Gene table of RFXAP : regulatory factor X associated protein

Gene-disease associations table

Disease ID	Disease name	Source of annotation with RFXAP	OMIM link	Number of associated genes	genes
209920	BARE LYMPHOCYTE SYNDROME, TYPE II	ClinVar, OMIM	link to OMIM	5	CIITA, SMAD9, RFXAP, RFX5, RFXANK

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Annotation of the gene RFXAP

Associated genes in ENSEMBL

ENSG00000133111

Associated proteins - SwissProt Accession ID

O00287

Associated PDB IDs

2kw3

Cytogenetic Band

13q13.3

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

It is a TF of the genes:

Associated KEGG pathways

KEGG pathway	KEGG ID	KEGG IC
Primary immunodeficiency	hsa05340	7.52
Tuberculosis	hsa05152	5.17
Antigen processing and presentation	hsa04612	6.04

Associated REACTOME pathways

Associated GO terms for Molecular function

GO term	GO ID	GO IC
transcription factor activity, transcription factor binding	GO:0000989	3.36
transcription factor activity, sequence-specific DNA binding	GO:0003700	2.65
organic cyclic compound binding	GO:0097159	1.05
DNA binding	GO:0003677	1.92
transcription coactivator activity	GO:0003713	4.04
transcription cofactor activity	GO:0003712	3.44
binding	GO:0005488	0.18
nucleic acid binding	GO:0003676	1.44
transcription factor activity, protein binding	GO:0000988	3.35
heterocyclic compound binding	GO:1901363	1.06
nucleic acid binding transcription factor activity	GO:0001071	2.65