TAF13 (TATA-box binding protein associated factor 13)

2014-11-01 Affiliation

Identity

HGNC

TAF13

LOCATION

1p13.3

LOCUSID

6884

ALIAS

MRT60,TAF(II)18,TAF2K,TAFII-18,TAFII18

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: 6884
MIM: 600774
HGNC: 11546
Ensembl: ENSG00000197780

Variants:

dbSNP: 6884
ClinVar: 6884
TCGA: ENSG00000197780
COSMIC: TAF13

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000197780	ENST00000338366	Q15543
ENSG00000197780	ENST00000338366	A0A024R089
ENSG00000197780	ENST00000461096	Q15543
ENSG00000197780	ENST00000461096	A0A024R089

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

Pathways

Pathway	Source	External ID
Basal transcription factors	KEGG	ko03022
Basal transcription factors	KEGG	hsa03022
Herpes simplex infection	KEGG	ko05168
Herpes simplex infection	KEGG	hsa05168
Disease	REACTOME	R-HSA-1643685
Infectious disease	REACTOME	R-HSA-5663205
HIV Infection	REACTOME	R-HSA-162906
HIV Life Cycle	REACTOME	R-HSA-162587
Late Phase of HIV Life Cycle	REACTOME	R-HSA-162599
Transcription of the HIV genome	REACTOME	R-HSA-167172
HIV Transcription Initiation	REACTOME	R-HSA-167161
RNA Polymerase II HIV Promoter Escape	REACTOME	R-HSA-167162
Gene Expression	REACTOME	R-HSA-74160
Generic Transcription Pathway	REACTOME	R-HSA-212436
Transcriptional Regulation by TP53	REACTOME	R-HSA-3700989
RNA Polymerase II Transcription	REACTOME	R-HSA-73857
RNA Polymerase II Pre-transcription Events	REACTOME	R-HSA-674695
RNA Polymerase II Transcription Pre-Initiation And Promoter Opening	REACTOME	R-HSA-73779
RNA Polymerase II Transcription Initiation And Promoter Clearance	REACTOME	R-HSA-76042
RNA Polymerase II Transcription Initiation	REACTOME	R-HSA-75953
RNA Polymerase II Promoter Escape	REACTOME	R-HSA-73776
Regulation of TP53 Activity	REACTOME	R-HSA-5633007
Regulation of TP53 Activity through Phosphorylation	REACTOME	R-HSA-6804756
RNA polymerase II transcribes snRNA genes	REACTOME	R-HSA-6807505

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
28257693	2017	Hypomorphic Pathogenic Variants in TAF13 Are Associated with Autosomal-Recessive Intellectual Disability and Microcephaly.	14
29111974	2017	Architecture of TAF11/TAF13/TBP complex suggests novel regulation properties of general transcription factor TFIID.	17
28257693	2017	Hypomorphic Pathogenic Variants in TAF13 Are Associated with Autosomal-Recessive Intellectual Disability and Microcephaly.	14
29111974	2017	Architecture of TAF11/TAF13/TBP complex suggests novel regulation properties of general transcription factor TFIID.	17

Citation

Dessen P

TAF13 (TATA-box binding protein associated factor 13)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/74463/

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