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SPINK14 Gene

protein-coding   GIFtS: 36
GCID: GC05P147549

Serine Peptidase Inhibitor, Kazal Type 14 (Putative)

  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)
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Aliases
Serine Peptidase Inhibitor, Kazal Type 14 (Putative)1 2
SPINK5L22 3
Kazal Type Serine Protease Inhibitor 5-Like 22
Serine Protease Inhibitor Kazal-Type 142

External Ids:    HGNC: 338251   Entrez Gene: 4081872   Ensembl: ENSG000001968007   UniProtKB: Q6IE383   

Export aliases for SPINK14 gene to outside databases

Previous GC identifer: GC05P142696


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for SPINK14 Gene:
SPINK14 (serine peptidase inhibitor, Kazal type 14 (putative)) is a protein-coding gene. Diseases associated with SPINK14 include endotheliitis. GO annotations related to this gene include serine-type endopeptidase inhibitor activity.

UniProtKB/Swiss-Prot: ISK14_HUMAN, Q6IE38
Function: May be a serine protease inhibitor (By similarity)




(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:
NC_000005.10  NT_029289.12  NC_018916.2  
Regulatory elements:
   Search for regulatory transcription factor binding sites for SPINK14
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSPINK14 promoter sequence
   Search Chromatin IP Primers for SPINK14

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SPINK14


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

Entrez Gene cytogenetic band: 5q32   Ensembl cytogenetic band:  5q32   HGNC cytogenetic band: 5q32

SPINK14 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SPINK14 gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05P147549:  view genomic region     (about GC identifiers)

Start:
147,549,296 bp from pter      End:
147,554,961 bp from pter
Size:
5,666 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, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: ISK14_HUMAN, Q6IE38 (See protein sequence)
Recommended Name: Serine protease inhibitor Kazal-type 14 precursor  
Size: 97 amino acids; 11057 Da

Explore the universe of human proteins at neXtProt for SPINK14: NX_Q6IE38

Post-translational modifications: 

  • Glycosylation2 at Asn51
  • REFSEQ proteins: NP_001001325.1  
    ENSEMBL proteins: 
     ENSP00000457038   ENSP00000349459  

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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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    HGNC Gene Families:
    SPINK: Serine peptidase inhibitors, Kazal type

    1 InterPro protein domain:
     IPR002350 Kazal_dom

    Graphical View of Domain Structure for InterPro Entry Q6IE38

    ProtoNet protein and cluster: Q6IE38

    UniProtKB/Swiss-Prot: ISK14_HUMAN, Q6IE38
    Similarity: Contains 1 Kazal-like domain


    SPINK14 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,
    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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ISK14_HUMAN, Q6IE38
    Function: May be a serine protease inhibitor (By similarity)

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004867serine-type endopeptidase inhibitor activity IEA--
    GO:0005515protein binding ----
         
    SPINK14 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for SPINK14:
     Synthetic lethal with c-Myc af 

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    (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
    ISK14_HUMAN, Q6IE38: Secreted (Potential)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular3

    Gene Ontology (GO): 1 cellular component term:    About this table

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

    SPINK14 for ontologies           About GeneDecksing


    (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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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for SPINK14
    Interactions:

        Search GeneGlobe Interaction Network for SPINK14

    (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 SPINK14 (ISK14)



    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for SPINK14 gene: 
    NM_001001325.1  

    Unigene Cluster for SPINK14:

    Serine peptidase inhibitor, Kazal type 14 (putative)
    Hs.553815
    Unigene Representative Sequence: JF509943
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000562793 ENST00000356972(uc003loz.1)
    miRNA
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    Additional mRNA sequence: 

    JF509943.1 JF509944.1 

    2 AceView cDNA sequences:

    NM_001001325 BN000355 

    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™, 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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    See probesets specificity/sensitivity at GeneAnnot
    CGAP TAG: --

    SPINK14 Protein expression data from MOPED1, PaxDb2 and MaxQB3 --

    SOURCE GeneReport for Unigene cluster: Hs.553815
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    (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 human and mouse.

    Orthologs for SPINK14 gene from Selected species (see all 4)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Spink141 , 5 serine peptidase inhibitor, Kazal type 141, 5 75.35(n)1
    66.67(a)1
      18 (23.74 cM)5
    4331781  NM_001039218.21  NP_001034307.21 
     440286945 


    ENSEMBL Gene Tree for SPINK14 (if available)
    TreeFam Gene Tree for SPINK14 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SPINK14 gene
    7 SIMAP similar genes for SPINK14 using alignment to 2 protein entries:     ISK14_HUMAN (see all proteins):
    SPINK7    SPINK5    SPINK1    SPINK9    SPINK4    HEL-S-48e
    SPINK13

    SPINK14 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), 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 SPINK14 (see all 207)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs746884281,2
    C,F--147547302(+) TATATA/GTATTT 1 -- us2k13Minor allele frequency- G:0.08WA NA EA 358
    rs1844445661,2
    --147547322(+) GAATAC/TAATTT 1 -- us2k10--------
    rs1384833811,2
    --147547357(+) GAGTTG/TTAAGA 1 -- us2k10--------
    rs93250791,2
    C,F,A--147547366(+) GATTTT/CACACC 1 -- us2k18Minor allele frequency- C:0.44NA WA CSA EA 368
    rs93250801,2
    C,F,A--147547372(+) ACACCT/CTTTTA 1 -- us2k1 tfbs38Minor allele frequency- C:0.48NA WA CSA EA 368
    rs1424890291,2
    --147547452(+) ATTTGG/TCCATT 1 -- us2k10--------
    rs1889426191,2
    --147547459(+) CATTTC/TTATTT 1 -- us2k10--------
    rs1922569361,2
    --147547483(+) TGCTCC/TGCCTC 1 -- us2k10--------
    rs1839923021,2
    --147547484(+) GCTCCA/GCCTCC 1 -- us2k10--------
    rs1433385581,2
    --147547730(+) AACCTC/TCTGTA 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for SPINK14 (147549296 - 147554961 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for SPINK14 (see all 13):    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv820675CNV Deletion20802225
    esv2505853CNV Deletion19546169
    esv2602125CNV Loss19546169
    nsv883015CNV Loss21882294
    nsv823295CNV Loss20364138
    nsv823293CNV Loss20364138
    nsv819370CNV Gain19587683
    nsv830515CNV Gain+Loss17160897
    nsv823294CNV Gain+Loss20364138
    esv21549CNV Gain+Loss19812545

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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.)
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    1 disease for SPINK14:    
    About MalaCards
    endotheliitis


    SPINK14 for disorders           About GeneDecksing

    Genetic Association Database (GAD): SPINK14

    Export disorders for SPINK14 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 SPINK14 gene integrated from 10 sources:
    (articles sorted by number of sources associating them with SPINK14)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A genomic analysis of rat proteases and protease inhibitors. (PubMed id 15060002)1, 2 Puente X.S. and Lopez-Otin C. (Genome Res. 2004)
    2. Genome-wide association of echocardiographic dimensions, brachial artery endothelial function and treadmill exercise responses in the Framingham Heart Study. (PubMed id 17903301)4 Vasan R.S....Benjamin E.J. (BMC Med. Genet. 2007)
    3. The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)2 Mungall A.J.... Beck S. (Nature 2003)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 408187 HGNC: 33825 AceView: SPINK5L2 Ensembl:ENSG00000196800 euGenes: HUgn408187
    ECgene: SPINK14 H-InvDB: SPINK14

    (According to HUGE)
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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)
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    NameDescription
    PharmGKB entry for SPINK14 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for SPINK14 gene:
    Search GeneIP for patents involving SPINK14

    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, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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