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

Gene ID: 23112, updated on 21-Dec-2019

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
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
Expression
Ubiquitous expression in testis (RPKM 3.9), thyroid (RPKM 2.3) and 25 other tissues See more
Orthologs

Genomic context

See TNRC6B in Genome Data Viewer
Location:
22q13.1
Exon count:
27
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 22 NC_000022.11 (40044817..40335808)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (40440046..40731812)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene translation machinery-associated protein 7 pseudogene Neighboring gene GRB2 related adaptor protein 2 Neighboring gene uncharacterized LOC114841040 Neighboring gene family with sequence similarity 83 member F Neighboring gene ribosomal protein L7 pseudogene 52 Neighboring gene uncharacterized LOC107985538 Neighboring gene adenylosuccinate lyase Neighboring gene small G protein signaling modulator 3 Neighboring gene myocardin related transcription factor A 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

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

NHGRI GWAS Catalog

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA1093

Gene Ontology Provided by GOA

Function Evidence Code Pubs
RNA binding HDA PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
P-body IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
nucleoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

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

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_001024843.1NP_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
    UniProtKB/Swiss-Prot
    Q9UPQ9
    UniProtKB/TrEMBL
    A0A024R1N5
    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
    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
    UniProtKB/Swiss-Prot
    Q9UPQ9
    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: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p13 Primary Assembly

    Range
    40044817..40335808
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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