TCF20 (transcription factor 20)

2014-08-01 Dessen P Affiliation

Identity

HGNC

TCF20

LOCATION

22q13.2

LOCUSID

6942

ALIAS

AR1,DDVIBA,SPBP,TCF-20

FUSION GENES

Show Gene Fusions

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

Gene ID	Transcript ID	Uniprot
ENSG00000100207	ENST00000335626	Q9UGU0
ENSG00000100207	ENST00000359486	Q9UGU0
ENSG00000100207	ENST00000359486	W5ZR30
ENSG00000100207	ENST00000404876	A9JX13
ENSG00000100207	ENST00000515426	I3L1M7

Expression (GTEx)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Protein levels (Protein atlas)

Not detected

Low

Medium

High

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/tcf20-(transcription-factor-20)