TAF2 (TATA-box binding protein associated factor 2)

2014-11-01  

Identity

HGNC
TAF2
LOCATION
8q24.12
LOCUSID
6873
ALIAS
CIF150,MRT40,TAF2B,TAFII150
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 6873
MIM: 604912
HGNC: 11536
Ensembl: ENSG00000064313

Variants:

dbSNP: 6873
ClinVar: 6873
TCGA: ENSG00000064313
COSMIC: TAF2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000064313ENST00000378164Q6P1X5
ENSG00000064313ENST00000521007E5RI28
ENSG00000064313ENST00000523098H0YB55
ENSG00000064313ENST00000523904H0YC37
ENSG00000064313ENST00000529653H0YEX2

Expression (GTEx)

0
5
10
15
20
25
30
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
DiseaseREACTOMER-HSA-1643685
Infectious diseaseREACTOMER-HSA-5663205
HIV InfectionREACTOMER-HSA-162906
HIV Life CycleREACTOMER-HSA-162587
Late Phase of HIV Life CycleREACTOMER-HSA-162599
Transcription of the HIV genomeREACTOMER-HSA-167172
HIV Transcription InitiationREACTOMER-HSA-167161
RNA Polymerase II HIV Promoter EscapeREACTOMER-HSA-167162
Gene ExpressionREACTOMER-HSA-74160
Generic Transcription PathwayREACTOMER-HSA-212436
Transcriptional Regulation by TP53REACTOMER-HSA-3700989
RNA Polymerase II TranscriptionREACTOMER-HSA-73857
RNA Polymerase II Pre-transcription EventsREACTOMER-HSA-674695
RNA Polymerase II Transcription Pre-Initiation And Promoter OpeningREACTOMER-HSA-73779
RNA Polymerase II Transcription Initiation And Promoter ClearanceREACTOMER-HSA-76042
RNA Polymerase II Transcription InitiationREACTOMER-HSA-75953
RNA Polymerase II Promoter EscapeREACTOMER-HSA-73776
Regulation of TP53 ActivityREACTOMER-HSA-5633007
Regulation of TP53 Activity through PhosphorylationREACTOMER-HSA-6804756

References

Pubmed IDYearTitleCitations
344741772021Phenotype associated with TAF2 biallelic mutations: A clinical description of four individuals and review of the literature.5
346343022021TAF8 regions important for TFIID lobe B assembly or for TAF2 interactions are required for embryonic stem cell survival.2
344741772021Phenotype associated with TAF2 biallelic mutations: A clinical description of four individuals and review of the literature.5
346343022021TAF8 regions important for TFIID lobe B assembly or for TAF2 interactions are required for embryonic stem cell survival.2
255861962015Cytoplasmic TAF2-TAF8-TAF10 complex provides evidence for nuclear holo-TFIID assembly from preformed submodules.51
255861962015Cytoplasmic TAF2-TAF8-TAF10 complex provides evidence for nuclear holo-TFIID assembly from preformed submodules.51
240841442013Microcephaly thin corpus callosum intellectual disability syndrome caused by mutated TAF2.20
240841442013Microcephaly thin corpus callosum intellectual disability syndrome caused by mutated TAF2.20

Citation

Dessen P

TAF2 (TATA-box binding protein associated factor 2)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/74468/taf2-(tata-box-binding-protein-associated-factor-2)