RFXAP (regulatory factor X associated protein)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 5994
Gene name Regulatory factor X associated protein
Gene symbol RFXAP
Synonyms (NCBI Gene)
MHC2D4
Chromosome 13
Chromosome location 13q13.3
Summary 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.
3
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.
247
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
14
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (14)
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:0003677 Function DNA binding IEA
GO:0005515 Function Protein binding IPI 10938133, 20732328, 25752541, 26496610, 28514442, 33961781
GO:0005634 Component Nucleus IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
601861 9988 ENSG00000133111
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
193
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (3)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
MHC class II deficiency Pathogenic; Likely pathogenic rs1388967331, rs1249595284, rs2138212278, rs1224857205, rs2138213000, rs754240018, rs775250354, rs2057955936, rs749368415, rs1313207845 RCV001380175
RCV001380092
RCV001844513
RCV001959135
RCV002053870
RCV000190356
RCV002512887
RCV003524233
RCV003990853
RCV000686231
MHC class II deficiency 1 Pathogenic rs775250354 RCV005632170
MHC class II deficiency 4 Likely pathogenic; Pathogenic rs754240018, rs1250669587, rs2500443582, rs775250354, rs137853098, rs2500443426, rs2500443932, rs1415196376, rs1313207845 RCV005008122
RCV004576884
RCV004576885
RCV004576886
RCV004576887
RCV004577049
RCV004577050
RCV004577051
RCV005010678
Show/Hide Unknown Diseases (2)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Familial prostate cancer Likely benign rs760354012 RCV005904390
RFXAP-related disorder Likely benign; Benign rs557694029, rs540467033 RCV003951220
RCV003915590
Show/Hide Text Mining Associations (9)
Associations from Text MiningDisease associations identified through Pubtator
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