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    A2MP1 alpha-2-macroglobulin pseudogene 1 [ Homo sapiens (human) ]

    Gene ID: 3, updated on 17-Sep-2024

    Summary

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    Official Symbol
    A2MP1provided by HGNC
    Official Full Name
    alpha-2-macroglobulin pseudogene 1provided by HGNC
    Primary source
    HGNC:HGNC:8
    See related
    Ensembl:ENSG00000291190 AllianceGenome:HGNC:8
    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
    A2MP
    Expression
    Biased expression in adrenal (RPKM 1.1), spleen (RPKM 0.5) and 11 other tissues See more
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    Genomic context

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    See A2MP1 in Genome Data Viewer
    Location:
    12p13.31
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (9228533..9234207, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (9211052..9216723, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (9381129..9386803, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene killer cell lectin like receptor G1 Neighboring gene BTG anti-proliferation factor 1 pseudogene 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:9322697-9323208 Neighboring gene PZP alpha-2-macroglobulin like Neighboring gene TPT1 pseudogene 12 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr12:9393003-9394202 Neighboring gene pregnancy zone protein-like Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4223 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4224 Neighboring gene microRNA 1244-3 Neighboring gene long intergenic non-protein coding RNA 987 Neighboring gene prothymosin alpha pseudogene 4

    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 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. Recombinant soluble glypican 3 protein inhibits the growth of hepatocellular carcinoma in vitro. Feng M, et al. Int J Cancer, 2011 May 1. PMID 20617511, Free PMC Article
    2. A cluster of alpha 2-macroglobulin-related genes (alpha 2 M) on human chromosome 12p: cloning of the pregnancy-zone protein gene and an alpha 2M pseudogene. Devriendt K, et al. Gene, 1989 Sep 30. PMID 2478422
    3. Activator-independent transcription of Snf1-dependent genes in mutants lacking histone tails. Infante JJ, et al. Mol Microbiol, 2011 Apr. PMID 21338416, Free PMC Article
    4. An association analysis of Alzheimer disease candidate genes detects an ancestral risk haplotype clade in ACE and putative multilocus association between ACE, A2M, and LRRTM3. Edwards TL, et al. Am J Med Genet B Neuropsychiatr Genet, 2009 Jul 5. PMID 19105203, Free PMC Article
    5. Genetic variants associated with breast size also influence breast cancer risk. Eriksson N, et al. BMC Med Genet, 2012 Jun 30. PMID 22747683, Free PMC Article

    See all (6) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Quantitative real-time PCR confirmed that the histone H3 and H4 tails were important to preserve stringent transcriptional repression of Snf1-dependent genes when glucose was present.
      Title: Activator-independent transcription of Snf1-dependent genes in mutants lacking histone tails.
    2. recombinant soluble glycipan 3 protein can inhibit the proliferation of hepatocellular carcinoma in vitro
      Title: Recombinant soluble glypican 3 protein inhibits the growth of hepatocellular carcinoma in vitro.
    3. Observational study of gene-disease association. (HuGE Navigator)
      Title: An association analysis of Alzheimer disease candidate genes detects an ancestral risk haplotype clade in ACE and putative multilocus association between ACE, A2M, and LRRTM3.
    Submit: New GeneRIF Correction

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genetic variants associated with breast size also influence breast cancer risk.
    EBI GWAS Catalog

    Variation

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    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    General gene information

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    Other Names

    • pregnancy-zone protein pseudogene

    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_040112.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC010175, DB301195, DV080209, DV080210, DY655604
      Related
      ENST00000543404.5

    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_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      9228533..9234207 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      9211052..9216723 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NG_001067.2: Suppressed sequence

      Description
      NG_001067.2: This RefSeq was permanently suppressed because it is now thought that this pseudogene is transcribed.
    Nucleotide Protein
    Heading Accession and Version

    Gene LinkOut

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