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SPINT2 Gene

protein-coding   GIFtS: 62
GCID: GC19P038734

Serine Peptidase Inhibitor, Kunitz Type, 2

(Previous names: serine protease inhibitor, Kunitz type, 2)
  See SPINT2-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)
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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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 tufting enteropathy. GO annotations related to this gene include serine-type endopeptidase inhibitor activity and endopeptidase inhibitor activity. An important paralog of this gene is SPINT1.

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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000019.9  NC_018930.2  NT_011109.17  
Regulatory elements:
   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 Chromatin IP Primers for SPINT2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: SPIT2_HUMAN, O43291 (See protein sequence)
Recommended Name: Kunitz-type protease inhibitor 2 precursor  
Size: 252 amino acids; 28228 Da
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: 

  • Ubiquitination2 at Lys242, Lys247
  • Glycosylation2 at Asn57, Asn94, Thr101, Ser102, Ser108, Ser109, Ser112
  • Modification sites at PhosphoSitePlus

  • See SPINT2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

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

    ENSEMBL proteins: 
     ENSP00000465301   ENSP00000301244   ENSP00000466407   ENSP00000389788   ENSP00000465721  
     ENSP00000465561   ENSP00000468728   ENSP00000468519  

    SPINT2 Human Recombinant Protein Products:

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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

     
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    antibodies-online proteins for SPINT2 (11 products) 

     
    antibodies-online peptides for SPINT2

    SPINT2 Antibody Products:

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    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


    Find genes that share domains with SPINT2           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004866endopeptidase inhibitor activity TAS9115294
    GO:0004867serine-type endopeptidase inhibitor activity IEA--
         
    Find genes that share ontologies with SPINT2           About GenesLikeMe


    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 

    Find genes that share phenotypes with SPINT2           About GenesLikeMe

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for SPINT2

    miRNA
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    3 qRT-PCR 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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    Predesigned siRNA for gene silencing in human, mouse, rat SPINT2

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    GenScript: all cDNA clones in your preferred vector (see all 2): SPINT2 (NM_021102)
    Sino Biological Human cDNA Clone for SPINT2
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SPINT2

    Cell Line
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    ESI BIO PureStem Progenitor for SPINT2: 
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    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SPINT2


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    SPIT2_HUMAN, O43291: Membrane; Single-pass type I membrane protein (Potential)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular4
    cytoskeleton1
    cytosol1
    plasma membrane1

    Gene Ontology (GO): 3 cellular component terms:    About this table

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

    Find genes that share ontologies with SPINT2           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    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)



        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for SPINT2
    Interactions:

        GeneGlobe Interaction Network for SPINT2

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

    Selected 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:    About this table

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

    Find genes that share ontologies with SPINT2           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    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)



    Find genes that share compounds with SPINT2           About GenesLikeMe



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    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 qRT-PCR 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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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat SPINT2
      QuantiTect SYBR Green Assays in human, mouse, rat SPINT2
      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 

    Selected 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 

    Selected AceView cDNA sequences (see all 1051):

    BM843457 BQ880470 BE378742 AI432027 AL548687 CA844099 AI886674 BU542318 
    BQ218006 AI471132 BF917214 BM352571 BM544850 BM550172 BQ949537 CD172529 
    BU542216 BI827386 BM977432 AA922717 BM761713 BM791282 AI274479 CB128707 

    GeneLoc Exon Structure

    Selected 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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    SPINT2 expression in normal human tissues (normalized intensities)
    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
     selected tissues (see all 25) fully expand
     
     Kidney (Urinary System)    fully expand to see all 3 entries
             Ureteric Bud Cells Ureteric Bud
             Metanephros
     
     Gut Tube (Gastrointestinal Tract)    fully expand to see all 3 entries
             Hindgut
     
     Inner Cell Mass (Early Embryonic Tissues)    fully expand to see all 3 entries
             Human embryonic stem cells (family)
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Medulla Oblongata
     
     Testis (Reproductive System)
             Vas Deferens
    SPINT2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SPINT2 Protein Expression

    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
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    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)
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    This gene was present in the common ancestor of chordates.

    Orthologs for SPINT2 gene from Selected species (see all 11)    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
    serine peptidase inhibitor, Kunitz type, 2
    36(a)
    1 ↔ 1
    LGf(1851295-1861237)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia spint21 serine peptidase inhibitor, Kunitz type, 2 51.22(n)
    41.67(a)
      733874  NM_001045612.2  NP_001039077.1 
    zebrafish
    (Danio rerio)
    Actinopterygii spint21 serine peptidase inhibitor, Kunitz type, 2 52.8(n)
    42.24(a)
      562009  NM_001077250.2  NP_001070718.2 


    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)
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    Paralogs for SPINT2 gene
    SPINT12  LRP112  
    6 SIMAP similar genes for SPINT2 using alignment to 8 protein entries:     SPIT2_HUMAN (see all proteins):
    ITIL    EPPIN    TFPI    SPINT3    TFPI2    COL28A1

    Find genes that share paralogs with SPINT2           About GenesLikeMe



    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for SPINT2 (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
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SPINT2
    DNA2.0 Custom Variant and Variant Library Synthesis for SPINT2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    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

  • 5 diseases for SPINT2:    
    About MalaCards
    diarrhea 3, secretory sodium, congenital, syndromic    tufting enteropathy    diarrhea    c1 inhibitor deficiency
    alpha 1-antitrypsin deficiency


    Find genes that share disorders with SPINT2           About GenesLikeMe

    Selected 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)
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    PubMed articles for SPINT2 gene, integrated from 10 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. (J. Biol. Chem. 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. (J. Biol. Chem. 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. (Biochim. Biophys. Acta 1998)
    4. Mutations in SPINT2 cause a syndromic form of congenital sodium diarrhea. (PubMed id 19185281)1, 2 Heinz-Erian P.... Janecke A.R. (Am. J. Hum. Genet. 2009)
    5. Signal peptide prediction based on analysis of experimentally verified cleavage sites. (PubMed id 15340161)1, 2 Zhang Z. and Henzel W.J. (Protein Sci. 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. (Genome Res. 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. (Clin. Cancer Res. 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. (Ann. Oncol. 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. (Biol. Chem. 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. (Int. J. Oncol. 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 10653 HGNC: 11247 AceView: SPINT2andC19orf33 Ensembl:ENSG00000167642 euGenes: HUgn10653
    ECgene: SPINT2 H-InvDB: SPINT2

    (According to HUGE)
    About This Section

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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    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

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    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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    Advanced Cell Diagnostics, Animal models from genOway)
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