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SERPINA2 Gene

pseudogene   GIFtS: 31
GCID: GC14M094830

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

(Previous names: serpin peptidase inhibitor, clade A (alpha-1 antiproteinase,...)
(Previous symbols: PIL, SERPINA2P)
  Search for SERPINA2
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 2 (Gene/Pseudogene)1 2
     Protease Inhibitor 1 (Alpha-1-Antitrypsin)-Like1
PIL1 2 5     Serpin Peptidase Inhibitor, Clade A (Alpha-1 Antiproteinase, Antitrypsin),
Member 21
SERPINA2P1 2 5     psiATR2
Serpin Peptidase Inhibitor, Clade A (Alpha-1 Antiproteinase, Antitrypsin),
Member 2, Pseudogene1 2
     Putative Alpha-1-Antitrypsin-Related Protein2
ARGS2 5     Serine (Or Cysteine) Proteinase Inhibitor, Clade A (Alpha-1
Antiproteinase, Antitrypsin), Member 22
ATR2 5     Serpin A22

External Ids:    HGNC: 89851   Entrez Gene: 3905022   Ensembl: ENSG000002585977   OMIM: 1074105   UniProtKB: S4UD684   

Export aliases for SERPINA2 gene to outside databases

Previous GC identifers: GC14M092337 GC14M088646 GC14M092820 GC14M093900 GC14M075010


(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 SERPINA2 Gene:
This gene encodes a member of the serpin family of proteins, a group of proteins that inhibit serine proteases.
The encoded intracellular glycoprotein is localized at the endoplasmic reticulum. This gene is a polymorphic
pseudogene, with the non-functional allele being predominant in some populations. Some individuals, as
represented by the reference genome allele, contain a 2kb coding region deletion and a start code mutation.
(provided by RefSeq, Feb 2014)

GeneCards Summary for SERPINA2 Gene:
SERPINA2 (serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 2 (gene/pseudogene)) is a pseudogene.

summary for SERPINA2 Gene:
ATR (Ataxia telangiectasia and Rad3 related) and ATM (Ataxia telangiectasia mutated) are closely related
kinases that are activated by DNA damage. These serine-threonine protein kinases are part of the
phosphatidylinositol 3' kinase-like kinase (PIKK) family. Upon recruitment by the DNA damage binding
proteins/complexes (ATRIP for ATR; MRN for ATM), ATM/ATR initiate the DNA damage checkpoint by
phosphorylating a number of key proteins. Once activated, the checkpoint leads to cell cycle arrest and
either DNA repair or apoptosis. ATM is activated by double stranded breaks and phosphorylates Chk2, whilst
ATR is activated by single strand breaks and phosphorylates Chk1.

Gene Wiki entry for SERPINA2 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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Regulatory elements:
   Regulatory transcription factor binding sites in the SERPINA2 gene promoter:
         E2F   E2F-1   STAT3   NF-kappaB1   NF-kappaB   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSERPINA2 promoter sequence
   Search Chromatin IP Primers for SERPINA2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SERPINA2


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

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

SERPINA2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SERPINA2 gene location

GeneLoc information about chromosome 14         GeneLoc Exon Structure

GeneLoc location for GC14M094830:  view genomic region     (about GC identifiers)

Start:
94,830,651 bp from pter      End:
94,838,714 bp from pter
Size:
8,064 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.,
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UniProtKB/TrEMBL: S4UD68 (See protein sequence)
Recommended Name: Alpha-1-antitrypsin-related protein  
Size: 421 amino acids; 47712 Da

Explore proteomics data for SERPINA2 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See SERPINA2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_006211.2  

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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 S4UD68

    ProtoNet protein and cluster: S4UD68

    UniProtKB/TrEMBL: S4UD68
    Similarity: Belongs to the serpin family


    SERPINA2 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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         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004867serine-type endopeptidase inhibitor activity IBA--
    GO:0005515protein binding IPI--
         
    SERPINA2 for ontologies           About GeneDecksing


    Animal Models:
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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 COMPARTMENTS: 

    CompartmentConfidence
    extracellular3
    nucleus2
    endoplasmic reticulum1
    plasma membrane1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region IBA--
    GO:0005615extracellular space IEA--
    GO:0005783endoplasmic reticulum IDA--

    SERPINA2 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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    Pathways by sourceSee SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for SERPINA2 (see all 13)
        BRCA1 Pathway
    Molecular Mechanisms of Cancer
    DNA Damage Induced 14-3-3Sigma Signaling
    G1-S Phase Transition
    p53 Mediated Apoptosis

    1 Tocris Bioscience Pathway for SERPINA2
        Apoptosis Pathway


        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for SERPINA2
    Interactions:

        Search GeneGlobe Interaction Network for SERPINA2

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

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

    SERPINA2 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 

    Compounds for SERPINA2 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    KU 55933Potent and selective ATM kinase inhibitor[587871-26-9]
    KU 60019Potent ATM kinase inhibitor[925701-46-8]

    6 Novoseek inferred chemical compound relationships for SERPINA2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    dihydrotestosterone 61.7 7 15276623 (2), 18095270 (1), 15131019 (1)
    testosterone 45 17 15276623 (2), 16631469 (1), 17131305 (1), 17636412 (1) (see all 8)
    serine 31.3 4 8977959 (1), 9441744 (1), 7912884 (1), 11161981 (1)
    iron 9.83 1 7506082 (1)
    oligonucleotide 0 2 15131019 (1), 12483528 (1)
    glucose 0 1 8934703 (1)



    SERPINA2 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,
    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 SERPINA2 gene: 
    NM_006220.2  

    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000553483
    miRNA
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    Selected AceView cDNA sequences (see all 2376):

    N74769 BQ643710 BQ477864 V00496 BX427038 BM984667 R97150 R28932 
    BX439179 H80877 BU790259 BQ645533 R19197 BX464246 BX450107 N55325 
    BX340605 CR613171 CB148793 T64758 T67746 BM844325 BG562845 N74553 

    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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    SERPINA2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTCAACCGGC
    SERPINA2 Expression
    About this image

    SERPINA2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SERPINA2 Protein Expression
        Custom PCR Arrays for SERPINA2
    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SERPINA2

    (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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    ENSEMBL Gene Tree for SERPINA2 (if available)
    TreeFam Gene Tree for SERPINA2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SERPINA2 gene
    Selected SIMAP similar genes for SERPINA2 using alignment to 1 protein entry:     S4UD68_HUMAN(see all similar genes):
    SERPINA2P    SERPINA1    AAT    SERPINA5    SERPINA6    HMSD
    SERPINA7    SERPINA9    SERPINI2    SERPINA11    SERPINA4    SERPINA3
    SERPINI1    DKFZp686D06190    SERPINB8    SERPINA10    SERPINA12    SERPINB12

    SERPINA2 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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    2 SNPs for SERPINA2    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 14 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0701904
    ----see VAR_0701902 P L mis40--------
    VAR_0701914
    ----see VAR_0701912 E K mis40--------

    HapMap Linkage Disequilibrium report for SERPINA2 (94830651 - 94838714 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for SERPINA2: --
    Site Specific Mutation Identification with PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers for resequencing SERPINA2
    DNA2.0 Custom Variant and Variant Library Synthesis for SERPINA2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 107410    OMIM disorders: --

    3 diseases from the University of Copenhagen DISEASES database for SERPINA2:
    Pyelonephritis     Typhoid fever     Bacteriuria

    SERPINA2 for disorders           About GeneDecksing

    4 Novoseek inferred disease relationships for SERPINA2 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    alpha 1-antitrypsin deficiency 69.8 1 7912884 (1)
    prostate cancer 42.6 7 18095270 (2), 15131019 (2), 16631469 (1), 12483528 (1) (see all 5)
    tumors 0 1 19118014 (1)
    cancer 0 1 17699749 (1)

    Genetic Association Database (GAD): SERPINA2
    Human Genome Epidemiology (HuGE) Navigator: SERPINA2 (2 documents)

    Export disorders for SERPINA2 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 SERPINA2 gene, integrated from 10 sources (see all 66):
    (articles sorted by number of sources associating them with SERPINA2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. 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)
    2. SERPINA2 is a novel gene with a divergent function from SERPINA1. (PubMed id 23826168)1, 3 Marques P.I.... Seixas S. (PLoS ONE 2013)
    3. Update of the human and mouse SERPIN gene superfamily. (PubMed id 24172014)1, 3 Heit C....Vasiliou V. (Hum. Genomics 2013)
    4. Molecular genetics of successful smoking cessation: convergent genome-wide association study results. (PubMed id 18519826)1, 4 Uhl G.R....Lerman C. (Arch. Gen. Psychiatry 2008)
    5. Sequence organization and matrix attachment regions of the human serine protease inhibitor gene cluster at 14q32.1. (PubMed id 15014966)1, 3 Namciu S.J....Fournier R.E. (Mamm. Genome 2004)
    6. Sequence diversity at the proximal 14q32.1 SERPIN subcluster: evidence for natural selection favoring the pseudogenization of SERPINA2. (PubMed id 17135331)1, 9 Seixas S.... Di Rienzo A. (Mol. Biol. Evol. 2007)
    7. Toward an understanding of the protein interaction network of the human liver. (PubMed id 21988832)1 Wang J....Yang X. (Mol. Syst. Biol. 2011)
    8. Organization and expression of the human serpin gene cluster at 14q32.1. (PubMed id 15769666)1 Marsden M.D. and Fournier R.E. (Front. Biosci. 2005)
    9. Cloning and characterization of an alpha 1-antitrypsin like gene 12 KB downstream of the genuine alpha 1-antitrypsin gene. (PubMed id 2901833)1 Hofker M.H....Frants R.R. (Biochem. Biophys. Res. Commun. 1988)
    10. The human alpha-1-antitrypsin-related sequence gene: isolation and investigation of its expression. (PubMed id 2470331)1 Kelsey G.D....Povey S. (Ann. Hum. Genet. 1988)

    (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: 390502 HGNC: 8985 AceView: SERPINA1andSERPINA2 Ensembl:ENSG00000258597 euGenes: HUgn390502
    ECgene: SERPINA2 H-InvDB: SERPINA2

    (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 SERPINA2 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 SERPINA2 gene:
    Search GeneIP for patents involving SERPINA2

    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
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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