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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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See TMEM52 in Genome Data Viewer
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

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