Identity
HGNC
LOCATION
22q13.2
LOCUSID
ALIAS
AR1,DDVIBA,SPBP,TCF-20
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 6942
MIM: 603107
HGNC: 11631
Ensembl: ENSG00000100207
Variants:
dbSNP: 6942
ClinVar: 6942
TCGA: ENSG00000100207
COSMIC: TCF20
RNA/Proteins
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 34904221 | 2022 | Rare and de novo duplications containing TCF20 are associated with a neurodevelopmental disorder. | 4 |
| 36593604 | 2022 | Diagnosis and clinical presentation of two individuals with a rare TCF20 pathogenic variant. | 0 |
| 34904221 | 2022 | Rare and de novo duplications containing TCF20 are associated with a neurodevelopmental disorder. | 4 |
| 36593604 | 2022 | Diagnosis and clinical presentation of two individuals with a rare TCF20 pathogenic variant. | 0 |
| 30739909 | 2019 | Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature. | 14 |
| 30819258 | 2019 | De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome. | 17 |
| 30739909 | 2019 | Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature. | 14 |
| 30819258 | 2019 | De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome. | 17 |
| 27436265 | 2016 | De novo nonsense and frameshift variants of TCF20 in individuals with intellectual disability and postnatal overgrowth. | 13 |
| 27436265 | 2016 | De novo nonsense and frameshift variants of TCF20 in individuals with intellectual disability and postnatal overgrowth. | 13 |
| 24416372 | 2014 | SPBP is a sulforaphane induced transcriptional coactivator of NRF2 regulating expression of the autophagy receptor p62/SQSTM1. | 20 |
| 25228304 | 2014 | De novo and rare inherited mutations implicate the transcriptional coregulator TCF20/SPBP in autism spectrum disorder. | 21 |
| 24416372 | 2014 | SPBP is a sulforaphane induced transcriptional coactivator of NRF2 regulating expression of the autophagy receptor p62/SQSTM1. | 20 |
| 25228304 | 2014 | De novo and rare inherited mutations implicate the transcriptional coregulator TCF20/SPBP in autism spectrum disorder. | 21 |
| 24205348 | 2013 | A phylogenetic study of SPBP and RAI1: evolutionary conservation of chromatin binding modules. | 12 |
Citation
Dessen P
TCF20 (transcription factor 20)
Atlas Genet Cytogenet Oncol Haematol. 2014-08-01
Online version: http://atlasgeneticsoncology.org/gene/54694/chromosome-explorer/meetings/
