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

AHSA2 Gene

protein-coding   GIFtS: 48
GCID: GC02P061404

AHA1, Activator Of Heat Shock 90kDa Protein ATPase Homolog...

  See related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
AHA1, Activator Of Heat Shock 90kDa Protein ATPase Homolog 2
(Yeast)1 2
Hch12
Activator Of 90 KDa Heat Shock Protein ATPase Homolog 22

External Ids:    HGNC: 204371   Entrez Gene: 1308722   Ensembl: ENSG000001732097   UniProtKB: Q719I03   

Export aliases for AHSA2 gene to outside databases

Previous GC identifers: GC02P061591 GC02P061362 GC02P061379 GC02P061316 GC02P061258 GC02P061145


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

GeneCards Summary for AHSA2 Gene: 
AHSA2 (AHA1, activator of heat shock 90kDa protein ATPase homolog 2 (yeast)) is a protein-coding gene. Diseases associated with AHSA2 include celiac disease. GO annotations related to this gene include ATPase activator activity and chaperone binding. An important paralog of this gene is AHSA1.

UniProtKB/Swiss-Prot: AHSA2_HUMAN, Q719I0
Function: Co-chaperone that stimulates HSP90 ATPase activity (By similarity)




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NT_022184.15  NC_018913.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the AHSA2 gene promoter:
         AML1a   ATF-2   AREB6   MZF-1   PPAR-gamma1   FOXJ2 (long isoform)   c-Myb   PPAR-gamma2   FOXJ2   Pax-4a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidAHSA2 promoter sequence
   Search SABiosciences Chromatin IP Primers for AHSA2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat AHSA2


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

Entrez Gene cytogenetic band: 2p15   Ensembl cytogenetic band:  2p15   HGNC cytogenetic band: 2p14

AHSA2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
AHSA2 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02P061404:  view genomic region     (about GC identifiers)

Start:
61,404,553 bp from pter      End:
61,414,686 bp from pter
Size:
10,134 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: AHSA2_HUMAN, Q719I0 (See protein sequence)
Recommended Name: Activator of 90 kDa heat shock protein ATPase homolog 2  
Size: 299 amino acids; 33806 Da
Secondary accessions: B3KS51 D6W5E0 Q8NDU5
Alternative splicing: 3 isoforms:  Q719I0-1   Q719I0-2   Q719I0-3   

Explore the universe of human proteins at neXtProt for AHSA2: NX_Q719I0

Explore proteomics data for AHSA2 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q719I0

  • AHSA2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    AHSA2 Protein Expression
    REFSEQ proteins: NP_689605.1  
    ENSEMBL proteins: 
     ENSP00000349525   ENSP00000377970   ENSP00000386721  

    Human Recombinant Protein Products for AHSA2: 
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    Cloud-Clone Corp. CLIAs for AHSA2


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    1 InterPro protein domain:
     IPR015310 AHSA1_N

    Graphical View of Domain Structure for InterPro Entry Q719I0

    ProtoNet protein and cluster: Q719I0

    UniProtKB/Swiss-Prot: AHSA2_HUMAN, Q719I0
    Similarity: Belongs to the AHA1 family


    AHSA2 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,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: AHSA2_HUMAN, Q719I0
    Function: Co-chaperone that stimulates HSP90 ATPase activity (By similarity)

         Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001671ATPase activator activity IEA--
    GO:0051087chaperone binding IEA--
         
    AHSA2 for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for AHSA2 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for AHSA2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for AHSA2 
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    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat AHSA2
    8/25 QIAGEN miScript miRNA Assays for microRNAs that regulate AHSA2 (see all 25):
    hsa-miR-579 hsa-miR-548j hsa-miR-26a-2* hsa-miR-520d-5p hsa-miR-548i hsa-miR-219-5p hsa-miR-508-3p hsa-miR-548g
    SwitchGear 3'UTR luciferase reporter plasmidAHSA2 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Clone
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AHSA2


    (Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
    About This Section




    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for AHSA2

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    1 Interacting protein for AHSA2 (Q719I03 ENSP000003495254) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HSP90AA1P079003, ENSP000003351534I2D: score=3 STRING: ENSP00000335153
    About this table

    Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006950response to stress IEA--

    AHSA2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for AHSA2

    Search CenterWatch for drugs/clinical trials and news about AHSA2

    (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,
    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, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for AHSA2 gene: 
    NM_152392.3  

    Unigene Cluster for AHSA2:

    AHA1, activator of heat shock 90kDa protein ATPase homolog 2 (yeast)
    Hs.655602  [show with all ESTs]
    Unigene Representative Sequence: BC050395
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000357022(uc002sbb.2) ENST00000463681 ENST00000489653 ENST00000394457(uc002sbc.2)
    ENST00000471542 ENST00000493310 ENST00000493628 ENST00000487904 ENST00000484217
    ENST00000410073 ENST00000491217
    miRNA
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    8/25 QIAGEN miScript miRNA Assays for microRNAs that regulate AHSA2 (see all 25):
    hsa-miR-579 hsa-miR-548j hsa-miR-26a-2* hsa-miR-520d-5p hsa-miR-548i hsa-miR-219-5p hsa-miR-508-3p hsa-miR-548g
    SwitchGear 3'UTR luciferase reporter plasmidAHSA2 3' UTR sequence
    Inhib. RNA
    Products:
         
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat AHSA2
    Sirion Biotech Customized lentivirus for stable overexpression of AHSA2 
                         Customized lentivirus expression plasmids for stable overexpression of AHSA2 
    Primer
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat AHSA2
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat AHSA2

    Additional mRNA sequence: 

    AF542548.1 AK092817.1 AL833813.1 BC030998.1 BC050395.1 BC063789.1 BC113671.1 BC117278.1 

    16 DOTS entries:

    DT.91762456  DT.100655337  DT.100829594  DT.121644180  DT.100654230  DT.100029825  DT.100655333  DT.454582 
    DT.100854990  DT.211043  DT.100804323  DT.99934461  DT.120949860  DT.120950002  DT.101864  DT.120949839 

    24/283 AceView cDNA sequences (see all 283):

    BX505714 AW451720 BX398452 W44861 BU741050 AI805415 W24002 BI908207 
    AI468697 CB053067 AI917151 AL703557 BX370090 BE047823 BX119717 AA448560 
    BM782250 AA856729 AK123709 BG740575 AA507079 BC050395 AL703560 AL833813 

    GeneLoc Exon Structure

    5/8 Alternative Splicing Database (ASD) splice patterns (SP) for AHSA2 (see all 8)    About this scheme

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


    ECgene alternative splicing isoforms for AHSA2

    (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

    AHSA2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AAATTCTGTT
    AHSA2 Expression
    About this image


    See AHSA2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for AHSA2

    SOURCE GeneReport for Unigene cluster: Hs.655602
        SABiosciences Custom PCR Arrays for AHSA2
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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AHSA2

    (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 animals and fungi.

    Orthologs for AHSA2 gene from 4/10 species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves AHSA26
    activator of 90 kDa heat shock protein ATPase homo...
    21(a)
    1 ↔ 1
    3(2166421-2173865)
    fruit fly
    (Drosophila melanogaster)
    Insecta CG14166
    --
    9(a)
    1 → many
    2L(21758010-21761000)
    worm
    (Caenorhabditis elegans)
    Secernentea C01G10.86
    Protein C01G10.8
    6(a)
    1 → many
    V(15084058-15085385)
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes AHA16
    HCH16
    Co-chaperone that binds to Hsp82p and activates it...
    Heat shock protein regulator that binds to Hsp90p ...
    6(a)
    5(a)
    many ↔ many
    many ↔ many
    IV(892875-893927)
    XIV(108467-108928)
            Species with no ortholog for AHSA2

    ENSEMBL Gene Tree for AHSA2 (if available)
    TreeFam Gene Tree for AHSA2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for AHSA2 gene
    AHSA12  
    1 SIMAP similar gene for AHSA2 using alignment to 2 protein entries:     AHSA2_HUMAN (see all proteins):
    AHSA1

    AHSA2 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) 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

    10/266 SNPs in AHSA2 are shown (see all 266)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0382564
    A breast cancer sample4--see VAR_0382562 M T mis40--------
    rs105394511,2
    C--61268622(+) AATGA-/TT/TTT
            
    TTTTT
    2 -- us2k1 cds10--------
    rs1853691161,2
    --61402613(+) AAAAGA/GCTCAA 1 -- us2k10--------
    rs26006701,2
    C,F--61402714(+) TCTACC/TGTGCA 1 -- us2k17Minor allele frequency- T:0.41NA WA CSA EA 365
    rs1178170281,2
    F--61402744(+) TGCCTT/CTGTGG 1 -- us2k11Minor allele frequency- C:0.01EA 120
    rs1894014961,2
    --61402805(+) ACCTCA/TTACCT 1 -- us2k10--------
    rs1509054721,2
    C--61402842(+) AAGCCG/TCATTC 1 -- us2k10--------
    rs1919372671,2
    --61402953(+) GACGCA/GTTTAC 1 -- us2k10--------
    rs1842674611,2
    --61403062(+) TGTCCA/GAAAGT 1 -- us2k10--------
    rs116948391,2
    H--61403243(+) cccagC/Gtagtt 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for AHSA2 (61404553 - 61414686 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for AHSA2:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv819479CNV Loss19587683
    nsv874211CNV Loss21882294
    nsv874212CNV Gain21882294

    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    2 diseases for AHSA2:    About MalaCards
    celiac disease    


    AHSA2 for disorders           About GeneDecksing

    Genetic Association Database (GAD): AHSA2

    Export disorders for AHSA2 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

    PubMed articles for AHSA2 gene, integrated from 9 sources (see all 13):
    (articles sorted by number of sources associating them with AHSA2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Activation of the ATPase activity of hsp90 by the stress-regulated cochaperone aha1. (PubMed id 12504007)1, 2, 3 Panaretou B....Prodromou C. (2002)
    2. Multiple common variants for celiac disease influenci ng immune gene expression. (PubMed id 20190752)1, 4 Dubois P.C....van Heel D.A. (2010)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    4. Aha1 binds to the middle domain of Hsp90, contributes to client protein activation, and stimulates the ATPase activity of the molecular chaperone. (PubMed id 12604615)1, 9 Lotz G.P.... Obermann W.M.J. (2003)
    5. Host-microbe interactions have shaped the genetic arch itecture of inflammatory bowel disease. (PubMed id 23128233)1 Jostins L....Cho J.H. (2012)
    6. The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (2007)
    7. The consensus coding sequences of human breast and colorectal cancers. (PubMed id 16959974)2 Sjoeblom T.... Velculescu V.E. (2006)
    8. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)2 Hillier L.W....Wilson R.K. (2005)
    9. Automated immobilized metal affinity chromatography/nano-liquid chromatography/electrospray ionization mass spectrometry platform for profiling protein phosphorylation sites. (PubMed id 15570572)1 Ficarro S.B....Peters E.C. (2005)
    10. Structural basis for recruitment of the ATPase activator Aha1 to the Hsp90 chaperone machinery. (PubMed id 14739935)1 Meyer P....Pearl L.H. (2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
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    NCBI Bookshelf
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 130872 HGNC: 20437 AceView: AHSA2 Ensembl:ENSG00000173209 euGenes: HUgn130872
    ECgene: AHSA2 H-InvDB: AHSA2

    (According to HUGE)
    About This Section
      --

    (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 AHSA2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for AHSA2 gene:
    Search GeneIP for patents involving AHSA2

    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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

     
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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