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SERPINA6 Gene

protein-coding   GIFtS: 58
GCID: GC14M094770

Serpin Peptidase Inhibitor, Clade A (Alpha-1 Antiproteinase,...

(Previous names: serine (or cysteine) proteinase inhibitor, clade A (alpha-1...)
(Previous symbol: CBG)
  See SERPINA6-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 A (Alpha-1 Antiproteinase,
Antitrypsin), Member 61 2
     transcortin1 2
CBG1 2 3 5     Serpin A62 3
Serine (Or Cysteine) Proteinase Inhibitor, Clade A (Alpha-1
Antiproteinase, Antitrypsin), Member 61 2
     Corticosteroid-Binding Globulin2
Corticosteroid Binding Globulin1 2     Transcortin3

External Ids:    HGNC: 15401   Entrez Gene: 8662   Ensembl: ENSG000001700997   OMIM: 1225005   UniProtKB: P081853   

Export aliases for SERPINA6 gene to outside databases

Previous GC identifers: GC14M092277 GC14M088587 GC14M092760 GC14M093840 GC14M074950


(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 SERPINA6 Gene:
This gene encodes an alpha-globulin protein with corticosteroid-binding properties. This is the major transport
protein for glucorticoids and progestins in the blood of most vertebrates. The gene localizes to a chromosomal
region containing several closely related serine protease inhibitors which may have evolved by duplication
events. (provided by RefSeq, Jul 2008)

GeneCards Summary for SERPINA6 Gene:
SERPINA6 (serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6) is a protein-coding gene. Diseases associated with SERPINA6 include corticosteroid-binding globulin deficiency, and prostate disease. GO annotations related to this gene include serine-type endopeptidase inhibitor activity and steroid binding. An important paralog of this gene is SERPING1.

UniProtKB/Swiss-Prot: CBG_HUMAN, P08185
Function: Major transport protein for glucocorticoids and progestins in the blood of almost all vertebrate species

Gene Wiki entry for SERPINA6 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 at NCBI GenBank:
NC_000014.8  NC_018925.2  NT_026437.13  NT_187601.1  
Regulatory elements:
   Regulatory transcription factor binding sites in the SERPINA6 gene promoter:
         RP58   HOXA3   FOXD1   HNF-4alpha2   CBF-C   HNF-4alpha1   CBF-B   CBF-A   Hlf   CBF(2)   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSERPINA6 promoter sequence
   Search Chromatin IP Primers for SERPINA6

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SERPINA6


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

Entrez Gene cytogenetic band: 14q32.1   Ensembl cytogenetic band:  14q32.13   HGNC cytogenetic band: 14q32.13

SERPINA6 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SERPINA6 gene location

GeneLoc information about chromosome 14         GeneLoc Exon Structure

GeneLoc location for GC14M094770:  view genomic region     (about GC identifiers)

Start:
94,770,585 bp from pter      End:
94,789,731 bp from pter
Size:
19,147 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: CBG_HUMAN, P08185 (See protein sequence)
Recommended Name: Corticosteroid-binding globulin precursor  
Size: 405 amino acids; 45141 Da
3 PDB 3D structures from and Proteopedia for SERPINA6:
2VDX (3D)        2VDY (3D)        4BB2 (3D)    
Secondary accessions: A8K456 Q7Z2Q9

Explore the universe of human proteins at neXtProt for SERPINA6: NX_P08185

Explore proteomics data for SERPINA6 at MOPED

Post-translational modifications: 

  • N-glycosylated; binds 5 oligosaccharide chains1
  • Glycosylation in position Asn-260 is needed for steroid binding1
  • Glycosylation2 at Asn31, Asn96, Asn176, Asn260, Asn330, Asn369

  • See SERPINA6 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001747.2  
    ENSEMBL proteins: 
     ENSP00000451045   ENSP00000342850   ENSP00000452018  

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    Browse Proteins at Cloud-Clone Corp.

     
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    antibodies-online proteins for SERPINA6 (33 products) 

     
    antibodies-online peptides for SERPINA6

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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 P08185

    ProtoNet protein and cluster: P08185

    1 Blocks protein domain: IPB000215 Serpin

    UniProtKB/Swiss-Prot: CBG_HUMAN, P08185
    Domain: Proteolytic cleavage leads to an important conformation change. This reduces the affinity for steroids
    Similarity: Belongs to the serpin family


    Find genes that share domains with SERPINA6           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CBG_HUMAN, P08185
    Function: Major transport protein for glucocorticoids and progestins in the blood of almost all vertebrate species

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004867serine-type endopeptidase inhibitor activity IBA--
    GO:0005496steroid binding IDA18513745
         
    Find genes that share ontologies with SERPINA6           About GenesLikeMe


    Phenotypes:
         6 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Serpina6):
     behavior/neurological  homeostasis/metabolism  immune system  liver/biliary system  no phenotypic analysis 
     renal/urinary system 

    Find genes that share phenotypes with SERPINA6           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for SERPINA6: Serpina6tm1.1Mmp Serpina6tm1Tew

       genOway: Develop your customized and physiologically relevant rodent model for SERPINA6

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    Inhib. RNA
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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
    CBG_HUMAN, P08185: Secreted
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    cytosol3
    nucleus2
    plasma membrane2
    endoplasmic reticulum1
    lysosome1
    mitochondrion1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005615extracellular space IBA--

    Find genes that share ontologies with SERPINA6           About GenesLikeMe


    (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 SERPINA6 About    
    See pathways by source

    SuperPathContained pathways About
    1Glucocorticoid Pathway (Peripheral Tissue), Pharmacodynamics
    Glucocorticoid Pathway (Peripheral Tissue), Pharmacodynamics



    1 PharmGKB Pathway for SERPINA6
        Glucocorticoid Pathway (Peripheral Tissue), Pharmacodynamics

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for SERPINA6
    Interactions:

        GeneGlobe Interaction Network for SERPINA6

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    2 Interacting proteins for SERPINA6 (ENSP000003428504) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PRKCSHENSP000002524554STRING: ENSP00000252455
    FOSENSP000003062454STRING: ENSP00000306245
    About this table

    Gene Ontology (GO): 4 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006810transport IEA--
    GO:0008211glucocorticoid metabolic process IEA--
    GO:0010951negative regulation of endopeptidase activity IBA--
    GO:0030162regulation of proteolysis IBA--

    Find genes that share ontologies with SERPINA6           About GenesLikeMe



    (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 SERPINA6 (CBG)

    Selected DrugBank Compounds for SERPINA6 (see all 18)    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    PrednisoloneDeltahydrocortisone (see all 9)50-24-8carrierbinder563315 17139284 6800390 11752352 17016423 7667198
    TriamcinoloneFluoxiprednisolone (see all 9)124-94-7carrierbinder7001446 3996417 17139284 11752352 17016423 7222146
    FlurandrenolideFloudroxycortide (see all 10)1524-88-5carrierbinder10634411 1504007 17139284 11752352 17016423
    Alclometasone-- 66734-13-2carrierbinder17139284 11752352 17016423
    Ciclesonide-- 141845-82-1carrierbinder17139284 11752352 17016423
    Flumethasone Pivalate-- 2002-29-1carrierbinder17139284 11752352 17016423
    Fluocinolone Acetonideflucinolone (see all 4)67-73-2carrierbinder17139284 11752352 17016423
    FluocinonideFluocinolide (see all 7)356-12-7carrierbinder17139284 11752352 17016423
    Paramethasone-- 53-33-8carrierbinder17139284 11752352 17016423
    Rimexolone-- 49697-38-3carrierbinder17139284 11752352 17016423

    Selected Novoseek inferred chemical compound relationships for SERPINA6 gene (see all 57)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    femovan 78.4 1 2142574 (1)
    marvelon 76.9 5 9678089 (1), 7506680 (1), 8689882 (1), 2142574 (1)
    gestodene 76.1 8 8171924 (1), 2308344 (1), 2142574 (1), 2142929 (1) (see all 6)
    desogestrel 76.1 10 1306851 (1), 11518451 (1), 8574256 (1), 2308344 (1) (see all 8)
    pcbg 73.2 5 1659892 (3)
    acth 71.1 60 17904296 (4), 18694862 (4), 17327382 (3), 7641401 (2) (see all 27)
    1,5-difluoro-2,4-dinitrobenzene 68.3 12 7756349 (2), 1849837 (1)
    steroid 65.8 117 19011238 (4), 19643161 (4), 11688946 (3), 1778174 (2) (see all 36)
    dehydroepiandrosterone sulfate 64.2 25 8827784 (4), 1620285 (2), 12699442 (1), 11518451 (1) (see all 13)
    acth 1-24 64 2 16973979 (1), 17370058 (1)



    Find genes that share compounds with SERPINA6           About GenesLikeMe



    (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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for SERPINA6 gene: 
    NM_001756.3  

    Unigene Cluster for SERPINA6:

    Serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6
    Hs.532635  [show with all ESTs]
    Unigene Representative Sequence: BC036818
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000555056(uc010auv.3) ENST00000341584(uc001ycv.3) ENST00000557225

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    Inhib. RNA
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    Additional mRNA sequence: 

    AK225591.1 AK290821.1 AK313760.1 BC017462.1 BC036818.1 BC056259.1 BC058021.1 J02943.1 

    8 DOTS entries:

    DT.100736573  DT.113676  DT.92435954  DT.100022546  DT.92435951  DT.92435952  DT.95161187  DT.432869 

    Selected AceView cDNA sequences (see all 138):

    BM126924 C21275 BI793291 AV661262 R83169 BG751249 BP357113 BI962629 
    BC036818 BM922154 BP358843 CB111934 AV660062 AV661490 BC056259 AV686085 
    AV687659 BP358615 J02943 CB164016 BQ549577 AA334235 AV720215 BP356788 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for SERPINA6    About this scheme

    ExUns: 1a · 1b ^ 2a · 2b · 2c · 2d ^ 3 ^ 4 ^ 5
    SP1:              -                 -                     
    SP2:                                                      
    SP3:              -                                       


    ECgene alternative splicing isoforms for SERPINA6

    (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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    SERPINA6 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ATCTTCGACC
    SERPINA6 Expression
    About this image


    SERPINA6 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 4) fully expand
     
     Pancreas (Endocrine System)    fully expand to see all 4 entries
             Endocrine Progenitor Cells Ventral Pancreatic Bud
     
     Liver (Hepatobiliary System)
             Mesothelial Cells Hepatic Mesenchyme
     
     Heart (Cardiovascular System)
             Atrioventricular Canal Cells Atrioventricular Canal
     
     Kidney (Urinary System)
    SERPINA6 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SERPINA6 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.532635

    UniProtKB/Swiss-Prot: CBG_HUMAN, P08185
    Tissue specificity: Plasma; synthesized in liver. Has also been identified in a number of glycocorticoid
    responsive cells

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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 human and mouse.

    Orthologs for SERPINA6 gene from Selected species (see all 7)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Serpina61 , 5 serine (or cysteine) peptidase inhibitor, clade A, more1, 5 72.06(n)1
    58.75(a)1
      12 (52.98 cM)5
    124011  NM_007618.21  NP_031644.11 
     1036466305 


    ENSEMBL Gene Tree for SERPINA6 (if available)
    TreeFam Gene Tree for SERPINA6 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SERPINA6 gene
    SERPING12  SERPINA12  SERPINA102  SERPINA112  SERPINA72  SERPINA122  SERPINA92  SERPINF12  
    SERPINA52  SERPINA42  SERPIND12  SERPINA32  SERPINF22  
    Selected SIMAP similar genes for SERPINA6 using alignment to 3 protein entries:     CBG_HUMAN (see all proteins) (see all similar genes):
    SERPINA3    SERPINA9    PLANH2    SERPINA12    SERPINA4    SERPINA11
    SERPINA7    SERPINA1    SERPINA2    SERPINA2P    SERPINA5    SERPINA10
    SERPINI1    SERPINB6    SERPINB2    HMSD    SERPINA13P    SERPINB9

    Find genes that share paralogs with SERPINA6           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for SERPINA6
    PGOHUM00000249781


    (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 SERPINA6 (see all 535)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 14 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs289294881,2,,4
    C,FCorticosteroid-binding globulin deficiency (CBG deficiency)4 pathogenic175759666(-) TCTTCG/AACCAC 2 /N /D mis1 ese32Minor allele frequency- A:0.00NA EU 5875
    rs1134189091,2
    C,Fpathogenic175769495(+) CAAAGA/TGTTGG 2 H L mis12Minor allele frequency- T:0.00NA EU 5805
    rs355227511,2
    C--74961318(+) GAAAT-/AAAAGA 1 -- int10--------
    rs1911384921,2
    --75758984(+) GAGGAG/TTTGCT 1 -- ds50010--------
    rs787155821,2
    C--75759042(+) CCAGAT/CTGATA 1 -- ds50014Minor allele frequency- C:0.16NA WA EA 360
    rs1838466431,2
    --75759133(+) GAATGC/TGATTA 1 -- ds50010--------
    rs1857843831,2
    --75759231(+) GAAGCA/GACCTT 1 -- ds50010--------
    rs1460555531,2
    --75759276(+) GACTTC/TCAGCC 1 -- ds50010--------
    rs784614451,2
    C,F--75759322(+) GAGCCT/CGTGGT 1 -- ds50011Minor allele frequency- C:0.10WA 118
    rs792477181,2
    C--75759411(+) AGAACG/CCCCCT 1 -- ds50012Minor allele frequency- C:0.06CSA NA 122

    HapMap Linkage Disequilibrium report for SERPINA6 (94770585 - 94789731 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for SERPINA6:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv832862CNV Gain17160897
    nsv470662CNV Gain18288195

    Human Gene Mutation Database (HGMD): SERPINA6
    Site Specific Mutation Identification with PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers for resequencing SERPINA6
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    (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

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    OMIM gene information: 122500   
    OMIM disorders: 611489  
    UniProtKB/Swiss-Prot: CBG_HUMAN, P08185
  • Corticosteroid-binding globulin deficiency (CBG deficiency) [MIM:611489]: Extremely rare hereditary
    disorder characterized by reduced corticosteroid-binding capacity with normal or low plasma
    corticosteroid-binding globulin concentration, and normal or low basal cortisol levels associated with
    hypo/hypertension and muscle fatigue. Note=The disease is caused by mutations affecting the gene represented in
    this entry

  • 8 diseases for SERPINA6:    
    About MalaCards
    corticosteroid-binding globulin deficiency    prostate disease    glucose intolerance    hepatoblastoma
    anoxia    alpha 1-antitrypsin deficiency    hyperthyroidism    endometriosis

    1 disease from the University of Copenhagen DISEASES database for SERPINA6:
    Cushing's syndrome

    Find genes that share disorders with SERPINA6           About GenesLikeMe

    Selected Novoseek inferred disease relationships for SERPINA6 gene (see all 33)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    hypercortisolemia 63.7 1 9247983 (1)
    hypercortisolism 54 3 18976646 (1)
    social stress 38.2 3 9691975 (3)
    response acute phase 34.9 4 12727952 (2), 19726458 (1), 9360537 (1)
    insulin resistance 30.8 38 12364459 (5), 10651759 (4), 18949680 (4), 15171749 (3) (see all 8)
    hyperthyroidism 23.7 2 17327382 (1), 8130892 (1)
    insulin sensitivity 22.8 12 10651759 (4), 10487686 (2), 10726905 (1), 11586502 (1)
    shock septic 20.1 10 11685298 (3), 18976646 (2), 9360537 (2), 8440110 (1)
    hepatoblastoma 12.8 1 10487686 (1)
    sepsis 9.84 8 17578761 (3), 16973979 (1), 2370299 (1), 1504007 (1) (see all 5)

    Genetic Association Database (GAD): SERPINA6
    Human Genome Epidemiology (HuGE) Navigator: SERPINA6 (15 documents)

    Export disorders for SERPINA6 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

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    PubMed articles for SERPINA6 gene, integrated from 10 sources (see all 353):
    (articles sorted by number of sources associating them with SERPINA6)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Novel human corticosteroid-binding globulin variant with low cortisol-binding affinity. (PubMed id 10634411)1, 2, 7, 9 Emptoz-Bonneton A.... Pugeat M. (J. Clin. Endocrinol. Metab. 2000)
    2. A Leu-->His substitution at residue 93 in human corticosteroid binding globulin results in reduced affinity for cortisol. (PubMed id 1504007)1, 2, 7, 9 Smith C.L.... Hammond G.L. (J. Steroid Biochem. Mol. Biol. 1992)
    3. Primary structure of human corticosteroid binding globulin, deduced from hepatic and pulmonary cDNAs, exhibits homology with serine protease inhibitors. (PubMed id 3299377)1, 2, 3 Hammond G.L.... Bardin C.W. (Proc. Natl. Acad. Sci. U.S.A. 1987)
    4. The S-to-R transition of corticosteroid-binding globulin and the mechanism of hormone release. (PubMed id 18513745)1, 2, 9 Zhou A.... Carrell R.W. (J. Mol. Biol. 2008)
    5. Association between chronic fatigue syndrome and the corticosteroid-binding globulin gene ALA SER224 polymorphism. (PubMed id 15554358)1, 4, 9 Torpy D.J....Whitworth J.A. (Endocr. Res. 2004)
    6. Haploinsufficiency of the SERPINA6 gene is associated with severe muscle fatigue: A de novo mutation in corticosteroid-binding globulin deficiency. (PubMed id 17245537)1, 2, 9 Buss C.... Meyer J. (J. Neural Transm. 2007)
    7. Decreased cortisol-binding affinity of transcortin Leuven is associated with an amino acid substitution at residue-93. (PubMed id 8212073)1, 2, 9 van Baelen H.... Hammond G.L. (Steroids 1993)
    8. Genetic variation in neuroendocrine genes associates with somatic symptoms in the general population: results from the EPIFUND study. (PubMed id 20403506)1, 4, 9 Holliday K.L....McBeth J. (J Psychosom Res 2010)
    9. Corticosteroid binding globulin gene polymorphism influences cortisol driven fat distribution in obese women. (PubMed id 16222046)1, 4, 9 Barat P....Moisan M.P. (Obes. Res. 2005)
    10. A linkage disequilibrium between genes at the serine protease inhibitor gene cluster on chromosome 14q32.1 is associated with Wegener's granulomatosis. (PubMed id 11161981)1, 4, 9 Borgmann S....Fricke H. (Clin. Immunol. 2001)

    (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)
    About This Section

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    Entrez Gene: 866 HGNC: 1540 AceView: SERPINA6 Ensembl:ENSG00000170099 euGenes: HUgn866
    ECgene: SERPINA6 H-InvDB: SERPINA6

    (According to HUGE)
    About This Section

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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)
    About This Section

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    NameDescription
    PharmGKB entry for SERPINA6 Pharmacogenomics, SNPs, Pathways
    Wikipedia http://en.wikipedia.org/wiki/Transcortin

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

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    Patent Information for SERPINA6 gene:
    Search GeneIP for patents involving SERPINA6

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



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