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    TNRC6B trinucleotide repeat containing adaptor 6B [ Homo sapiens (human) ]

    Gene ID: 23112, updated on 27-Nov-2024

    Summary

    Official Symbol
    TNRC6Bprovided by HGNC
    Official Full Name
    trinucleotide repeat containing adaptor 6Bprovided by HGNC
    Primary source
    HGNC:HGNC:29190
    See related
    Ensembl:ENSG00000100354 MIM:610740; AllianceGenome:HGNC:29190
    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
    GDSBA
    Summary
    Enables RNA binding activity. Involved in positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay; positive regulation of nuclear-transcribed mRNA poly(A) tail shortening; and regulatory ncRNA-mediated gene silencing. Acts upstream of with a positive effect on miRNA-mediated gene silencing by inhibition of translation. Predicted to be located in cytosol. Predicted to be active in P-body and nucleoplasm. Implicated in subserous uterine fibroid and uterine fibroid. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in testis (RPKM 3.9), thyroid (RPKM 2.3) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See TNRC6B in Genome Data Viewer
    Location:
    22q13.1
    Exon count:
    27
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (40044834..40335808)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (40516397..40807210)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (40440838..40731812)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124905155 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:40390673-40391306 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr22:40393419-40394024 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr22:40394025-40394630 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:40401347-40401848 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:40401849-40402348 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:40418684-40419184 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:40419185-40419685 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19079 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:40426725-40427244 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:40439529-40440176 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19080 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19081 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13767 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13766 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:40442874-40443092 Neighboring gene family with sequence similarity 83 member F Neighboring gene TNRC6B divergent transcript Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr22:40497428-40497948 Neighboring gene ribosomal protein L7 pseudogene 52 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19082 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:40591286-40591820 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:40591821-40592353 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19083 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:40624195-40624696 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:40633809-40634710 Neighboring gene uncharacterized LOC124905121 Neighboring gene MPRA-validated peak4496 silencer Neighboring gene ReSE screen-validated silencer GRCh37_chr22:40740204-40740376 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:40742019-40742532 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:40742533-40743046 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:40743047-40743559 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19084 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13769 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13770 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19086 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19085 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13771 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19087 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19088 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:40812395-40812894 Neighboring gene adenylosuccinate lyase Neighboring gene small G protein signaling modulator 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19089 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19090 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19091 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19092 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:40851734-40851957 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19093 Neighboring gene myocardin related transcription factor A Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:40867879-40868537 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:40894439-40894938 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:40906589-40907133 Neighboring gene MRTFA antisense RNA 1

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Global developmental delay with speech and behavioral abnormalities
    MedGen: C5543226 OMIM: 619243 GeneReviews: Not available
    not available

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated 2019-06-26)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated 2019-06-26)

    ClinGen Genome Curation PagePubMed

    EBI GWAS Catalog

    Description
    A genome-wide association study identifies three loci associated with susceptibility to uterine fibroids.
    EBI GWAS Catalog
    A genome-wide association study of northwestern Europeans involves the C-type natriuretic peptide signaling pathway in the etiology of human height variation.
    EBI GWAS Catalog
    A genome-wide search for loci interacting with known prostate cancer risk-associated genetic variants.
    EBI GWAS Catalog
    A meta-analysis of genome-wide association studies to identify prostate cancer susceptibility loci associated with aggressive and non-aggressive disease.
    EBI GWAS Catalog
    Genome-wide association study identifies multiple loci associated with both mammographic density and breast cancer risk.
    EBI GWAS Catalog
    Sequence variants at 22q13 are associated with prostate cancer risk.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • KIAA1093

    General protein information

    Preferred Names
    trinucleotide repeat-containing gene 6B protein
    Names
    trinucleotide repeat containing 6B

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001024843.2NP_001020014.1  trinucleotide repeat-containing gene 6B protein isoform 3

      See identical proteins and their annotated locations for NP_001020014.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) uses an alternate promoter, has a different translation start site, and is missing two in-frame coding exons compared to variant 1. This results in a shorter isoform (3) with a distinct N-terminus and lacking two internal protein segments compared to isoform 1.
      Source sequence(s)
      AL022238, BC028626, BE501815, BX647630, CA312515
      Consensus CDS
      CCDS46712.1
      Related
      ENSP00000306759.9, ENST00000301923.13
      Conserved Domains (3) summary
      cd12712
      Location:843925
      RRM_TNRC6B; RNA recognition motif in vertebrate trinucleotide repeat-containing gene 6B protein (TNRC6B)
      pfam10427
      Location:198308
      Ago_hook; Argonaute hook
      pfam16608
      Location:556841
      TNRC6-PABC_bdg; TNRC6-PABC binding domain
    2. NM_001162501.2NP_001155973.1  trinucleotide repeat-containing gene 6B protein isoform 1

      See identical proteins and their annotated locations for NP_001155973.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AK294519, AL022238, AL831862, BQ009349, BU584176, BX537577, BX952326, CA312515, DB147781
      Consensus CDS
      CCDS54533.1
      UniProtKB/Swiss-Prot
      B0QY73, B0QY78, B4DGC0, Q5TH52, Q8TBX2, Q9UPQ9
      Related
      ENSP00000401946.2, ENST00000454349.7
      Conserved Domains (3) summary
      cd12712
      Location:16471729
      RRM_TNRC6B; RNA recognition motif in vertebrate trinucleotide repeat-containing gene 6B protein (TNRC6B)
      pfam10427
      Location:9451055
      Ago_hook; Argonaute hook
      pfam16608
      Location:13601645
      TNRC6-PABC_bdg; TNRC6-PABC binding domain
    3. NM_015088.3NP_055903.2  trinucleotide repeat-containing gene 6B protein isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) is missing two in-frame coding exons compared to variant 1, resulting in a shorter isoform (2) lacking two internal protein segments compared to isoform 1.
      Source sequence(s)
      AB029016, AL022238, BC028626, BG942870, CA312515
      Consensus CDS
      CCDS46713.1
      Related
      ENSP00000338371.8, ENST00000335727.13
      Conserved Domains (3) summary
      cd12712
      Location:15371619
      RRM_TNRC6B; RNA recognition motif in vertebrate trinucleotide repeat-containing gene 6B protein (TNRC6B)
      pfam10427
      Location:8911002
      Ago_hook; Argonaute hook
      pfam16608
      Location:12501535
      TNRC6-PABC_bdg; TNRC6-PABC binding domain

    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_000022.11 Reference GRCh38.p14 Primary Assembly

      Range
      40044834..40335808
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060946.1 Alternate T2T-CHM13v2.0

      Range
      40516397..40807210
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)