19P038734

Serine Peptidase Inhibitor, Kunitz Type, 2

(Previous names: serine protease inhibitor, Kunitz type, 2)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Serine Peptidase Inhibitor, Kunitz Type, 21 2     DIAR32 5
Placental Bikunin1 2 3     Kop2
HAI22 3 5     PB2
Serine Protease Inhibitor, Kunitz Type, 21 2     Kunitz-Type Protease Inhibitor 22
Hepatocyte Growth Factor Activator Inhibitor Type 22 3     KOP3
HAI-22 3     

External Ids:    HGNC: 112471   Entrez Gene: 106532   Ensembl: ENSG000001676427   OMIM: 6051245   UniProtKB: O432913   

Export aliases for SPINT2 gene to outside databases

Previous GC identifers: GC19P039369 GC19P039146 GC19P043431 GC19P043447 GC19P038755 GC19P035203


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for SPINT2 Gene:
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)

GeneCards Summary for SPINT2 Gene: 
SPINT2 (serine peptidase inhibitor, Kunitz type, 2) is a protein-coding gene. Diseases associated with SPINT2 include diarrhea 3, secretory sodium, congenital, syndromic, and diarrhea. GO annotations related to this gene include serine-type endopeptidase inhibitor activity and endopeptidase inhibitor activity. An important paralog of this gene is WFIKKN2.

UniProtKB/Swiss-Prot: SPIT2_HUMAN, O43291
Function: Inhibitor of HGF activator. Also inhibits plasmin, plasma and tissue kallikrein, and factor XIa

Gene Wiki entry for SPINT2 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000019.9  NC_018930.2  NT_011109.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SPINT2 gene promoter:
         c-Fos   CREB   AP-1   deltaCREB   ATF-2   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSPINT2 promoter sequence
   Search SABiosciences Chromatin IP Primers for SPINT2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SPINT2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 19q13.1   Ensembl cytogenetic band:  19q13.2   HGNC cytogenetic band: 19q13.2

SPINT2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SPINT2 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19P038734:  view genomic region     (about GC identifiers)

Start:
38,734,675 bp from pter      End:
38,783,254 bp from pter
Size:
48,580 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: SPIT2_HUMAN, O43291 (See protein sequence)
Recommended Name: Kunitz-type protease inhibitor 2 precursor  
Size: 252 amino acids; 28228 Da
Subcellular location: Membrane; Single-pass type I membrane protein (Potential)
Secondary accessions: A8K667 B4DLU1 O00271 O14895 Q5TZQ3 Q969E0
Alternative splicing: 2 isoforms:  O43291-1   O43291-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for SPINT2: NX_O43291

Explore proteomics data for SPINT2 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_O43291

  • SPINT2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SPINT2 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001159575.1  NP_066925.1  

    ENSEMBL proteins: 
     ENSP00000465301   ENSP00000301244   ENSP00000466407   ENSP00000389788   ENSP00000465721  
     ENSP00000465561   ENSP00000468728   ENSP00000468519  

    Human Recombinant Protein Products for SPINT2: 
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    Novus Biologicals SPINT2 Proteins
    Novus Biologicals SPINT2 Lysates
    Sino Biological Recombinant Protein for SPINT2
    Sino Biological Cell Lysate for SPINT2 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for SPINT2 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS9346890
    GO:0005737cytoplasm IDA11606055
    GO:0016021integral to membrane IEA--

    SPINT2 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    2 InterPro protein domains:
     IPR002223 Prot_inh_Kunz-m
     IPR020901 Prtase_inh_Kunz-CS

    Graphical View of Domain Structure for InterPro Entry O43291

    ProtoNet protein and cluster: O43291

    1 Blocks protein domain: IPB002223 Pancreatic trypsin inhibitor (Kunitz)

    UniProtKB/Swiss-Prot: SPIT2_HUMAN, O43291
    Domain: This inhibitor contains two inhibitory domains
    Similarity: Contains 2 BPTI/Kunitz inhibitor domains


    SPINT2 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SPIT2_HUMAN, O43291
    Function: Inhibitor of HGF activator. Also inhibits plasmin, plasma and tissue kallikrein, and factor XIa

         Genatlas biochemistry entry for SPINT2:
    serine protease inhibitor,Kunitz-type 2,expressed at high level in placenta and brain and at lower levels in
    brain,lung,kidney with an endogenous soluble form called placental likumin,inhibiting trypsin,plasma kallikrein
    and plasmin,overexpressed in pancreatic cancer

         Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004866endopeptidase inhibitor activity TAS9115294
    GO:0004867serine-type endopeptidase inhibitor activity IEA--
         
    SPINT2 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for SPINT2:
     Decreased viability 

         4 MGI mutant phenotypes (inferred from 1 allele(MGI details for Spint2):
     embryogenesis  limbs/digits/tail  mortality/aging  nervous system 

    SPINT2 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for SPINT2 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for SPINT2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SPINT2 
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    hsa-miR-4254 hsa-miR-493* hsa-miR-138-2*
    SwitchGear 3'UTR luciferase reporter plasmidSPINT2 3' UTR sequence
    Inhib. RNA
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    LifeMap BioReagents: cell line associated with SPINT2: PureStem ES-210, Ecto-ntu Progenitor
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SPINT2


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for SPINT2 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1CFTR-dependent regulation of ion channels in Airway Epithelium (norm and CF)
    CFTR-dependent regulation of ion channels in Airway Epithelium (norm and CF)

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 GeneGo (Thomson Reuters) Pathway for SPINT2
        CFTR-dependent regulation of ion channels in Airway Epithelium (norm and CF)



    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for SPINT2

    STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

    5/7 Interacting proteins for SPINT2 (O432912, 3 ENSP000003012444) via UniProtKB, MINT, STRING, and/or I2D (see all 7)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CTSBP078583, ENSP000003420704I2D: score=1 STRING: ENSP00000342070
    HGFACQ047563, ENSP000003722244I2D: score=1 STRING: ENSP00000372224
    SUMO4Q6EEV63, ENSP000003186354I2D: score=1 STRING: ENSP00000318635
    ITIH3Q060333, ENSP000004157694I2D: score=1 STRING: ENSP00000415769
    ITIH2P198233I2D: score=1 
    About this table

    Gene Ontology (GO): 2 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006928cellular component movement TAS9434156
    GO:0010951negative regulation of endopeptidase activity TAS9115294

    SPINT2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    SPINT2 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for SPINT2 (SPIT2)

    2 Novoseek inferred chemical compound relationships for SPINT2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    serine 81.3 93 19592578 (3), 9346890 (2), 10091663 (2), 10049781 (2) (see all 76)
    5-aza-2'deoxycytidine 66.5 3 15911243 (1), 19107935 (1)

    Search CenterWatch for drugs/clinical trials and news about SPINT2 / SPIT2

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for SPINT2 gene (2 alternative transcripts): 
    NM_001166103.1  NM_021102.3  

    Unigene Cluster for SPINT2:

    Serine peptidase inhibitor, Kunitz type, 2
    Hs.31439  [show with all ESTs]
    Unigene Representative Sequence: NM_021102
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000590510 ENST00000301244(uc002ohr.2) ENST00000587090 ENST00000454580(uc002ohs.2)
    ENST00000587516 ENST00000590210 ENST00000592007 ENST00000585357 ENST00000589749
    ENST00000590738 ENST00000587334
    miRNA
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    3 QIAGEN miScript miRNA Assays for microRNAs that regulate SPINT2:
    hsa-miR-4254 hsa-miR-493* hsa-miR-138-2*
    SwitchGear 3'UTR luciferase reporter plasmidSPINT2 3' UTR sequence
    Inhib. RNA
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SPINT2

    Additional mRNA sequence: 

    AB006534.1 AF027205.1 AK291532.1 AK297154.1 BC001668.2 BC007705.2 BC011951.1 BC011955.1 
    BC012868.2 BT020115.1 BT020116.1 BT020117.1 CR407604.1 U78095.1 Z36849.1 

    24/33 DOTS entries (see all 33):

    DT.419008  DT.100688693  DT.91867877  DT.121483135  DT.121483096  DT.92461304  DT.100826809  DT.425171 
    DT.100826804  DT.100826787  DT.97821520  DT.100039269  DT.100826803  DT.86841038  DT.100775708  DT.95108735 
    DT.97864585  DT.121483116  DT.92461311  DT.95108637  DT.95108737  DT.100663529  DT.100764062  DT.100826789 

    24/1051 AceView cDNA sequences (see all 1051):

    BQ891738 AI951081 BE315354 BQ877469 BM848988 BE670110 BE796157 CR602617 
    BE394400 BM786744 AA877526 BM833446 BE392012 BE906395 AI298683 AU119339 
    AX772830 AW264855 CB109881 BC014264 BM830032 BM842920 AI915714 BE741281 

    GeneLoc Exon Structure

    5/10 Alternative Splicing Database (ASD) splice patterns (SP) for SPINT2 (see all 10)    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5a · 5b · 5c ^ 6a · 6b · 6c ^ 7a · 7b ^ 8a · 8b · 8c
    SP1:                                      -                             -     -                 -                           
    SP2:                                -     -                             -     -                 -                           
    SP3:                                      -     -     -                 -     -                 -                           
    SP4:                                      -                 -     -     -     -                 -                           
    SP5:                                                              -     -     -     -           -                           


    ECgene alternative splicing isoforms for SPINT2

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    SPINT2 expression in normal human tissues (normalized intensities)      SPINT2 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCCTGCAGTC
    SPINT2 Expression
    About this image


    SPINT2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/34 selected tissues (see all 34) fully expand
     
     Epithelium
             Human Bronchial Epithelial Cells (HBEpiC)   
     
     Lung (Respiratory System)    fully expand to see all 8 entries
             Trachea
             Human Bronchial Epithelial Cells (HBEpiC)   
             visceral organ/lung/left lung   
     
     Inner Cell Mass (Early Embryonic Tissues)    fully expand to see all 8 entries
             ES03(HES-3)
             ESI-017   
     
     Eye (Sensory Organs)    fully expand to see all 6 entries
             nGnG Amacrine Cells Inner Nuclear Layer
             Human Iris Pigment Epithelial Cells (HIPEpiC)   
             sensory organ/eye/cornea   
     
     Kidney (Urinary System)    fully expand to see all 6 entries
             Metanephros
             Human Renal Mesangial Cells (HRMC)   
             visceral organ/metanephros/calyx   

    See SPINT2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SPINT2

    SOURCE GeneReport for Unigene cluster: Hs.31439

    UniProtKB/Swiss-Prot: SPIT2_HUMAN, O43291
    Tissue specificity: Expressed in placenta, kidney, pancreas, prostate, testis, thymus, and trachea

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SPINT2

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for SPINT2 gene from 3/9 species (see all 9)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Spint21 , 5 serine protease inhibitor, Kunitz type 21, 5 77.51(n)1
    70.63(a)1
      7 (16.94 cM)5
    207331  NM_011464.21  NP_035594.11 
     292563315 
    lizard
    (Anolis carolinensis)
    Reptilia SPINT26
    --
    --
    40(a)
    31(a)
    1 ↔ 1
    possible ortholog
    LGf(1851295-1861237)
    GL343322.1(877695-880133)
    zebrafish
    (Danio rerio)
    Actinopterygii spint26
    serine peptidase inhibitor, Kunitz type, 2
    7(a)
    possible ortholog
    15(19200783-19212158)


    ENSEMBL Gene Tree for SPINT2 (if available)
    TreeFam Gene Tree for SPINT2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SPINT2 gene
    WFIKKN22  AMBP2  SPINT32  SPINT12  TFPI22  WFIKKN12  TFPI2  
    6 SIMAP similar genes for SPINT2 using alignment to 8 protein entries:     SPIT2_HUMAN (see all proteins):
    ITIL    EPPIN    TFPI    SPINT3    TFPI2    COL28A1

    SPINT2 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/655 SNPs in SPINT2 are shown (see all 655)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0587184
    Diarrhea 3, secretory sodium, congenital (DIAR3)4--see VAR_0587182 Y C mis40--------
    rs1219084031,2
    Cpathogenic138929534(+) CATCTA/GTGGAG 4 Y C mis11Minor allele frequency- G:0.00EU 1323
    rs1119152841,2
    C--38757180(+) GCATGG/ATGGTG 2 -- int11Minor allele frequency- A:0.50CSA 2
    rs58280071,2
    C--38757316(+) GTCTC-/AAAAAA 2 -- int1 trp32Minor allele frequency- A:0.25NA CSA 4
    rs1133473611,2
    C,F--38760463(+) CCAGGC/ATGGTC 2 -- int12Minor allele frequency- A:0.50WA NA 4
    rs609570531,2
    C--38773645(+) TTTTG-/T/TT  
            
    TTTTT
    2 -- int11CSA 2
    rs1117715181,2
    C--38777963(+) CCTCCG/AGAGTA 2 -- int11Minor allele frequency- A:0.50CSA 2
    rs1384072181,2
    --38901898(+) GGTGGA/GCGGAT 2 -- us2k10--------
    rs1133436181,2
    C,F--38901905(+) GGATCG/CTGAGG 2 -- us2k11Minor allele frequency- C:0.50CSA 2
    rs1911691191,2
    --38901912(+) GAGGTC/TAGAAG 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for SPINT2 (38734675 - 38783254 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for SPINT2:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv833821CNV Loss17160897
    nsv833822CNV Loss17160897


    Human Gene Mutation Database (HGMD): SPINT2
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 605124   
    OMIM disorders: 270420  
    UniProtKB/Swiss-Prot: SPIT2_HUMAN, O43291
  • Diarrhea 3, secretory sodium, congenital (DIAR3) [MIM:270420]: A disease characterized by
    life-threatening secretory diarrhea, severe metabolic acidosis and hyponatremia. Hyponatremia is secondary to
    extraordinarily high fecal sodium loss, with low or normal excretion of urinary sodium, in the absence of
    infectious, autoimmune and endocrine causes. Note=The disease is caused by mutations affecting the gene
    represented in this entry

  • 20/41 diseases for SPINT2 (see all 41):    About MalaCards
    diarrhea 3, secretory sodium, congenital, syndromic    diarrhea    tufting enteropathy    secretory diarrhea
    c1 inhibitor deficiency    alpha 1-antitrypsin deficiency    childhood medulloblastoma    metabolic acidosis
    clear cell renal cell carcinoma    allergic asthma    idiopathic pulmonary fibrosis    medulloblastoma
    teratocarcinoma    renal cell carcinoma    pulmonary fibrosis    chondrosarcoma
    bladder carcinoma    pancreatic cancer    thyroid cancer    atopic dermatitis


    SPINT2 for disorders           About GeneDecksing

    10/11 Novoseek inferred disease relationships for SPINT2 gene (see all 11)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    carcinoma squamous cell 31.2 3 11948124 (1), 15677460 (1), 19332150 (1)
    metastasis 23.2 8 14732229 (1), 16557597 (1), 15149745 (1), 19073519 (1) (see all 6)
    carcinoma renal cell 20.6 2 17309599 (2)
    tumors 20 23 19047176 (3), 14734471 (2), 17255277 (1), 14732229 (1) (see all 11)
    pancreatic cancer 15.1 3 10695988 (1), 9434156 (1)
    breast cancer 6.34 20 17255277 (7), 14734471 (6), 16557597 (2), 12220518 (1)
    gastric cancer 5.79 4 10824123 (1), 10762618 (1), 10049781 (1)
    inflammation 0 1 11972486 (1)
    adenocarcinoma 0 1 11948124 (1)
    prostate cancer 0 5 16353247 (4), 14732229 (1)


    Export disorders for SPINT2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for SPINT2 gene, integrated from 9 sources (see all 135):
    (articles sorted by number of sources associating them with SPINT2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Purification and cloning of hepatocyte growth factor activator inhibitor type 2, a Kunitz-type serine protease inhibitor. (PubMed id 9346890)1, 2, 3, 9 Kawaguchi T....Kitamura N. (1997)
    2. Identification and cloning of human placental bikunin, a novel serine protease inhibitor containing two Kunitz domains. (PubMed id 9115294)1, 2, 3, 9 Marlor C.W....Tamburini P.P. (1997)
    3. Cloning of a new Kunitz-type protease inhibitor with a putative transmembrane domain overexpressed in pancreatic cancer. (PubMed id 9434156)1, 2, 9 Mueller-Pillasch F.... Gress T.M. (1998)
    4. Mutations in SPINT2 cause a syndromic form of congenital sodium diarrhea. (PubMed id 19185281)1, 2 Heinz-Erian P....Janecke A.R. (2009)
    5. Signal peptide prediction based on analysis of experimentally verified cleavage sites. (PubMed id 15340161)1, 2 Zhang Z. and Henzel W.J. (2004)
    6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    7. Regulation of hepatocyte growth factor activator inhibitor 2 by hypoxia in breast cancer. (PubMed id 17255277)1, 9 Generali D....Harris A.L. (2007)
    8. Hepatocyte growth factor activator inhibitor-2 (HAI-2) is a favorable prognosis marker and inhibits cell growth through the apoptotic pathway in cervical cancer. (PubMed id 18689863)1, 9 Nakamura K....Hiramatsu Y. (2009)
    9. Expression of hepatocyte growth factor activator inhibitor type 2 (HAI-2) in human testis: identification of a distinct transcription start site for the HAI-2 gene in testis. (PubMed id 12553733)1, 9 Yamauchi M....Kataoka H. (2002)
    10. Expression of hepatocyte growth factor activator inhibitors (HAI-1 and HAI-2) in ovarian cancer. (PubMed id 19148468)1, 9 Nakamura K....Hiramatsu Y. (2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 10653 HGNC: 11247 AceView: SPINT2andC19orf33 Ensembl:ENSG00000167642 euGenes: HUgn10653
    ECgene: SPINT2 H-InvDB: SPINT2

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for SPINT2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for SPINT2 gene:
    Search GeneIP for patents involving SPINT2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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