Gene table of TAF2 : TATA-box binding protein associated factor 2

Gene-disease associations table

Disease ID	Disease name	Source of annotation with TAF2	OMIM link	Number of associated genes	genes
PS249500	MENTAL RETARDATION, AUTOSOMAL RECESSIVE	ClinVar, OMIM, HUMSAVAR	link to OMIM	31	ADAT3, NDST1, GPT2, PIGG, FMN2, TTI2, PGAP1, HNMT, EDC3, NSUN2, KPTN, GRIK2, TAF2, KIAA1033, MED23, PRSS12, FBXO31, LINS1, HERC2, CC2D1A, METTL23, TUSC3, ST3GAL3, TECR, CRADD, MAN1B1, SLC6A17, ANK3, CRBN, TRAPPC9, LMAN2L

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Annotation of the gene TAF2

Associated genes in ENSEMBL

ENSG00000064313

Associated proteins - SwissProt Accession ID

Q6P1X5

Associated PDB IDs

5fur

Cytogenetic Band

8q24.12

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

Associated KEGG pathways

KEGG pathway	KEGG ID	KEGG IC
Basal transcription factors	hsa03022	7.31

Associated REACTOME pathways

REACTOME pathway	REACTOME ID	REACTOME IC
Transcription of the HIV genome	R-HSA-167172	6.96
Infectious disease	R-HSA-5663205	4.47
RNA Polymerase II Transcription Initiation And Promoter Clearance	R-HSA-76042	7.52
Gene Expression	R-HSA-74160	2.72
HIV Infection	R-HSA-162906	5.22
RNA Polymerase II Transcription Pre-Initiation And Promoter Opening	R-HSA-73779	7.52
RNA Polymerase II HIV Promoter Escape	R-HSA-167162	7.52
RNA Polymerase II Pre-transcription Events	R-HSA-674695	7.01
Late Phase of HIV Life Cycle	R-HSA-162599	6.02
RNA Polymerase II Promoter Escape	R-HSA-73776	7.52
RNA Polymerase II Transcription Initiation	R-HSA-75953	7.52
HIV Life Cycle	R-HSA-162587	5.89
HIV Transcription Initiation	R-HSA-167161	7.52
Disease	R-HSA-1643685	3.33
RNA Polymerase II Transcription	R-HSA-73857	6.25

Associated GO terms for Molecular function

GO term	GO ID	GO IC
transcription factor activity, RNA polymerase II core promoter sequence-specific binding involved in preinitiation complex assembly	GO:0001075	8.64
transcription factor activity, RNA polymerase II transcription factor binding	GO:0001076	4.84
RNA polymerase II transcription factor activity, TBP-class protein binding	GO:0001132	9.74
macromolecular complex binding	GO:0044877	2.61
zinc ion binding	GO:0008270	2.66
nucleic acid binding	GO:0003676	1.44
DNA binding	GO:0003677	1.92
peptidase activity	GO:0008233	3.23
heterocyclic compound binding	GO:1901363	1.06
metallopeptidase activity	GO:0008237	4.5
sequence-specific DNA binding	GO:0043565	2.79
transition metal ion binding	GO:0046914	2.48
ion binding	GO:0043167	1.36
transcription factor activity, transcription factor binding	GO:0000989	3.36
transcription factor activity, protein binding	GO:0000988	3.35
metal ion binding	GO:0046872	1.41
transcription factor activity, RNA polymerase II core promoter sequence-specific	GO:0000983	7.1
RNA polymerase II transcription factor activity, sequence-specific DNA binding	GO:0000981	3.29
hydrolase activity	GO:0016787	1.9
cation binding	GO:0043169	1.4
regulatory region nucleic acid binding	GO:0001067	3.03
catalytic activity	GO:0003824	1.05
RNA polymerase II transcription factor activity, TBP-class protein binding, involved in preinitiation complex assembly	GO:0001129	9.74
transcription regulatory region DNA binding	GO:0044212	3.03
transcription factor activity, RNA polymerase II basal transcription factor binding	GO:0001083	9.05
transcription factor activity, sequence-specific DNA binding	GO:0003700	2.65
organic cyclic compound binding	GO:0097159	1.05
nucleic acid binding transcription factor activity	GO:0001071	2.65
peptidase activity, acting on L-amino acid peptides	GO:0070011	3.26
protein binding	GO:0005515	0.46
regulatory region DNA binding	GO:0000975	3.03
chromatin binding	GO:0003682	3.64
binding	GO:0005488	0.18