TARDBP (TAR DNA binding protein)

2010-10-01  

Identity

HGNC
TARDBP
LOCATION
1p36.22
LOCUSID
23435
ALIAS
ALS10,TDP-43
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 23435
MIM: 605078
HGNC: 11571
Ensembl: ENSG00000120948

Variants:

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

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000120948ENST00000240185Q13148
ENSG00000120948ENST00000240185A0A024R4E2
ENSG00000120948ENST00000315091B1AKP7
ENSG00000120948ENST00000439080A0A0A0MSV7
ENSG00000120948ENST00000472476K7EJ99
ENSG00000120948ENST00000473118K7EJM5
ENSG00000120948ENST00000473869G3V162
ENSG00000120948ENST00000476201K7EN94
ENSG00000120948ENST00000477447K7EL26
ENSG00000120948ENST00000496840K7ENM9
ENSG00000120948ENST00000610369A0A087WZC9
ENSG00000120948ENST00000611963A0A087WXV3
ENSG00000120948ENST00000614494A0A087WZM1
ENSG00000120948ENST00000616545A0A087X260
ENSG00000120948ENST00000617172A0A087WV68
ENSG00000120948ENST00000619555A0A087WW61
ENSG00000120948ENST00000620505A0A087WVX6
ENSG00000120948ENST00000620632A0A087WX67
ENSG00000120948ENST00000621573A0A087WTG4
ENSG00000120948ENST00000621715A0A087WX29
ENSG00000120948ENST00000621790A0A087WYY0
ENSG00000120948ENST00000622057A0A087WXQ5
ENSG00000120948ENST00000629725G3V162
ENSG00000120948ENST00000638264A0A1W2PNU8
ENSG00000120948ENST00000639083Q13148
ENSG00000120948ENST00000639083A0A024R4E2
ENSG00000120948ENST00000639599B1AKP7
ENSG00000120948ENST00000649624A0A0A0N0M3

Expression (GTEx)

0
50
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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
376693222024Cross-seeding by prion protein inactivates TDP-43.3
377417642024Identifying and Diagnosing TDP-43 Neurodegenerative Diseases in Psychiatry.1
377936502024Colocalization of TDP-43 and stress granules at the early stage of TDP-43 aggregation in amyotrophic lateral sclerosis.2
378558702024Disease survival and progression in TARDBP ALS patients from Sardinia, Italy.1
380794742024The new missense G376V-TDP-43 variant induces late-onset distal myopathy but not amyotrophic lateral sclerosis.2
381155572024Distribution of ubiquilin 2 and TDP-43 aggregates throughout the CNS in UBQLN2 p.T487I-linked amyotrophic lateral sclerosis and frontotemporal dementia.1
381753012024Cryptic splicing of stathmin-2 and UNC13A mRNAs is a pathological hallmark of TDP-43-associated Alzheimer's disease.5
381785782024Phosphomimetic substitutions in TDP-43's transiently α-helical region suppress phase separation.3
381836522024TDP-43-stratified single-cell proteomics of postmortem human spinal motor neurons reveals protein dynamics in amyotrophic lateral sclerosis.5
382321382024TMEM106B core deposition associates with TDP-43 pathology and is increased in risk SNP carriers for frontotemporal dementia.4
382524122024IκB kinase thwarts aggregation: Phosphorylating TDP-43 for degradation.0
382619822024Cognitive and Behavioral Features of Patients With Amyotrophic Lateral Sclerosis Who Are Carriers of the TARDBP Pathogenic Variant.0
382665172024The influence of limbic-predominant age-related TDP-43 encephalopathy on argyrophilic grain disease: A voxel-based morphometry analysis of pathologically confirmed cases.0
382774672024Mis-spliced transcripts generate de novo proteins in TDP-43-related ALS/FTD.20
382902422024Genetically encoded lysine photocage for spatiotemporal control of TDP-43 nuclear import.0

Citation

Dessen P

TARDBP (TAR DNA binding protein)

Atlas Genet Cytogenet Oncol Haematol. 2010-10-01

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