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

SPINT4 Gene

protein-coding   GIFtS: 34
GCID: GC20P044350

Serine Peptidase Inhibitor, Kunitz Type 4

(Previous names: chromosome 20 open reading frame 137, serine peptidase inhibitor,...)
(Previous symbol: C20orf137)
  See related disease
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 41 2     dJ601O1.12
C20orf1371 2 3     Kunitz-Type Protease Inhibitor 42
Chromosome 20 Open Reading Frame 1371     Serine Protease Inhibitor, Kunitz Type 12
SPINT32     Serine Protease Inhibitor, Kunitz Type 42

External Ids:    HGNC: 161301   Entrez Gene: 3912532   Ensembl: ENSG000001496517   UniProtKB: Q6UDR63   

Export aliases for SPINT4 gene to outside databases

Previous GC identifers: GC00U901027 GC20P043785 GC20P041092


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

GeneCards Summary for SPINT4 Gene: 
SPINT4 (serine peptidase inhibitor, Kunitz type 4) is a protein-coding gene. Diseases associated with SPINT4 include epididymitis. GO annotations related to this gene include serine-type endopeptidase inhibitor activity.


(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_000020.10  NC_018931.2  NT_011362.10  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SPINT4 gene promoter:
         AhR   GATA-3   Brachyury   Pax-6   Arnt   GATA-1   GATA-2   Gfi-1   STAT3   Pax-4a   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for SPINT4

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SPINT4


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

Entrez Gene cytogenetic band: 20q13.12   Ensembl cytogenetic band:  20q13.12   HGNC cytogenetic band: 20q13.12

SPINT4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SPINT4 gene location

GeneLoc information about chromosome 20         GeneLoc Exon Structure

GeneLoc location for GC20P044350:  view genomic region     (about GC identifiers)

Start:
44,350,988 bp from pter      End:
44,354,469 bp from pter
Size:
3,482 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: SPIT4_HUMAN, Q6UDR6 (See protein sequence)
Recommended Name: Kunitz-type protease inhibitor 4 precursor  
Size: 99 amino acids; 11421 Da
Subcellular location: Secreted (Probable)
Secondary accessions: Q9BQN3

Explore the universe of human proteins at neXtProt for SPINT4: NX_Q6UDR6

Explore proteomics data for SPINT4 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q6UDR6

  • SPINT4 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SPINT4 Protein Expression
    REFSEQ proteins: NP_848550.1  
    ENSEMBL proteins: 
     ENSP00000279058  

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    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region IEA--

    SPINT4 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
    1 InterPro protein domain:
     IPR002223 Prot_inh_Kunz-m

    Graphical View of Domain Structure for InterPro Entry Q6UDR6

    ProtoNet protein and cluster: Q6UDR6

    UniProtKB/Swiss-Prot: SPIT4_HUMAN, Q6UDR6
    Similarity: Contains 1 BPTI/Kunitz inhibitor domain


    SPINT4 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

         Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004867serine-type endopeptidase inhibitor activity IEA--
         
    SPINT4 for ontologies           About GeneDecksing


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    (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



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for SPINT4

    (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
    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for SPINT4 (SPIT4)

    Search CenterWatch for drugs/clinical trials and news about SPINT4 / SPIT4

    (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,
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    About This Section

    REFSEQ mRNAs for SPINT4 gene: 
    NM_178455.1  

    Unigene Cluster for SPINT4:

    Serine peptidase inhibitor, Kunitz type 4
    Hs.677891  [show with all ESTs]
    Unigene Representative Sequence: BI827564
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000279058(uc002xpe.1)
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    Additional mRNA sequence: 

    AY372173.1 AY372174.1 

    1 DOTS entry:

    DT.102842120 

    4 AceView cDNA sequences:

    AY372173 AY372174 AW303354 BI827564 

    GeneLoc Exon Structure


    (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

    SPINT4 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AATTTTGGAA
    SPINT4 Expression
    About this image


    See SPINT4 Protein Expression from SPIRE MOPED and PaxDB
    SOURCE GeneReport for Unigene cluster: Hs.677891
        SABiosciences Custom PCR Arrays for SPINT4
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SPINT4

    (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 human and mouse.

    Orthologs for SPINT4 gene from 1/5 species (see all 5)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Spint41 , 5 serine protease inhibitor, Kunitz type 41, 5 70.75(n)1
    58.16(a)1
      2 (85.26 cM)5
    782391  NM_030058.21  NP_084334.11 
     1646985015 


    ENSEMBL Gene Tree for SPINT4 (if available)
    TreeFam Gene Tree for SPINT4 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SPINT4 gene
    6 SIMAP similar genes for SPINT4 using alignment to 1 protein entry:     SPIT4_HUMAN:
    AMBP    COL28A1    COL6A3    TFPI2    TFPI    WFDC8

    SPINT4 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

    10/162 SNPs in SPINT4 are shown (see all 162)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 20 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1861964981,2
    --44349074(+) CCCATC/GAATGA 1 -- us2k10--------
    rs130447351,2
    C,F--44349076(+) catcaG/Atgata 1 -- us2k1 tfbs32Minor allele frequency- A:0.50NA 4
    rs60324681,2
    C,F--44349105(+) tgataC/Ttgaaa 1 -- us2k1 tfbs33Minor allele frequency- T:0.50NA WA 6
    rs1452827881,2
    C--44349109(+) CTGAA-/ATATATA 1 -- us2k10--------
    rs574509851,2
    C--44349110(+) ATATA-/AT/TA 
            
    CACAC
    1 -- us2k10--------
    rs776171161,2
    C,F--44349194(+) TGGATG/AGAGCT 1 -- us2k12Minor allele frequency- A:0.08WA 120
    rs1122002241,2
    F--44349201(+) AGCTCG/AAAGCA 1 -- us2k11Minor allele frequency- A:0.50CSA 2
    rs60324691,2
    C,F,A--44349417(+) TGTGCG/AGCAAA 1 -- us2k18Minor allele frequency- A:0.41NA WA CSA EA 367
    rs759711101,2
    C,F--44349449(+) ATGTAT/AGTAAC 1 -- us2k12Minor allele frequency- A:0.10CSA WA 120
    rs1436431241,2
    --44349458(+) ACAAAA/CCTGCA 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for SPINT4 (44350988 - 44354469 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 8 variations for SPINT4:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2678145CNV Deletion23128226
    esv33602CNV Loss17666407
    nsv458986CNV Loss19166990
    esv2751915CNV Loss17911159
    esv24579CNV Loss19812545
    esv2751916CNV Loss17911159
    esv23805CNV Gain19812545
    nsv514940CNV Complex21397061

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    2 diseases for SPINT4:    About MalaCards
    epididymitis    


    SPINT4 for disorders           About GeneDecksing


    Export disorders for SPINT4 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 SPINT4 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with SPINT4)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Three genes expressing Kunitz domains in the epididym is are related to genes of WFDC-type protease inhibitors and semen coagulum pro teins in spite of lacking similarity between their protein products. (PubMed id 21988899)1, 3 Clauss A....Lundwall A.8. (2011)
    2. Differing evolutionary histories of WFDC8 (short-term balancing) in Europeans and SPINT4 (incomplete selective sweep) in Africans. (PubMed id 21536719)1 Ferreira Z....Seixas S. (2011)
    3. The DNA sequence and comparative analysis of human chromosome 20. (PubMed id 11780052)2 Deloukas P....Rogers J. (2001)
    4. Hepatitis C virus core protein interacts with 14-3-3 protein and activates the kinase Raf-1. (PubMed id )2 Aoki H.... Hino O. (2000)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    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)
    About This Section
    Entrez Gene: 391253 HGNC: 16130 AceView: C20orf137 Ensembl:ENSG00000149651 euGenes: HUgn391253
    ECgene: SPINT4 H-InvDB: SPINT4

    (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 SPINT4 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 SPINT4 gene:
    Search GeneIP for patents involving SPINT4

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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    About This Section

     
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     Search for Antibodies for SPINT4 at Abcam
     See all of Abcam's Antibodies, Kits and Proteins for SPINT4
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     Browse SwitchGear 3'UTR luciferase reporter plasmids for SPINT4
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     Search ThermoFisher Antibodies for SPINT4
     Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat SPINT4
     inGenious Targeting Laboratory - Custom generated mouse model solutions for SPINT4
     inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for SPINT4
    Customized:
     lentivirus for stable overexpression of SPINT4
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     Search LSBio for Antibodies for SPINT4
    Customized transgenic rodents for:
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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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    (GIFtS: 73)
    transforming growth factor, beta 1
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