TNRC6B Chromosome 22
Trinucleotide repeat containing adaptor 6B
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What This Gene Does
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, Jul 2025]
Gene Info
Gene Group
"Armadillo like helical domain containing|TNRC6 adaptor family"
Locus Type
gene with protein product
Location
22q13.1
Ensembl
ENSG00000100354
Associated Conditions (6)
Autism spectrum disorder
Global developmental delay with speech and behavioral abnormalities
Inborn genetic diseases
Neurodevelopmental delay
TNRC6B-related disorder
Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies
Key Variants
RS146996627
association
Autism spectrum disorder, Autism spectrum disorder
Health Risk
RS201057205
Conflicting classifications of pathogenicity
Global developmental delay with speech and behavioral abnormalities, Global developmental delay with speech and behavioral abnormalities
Health Risk
RS2070541197
Conflicting classifications of pathogenicity
Global developmental delay with speech and behavioral abnormalities, Inborn genetic diseases, Global developmental delay with speech and behavioral abnormalities
Health Risk
RS2146512032
Conflicting classifications of pathogenicity
Global developmental delay with speech and behavioral abnormalities, Global developmental delay with speech and behavioral abnormalities
Health Risk
RS2518045920
Conflicting classifications of pathogenicity
Inborn genetic diseases, Global developmental delay with speech and behavioral abnormalities, Inborn genetic diseases
Health Risk
RS73165082
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS765989873
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS2071205689
Likely pathogenic
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS2146500943
Likely pathogenic
Neurodevelopmental delay, Neurodevelopmental delay
Health Risk
RS2517984979
Likely pathogenic
Global developmental delay with speech and behavioral abnormalities, Global developmental delay with speech and behavioral abnormalities
Health Risk
RS2517986713
Likely pathogenic
TNRC6B-related disorder, TNRC6B-related disorder
Health Risk
RS2517986860
Likely pathogenic
Global developmental delay with speech and behavioral abnormalities, Global developmental delay with speech and behavioral abnormalities
Health Risk
All Variants (46)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS146996627 | Health Risk | association | Autism spectrum disorder, Autism spectrum disorder |
| RS201057205 | Health Risk | Conflicting classifications of pathogenicity | Global developmental delay with speech and behavioral abnormalities, Global developmental delay with speech and behavioral abnormalities |
| RS2070541197 | Health Risk | Conflicting classifications of pathogenicity | Global developmental delay with speech and behavioral abnormalities, Inborn genetic diseases, Global developmental delay with speech and behavioral abnormalities |
| RS2146512032 | Health Risk | Conflicting classifications of pathogenicity | Global developmental delay with speech and behavioral abnormalities, Global developmental delay with speech and behavioral abnormalities |
| RS2518045920 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Global developmental delay with speech and behavioral abnormalities, Inborn genetic diseases |
| RS73165082 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS765989873 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS2071205689 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2146500943 | Health Risk | Likely pathogenic | Neurodevelopmental delay, Neurodevelopmental delay |
| RS2517984979 | Health Risk | Likely pathogenic | Global developmental delay with speech and behavioral abnormalities, Global developmental delay with speech and behavioral abnormalities |
| RS2517986713 | Health Risk | Likely pathogenic | TNRC6B-related disorder, TNRC6B-related disorder |
| RS2517986860 | Health Risk | Likely pathogenic | Global developmental delay with speech and behavioral abnormalities, Global developmental delay with speech and behavioral abnormalities |
| RS2517996716 | Health Risk | Likely pathogenic | Global developmental delay with speech and behavioral abnormalities, Global developmental delay with speech and behavioral abnormalities |
| RS2518004225 | Health Risk | Likely pathogenic | Global developmental delay with speech and behavioral abnormalities, Global developmental delay with speech and behavioral abnormalities |
| RS2518029376 | Health Risk | Likely pathogenic | Global developmental delay with speech and behavioral abnormalities, Global developmental delay with speech and behavioral abnormalities |
| RS2518046138 | Health Risk | Likely pathogenic | Global developmental delay with speech and behavioral abnormalities, Global developmental delay with speech and behavioral abnormalities |
| RS2518047038 | Health Risk | Likely pathogenic | Global developmental delay with speech and behavioral abnormalities, Global developmental delay with speech and behavioral abnormalities |
| RS1355280060 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS201621003 | Health Risk | Pathogenic | — |
| RS2070466353 | Health Risk | Pathogenic | — |
| RS2071009325 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2146471012 | Health Risk | Pathogenic | Global developmental delay with speech and behavioral abnormalities, Global developmental delay with speech and behavioral abnormalities |
| RS2146499114 | Health Risk | Pathogenic | — |
| RS2146500403 | Health Risk | Pathogenic | Global developmental delay with speech and behavioral abnormalities, Global developmental delay with speech and behavioral abnormalities |
| RS2146500556 | Health Risk | Pathogenic | — |
| RS2146501061 | Health Risk | Pathogenic | — |
| RS2146518792 | Health Risk | Pathogenic | Global developmental delay with speech and behavioral abnormalities, Global developmental delay with speech and behavioral abnormalities |
| RS2146548512 | Health Risk | Pathogenic | Global developmental delay with speech and behavioral abnormalities, Global developmental delay with speech and behavioral abnormalities |
| RS2146565741 | Health Risk | Pathogenic | Global developmental delay with speech and behavioral abnormalities, Global developmental delay with speech and behavioral abnormalities |
| RS2146569465 | Health Risk | Pathogenic | Global developmental delay with speech and behavioral abnormalities, Global developmental delay with speech and behavioral abnormalities |
| RS2146570387 | Health Risk | Pathogenic | — |
| RS2517980289 | Health Risk | Pathogenic | — |
| RS2517985090 | Health Risk | Pathogenic | Global developmental delay with speech and behavioral abnormalities, Global developmental delay with speech and behavioral abnormalities |
| RS2517986894 | Health Risk | Pathogenic | Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies, Global developmental delay with speech and behavioral abnormalities, Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies |
| RS2517987250 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2517988934 | Health Risk | Pathogenic | Autism spectrum disorder, Autism spectrum disorder |
| RS2518000703 | Health Risk | Pathogenic | Global developmental delay with speech and behavioral abnormalities, Global developmental delay with speech and behavioral abnormalities |
| RS2518004353 | Health Risk | Pathogenic | Global developmental delay with speech and behavioral abnormalities, Global developmental delay with speech and behavioral abnormalities |
| RS2518042768 | Health Risk | Pathogenic | — |
| RS376009962 | Health Risk | Pathogenic | Global developmental delay with speech and behavioral abnormalities, Global developmental delay with speech and behavioral abnormalities |
| RS750268759 | Health Risk | Pathogenic | Global developmental delay with speech and behavioral abnormalities, Global developmental delay with speech and behavioral abnormalities |
| RS758228613 | Health Risk | Pathogenic | Global developmental delay with speech and behavioral abnormalities, Global developmental delay with speech and behavioral abnormalities |
| RS774374347 | Health Risk | Pathogenic | Global developmental delay with speech and behavioral abnormalities, Global developmental delay with speech and behavioral abnormalities |
| RS1191287768 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Global developmental delay with speech and behavioral abnormalities, Inborn genetic diseases |
| RS200598254 | Health Risk | Pathogenic/Likely pathogenic | Neurodevelopmental delay, Inborn genetic diseases, Neurodevelopmental delay |
| RS763492540 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |