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

SPINT2 Gene

protein-coding   GIFtS: 61
GCID: GC19P038734

serine peptidase inhibitor, Kunitz type, 2

(Previous names: serine protease inhibitor, Kunitz type, 2 )
 Explore 45 diseases affiliated with
SPINT2 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for SPINT2    

Aliases
for SPINT2 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Serine Peptidase Inhibitor, Kunitz Type, 21 2     Placental Bikunin2 3
HAI-21 2 3     DIAR32 5
HAI22 3 5     PB2
Kop1 2     Kunitz-Type Protease Inhibitor 22
Serine Protease Inhibitor, Kunitz Type, 21 2     KOP3
Hepatocyte Growth Factor Activator Inhibitor Type 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


Summaries
for SPINT2 gene

(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:
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)

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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000019.9  NC_018930.1  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 plasmid: SPINT2 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

Proteins
for SPINT2 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_O43291

    • SPINT2 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    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: 
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    Novus Biologicals SPINT2 Protein
    Novus Biologicals SPINT2 Lysates
    Sino Biological Recombinant Protein for SPINT2
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for SPINT2

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS9346890
    GO:0005625soluble fraction ----
    GO:0005737cytoplasm IDA11606055
    GO:0016021integral to membrane IEA--


    SPINT2 for ontologies           About GeneDecksing



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    Protein Domains /
    Families
    for SPINT2 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    SPINT2 for domains           About GeneDecksing

    2 InterPro domains/families:
     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 family: 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


    Function
    for SPINT2 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: 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

    miRNA
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    hsa-miR-4254 hsa-miR-493* hsa-miR-138-2*
    SwitchGear 3'UTR luciferase reporter plasmid: SPINT2 3' UTR sequence
    Inhib. RNA
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    Gene Editing
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    Clone
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    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for SPINT2 (see all 6)
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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

    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


    1 GenomeRNAi human phenotype for SPINT2:
     Decreased viability 

    Animal Models:
         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


    Pathways & Interactions
    for SPINT2 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1CFTR-dependent regulation of ion channels in Airway Epithelium (norm and CF)
    		CFTR-dependent regulation of ion channels in Airway Epithelium (norm and CF)1.00

    Pathway sources
    See GeneCards unified pathways
    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



    Drugs & Compounds
    for SPINT2 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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
    2 Novoseek 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 

    Transcripts
    for SPINT2 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    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, 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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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SPINT2
    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 plasmid: SPINT2 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for SPINT2 (see all 7)
    OriGene shRNA RFP: SPINT2
    OriGene siRNA: SPINT2
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SPINT2
    Clone
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    GenScript: all cDNA clones in your preferred vector (see all 2): SPINT2 (NM_021102)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SPINT2 
    Primer
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SPINT2
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SPINT2

    Additional cDNA 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):

    BU956889 AI801645 BM761668 BC001668 BE393953 BQ686698 BM794606 BM843457 
    AI432027 BQ880470 BI827386 BM977432 BU542216 BM790828 BG287159 AI188641 
    CR600601 BI914620 BF823590 CR598970 BQ690778 BC007705 BE908239 BU581486 

    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

    Expression
    for SPINT2 gene

    (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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GCCTGCAGTC

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    SPINT2 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    10/11 LifeMap In Vivo Development Anatomical Compartments/Cells (see all 11) 
    Tissue Anatomical Compartment CellCategory (developmental path)
    Gut TubeMidgutMidgut Endoderm CellsEndoderm
    LimbZeugopodMesenchymal Condensate CellsBone, Cartilage
    BrainChoroid PlexusBrain
    BrainMedulla OblongataBrain
    EyeCorneaEye
    Gut TubeMidgutGut Tube
    KidneyMetanephrosKidney
    LungTracheaLung
    Neural TubeDiencephalic Roof PlateNeural Tube
    Neural TubeMetencephalonNeural Tube
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 7 LifeMap Cells 
    NameCategory
    PureStem™ progenitor E68 (Embryonic Progenitor Cell)
    PureStem™ epithelial progenitor E164 (Embryonic Progenitor Cell)Intermediate Mesoderm, Kidney
    PureStem™ mesenchymal progenitor E15 (Embryonic Progenitor Cell)Adipose, Bone, Cartilage
    PureStem™ progenitor E69 (Embryonic Progenitor Cell)
    PureStem™ progenitor EN2 (Embryonic Progenitor Cell)
    PureStem™ progenitor SM22 (Embryonic Progenitor Cell)
    PureStem™ progenitor U31 (Embryonic Progenitor Cell)

    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:     
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    Orthologs
    for SPINT2 gene

    (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 animals.

    Orthologs for SPINT2 gene from 4/11 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 --
    AMBP6
    (see all 3)    		 --
    		 42(a)
    37(a)
    (see all 3)    		 possible ortholog
    possible ortholog
    (see all 3)    		 GL344356.1(52895-53065)
    GL344854.1(15078-15248)
    zebrafish
    (Danio rerio)    		 Actinopterygii spint26
    		 serine peptidase inhibitor, Kunitz type, 2
    		 16(a)
    		 possible ortholog
    		 15(19200783-19212158)
    fruit fly
    (Drosophila melanogaster)    		 Insecta CG36046
    		 --
    		 11(a)
    		 possible ortholog
    		 2L(3697242-3697872)


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

    Paralogs
    for SPINT2 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SPINT2 gene
    AMBP2  SPINT32  WFDC82  TFPI2  WFIKKN12  WFIKKN22  TFPI22  EPPIN2  
    EPPIN-WFDC62  
    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



    Genomic Variants
    for SPINT2 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/528 NCBI SNPs in SPINT2 are shown (see all 528)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 19 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1219084031,2
    		Cpathogenic38780855(+) CATCTA/GTGGAG 4 Y C mis11Minor allele frequency- G:0.00EU 1323
    rs1384072181,2
    		--38753217(+) GGTGGA/GCGGAT 2 -- us2k10--------
    rs1133436181,2
    		--38753224(+) GGATCG/CTGAGG 2 -- us2k11Minor allele frequency- C:0.50CSA 2
    rs1911691191,2
    		--38753231(+) GAGGTC/TAGAAG 2 -- us2k10--------
    rs1501415411,2
    		--38753297(+) ATTAGC/TTGGGC 2 -- us2k10--------
    rs1814923451,2
    		--38753320(+) GGTGCC/TTGTAA 2 -- us2k10--------
    rs72495321,2
    		C,--38753385(+) GGTTGC/TAGTGA 2 -- us2k11Minor allele frequency- T:0.50CSA 2
    rs1493352121,2
    		--38753473(+) AGAGGC/GCTATA 2 -- us2k10--------
    rs1861678581,2
    		--38753572(+) TTCAAA/GTGCTG 2 -- us2k10--------
    rs1900487001,2
    		--38753602(+) CATTCA/CGATTC 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for SPINT2 (38734675 - 38783254 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for SPINT2: --
    Human Gene Mutation Database (HGMD): SPINT2

    SABiosciences Cancer Mutation PCR Assays
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    Disorders / Diseases
    for SPINT2 gene

    (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.)
    About This Section
    SPINT2 for disorders           About GeneDecksing

    OMIM gene information: 605124   
    OMIM disorders: 270420  
    UniProtKB/Swiss-Prot: SPIT2_HUMAN, O43291
  • Defects in SPINT2 are the cause of diarrhea type 3 (DIAR3) [MIM:270420]; also known as congenital sodium
    • diarrhea (CSD). DIAR3 is a rare, inherited diarrhea of infancy. A diagnosis of DIAR3 is made on the findings of a
    life-threatening secretory diarrhea, severe metabolic acidosis, and hyponatremia secondary to extraordinarily high
    fecal losses of sodium, with low or normal excretion of urinary sodium, in the absence of infectious, autoimmune, and
    endocrine causes

    20/45 diseases for SPINT2 (see all 45):    About MalaCards
    diarrhea 3, secretory sodium, congenital, syndromic    diarrhea    alpha 1-antitrypsin deficiency    tufting enteropathy
    secretory diarrhea    clear cell renal cell carcinoma    idiopathic pulmonary fibrosis    renal cell carcinoma
    childhood medulloblastoma    pulmonary fibrosis    atopic dermatitis    allergic asthma
    squamous cell carcinoma    medulloblastoma    dermatitis    teratocarcinoma
    gastric cancer    bladder carcinoma    fibrosis    pancreatic cancer

    10/11 Novoseek 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

    Publications
    for SPINT2 gene

    (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 134):
    (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)

    External Searches for SPINT2 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
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    Genome Databases showing SPINT2 gene

    (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

    Other Databases showing SPINT2 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing SPINT2 gene

    (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

    Intellectual Property
    for SPINT2 gene

    (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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    About This Section

     
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     SPINT2 Proteins, Antibodies, CLIAs, and ELISAs
     Cell Line associated with SPINT2: PureStem ES-210, Ecto-ntu Progenitor
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    GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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