TAF8 (TATA-box binding protein associated factor 8)

2014-08-01  

Identity

HGNC
TAF8
LOCATION
6p21.1
LOCUSID
129685
ALIAS
II,TAF,TAF(II)43,TAFII-43,TAFII43,TBN
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 129685
MIM: 609514
HGNC: 17300
Ensembl: ENSG00000137413

Variants:

dbSNP: 129685
ClinVar: 129685
TCGA: ENSG00000137413
COSMIC: TAF8

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000137413ENST00000372977Q7Z7C8
ENSG00000137413ENST00000372978A0A0A0MRR3
ENSG00000137413ENST00000372982Q7Z7C8
ENSG00000137413ENST00000456846Q7Z7C8
ENSG00000137413ENST00000465926B4DZU5
ENSG00000137413ENST00000472818C9J7M8
ENSG00000137413ENST00000482432C9J856
ENSG00000137413ENST00000494547Q7Z7C8

Expression (GTEx)

0
5
10
15
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

Pathways

PathwaySourceExternal ID
Basal transcription factorsKEGGko03022
Basal transcription factorsKEGGhsa03022
Gene ExpressionREACTOMER-HSA-74160
RNA polymerase II transcribes snRNA genesREACTOMER-HSA-6807505

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
seminal vesicle
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
192047262009Transcriptomic and genetic studies identify IL-33 as a candidate gene for Alzheimer's disease.63
255861962015Cytoplasmic TAF2-TAF8-TAF10 complex provides evidence for nuclear holo-TFIID assembly from preformed submodules.34
296486652018Homozygous TAF8 mutation in a patient with intellectual disability results in undetectable TAF8 protein, but preserved RNA polymerase II transcription.5

Citation

Dessen P

TAF8 (TATA-box binding protein associated factor 8)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54683/taf8