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    TMEM192 transmembrane protein 192 [ Homo sapiens (human) ]

    Gene ID: 201931, updated on 27-Nov-2024

    Summary

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    Official Symbol
    TMEM192provided by HGNC
    Official Full Name
    transmembrane protein 192provided by HGNC
    Primary source
    HGNC:HGNC:26775
    See related
    Ensembl:ENSG00000170088 MIM:620677; AllianceGenome:HGNC:26775
    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
    Enables protein homodimerization activity. Located in several cellular components, including late endosome; lysosomal membrane; and perinuclear region of cytoplasm. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in kidney (RPKM 15.7), thyroid (RPKM 11.0) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TMEM192 in Genome Data Viewer
    Location:
    4q32.3
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (165070608..165112860, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (168418071..168457901, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (165991760..166034012, complement)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:165952653-165953309 Neighboring gene tripartite motif containing 60 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:165990521-165991020 Neighboring gene tripartite motif containing 75 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22115 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15782 Neighboring gene ReSE screen-validated silencer GRCh37_chr4:166033986-166034184 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22116 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:166128334-166128834 Neighboring gene NANOG hESC enhancer GRCh37_chr4:166135415-166135959 Neighboring gene kelch like family member 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22117 Neighboring gene RNA, U4 small nuclear 87, pseudogene Neighboring gene glycerol kinase 3

    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. Two dileucine motifs mediate late endosomal/lysosomal targeting of transmembrane protein 192 (TMEM192) and a C-terminal cysteine residue is responsible for disulfide bond formation in TMEM192 homodimers. Behnke J, et al. Biochem J, 2011 Mar 1. PMID 21143193
    2. Molecular characterisation of 'transmembrane protein 192' (TMEM192), a novel protein of the lysosomal membrane. Schröder B, et al. Biol Chem, 2010 Jun. PMID 20370317
    3. Lysosomal membrane protein TMEM192 deficiency triggers crosstalk between autophagy and apoptosis in HepG2 hepatoma cells. Liu Z, et al. Oncol Rep, 2012 Sep. PMID 22736246
    4. Tazarotene-Induced Gene 1 Enhanced Cervical Cell Autophagy through Transmembrane Protein 192. Shyu RY, et al. Mol Cells, 2016 Dec. PMID 27989102, Free PMC Article
    5. SNAT7 regulates mTORC1 via macropinocytosis. Meng D, et al. Proc Natl Acad Sci U S A, 2022 May 17. PMID 35561222, Free PMC Article

    See all (26) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Authors found that transmembrane protein 192 (TMEM192) interacted with TIG1. Authors also found that both TIG1A and TIG1B isoforms interacted and co-localized with TMEM192 in HtTA cervical cancer cells. The expression of TIG1 induced the expression of autophagy-related proteins.
      Title: Tazarotene-Induced Gene 1 Enhanced Cervical Cell Autophagy through Transmembrane Protein 192.
    2. TMEM192 deficiency can induce autophagy in tumor cells, and can further activate apoptosis by the mitochondrial pathway through autophagy.
      Title: Lysosomal membrane protein TMEM192 deficiency triggers crosstalk between autophagy and apoptosis in HepG2 hepatoma cells.
    3. TMEM192 was found to be strongly expressed in human kidney, liver, lung and pancreas tissue. The widespread tissue distribution could suggest an important role of TMEM192 for lysosomal function.
      Title: Molecular characterisation of 'transmembrane protein 192' (TMEM192), a novel protein of the lysosomal membrane.
    Submit: New GeneRIF Correction

    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)

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Vpu vpu HIV-1 Vpu is identified to have a physical interaction with transmembrane protein 192 (TMEM192) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ38482

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein homodimerization activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    NOT located_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    NOT located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in endosome IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in late endosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in late endosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in lysosomal membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in lysosomal membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in lysosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    NOT located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in perinuclear region of cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    NOT located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    transmembrane protein 192

    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_001100389.2 → NP_001093859.1  transmembrane protein 192

      See identical proteins and their annotated locations for NP_001093859.1

      Status: VALIDATED

      Source sequence(s)
      AA346826, AC108465, AW137472, BC036301
      Consensus CDS
      CCDS43279.1
      UniProtKB/Swiss-Prot
      Q7Z3A1, Q8IY95, Q8N928
      Related
      ENSP00000305069.4, ENST00000306480.11
      Conserved Domains (1) summary
      pfam14802
      Location:26 → 259
      TMEM192; TMEM192 family

    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_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      165070608..165112860 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011531718.4 → XP_011530020.1  transmembrane protein 192 isoform X1

      Conserved Domains (1) summary
      pfam14802
      Location:26 → 214
      TMEM192; TMEM192 family

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      168418071..168457901 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054349166.1 → XP_054205141.1  transmembrane protein 192 isoform X1

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_152681.1: Suppressed sequence

      Description
      NM_152681.1: This RefSeq was temporarily suppressed because currently there is not sufficient data to support this transcript.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8IY95.1 GenPept UniProtKB/Swiss-Prot:Q8IY95

    Gene LinkOut

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

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