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TNRC6A trinucleotide repeat containing adaptor 6A [ Homo sapiens (human) ]

Gene ID: 27327, updated on 15-Apr-2019

Summary

Official Symbol
TNRC6Aprovided by HGNC
Official Full Name
trinucleotide repeat containing adaptor 6Aprovided by HGNC
Primary source
HGNC:HGNC:11969
See related
Ensembl:ENSG00000090905 MIM:610739
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
GW1; FAME6; GW182; TNRC6; CAGH26
Summary
This gene encodes a member of the trinucleotide repeat containing 6 protein family. The protein functions in post-transcriptional gene silencing through the RNA interference (RNAi) and microRNA pathways. The protein associates with messenger RNAs and Argonaute proteins in cytoplasmic bodies known as GW-bodies or P-bodies. Inhibiting expression of this gene delocalizes other GW-body proteins and impairs RNAi and microRNA-induced gene silencing. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in ovary (RPKM 11.5), endometrium (RPKM 10.0) and 25 other tissues See more
Orthologs

Genomic context

See TNRC6A in Genome Data Viewer
Location:
16p12.1
Exon count:
28
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 16 NC_000016.10 (24610209..24826227)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (24741028..24837548)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene RB binding protein 6, ubiquitin ligase Neighboring gene acyl-CoA-binding domain-containing protein 7-like Neighboring gene long intergenic non-protein coding RNA 1567 Neighboring gene uncharacterized LOC107984825 Neighboring gene solute carrier family 5 member 11

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 FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
EPILEPSY, FAMILIAL ADULT MYOCLONIC, 6
MedGen: CN252655 OMIM: 618074 GeneReviews: Not available
not available

NHGRI GWAS Catalog

Description
Exploring genome-wide - dietary heme iron intake interactions and the risk of type 2 diabetes.
NHGRI GWA Catalog

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Nef nef HIV-1 Nef inhibits the sorting of GW182 into exosomes, leading to affect assembly and turnover of the miRNA-induced silencing complex (miRISC) PubMed

Go to the HIV-1, Human Interaction Database

Pathways from BioSystems

  • Adaptive Immune System, organism-specific biosystem (from REACTOME)
    Adaptive Immune System, organism-specific biosystemAdaptive immunity refers to antigen-specific immune response efficiently involved in clearing the pathogens. The adaptive immune system is comprised of B and T lymphocytes that express receptors with...
  • Beta-catenin independent WNT signaling, organism-specific biosystem (from REACTOME)
    Beta-catenin independent WNT signaling, organism-specific biosystemHumans and mice have 19 identified WNT proteins that were originally classified as either 'canonical' or 'non-canonical' depending upon whether they were able to transform the mouse mammary epithelia...
  • Ca2+ pathway, organism-specific biosystem (from REACTOME)
    Ca2+ pathway, organism-specific biosystemA number of so called non-canonical WNT ligands have been shown to promote intracellular calcium release upon FZD binding. This beta-catenin-independent WNT pathway acts through heterotrimeric G pro...
  • Cellular Senescence, organism-specific biosystem (from REACTOME)
    Cellular Senescence, organism-specific biosystemCellular senescence involves irreversible growth arrest accompanied by phenotypic changes such as enlarged morphology, reorganization of chromatin through formation of senescence-associated heterochr...
  • Cellular responses to stress, organism-specific biosystem (from REACTOME)
    Cellular responses to stress, organism-specific biosystemCells are subject to external molecular and physical stresses such as foreign molecules that perturb metabolic or signaling processes, and changes in temperature or pH. The ability of cells and tissu...
  • DAP12 interactions, organism-specific biosystem (from REACTOME)
    DAP12 interactions, organism-specific biosystemDNAX activation protein of 12kDa (DAP12) is an immunoreceptor tyrosine-based activation motif (ITAM)-bearing adapter molecule that transduces activating signals in natural killer (NK) and myeloid cel...
  • DAP12 signaling, organism-specific biosystem (from REACTOME)
    DAP12 signaling, organism-specific biosystemIn response to receptor ligation, the tyrosine residues in DAP12's immunoreceptor tyrosine-based activation motif (ITAM) are phosphorylated by Src family kinases. These phosphotyrosines form the dock...
  • Downstream signal transduction, organism-specific biosystem (from REACTOME)
    Downstream signal transduction, organism-specific biosystemThe role of autophosphorylation sites on PDGF receptors are to provide docking sites for downstream signal transduction molecules which contain SH2 domains. The SH2 domain is a conserved motif of aro...
  • Downstream signaling events of B Cell Receptor (BCR), organism-specific biosystem (from REACTOME)
    Downstream signaling events of B Cell Receptor (BCR), organism-specific biosystemSecond messengers (calcium, diacylglycerol, inositol 1,4,5-trisphosphate, and phosphatidyinositol 3,4,5-trisphosphate) trigger signaling pathways: NF-kappaB is activated via protein kinase C beta, RA...
  • Fc epsilon receptor (FCERI) signaling, organism-specific biosystem (from REACTOME)
    Fc epsilon receptor (FCERI) signaling, organism-specific biosystemMast cells (MC) are distributed in tissues throughout the human body and have long been recognized as key cells of type I hypersensitivity reactions. They also play important roles in inflammatory an...
  • GAB1 signalosome, organism-specific biosystem (from REACTOME)
    GAB1 signalosome, organism-specific biosystemGAB1 is recruited to the activated EGFR indirectly, through GRB2. GAB1 acts as an adaptor protein that enables formation of an active PIK3, through recruitment of PIK3 regulatory subunit PIK3R1 (also...
  • Gene Expression, organism-specific biosystem (from REACTOME)
    Gene Expression, organism-specific biosystemGene Expression covers the pathways by which genomic DNA is transcribed to yield RNA, the regulation of these transcription processes, and the pathways by which newly-made RNA Transcripts are process...
  • Gene Silencing by RNA, organism-specific biosystem (from REACTOME)
    Gene Silencing by RNA, organism-specific biosystemIn this module, the biology of various types of regulatory non-coding RNAs are described. Currently, biogenesis and functions of small interfering RNAs (siRNAs) and microRNAs are annotated.
  • Generic Transcription Pathway, organism-specific biosystem (from REACTOME)
    Generic Transcription Pathway, organism-specific biosystemOVERVIEW OF TRANSCRIPTION REGULATION: Detailed studies of gene transcription regulation in a wide variety of eukaryotic systems has revealed the general principles and mechanisms by which cell- or t...
  • Immune System, organism-specific biosystem (from REACTOME)
    Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
  • Innate Immune System, organism-specific biosystem (from REACTOME)
    Innate Immune System, organism-specific biosystemInnate immunity encompases the nonspecific part of immunity tha are part of an individual's natural biologic makeup
  • MAPK family signaling cascades, organism-specific biosystem (from REACTOME)
    MAPK family signaling cascades, organism-specific biosystemThe mitogen activated protein kinases (MAPKs) are a family of conserved protein serine threonine kinases that respond to varied extracellular stimuli to activate intracellular processes including gen...
  • MAPK6/MAPK4 signaling, organism-specific biosystem (from REACTOME)
    MAPK6/MAPK4 signaling, organism-specific biosystemMAPK6 and MAPK4 (also known as ERK3 and ERK4) are vertebrate-specific atypical MAP kinases. Atypical MAPK are less well characterized than their conventional counterparts, and are generally classifi...
  • NGF signalling via TRKA from the plasma membrane, organism-specific biosystem (from REACTOME)
    NGF signalling via TRKA from the plasma membrane, organism-specific biosystemTrk receptors signal from the plasma membrane and from intracellular membranes, particularly from early endosomes. Signalling from the plasma membrane is fast but transient; signalling from endosomes...
  • Oncogene Induced Senescence, organism-specific biosystem (from REACTOME)
    Oncogene Induced Senescence, organism-specific biosystemOncogene-induced senescence is triggered by high level of RAS/RAF/MAPK signaling that can be caused, for example, by oncogenic mutations in RAS or RAF proteins, or by oncogenic mutations in growth fa...
  • Oxidative Stress Induced Senescence, organism-specific biosystem (from REACTOME)
    Oxidative Stress Induced Senescence, organism-specific biosystemOxidative stress, caused by increased concentration of reactive oxygen species (ROS) in the cell, can happen as a consequence of mitochondrial dysfunction induced by the oncogenic RAS (Moiseeva et al...
  • PI3K/AKT activation, organism-specific biosystem (from REACTOME)
    PI3K/AKT activation, organism-specific biosystemPI3K/AKT signalling is a major regulator of neuron survival. It blocks cell death by both impinging on the cytoplasmic cell death machinery and by regulating the expression of genes involved in cell...
  • PIP3 activates AKT signaling, organism-specific biosystem (from REACTOME)
    PIP3 activates AKT signaling, organism-specific biosystemSignaling by AKT is one of the key outcomes of receptor tyrosine kinase (RTK) activation. AKT is activated by the cellular second messenger PIP3, a phospholipid that is generated by PI3K. In ustimula...
  • Post-transcriptional silencing by small RNAs, organism-specific biosystem (from REACTOME)
    Post-transcriptional silencing by small RNAs, organism-specific biosystemSmall RNAs act with components of the RNA-induced silencing complex (RISC) to post-transcriptionally repress expression of mRNAs (reviewed in Nowotny and Yang 2009, Chua et al. 2009). Two mechanisms ...
  • Pre-NOTCH Expression and Processing, organism-specific biosystem (from REACTOME)
    Pre-NOTCH Expression and Processing, organism-specific biosystemIn humans and other mammals the NOTCH gene family has four members, NOTCH1, NOTCH2, NOTCH3 and NOTCH4, encoded on four different chromosomes. Their transcription is developmentally regulated and tiss...
  • Pre-NOTCH Transcription and Translation, organism-specific biosystem (from REACTOME)
    Pre-NOTCH Transcription and Translation, organism-specific biosystemIn humans, the NOTCH protein family has four members: NOTCH1, NOTCH2, NOTCH3 and NOTCH4. NOTCH1 protein was identified first, as the product of a chromosome 9 gene translocated in T-cell acute lympho...
  • Role of LAT2/NTAL/LAB on calcium mobilization, organism-specific biosystem (from REACTOME)
    Role of LAT2/NTAL/LAB on calcium mobilization, organism-specific biosystemThe lipid raft resident adaptor molecules LAT1 and Non-T cell activation linker (NTAL), also known as linker for activation of B cells (LAB)/LAT2 are known participants in the regulation of mast cell...
  • Signal Transduction, organism-specific biosystem (from REACTOME)
    Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
  • Signaling by EGFR, organism-specific biosystem (from REACTOME)
    Signaling by EGFR, organism-specific biosystemThe epidermal growth factor receptor (EGFR) is one member of the ERBB family of transmembrane glycoprotein tyrosine receptor kinases (RTK). Binding of EGFR to its ligands induces conformational chang...
  • Signaling by NOTCH, organism-specific biosystem (from REACTOME)
    Signaling by NOTCH, organism-specific biosystemThe Notch Signaling Pathway (NSP) is a highly conserved pathway for cell-cell communication. NSP is involved in the regulation of cellular differentiation, proliferation, and specification. For exam...
  • Signaling by PDGF, organism-specific biosystem (from REACTOME)
    Signaling by PDGF, organism-specific biosystemPlatelet-derived Growth Factor (PDGF) is a potent stimulator of growth and motility of connective tissue cells such as fibroblasts and smooth muscle cells as well as other cells such as capillary end...
  • Signaling by SCF-KIT, organism-specific biosystem (from REACTOME)
    Signaling by SCF-KIT, organism-specific biosystemStem cell factor (SCF) is a growth factor with membrane bound and soluble forms. It is expressed by fibroblasts and endothelial cells throughout the body, promoting proliferation, migration, survival...
  • Signaling by Wnt, organism-specific biosystem (from REACTOME)
    Signaling by Wnt, organism-specific biosystemWNT signaling pathways control a wide range of developmental and adult process in metozoans including cell proliferation, cell fate decisions, cell polarity and stem cell maintenance (reviewed in Sai...
  • Signaling by the B Cell Receptor (BCR), organism-specific biosystem (from REACTOME)
    Signaling by the B Cell Receptor (BCR), organism-specific biosystemMature B cells express IgM and IgD immunoglobulins which are complexed at the plasma membrane with Ig-alpha (CD79A, MB-1) and Ig-beta (CD79B, B29) to form the B cell receptor (BCR) (Fu et al. 1974, F...
  • Signalling by NGF, organism-specific biosystem (from REACTOME)
    Signalling by NGF, organism-specific biosystemNeurotrophins (NGF, BDNF, NT-3, NT-4/5) play pivotal roles in survival, differentiation, and plasticity of neurons in the peripheral and central nervous system. They are produced, and secreted in mi...
  • TP53 Regulates Metabolic Genes, organism-specific biosystem (from REACTOME)
    TP53 Regulates Metabolic Genes, organism-specific biosystemWhile the p53 tumor suppressor protein (TP53) is known to inhibit cell growth by inducing apoptosis, senescence and cell cycle arrest, recent studies have found that p53 is also able to influence cel...
  • Transcriptional Regulation by TP53, organism-specific biosystem (from REACTOME)
    Transcriptional Regulation by TP53, organism-specific biosystemThe tumor suppressor TP53 (encoded by the gene p53) is a transcription factor. Under stress conditions, it recognizes specific responsive DNA elements and thus regulates the transcription of many gen...
  • Transcriptional regulation by small RNAs, organism-specific biosystem (from REACTOME)
    Transcriptional regulation by small RNAs, organism-specific biosystemRecent evidence indicates that small RNAs participate in transcriptional regulation in addition to post-transcriptional silencing. Components of the RNAi machinery (ARGONAUTE1 (AGO1, EIF2C1), AGO2 (E...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ22043, KIAA1460, MGC75384, DKFZp666E117

Gene Ontology Provided by GOA

Function Evidence Code Pubs
RNA binding HDA PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
Wnt signaling pathway, calcium modulating pathway TAS
Traceable Author Statement
more info
 
cellular response to starvation IEA
Inferred from Electronic Annotation
more info
 
gene silencing by miRNA IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
gene silencing by miRNA IMP
Inferred from Mutant Phenotype
more info
PubMed 
miRNA mediated inhibition of translation IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of gene expression TAS
Traceable Author Statement
more info
 
positive regulation of gene expression TAS
Traceable Author Statement
more info
 
positive regulation of nuclear-transcribed mRNA poly(A) tail shortening IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
posttranscriptional gene silencing by RNA TAS
Traceable Author Statement
more info
 
regulation of gene silencing by miRNA TAS
Traceable Author Statement
more info
 
regulation of megakaryocyte differentiation TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
Golgi apparatus IDA
Inferred from Direct Assay
more info
 
P-body IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
P-body IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 
micro-ribonucleoprotein complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
micro-ribonucleoprotein complex IDA
Inferred from Direct Assay
more info
PubMed 
nucleoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
trinucleotide repeat-containing gene 6A protein
Names
CAG repeat protein 26
CTD-2540M10.1
EDIE
EMSY interactor protein
GW182 autoantigen
glycine-tryptophan protein of 182 kDa
trinucleotide repeat containing 6A

NCBI Reference Sequences (RefSeq)

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_001330520.2NP_001317449.1  trinucleotide repeat-containing gene 6A protein isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 3' coding region, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
    Source sequence(s)
    AC002565, AC008731, BU743266
    Consensus CDS
    CCDS81959.1
    UniProtKB/Swiss-Prot
    Q8NDV7
    Related
    ENSP00000326900.7, ENST00000315183.11
    Conserved Domains (4) summary
    cd12711
    Location:17311813
    RRM_TNRC6A; RNA recognition motif in vertebrate GW182 autoantigen
    pfam10427
    Location:10691200
    Ago_hook; Argonaute hook
    pfam12938
    Location:12801411
    M_domain; M domain of GW182
    pfam16608
    Location:14551730
    TNRC6-PABC_bdg; TNRC6-PABC binding domain
  2. NM_001351850.1NP_001338779.1  trinucleotide repeat-containing gene 6A protein isoform 3

    Status: REVIEWED

    Source sequence(s)
    AC008731, AC010321, BU743266
    Conserved Domains (4) summary
    cd12711
    Location:17401822
    RRM_TNRC6A; RNA recognition motif in vertebrate GW182 autoantigen
    pfam10427
    Location:10841209
    Ago_hook; Argonaute hook
    pfam12938
    Location:12651373
    M_domain; M domain of GW182
    pfam16608
    Location:14641727
    TNRC6-PABC_bdg; TNRC6-PABC binding domain
  3. NM_014494.4NP_055309.2  trinucleotide repeat-containing gene 6A protein isoform 1

    See identical proteins and their annotated locations for NP_055309.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC002565, AC008731, AJ492221, BE158958, BU743266
    Consensus CDS
    CCDS10624.2
    UniProtKB/Swiss-Prot
    Q8NDV7
    Related
    ENSP00000379144.3, ENST00000395799.8
    Conserved Domains (4) summary
    cd12711
    Location:17801862
    RRM_TNRC6A; RNA recognition motif in vertebrate GW182 autoantigen
    pfam10427
    Location:10691200
    Ago_hook; Argonaute hook
    pfam12938
    Location:12951413
    M_domain; M domain of GW182
    pfam16608
    Location:15041779
    TNRC6-PABC_bdg; TNRC6-PABC binding domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p12 Primary Assembly

    Range
    24610209..24826227
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024450231.1XP_024305999.1  trinucleotide repeat-containing gene 6A protein isoform X1

    Conserved Domains (4) summary
    cd12711
    Location:17891871
    RRM_TNRC6A; RNA recognition motif in vertebrate GW182 autoantigen
    pfam10427
    Location:10841209
    Ago_hook; Argonaute hook
    pfam12938
    Location:13041422
    M_domain; M domain of GW182
    pfam16608
    Location:15131776
    TNRC6-PABC_bdg; TNRC6-PABC binding domain
  2. XM_017023145.2XP_016878634.1  trinucleotide repeat-containing gene 6A protein isoform X3

  3. XM_017023150.2XP_016878639.1  trinucleotide repeat-containing gene 6A protein isoform X7

  4. XM_024450232.1XP_024306000.1  trinucleotide repeat-containing gene 6A protein isoform X6

    Conserved Domains (4) summary
    cd12711
    Location:17291811
    RRM_TNRC6A; RNA recognition motif in vertebrate GW182 autoantigen
    pfam10427
    Location:10841198
    Ago_hook; Argonaute hook
    pfam12938
    Location:12541362
    M_domain; M domain of GW182
    pfam16608
    Location:14531716
    TNRC6-PABC_bdg; TNRC6-PABC binding domain
  5. XM_017023148.2XP_016878637.1  trinucleotide repeat-containing gene 6A protein isoform X5

  6. XM_017023144.2XP_016878633.1  trinucleotide repeat-containing gene 6A protein isoform X2

  7. XM_017023152.2XP_016878641.1  trinucleotide repeat-containing gene 6A protein isoform X9

  8. XM_024450233.1XP_024306001.1  trinucleotide repeat-containing gene 6A protein isoform X8

    Conserved Domains (3) summary
    cd12711
    Location:16811763
    RRM_TNRC6A; RNA recognition motif in vertebrate GW182 autoantigen
    pfam12938
    Location:12061314
    M_domain; M domain of GW182
    pfam16608
    Location:14051668
    TNRC6-PABC_bdg; TNRC6-PABC binding domain
  9. XM_017023146.1XP_016878635.1  trinucleotide repeat-containing gene 6A protein isoform X4

  10. XM_017023153.1XP_016878642.1  trinucleotide repeat-containing gene 6A protein isoform X10

    UniProtKB/Swiss-Prot
    Q8NDV7
    Conserved Domains (4) summary
    cd12711
    Location:15271609
    RRM_TNRC6A; RNA recognition motif in vertebrate GW182 autoantigen
    pfam10427
    Location:816947
    Ago_hook; Argonaute hook
    pfam12938
    Location:10421160
    M_domain; M domain of GW182
    pfam16608
    Location:12511526
    TNRC6-PABC_bdg; TNRC6-PABC binding domain
  11. XM_017023154.1XP_016878643.1  trinucleotide repeat-containing gene 6A protein isoform X11

  12. XM_005255257.4XP_005255314.1  trinucleotide repeat-containing gene 6A protein isoform X10

    See identical proteins and their annotated locations for XP_005255314.1

    UniProtKB/Swiss-Prot
    Q8NDV7
    Conserved Domains (4) summary
    cd12711
    Location:15271609
    RRM_TNRC6A; RNA recognition motif in vertebrate GW182 autoantigen
    pfam10427
    Location:816947
    Ago_hook; Argonaute hook
    pfam12938
    Location:10421160
    M_domain; M domain of GW182
    pfam16608
    Location:12511526
    TNRC6-PABC_bdg; TNRC6-PABC binding domain
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