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    TMEM19 transmembrane protein 19 [ Homo sapiens (human) ]

    Gene ID: 55266, updated on 2-Nov-2024

    Summary

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    Official Symbol
    TMEM19provided by HGNC
    Official Full Name
    transmembrane protein 19provided by HGNC
    Primary source
    HGNC:HGNC:25605
    See related
    Ensembl:ENSG00000139291 AllianceGenome:HGNC:25605
    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 active in membrane. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in kidney (RPKM 11.7), duodenum (RPKM 10.9) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TMEM19 in Genome Data Viewer
    Location:
    12q21.1
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (71686082..71705047)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (71663584..71682554)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (72079862..72098827)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene zinc finger C3H1-type containing Neighboring gene small nucleolar RNA SNORA17 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6659 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:72057723-72058281 Neighboring gene uncharacterized LOC124902965 Neighboring gene THAP domain containing 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4658 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:72080194-72080409 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6661 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6662 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:72101517-72101722 Neighboring gene uncharacterized LOC107984530 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr12:72103459-72104658 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr12:72119048-72120247 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:72141645-72141854 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6663 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4659 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6664 Neighboring gene RAB21, member RAS oncogene family

    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. Systematic protein-protein interaction mapping for clinically relevant human GPCRs. Sokolina K, et al. Mol Syst Biol, 2017 Mar 15. PMID 28298427, Free PMC Article
    2. Sequential genome-wide CRISPR-Cas9 screens identify genes regulating cell-surface expression of tetraspanins. Yang J, et al. Cell Rep, 2023 Feb 28. PMID 36724073
    3. SUMOylation of DDX39A Alters Binding and Export of Antiviral Transcripts to Control Innate Immunity. Shi P, et al. J Immunol, 2020 Jul 1. PMID 32393512
    4. Next-generation sequencing to generate interactome datasets. Yu H, et al. Nat Methods, 2011 Jun. PMID 21516116, Free PMC Article
    5. Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations. Fragoza R, et al. Nat Commun, 2019 Sep 12. PMID 31515488, Free PMC Article

    See all (14) citations in PubMed

    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

    Potential readthrough

    Included gene: THAP2

    Homology

    Clone Names

    • FLJ10936

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    transmembrane protein 19

    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_018279.4 → NP_060749.2  transmembrane protein 19

      See identical proteins and their annotated locations for NP_060749.2

      Status: VALIDATED

      Source sequence(s)
      AC073612, BC008596
      Consensus CDS
      CCDS9002.1
      UniProtKB/Swiss-Prot
      B2RDL2, Q53FY3, Q96HH6, Q9NV41
      Related
      ENSP00000266673.5, ENST00000266673.10
      Conserved Domains (1) summary
      pfam01940
      Location:63 → 320
      DUF92; Integral membrane protein DUF92

    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
      71686082..71705047
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      71663584..71682554
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96HH6.1 GenPept UniProtKB/Swiss-Prot:Q96HH6

    Gene LinkOut

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

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