TARDBP (TAR DNA binding protein)

2010-10-01 Affiliation

Identity

HGNC

TARDBP

LOCATION

1p36.22

LOCUSID

23435

ALIAS

ALS10,TDP-43

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: 23435
MIM: 605078
HGNC: 11571
Ensembl: ENSG00000120948

Variants:

dbSNP: 23435
ClinVar: 23435
TCGA: ENSG00000120948
COSMIC: TARDBP

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000120948	ENST00000240185	Q13148
ENSG00000120948	ENST00000240185	A0A024R4E2
ENSG00000120948	ENST00000315091	B1AKP7
ENSG00000120948	ENST00000439080	A0A0A0MSV7
ENSG00000120948	ENST00000472476	K7EJ99
ENSG00000120948	ENST00000473118	K7EJM5
ENSG00000120948	ENST00000473869	G3V162
ENSG00000120948	ENST00000476201	K7EN94
ENSG00000120948	ENST00000477447	K7EL26
ENSG00000120948	ENST00000496840	K7ENM9
ENSG00000120948	ENST00000610369	A0A087WZC9
ENSG00000120948	ENST00000611963	A0A087WXV3
ENSG00000120948	ENST00000614494	A0A087WZM1
ENSG00000120948	ENST00000616545	A0A087X260
ENSG00000120948	ENST00000617172	A0A087WV68
ENSG00000120948	ENST00000619555	A0A087WW61
ENSG00000120948	ENST00000620505	A0A087WVX6
ENSG00000120948	ENST00000620632	A0A087WX67
ENSG00000120948	ENST00000621573	A0A087WTG4
ENSG00000120948	ENST00000621715	A0A087WX29
ENSG00000120948	ENST00000621790	A0A087WYY0
ENSG00000120948	ENST00000622057	A0A087WXQ5
ENSG00000120948	ENST00000629725	G3V162
ENSG00000120948	ENST00000638264	A0A1W2PNU8
ENSG00000120948	ENST00000639083	Q13148
ENSG00000120948	ENST00000639083	A0A024R4E2
ENSG00000120948	ENST00000639599	B1AKP7
ENSG00000120948	ENST00000649624	A0A0A0N0M3

Expression (GTEx)

100

150

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
17023659	2006	Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis.	1762
18309045	2008	TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis.	831
18372902	2008	TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis.	545
21358640	2011	Characterizing the RNA targets and position-dependent splicing regulation by TDP-43.	383
19465477	2009	TDP-43 is intrinsically aggregation-prone, and amyotrophic lateral sclerosis-linked mutations accelerate aggregation and increase toxicity.	268
20864052	2010	TDP-43 and FUS in amyotrophic lateral sclerosis and frontotemporal dementia.	263
23023293	2012	Divergent roles of ALS-linked proteins FUS/TLS and TDP-43 intersect in processing long pre-mRNAs.	261
18396105	2008	TARDBP mutations in amyotrophic lateral sclerosis with TDP-43 neuropathology: a genetic and histopathological analysis.	257
19833869	2009	TDP-43 mutant transgenic mice develop features of ALS and frontotemporal lobar degeneration.	256
18288693	2008	TDP-43 A315T mutation in familial motor neuron disease.	245

Citation

Dessen P

TARDBP (TAR DNA binding protein)

Atlas Genet Cytogenet Oncol Haematol. 2010-10-01

Online version: http://atlasgeneticsoncology.org/gene/51706/tardbp