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    TMEM52 transmembrane protein 52 [ Homo sapiens (human) ]

    Gene ID: 339456, updated on 5-Mar-2024

    Summary

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    Official Symbol
    TMEM52provided by HGNC
    Official Full Name
    transmembrane protein 52provided by HGNC
    Primary source
    HGNC:HGNC:27916
    See related
    Ensembl:ENSG00000178821 AllianceGenome:HGNC:27916
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Biased expression in pancreas (RPKM 21.0), adrenal (RPKM 9.0) and 10 other tissues See more
    Orthologs
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    Genomic context

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    Location:
    1p36.33
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (1917591..1919279, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (1352013..1353729, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (1849030..1850718, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124903822 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 45 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 98 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:1840895-1841864 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:1845520-1846206 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:1850035-1850836 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:1850896-1851489 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:1851490-1852082 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:1853696-1853880 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:1854781-1855281 Neighboring gene calmodulin like 6 Neighboring gene cilia and flagella associated protein 74 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:1871092-1871328 Neighboring gene uncharacterized LOC107984872 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:1889089-1889729 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:1889730-1890369 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:1891315-1892020 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:1902122-1902903 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:1904270-1904833 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:1905091-1905258 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:1910063-1911020 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:1911021-1911978 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:1917517-1918208 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:1918209-1918899 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:1919795-1920994 Neighboring gene Sharpr-MPRA regulatory region 11961 Neighboring gene uncharacterized LOC105378589

    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. Modeling methylation data as an additional genetic variance component. Almeida M, et al. BMC Proc, 2018. PMID 30263043, Free PMC Article
    2. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. Clark HF, et al. Genome Res, 2003 Oct. PMID 12975309, Free PMC Article
    3. Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation. Brandenberger R, et al. Nat Biotechnol, 2004 Jun. PMID 15146197
    4. Histone Interaction Landscapes Visualized by Crosslinking Mass Spectrometry in Intact Cell Nuclei. Fasci D, et al. Mol Cell Proteomics, 2018 Oct. PMID 30021884, Free PMC Article

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    transmembrane protein 52

    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.

    mRNA and Protein(s)

    1. NM_178545.4 → NP_848640.1  transmembrane protein 52 precursor

      See identical proteins and their annotated locations for NP_848640.1

      Status: VALIDATED

      Source sequence(s)
      AJ278736, CN263898
      Consensus CDS
      CCDS35.1
      UniProtKB/Swiss-Prot
      Q4VXS6, Q6UX25, Q8NDY8
      Related
      ENSP00000311122.3, ENST00000310991.8
      Conserved Domains (1) summary
      pfam14979
      Location:43 → 182
      TMEM52; Transmembrane 52

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      1917591..1919279 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047419240.1 → XP_047275196.1  transmembrane protein 52 isoform X3

    2. XM_047419237.1 → XP_047275193.1  transmembrane protein 52 isoform X2

    3. XM_047419236.1 → XP_047275192.1  transmembrane protein 52 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      1352013..1353729 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054336259.1 → XP_054192234.1  transmembrane protein 52 isoform X3

    2. XM_054336258.1 → XP_054192233.1  transmembrane protein 52 isoform X4

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8NDY8.1 GenPept UniProtKB/Swiss-Prot:Q8NDY8

    Gene LinkOut

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

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