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    TNRC18 trinucleotide repeat containing 18 [ Homo sapiens (human) ]

    Gene ID: 84629, updated on 27-Nov-2024

    Summary

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    Official Symbol
    TNRC18provided by HGNC
    Official Full Name
    trinucleotide repeat containing 18provided by HGNC
    Primary source
    HGNC:HGNC:11962
    See related
    Ensembl:ENSG00000182095 MIM:620902; AllianceGenome:HGNC:11962
    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
    Also known as
    CAGL79; TNRC18A
    Summary
    Predicted to enable chromatin binding activity. Located in cytosol; mitochondrion; and nucleus. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in kidney (RPKM 6.4), colon (RPKM 6.2) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TNRC18 in Genome Data Viewer
    Location:
    7p22.1
    Exon count:
    36
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (5306811..5423834, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (5424509..5541506, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (5346442..5463465, complement)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene MPRA-validated peak6354 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17908 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17909 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17910 Neighboring gene RNA, U6 small nuclear 215, pseudogene Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:5257932-5259131 Neighboring gene WD repeat domain, phosphoinositide interacting 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:5262434-5263183 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25574 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17911 Neighboring gene Sharpr-MPRA regulatory region 13937 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25575 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17912 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:5323448-5324013 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:5324014-5324580 Neighboring gene Sharpr-MPRA regulatory region 9837 Neighboring gene Sharpr-MPRA regulatory region 3727 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17913 Neighboring gene solute carrier family 29 member 4 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:5350589-5351090 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:5351091-5351590 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:5362189-5362722 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:5362723-5363256 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:5387551-5388392 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:5390077-5390917 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:5395754-5396256 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:5421456-5422020 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:5422021-5422584 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25576 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:5441055-5441556 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:5443987-5444488 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:5447921-5448510 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:5447331-5447920 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:5458249-5458998 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17914 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:5467243-5467992 Neighboring gene long intergenic non-protein coding RNA 2983 Neighboring gene long intergenic non-protein coding RNA 3073 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:5485342-5486174 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:5491262-5491967 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:5495336-5495836 Neighboring gene F-box and leucine rich repeat protein 18 Neighboring gene small nucleolar RNA U13

    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. Disruption of PCDH10 and TNRC18 Genes due to a Balanced Translocation. Zamariolli M, et al. Cytogenet Genome Res, 2020. PMID 32535594
    2. Tryptic digestion of ubiquitin standards reveals an improved strategy for identifying ubiquitinated proteins by mass spectrometry. Denis NJ, et al. Proteomics, 2007 Mar. PMID 17370265
    3. cDNAs with long CAG trinucleotide repeats from human brain. Margolis RL, et al. Hum Genet, 1997 Jul. PMID 9225980
    4. Common variants in left/right asymmetry genes and pathways are associated with relative hand skill. Brandler WM, et al. PLoS Genet, 2013. PMID 24068947, Free PMC Article
    5. Family with sequence similarity 60A (FAM60A) protein is a cell cycle-fluctuating regulator of the SIN3-HDAC1 histone deacetylase complex. Muñoz IM, et al. J Biol Chem, 2012 Sep 21. PMID 22865885, Free PMC Article

    See all (40) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Disruption of PCDH10 and TNRC18 Genes due to a Balanced Translocation.
      Title: Disruption of PCDH10 and TNRC18 Genes due to a Balanced Translocation.
    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

    EBI GWAS Catalog

    Description
    Common variants in left/right asymmetry genes and pathways are associated with relative hand skill.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • KIAA1856

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables chromatin binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nuclear membrane IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    trinucleotide repeat-containing gene 18 protein
    Names
    long CAG trinucleotide repeat-containing gene 79 protein

    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.

    Genomic

    1. NG_034123.1 RefSeqGene

      Range
      4713..121736
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001080495.3 → NP_001073964.2  trinucleotide repeat-containing gene 18 protein

      See identical proteins and their annotated locations for NP_001073964.2

      Status: VALIDATED

      Source sequence(s)
      AB058759, AC092171, AC093376, AC093620, AI738451, BC029940, BC131808, BX396597, CN295035, CR993399, DN990416, DR159642, U80753
      Consensus CDS
      CCDS47534.1
      UniProtKB/Swiss-Prot
      A8MX41, O15417, Q96JH1, Q96K91
      UniProtKB/TrEMBL
      H9KVB4
      Related
      ENSP00000395538.1, ENST00000430969.6
      Conserved Domains (3) summary
      PHA03247
      Location:2291 → 2531
      PHA03247; large tegument protein UL36; Provisional
      cd04714
      Location:2816 → 2960
      BAH_BAHCC1; BAH, or Bromo Adjacent Homology domain, as present in mammalian BAHCC1 and similar proteins. BAHCC1 stands for BAH domain and coiled-coil containing 1. BAH domains are found in a variety of proteins playing roles in transcriptional silencing and the ...
      cd20469
      Location:2220 → 2286
      Tudor_TNRC18; Tudor domain found in trinucleotide repeat-containing gene 18 protein (TNRC18) and similar proteins

    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_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      5306811..5423834 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017012737.3 → XP_016868226.1  trinucleotide repeat-containing gene 18 protein isoform X9

      UniProtKB/TrEMBL
      H9KVB4

    2. XM_047420983.1 → XP_047276939.1  trinucleotide repeat-containing gene 18 protein isoform X9

    3. XM_017012728.3 → XP_016868217.1  trinucleotide repeat-containing gene 18 protein isoform X1

      UniProtKB/TrEMBL
      H9KVB4

    4. XM_047420978.1 → XP_047276934.1  trinucleotide repeat-containing gene 18 protein isoform X1

    5. XM_047420977.1 → XP_047276933.1  trinucleotide repeat-containing gene 18 protein isoform X1

    6. XM_017012736.2 → XP_016868225.1  trinucleotide repeat-containing gene 18 protein isoform X9

      UniProtKB/TrEMBL
      H9KVB4

    7. XM_047420976.1 → XP_047276932.1  trinucleotide repeat-containing gene 18 protein isoform X1

    8. XM_017012732.2 → XP_016868221.1  trinucleotide repeat-containing gene 18 protein isoform X6

      UniProtKB/TrEMBL
      H9KVB4

    9. XM_047420980.1 → XP_047276936.1  trinucleotide repeat-containing gene 18 protein isoform X4

    10. XM_017012730.2 → XP_016868219.1  trinucleotide repeat-containing gene 18 protein isoform X2

      UniProtKB/TrEMBL
      H9KVB4

    11. XM_047420981.1 → XP_047276937.1  trinucleotide repeat-containing gene 18 protein isoform X8

    12. XM_017012731.2 → XP_016868220.1  trinucleotide repeat-containing gene 18 protein isoform X5

      UniProtKB/TrEMBL
      H9KVB4

    13. XM_047420979.1 → XP_047276935.1  trinucleotide repeat-containing gene 18 protein isoform X3

      UniProtKB/Swiss-Prot
      A8MX41, O15417, Q96JH1, Q96K91
      Conserved Domains (3) summary
      PHA03247
      Location:2291 → 2531
      PHA03247; large tegument protein UL36; Provisional
      cd04714
      Location:2816 → 2960
      BAH_BAHCC1; BAH, or Bromo Adjacent Homology domain, as present in mammalian BAHCC1 and similar proteins. BAHCC1 stands for BAH domain and coiled-coil containing 1. BAH domains are found in a variety of proteins playing roles in transcriptional silencing and the ...
      cd20469
      Location:2220 → 2286
      Tudor_TNRC18; Tudor domain found in trinucleotide repeat-containing gene 18 protein (TNRC18) and similar proteins

    14. XM_017012734.3 → XP_016868223.1  trinucleotide repeat-containing gene 18 protein isoform X7

      UniProtKB/TrEMBL
      H9KVB4

    15. XM_017012739.3 → XP_016868228.1  trinucleotide repeat-containing gene 18 protein isoform X10

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      5424509..5541506 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054359257.1 → XP_054215232.1  trinucleotide repeat-containing gene 18 protein isoform X9

    2. XM_054359258.1 → XP_054215233.1  trinucleotide repeat-containing gene 18 protein isoform X9

    3. XM_054359248.1 → XP_054215223.1  trinucleotide repeat-containing gene 18 protein isoform X1

    4. XM_054359253.1 → XP_054215228.1  trinucleotide repeat-containing gene 18 protein isoform X6

    5. XM_054359252.1 → XP_054215227.1  trinucleotide repeat-containing gene 18 protein isoform X5

    6. XM_054359255.1 → XP_054215230.1  trinucleotide repeat-containing gene 18 protein isoform X8

    7. XM_054359250.1 → XP_054215225.1  trinucleotide repeat-containing gene 18 protein isoform X2

    8. XM_054359251.1 → XP_054215226.1  trinucleotide repeat-containing gene 18 protein isoform X4

    9. XM_054359249.1 → XP_054215224.1  trinucleotide repeat-containing gene 18 protein isoform X1

    10. XM_054359256.1 → XP_054215231.1  trinucleotide repeat-containing gene 18 protein isoform X9

    11. XM_054359254.1 → XP_054215229.1  trinucleotide repeat-containing gene 18 protein isoform X7

    12. XM_054359259.1 → XP_054215234.1  trinucleotide repeat-containing gene 18 protein isoform X10

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001013722.1: Suppressed sequence

      Description
      NM_001013722.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O15417.3 GenPept UniProtKB/Swiss-Prot:O15417

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