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SERPINB6 Gene

protein-coding   GIFtS: 63
GCID: GC06M002948

Serpin Peptidase Inhibitor, Clade B (Ovalbumin), Member...

(Previous names: serine (or cysteine) proteinase inhibitor, clade B (ovalbumin),...)
(Previous symbols: PI6, DFNB91)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Serpin Peptidase Inhibitor, Clade B (Ovalbumin), Member 61 2     SPI32 5
PI61 2 3 5     Deafness, Autosomal Recessive 911
Cytoplasmic Antiproteinase1 2 3     MSTP0572
DFNB911 2 5     Protease Inhibitor 6 (Placental Thrombin Inhibitor)2
PTI2 3 5     Serpin B62
Serine (Or Cysteine) Proteinase Inhibitor, Clade B (Ovalbumin), Member 61 2     Peptidase Inhibitor 63
CAP2 3     Placental Thrombin Inhibitor3
PI-62 3     

External Ids:    HGNC: 89501   Entrez Gene: 52692   Ensembl: ENSG000001245707   OMIM: 1733215   UniProtKB: P352373   

Export aliases for SERPINB6 gene to outside databases

Previous GC identifers: GC06M002933 GC06M002893 GC06M002821


(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 SERPINB6 Gene:
The protein encoded by this gene is a member of the serpin (serine proteinase inhibitor) superfamily, and
ovalbumin(ov)-serpin subfamily. It was originally discovered as a placental thrombin inhibitor. The mouse homolog
was found to be expressed in the hair cells of the inner ear. Mutations in this gene are associated with
nonsyndromic progressive hearing loss, suggesting that this serpin plays an important role in the inner ear in
the protection against leakage of lysosomal content during stress, and that loss of this protection results in
cell death and sensorineural hearing loss. Alternatively spliced transcript variants have been found for this
gene. (provided by RefSeq, Sep 2010)

GeneCards Summary for SERPINB6 Gene:
SERPINB6 (serpin peptidase inhibitor, clade B (ovalbumin), member 6) is a protein-coding gene. Diseases associated with SERPINB6 include deafness, autosomal recessive 91, and sensorineural hearing loss. GO annotations related to this gene include serine-type endopeptidase inhibitor activity and protease binding. An important paralog of this gene is SERPINB7.

UniProtKB/Swiss-Prot: SPB6_HUMAN, P35237
Function: May be involved in the regulation of serine proteinases present in the brain or extravasated from the
blood (By similarity). Inhibitor of cathepsin G, kallikrein-8 and thrombin. May play an important role in the
inner ear in the protection against leakage of lysosomal content during stress and loss of this protection
results in cell death and sensorineural hearing loss

Gene Wiki entry for SERPINB6 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:
NC_000006.12  NT_007592.16  NC_018917.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the SERPINB6 gene promoter:
         E2F-3a   Sp1   AP-1   ATF-2   E2F-2   E2F   E2F-1   c-Jun   ATF   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSERPINB6 promoter sequence
   Search Chromatin IP Primers for SERPINB6

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SERPINB6


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

Entrez Gene cytogenetic band: 6p25   Ensembl cytogenetic band:  6p25.2   HGNC cytogenetic band: 6p25.2

SERPINB6 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SERPINB6 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06M002948:  view genomic region     (about GC identifiers)

Start:
2,948,393 bp from pter      End:
2,972,399 bp from pter
Size:
24,007 bases      Orientation:
minus 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, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: SPB6_HUMAN, P35237 (See protein sequence)
Recommended Name: Serpin B6  
Size: 376 amino acids; 42622 Da
Subunit: Forms a complex with the monomeric form of beta-tryptase
Sequence caution: Sequence=BAD92800.1; Type=Erroneous initiation; Sequence=CAD98106.1; Type=Erroneous initiation;
Secondary accessions: B2RBA8 Q59F97 Q5TD06 Q7Z2Y7 Q96J44 Q9UDI7

Explore the universe of human proteins at neXtProt for SERPINB6: NX_P35237

Explore proteomics data for SERPINB6 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys252, Lys314
  • Modification sites at PhosphoSitePlus

  • See SERPINB6 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (6 alternative transcripts): 
    NP_001182220.2  NP_001258751.1  NP_001258752.1  NP_001258753.1  NP_001258754.1  NP_004559.4  

    ENSEMBL proteins: 
     ENSP00000369891   ENSP00000369896   ENSP00000369901   ENSP00000369912   ENSP00000369919  
     ENSP00000338358  
    Reactome Protein details: P35237

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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:
    SERPIN: Serine (or cysteine) peptidase inhibitors

    3 InterPro protein domains:
     IPR023795 Serpin_CS
     IPR000215 Serpin_fam
     IPR023796 Serpin_dom

    Graphical View of Domain Structure for InterPro Entry P35237

    ProtoNet protein and cluster: P35237

    1 Blocks protein domain: IPB000215 Serpin

    UniProtKB/Swiss-Prot: SPB6_HUMAN, P35237
    Similarity: Belongs to the serpin family. Ov-serpin subfamily


    SERPINB6 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: SPB6_HUMAN, P35237
    Function: May be involved in the regulation of serine proteinases present in the brain or extravasated from the
    blood (By similarity). Inhibitor of cathepsin G, kallikrein-8 and thrombin. May play an important role in the
    inner ear in the protection against leakage of lysosomal content during stress and loss of this protection
    results in cell death and sensorineural hearing loss

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002020protease binding IPI17761692
    GO:0004867serine-type endopeptidase inhibitor activity IDA17761692
         
    SERPINB6 for ontologies           About GeneDecksing


    Phenotypes:
         2 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Serpinb6a):
     no phenotypic analysis  normal 

    SERPINB6 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SERPINB6
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    miRNA
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    miRTarBase miRNAs that target SERPINB6:
    hsa-mir-124-3p (MIRT002646)

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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
    SPB6_HUMAN, P35237: Cytoplasm
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton4
    cytosol4
    extracellular2
    nucleus2
    plasma membrane2
    chloroplast1
    endoplasmic reticulum1
    mitochondrion1
    peroxisome1

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005615extracellular space IEA--
    GO:0005737cytoplasm IDA17761692
    GO:0005813centrosome ----
    GO:0005829cytosol TAS8415716
    GO:0043234protein complex IDA17761692

    SERPINB6 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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    SuperPaths for SERPINB6 About    
    See pathways by source

    SuperPathContained pathways About
    1Hemostasis
    Hemostasis0.43
    2Dissolution of Fibrin Clot
    Dissolution of Fibrin Clot
    3Amoebiasis
    Amoebiasis

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    3 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for SERPINB6
        EphB-EphrinB Signaling
    Ephrin-Eph Signaling
    Insulin Receptor Pathway


    1 Reactome Pathway for SERPINB6
        Dissolution of Fibrin Clot


    1 Kegg Pathway  (Kegg details for SERPINB6):
        Amoebiasis


    SERPINB6 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for SERPINB6
    Interactions:

        GeneGlobe Interaction Network for SERPINB6

    STRING Interaction Network Preview (showing 5 interactants - click image to see 10)

    Selected Interacting proteins for SERPINB6 (P352373 ENSP000003383584) via UniProtKB, MINT, STRING, and/or I2D (see all 16)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    F2P007343, ENSP000003085414I2D: score=2 STRING: ENSP00000308541
    PROCP040703, ENSP000002340714I2D: score=1 STRING: ENSP00000234071
    KLK2P201513, ENSP000003135814I2D: score=2 STRING: ENSP00000313581
    F10P007423, ENSP000003647094I2D: score=1 STRING: ENSP00000364709
    PLAUP007493, ENSP000003618504I2D: score=2 STRING: ENSP00000361850
    About this table

    Gene Ontology (GO): 2 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0010951negative regulation of endopeptidase activity IDA17761692
    GO:0030162regulation of proteolysis IBA--

    SERPINB6 for ontologies           About GeneDecksing



    (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 SERPINB6 (SPB6)

    1 DrugBank Compound for SERPINB6    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Drotrecogin alfaAnticoagulant protein C (see all 4)60202-16-6target--17016423 17139284

    2 Novoseek inferred chemical compound relationships for SERPINB6 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    serine 68.5 21 8136380 (2), 7548163 (2), 9851866 (2), 8636153 (1) (see all 13)
    sodium dodecylsulfate 33.8 5 10068683 (2), 14670919 (1)



    SERPINB6 for compounds           About GeneDecksing



    (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, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for SERPINB6 gene (6 alternative transcripts): 
    NM_001195291.2  NM_001271822.1  NM_001271823.1  NM_001271824.1  NM_001271825.1  NM_004568.5  

    Unigene Cluster for SERPINB6:

    Serpin peptidase inhibitor, clade B (ovalbumin), member 6
    Hs.519523  [show with all ESTs]
    Unigene Representative Sequence: AK128637
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000380520(uc003muk.3) ENST00000380524(uc003mul.3) ENST00000380529
    ENST00000380539(uc003mui.3 uc003muj.3) ENST00000380546(uc003mum.3)
    ENST00000335686(uc003mun.3 uc003muo.3)
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      QuantiFast Probe-based Assays in human, mouse, rat SERPINB6

    Additional mRNA sequence: 

    AB209563.1 AK027149.1 AK057138.1 AK094983.1 AK098566.1 AK122895.1 AK122961.1 AK128637.1 
    AK314578.1 BC001394.2 BC098564.1 Z22658.1 

    Selected DOTS entries (see all 50):

    DT.100878129  DT.87012780  DT.91779477  DT.100878119  DT.91855694  DT.91689649  DT.100878117  DT.91963110 
    DT.91779450  DT.121369454  DT.100878128  DT.121369414  DT.121369402  DT.121369423  DT.40294818  DT.100878124 
    DT.95178151  DT.99964597  DT.95258415  DT.95250440  DT.95258382  DT.100878127  DT.87014783  DT.91779476 

    Selected AceView cDNA sequences (see all 614):

    BM709003 AI199872 AI953245 BE856437 AI971072 AI635406 N86027 AI916778 
    BG197832 AI683690 BQ072385 CD675578 AW196369 BQ084579 BI438882 AI830533 
    BM765913 BM874483 BI259189 BM745545 BG183359 AI133381 AI017645 AI202728 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for SERPINB6 (see all 18)    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3a · 3b · 3c ^ 4a · 4b ^ 5a · 5b · 5c ^ 6 ^ 7a · 7b ^ 8a · 8b ^ 9 ^ 10a · 10b ^ 11a · 11b · 11c ^ 12 ^
    SP1:                                -     -     -     -     -     -     -                 -     -     -     -     -     -                 -           -         
    SP2:                                                                                                        -     -     -                 -           -         
    SP3:                                -     -     -     -     -     -     -     -     -     -     -     -     -     -     -                 -           -         
    SP4:                                      -     -     -     -     -     -     -     -     -     -     -     -     -     -                 -           -         
    SP5:                                                              -     -     -     -     -     -     -     -     -     -                 -           -         

    ExUns: 13a · 13b · 13c · 13d ^ 14a · 14b ^ 15a · 15b · 15c · 15d
    SP1:  -                                                         
    SP2:  -                                                         
    SP3:  -                                                         
    SP4:  -                                                         
    SP5:  -                                                         


    ECgene alternative splicing isoforms for SERPINB6

    (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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    SERPINB6 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ATGATGCGGT
    SERPINB6 Expression
    About this image


    SERPINB6 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 19) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Ovarian Mesenchymal Stroma Cells Ovary Interstitium
             Oviduct
     
     Testis (Reproductive System)    fully expand to see all 2 entries
             Pre-Sertoli Cells Testis Cord
     
     Pancreas (Endocrine System)
             Islets of Langerhans
     
     Neural Ectoderm (Nervous System)
             Neural ectoderm cells
    SERPINB6 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SERPINB6 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.519523

    UniProtKB/Swiss-Prot: SPB6_HUMAN, P35237
    Tissue specificity: Expressed in keratinocytes (at protein level). Highest levels in skeletal muscle. Also found
    in placenta, cardiac muscle, lung, liver, kidney and pancreas. Expressed in the inner ear hair cells. Expressed
    abundantly by normal mast cells in different tissues and by mast cells in mastocytoma lesions

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    In Situ
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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 chordates.

    Orthologs for SERPINB6 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Serpinb6a1 , 5 serine (or cysteine) peptidase inhibitor, clade B, more1, 5 79.43(n)1
    76.35(a)1
      13 (14.00 cM)5
    207191  NM_001164117.11  NP_001157589.11 
     339179185 
    chicken
    (Gallus gallus)
    Aves SERPINB61 serpin peptidase inhibitor, clade B (ovalbumin), member more 67.2(n)
    60.86(a)
      420895  NM_001006377.1  NP_001006377.1 
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia serpinb61 serpin peptidase inhibitor, clade B (ovalbumin), member more 62.91(n)
    61.66(a)
      493311  NM_001007931.1  NP_001007932.1 
    zebrafish
    (Danio rerio)
    Actinopterygii BC064292.12   -- 73.37(n)   335229  BC064292.1 


    ENSEMBL Gene Tree for SERPINB6 (if available)
    TreeFam Gene Tree for SERPINB6 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SERPINB6 gene
    SERPINB72  SERPINB12  SERPINI12  SERPINB52  SERPINB122  SERPINI22  SERPINB22  SERPINB102  
    SERPINB32  SERPINB42  SERPINE22  SERPINC12  SERPINB92  SERPINE12  SERPINB112  SERPINE32  
    SERPINB132  SERPINB82  
    Selected SIMAP similar genes for SERPINB6 using alignment to 1 protein entry:     SPB6_HUMAN(see all similar genes):
    SERPINB8    DKFZp686O07189    SERPINB9    HMSD    PLANH2    SCCA1
    SERPINB1    SERPINB11    SERPINB3    SCCA2    SERPINB10    SERPINB12
    SERPINB13    SERPINA5    SERPINB2    SERPINB5    SERPINB4    DKFZp686D06190

    SERPINB6 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 SERPINB6 (see all 661)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs3715656531,2
    C--2824829(+) AAAAA-/AT/T  
            
    AAAAA
    6 -- int10--------
    rs1871421241,2
    --2847578(+) TTTTTA/TTAAAA 3 -- us2k10--------
    rs2013207871,2
    --2847578(+) TTTTT-/ATAAAA 3 -- us2k10--------
    rs93787521,2
    C,F,A,H--2847579(+) TTTTTT/AAAAAA 3 -- us2k1 trp32Minor allele frequency- A:0.14NS NA 122
    rs1998236241,2
    C--2847579(+) TTTTT-/AAAAAA 3 -- us2k10--------
    rs1917780531,2
    --2879604(+) ACCTGC/TTCCCC 6 -- ds5001 int10--------
    rs1444088111,2
    --2879613(+) CCCCAC/TCTCCA 6 -- ds5001 int10--------
    rs1828586411,2
    --2879641(+) CTTGCA/GGTAGT 6 -- ds5001 int10--------
    rs1878927651,2
    --2879673(+) CCTCCC/GTGTAG 6 -- ds5001 int10--------
    rs733478241,2
    C,F--2879772(+) GTGCCA/GAGGAA 6 -- ds5001 int12Minor allele frequency- G:0.04WA 120

    HapMap Linkage Disequilibrium report for SERPINB6 (2948393 - 2972399 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for SERPINB6:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv437477CNV Loss16327808
    nsv883396CNV Loss21882294
    dgv6429n71CNV Loss21882294
    nsv883398CNV Loss21882294
    nsv830575CNV Loss17160897

    Human Gene Mutation Database (HGMD): SERPINB6
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SERPINB6
    DNA2.0 Custom Variant and Variant Library Synthesis for SERPINB6

    (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: 173321   
    OMIM disorders: 613453  
    UniProtKB/Swiss-Prot: SPB6_HUMAN, P35237
  • Deafness, autosomal recessive, 91 (DFNB91) [MIM:613453]: A form of non-syndromic deafness characterized
    by progressive and age-dependent sensorineural hearing loss. Vestibular function is normal. Note=The disease is
    caused by mutations affecting the gene represented in this entry

  • 15 diseases for SERPINB6:    
    About MalaCards
    deafness, autosomal recessive 91    sensorineural hearing loss    kimura disease    borna disease
    deafness, autosomal recessive 76    cowpox    prostatitis    tonsillitis
    prostate cancer    colorectal cancer    endotheliitis    multiple myeloma
    thyroiditis    myeloma    cerebritis


    SERPINB6 for disorders           About GeneDecksing

    3 Novoseek inferred disease relationships for SERPINB6 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    prostate cancer 4.66 5 11745444 (3), 10463585 (1)
    necrosis 0 1 8576159 (1)
    tumors 0 1 8576159 (1)


    Export disorders for SERPINB6 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 SERPINB6 gene, integrated from 10 sources (see all 52):
    (articles sorted by number of sources associating them with SERPINB6)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning and molecular characterization of a human intracellular serine proteinase inhibitor. (PubMed id 8415716)1, 2, 3, 9 Coughlin P.... Bird P. (Proc. Natl. Acad. Sci. U.S.A. 1993)
    2. A truncating mutation in SERPINB6 is associated with autosomal- recessive nonsyndromic sensorineural hearing loss. (PubMed id 20451170)1, 2, 3 Sirmaci A.... Tekin M. (Am. J. Hum. Genet. 2010)
    3. Intracellular serpin SERPINB6 (PI6) is abundantly expressed by human mast cells and forms complexes with beta-tryptase monomers. (PubMed id 14670919)1, 2, 9 Strik M.C.... Kummer J.A. (Blood 2004)
    4. SerpinB6 is an inhibitor of kallikrein-8 in keratinocytes. (PubMed id 17761692)1, 2, 9 Scott F.L.... Bird P.I. (J. Biochem. 2007)
    5. A serpin gene cluster on human chromosome 6p25 contains PI6, PI9 and ELANH2 which have a common structure almost identical to the 18q21 ovalbumin serpin genes. (PubMed id 9858835)1, 3, 9 Sun J....Bird P.I. (Cytogenet. Cell Genet. 1998)
    6. Complementary DNA cloning and kinetic characterization of a novel intracellular serine proteinase inhibitor: mechanism of action with trypsin and factor Xa as model proteinases. (PubMed id 8136380)1, 2, 9 Morgenstern K.A.... Kisiel W. (Biochemistry 1994)
    7. Update of the human and mouse SERPIN gene superfamily. (PubMed id 24172014)1, 3 Heit C....Vasiliou V. (Hum. Genomics 2013)
    8. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    9. 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)
    10. Identification and purification of a novel serine proteinase inhibitor. (PubMed id 8486644)1, 2 Coughlin P.B.... Salem H.H. (J. Biol. Chem. 1993)

    (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: 5269 HGNC: 8950 AceView: SERPINB6 Ensembl:ENSG00000124570 euGenes: HUgn5269
    ECgene: SERPINB6 Kegg: 5269 H-InvDB: SERPINB6

    (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 SERPINB6 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 SERPINB6 gene:
    Search GeneIP for patents involving SERPINB6

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



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