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    AHSA2P activator of HSP90 ATPase homolog 2, pseudogene [ Homo sapiens (human) ]

    Gene ID: 130872, updated on 10-Dec-2024

    Summary

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    Official Symbol
    AHSA2Pprovided by HGNC
    Official Full Name
    activator of HSP90 ATPase homolog 2, pseudogeneprovided by HGNC
    Primary source
    HGNC:HGNC:20437
    See related
    Ensembl:ENSG00000293434 AllianceGenome:HGNC:20437
    Gene type
    pseudo
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    AHA1; Hch1; AHSA2
    Summary
    Predicted to enable ATPase activator activity. Predicted to be involved in protein folding. Predicted to be active in cytosol. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in spleen (RPKM 24.2), lymph node (RPKM 21.9) and 25 other tissues See more
    Orthologs
    all
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    Genomic context

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    See AHSA2P in Genome Data Viewer
    Location:
    2p15
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (61177418..61188925)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (61183270..61194773)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (61404553..61416060)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:61371323-61372244 Neighboring gene C2orf74 divergent transcript Neighboring gene C2orf74 antisense RNA 1 Neighboring gene chromosome 2 open reading frame 74 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:61395441-61395942 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11525 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:61407627-61408205 Neighboring gene ubiquitin specific peptidase 34 Neighboring gene Sharpr-MPRA regulatory region 13579 Neighboring gene BNIP3 pseudogene 45 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr2:61504619-61505818 Neighboring gene NANOG hESC enhancer GRCh37_chr2:61607882-61608383 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:61644005-61644197 Neighboring gene small nucleolar RNA, H/ACA box 70B

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Gene expression network analysis of lymph node involvement in colon cancer identifies AHSA2, CDK10, and CWC22 as possible prognostic markers. Han SW, et al. Sci Rep, 2020 Apr 28. PMID 32345988, Free PMC Article
    2. Structural basis for recruitment of the ATPase activator Aha1 to the Hsp90 chaperone machinery. Meyer P, et al. EMBO J, 2004 Feb 11. PMID 14739935, Free PMC Article
    3. Automated immobilized metal affinity chromatography/nano-liquid chromatography/electrospray ionization mass spectrometry platform for profiling protein phosphorylation sites. Ficarro SB, et al. Rapid Commun Mass Spectrom, 2005. PMID 15570572
    4. Multiple common variants for celiac disease influencing immune gene expression. Dubois PC, et al. Nat Genet, 2010 Apr. PMID 20190752, Free PMC Article
    5. AMPK Interactome Reveals New Function in Non-homologous End Joining DNA Repair. Chen Z, et al. Mol Cell Proteomics, 2020 Mar. PMID 31900314, Free PMC Article

    See all (15) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Gene expression network analysis of lymph node involvement in colon cancer identifies AHSA2, CDK10, and CWC22 as possible prognostic markers.
      Title: Gene expression network analysis of lymph node involvement in colon cancer identifies AHSA2, CDK10, and CWC22 as possible prognostic markers.
    Submit: New GeneRIF Correction

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
    EBI GWAS Catalog
    Multiple common variants for celiac disease influencing immune gene expression.
    EBI GWAS Catalog

    Variation

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    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Other Names

    • AHA1, activator of heat shock 90kDa protein ATPase homolog 2
    • activator of 90 kDa heat shock protein ATPase homolog 2

    Clone Names

    • FLJ34679, FLJ41715, DKFZp564C236

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATPase activator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein-folding chaperone binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in protein folding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    RNA

    1. NR_152210.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC016747, BC050395

    2. NR_152211.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AA856729, AC016747, BC030998
      Related
      ENST00000357022.6

    3. NR_152212.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AA856729, AC016747

    4. NR_152213.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AA856729, AC016747
      Related
      ENST00000642732.1

    5. NR_152215.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AA856729, AC016747, BC063789

    6. NR_152216.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AA856729, AC016747, AK092505, BC063789

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      61177418..61188925
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      61183270..61194773
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001321300.1: Suppressed sequence

      Description
      NM_001321300.1: This RefSeq was removed because it is now thought that this gene is a pseudogene.

    2. NM_001321301.1: Suppressed sequence

      Description
      NM_001321301.1: This RefSeq was removed because it is now thought that this gene is a pseudogene.

    3. NM_001321302.1: Suppressed sequence

      Description
      NM_001321302.1: This RefSeq was removed because it is now thought that this gene is a pseudogene.

    4. NM_001321303.1: Suppressed sequence

      Description
      NM_001321303.1: This RefSeq was removed because it is now thought that this gene is a pseudogene.

    5. NM_001321304.1: Suppressed sequence

      Description
      NM_001321304.1: This RefSeq was removed because it is now thought that this gene is a pseudogene.

    6. NM_001321305.1: Suppressed sequence

      Description
      NM_001321305.1: This RefSeq was removed because it is now thought that this gene is a pseudogene.

    7. NM_152392.4: Suppressed sequence

      Description
      NM_152392.4: This RefSeq was removed because it is now thought that this gene is a pseudogene.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q719I0.2 GenPept UniProtKB/Swiss-Prot:Q719I0

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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