RFXAP (regulatory factor X associated protein)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
5994
Gene name Gene Name - the full gene name approved by the HGNC.
Regulatory factor X associated protein
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
RFXAP
Synonyms (NCBI Gene) Gene synonyms aliases
MHC2D4
Disease Acronyms (UniProt) Disease acronyms from UniProt database
MHC2D4
Chromosome Chromosome number
13
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
13q13.3
Summary Summary of gene provided in NCBI Entrez Gene.
Major histocompatibility (MHC) class II molecules are transmembrane proteins that have a central role in development and control of the immune system. The protein encoded by this gene, along with regulatory factor X-associated ankyrin-containing protein a
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(3)
SNP ID Visualize variation Clinical significance Consequence
rs137853098 C>T Pathogenic Stop gained, coding sequence variant
rs754240018 T>A,G Pathogenic Stop gained, missense variant, coding sequence variant
rs1313207845 C>T Pathogenic Coding sequence variant, stop gained
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(247)
miRTarBase ID miRNA Experiments Reference
MIRT711792 hsa-miR-106a-5p HITS-CLIP 19536157
MIRT711791 hsa-miR-106b-5p HITS-CLIP 19536157
MIRT711790 hsa-miR-17-5p HITS-CLIP 19536157
MIRT711789 hsa-miR-20a-5p HITS-CLIP 19536157
MIRT711788 hsa-miR-20b-5p HITS-CLIP 19536157
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(8)
GO ID Ontology Definition Evidence Reference
GO:0000977 Function RNA polymerase II transcription regulatory region sequence-specific DNA binding IDA 9118943, 9806546
GO:0001228 Function DNA-binding transcription activator activity, RNA polymerase II-specific IDA 9118943, 9806546
GO:0005634 Component Nucleus IBA 21873635
GO:0006357 Process Regulation of transcription by RNA polymerase II IBA 21873635
GO:0016607 Component Nuclear speck IDA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
601861 9988 ENSG00000133111
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID O00287
Protein name Regulatory factor X-associated protein (RFX-associated protein) (RFX DNA-binding complex 36 kDa subunit)
Protein function Part of the RFX complex that binds to the X-box of MHC II promoters.
PDB 2KW3
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF15289 RFXA_RFXANK_bdg 140 → 267 Regulatory factor X-associated C-terminal binding domain Domain
Tissue specificity TISSUE SPECIFICITY: Ubiquitous.
Sequence 
MEAQGVAEGAGPGAASGVPHPAALAPAAAPTLAPASVAAAASQFTLLVMQPCAGQDEAAA
PGGSVGAGKPVRYLCEGAGDGEEEAGEDEADLLDTSDPPGGGESAASLEDLEDEETHSGG
EGSSGGARRRGSGGGSMSKTCTYEGCSETTSQVAKQRKPWMCKKHRNKMYKDKYKKKKSD
QALNCGGTASTGSAGNVKLEESADNILSIVKQRTGSFGDRPARPTLLEQVLNQKRLSLLR
SPEVVQFLQKQQQLLNQQVLEQRQQQFPGTSM
Sequence length 272
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  
  Antigen processing and presentation
Tuberculosis
Primary immunodeficiency 		 
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (3)
Causal
Disease term Disease name dbSNP ID References
Agammaglobulinemia Agammaglobulinemia rs2134166251, rs128620183, rs128620185, rs128621193, rs128621201, rs128621204, rs121912424, rs267606711, rs376256147, rs281865422, rs1600631593, rs1555843601, rs267606871, rs879255271, rs2142904392
View all (17 more)
Neutropenia Neutropenia rs879253882
Pancytopenia Pancytopenia rs869312883, rs770551610, rs1131690788, rs530073586, rs374333820
Show/Hide Unknown Diseases (1)
Unknown
Disease term Disease name Evidence References Source
Otitis media Acute otitis media ClinVar
Show/Hide Text Mining Associations (9)
Associations from Text Mining
Disease Name Relationship Type References
Bare lymphocyte syndrome 2 Associate 25445815
Genetic Diseases Inborn Associate 12498778
Immunologic Deficiency Syndromes Associate 9287230
Malocclusion Angle Class II Associate 12498778, 9118943, 9287230
Malocclusion Angle Class II Inhibit 16848795
Pancreatic Neoplasms Inhibit 26337469
Primary Immunodeficiency Diseases Associate 20732328
Severe Combined Immunodeficiency Associate 10825209, 38441205
Thrombosis Associate 37408475