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

SERPINB6 Gene

protein-coding   GIFtS: 59
GCID: GC06M002948

serpin peptidase inhibitor, clade B (ovalbumin), member...

(Previous names: serine (or cysteine) proteinase inhibitor, clade B (ovalbumin),...)
(Previous symbols: PI6, DFNB91)
 Explore 12 diseases affiliated with
SERPINB6 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for SERPINB6    

Aliases
for SERPINB6 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Serpin Peptidase Inhibitor, Clade B (Ovalbumin), Member 61 2     SPI32 5
PI61 2 3 5     Deafness, Autosomal Recessive 911
PTI1 2 3 5     MSTP0572
CAP1 2 3     Protease Inhibitor 6 (Placental Thrombin Inhibitor)2
DFNB911 2 5     Serpin B62
Serine (Or Cysteine) Proteinase Inhibitor, Clade B (Ovalbumin), Member 61 2     Peptidase Inhibitor 63
Cytoplasmic Antiproteinase2 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


Summaries
for SERPINB6 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 SERPINB6:
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)

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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000006.11  NC_018917.1  NT_007592.15  
Regulatory elements:
   SABiosciences 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 plasmid: SERPINB6 promoter sequence
   Search SABiosciences Chromatin IP Primers for SERPINB6

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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:
 2,972,090 bp from pter
Size:
 23,698 bases      Orientation:
 minus strand

Proteins
for SERPINB6 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: 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
Subcellular location: Cytoplasm
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P35237

    • SERPINB6 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    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: 
     ENSP00000369869   ENSP00000369891   ENSP00000369896   ENSP00000369901   ENSP00000369912  
     ENSP00000369919   ENSP00000338358  
    Reactome Protein details: P35237
    Human Recombinant Protein Products: 
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    Novus Biologicals SERPINB6 Protein
    Novus Biologicals SERPINB6 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for SERPINB6

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA17761692
    GO:0005813centrosome IDA--
    GO:0005829cytosol TAS8415716
    GO:0043234protein complex IDA17761692


    SERPINB6 for ontologies           About GeneDecksing



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    ThermoFisher Antibody for SERPINB6

    Assay Products for SERPINB6: 
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    Uscn ELISAs and CLIAs for SERPINB6

    Protein Domains /
    Families
    for SERPINB6 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    SERPINB6 for domains           About GeneDecksing

    3 InterPro domains/families:
     IPR023795 Protease_inhib_I4_serpin_CS
     IPR023796 Serpin_dom
     IPR000215 Serpin_fam

    Graphical View of Domain Structure for InterPro Entry P35237

    ProtoNet protein and cluster: P35237

    1 Blocks protein family: IPB000215 Serpin

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


    Function
    for SERPINB6 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: 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

    miRNA
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    Inhib. RNA
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    Gene Editing
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    Clone
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    In Situ Assay
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    Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002020protease binding IPI17761692
    GO:0004867serine-type endopeptidase inhibitor activity IDA17761692


    SERPINB6 for ontologies           About GeneDecksing


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

    SERPINB6 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for SERPINB6 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
    1Amoebiasis
    		Amoebiasis1.00
    2Platelet activation, signaling and aggregation
    		Hemostasis0.43
    3Expression of PAI-1
    		Dissolution of Fibrin Clot0.10

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    2        Reactome Pathways for SERPINB6
        Hemostasis
    Dissolution of Fibrin Clot


    1         Kegg Pathway  (Kegg details for SERPINB6):
        Amoebiasis


    SERPINB6 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for SERPINB6

    STRING Interaction Network Preview (showing 5 interactants - click image to see 9)

    5/15 Interacting proteins for SERPINB6 (P352373 ENSP000003383584) via UniProtKB, MINT, STRING, and/or I2D (see all 15)
    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 (GO ID links to tree view):    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



    Drugs & Compounds
    for SERPINB6 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

    SERPINB6 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for SERPINB6

    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 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)

    Search CenterWatch for drugs/clinical trials and news about SERPINB6 / SPB6 

    Transcripts
    for SERPINB6 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 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
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000380500 ENST00000380520(uc003muk.3) ENST00000380524(uc003mul.3)
    ENST00000380529 ENST00000380539(uc003mui.3 uc003muj.3) ENST00000380546(uc003mum.3)
    ENST00000335686(uc003mun.3 uc003muo.3)

    miRNA
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    Inhib. RNA
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    Clone
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    Primer
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SERPINB6
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    Additional cDNA 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 

    24/50 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 

    24/614 AceView cDNA sequences (see all 614):

    BM745545 BF727104 AA989410 BM825395 AI971072 BM765324 CD675578 N86027 
    BE856437 BM784456 BM705702 BM547337 CF127601 AI659707 AI799980 BU839116 
    AW196369 CB108757 AI093431 CB144451 CA427138 AA527158 AI635406 BX395248 

    GeneLoc Exon Structure

    5/18 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

    Expression
    for SERPINB6 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

    SERPINB6 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: ATGATGCGGT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image
    See SERPINB6 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SERPINB6

    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
    Assay Products:     
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    Orthologs
    for SERPINB6 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 chordates.

    Orthologs for SERPINB6 gene from 3/16 species (see all 16)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    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 
    lizard
    (Anolis carolinensis)    		 Reptilia --
    		 --
    		 55(a)
    		 1 → many
    		 GL343311.1(705019-715600)
    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
    for SERPINB6 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SERPINB6 gene
    SERPINB72  SERPINB12  SERPINI12  SERPINB52  SERPINB122  SERPINI22  SERPINB22  SERPINB102  
    SERPINB32  SERPINB42  SERPINE22  SERPINC12  SERPINB92  SERPINE12  SERPINE32  SERPINB132  
    SERPINB82  
    18/36 SIMAP similar genes for SERPINB6 using alignment to 2 protein entries:     SPB6_HUMAN (see all proteins) (see all similar genes):
    DKFZp686O07189    SERPINB9    SERPINB8    PLANH2    SERPINB2    SCCA1
    SERPINB1    HMSD    SERPINB12    SERPINB3    SERPINB11    SERPINI1
    SCCA2    SERPINB10    SERPINB13    SERPINA5    SERPINB4    DKFZp686D06190

    SERPINB6 for paralogs           About GeneDecksing



    Genomic Variants
    for SERPINB6 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

    10/556 NCBI SNPs in SERPINB6 are shown (see all 556)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 6 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs733478241,2
    		C,--2821386(+) GTGCCA/GAGGAA 2 -- ds50012Minor allele frequency- G:0.04WA 120
    rs31882381,2
    		C--2821755(-) TTCTGC/TGGCCG 4 C syn1 ese33Minor allele frequency- T:0.00MN NA 4730
    rs356178331,2
    		C,F--2822115(+) TTCTCG/ATAAGT 4 /Y syn12Minor allele frequency- A:0.00NA 4628
    rs793991461,2
    		--2822579(+) AGCTGG/TCCACT 2 -- int10--------
    rs1137279911,2
    		C,F,--2822791(+) TCTGCC/TCTGTC 2 -- int13Minor allele frequency- T:0.04CSA WA 122
    rs1117719131,2
    		--2824234(+) AAGACG/ACCGTA 2 -- int11Minor allele frequency- A:0.50CSA 2
    rs595150891,2
    		C,,--2824850(+) AAAAAA/TAAGCA 2 -- int10--------
    rs733478331,2
    		C,F,--2826761(+) GGATAC/TGTGTC 2 -- int13Minor allele frequency- T:0.06WA CSA 122
    rs777347031,2
    		F,--2826810(+) ATCATC/TAATTG 2 -- int11Minor allele frequency- T:0.03EA 120
    rs795886481,2
    		F,--2828664(+) AAACAC/GTAAGT 2 -- int11Minor allele frequency- G:0.03WA 118

    HapMap Linkage Disequilibrium report for SERPINB6 (2948393 - 2972090 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for SERPINB6: --
    Human Gene Mutation Database (HGMD): SERPINB6

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    Disorders / Diseases
    for SERPINB6 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
    SERPINB6 for disorders           About GeneDecksing

    OMIM gene information: 173321   
    OMIM disorders: 613453  
    UniProtKB/Swiss-Prot: SPB6_HUMAN, P35237
  • Defects in SERPINB6 are the cause of deafness autosomal recessive type 91 (DFNB91) [MIM:613453]. It is a form
    • of non-syndromic deafness characterized by progressive and age-dependent sensorineural hearing loss. Vestibular
    function is normal

    12 diseases for SERPINB6:    About MalaCards
    deafness, autosomal recessive 91    sensorineural hearing loss    hearing loss    kimura disease
    borna disease    cowpox    prostate cancer    prostatitis
    prostate carcinoma    colorectal cancer    carcinoma    colorectal cancer 2

    3 Novoseek 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

    Publications
    for SERPINB6 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 SERPINB6 gene, integrated from 9 sources (see all 48):
    (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. (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. (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. (2004)
    4. SerpinB6 is an inhibitor of kallikrein-8 in keratinocytes. (PubMed id 17761692)1, 2, 9 Scott F.L....Bird P.I. (2007)
    5. A serpin gene cluster on human chromosome 6p25 contai ns PI6, PI9 and ELANH2 which have a common structure almost identical to the 18 q21 ovalbumin serpin genes. (PubMed id 9858835)1, 3, 9 Sun J....Bird P.I. (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. (1994)
    7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    8. 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)
    9. Identification and purification of a novel serine proteinase inhibitor. (PubMed id 8486644)1, 2 Coughlin P.B.... Salem H.H. (1993)
    10. Proteinase inhibitor 6 (PI-6) expression in human skin: induction of PI-6 and a PI-6/proteinase complex during keratinocyte differentiation. (PubMed id 9851866)1, 9 Scott F.L....Bird P.I. (1998)

    External Searches for SERPINB6 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
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    Genome Databases showing SERPINB6 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 5269 HGNC: 8950 AceView: SERPINB6 Ensembl:ENSG00000124570 euGenes: HUgn5269
    ECgene: SERPINB6 Kegg: 5269 H-InvDB: SERPINB6

    Other Databases showing SERPINB6 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing SERPINB6 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 SERPINB6 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for SERPINB6 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		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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    About This Section

     
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