Gene

RFXAP

Species
Homo sapiens
Symbol
RFXAP
Name
regulatory factor X associated protein
Synonyms
  • MHC2D4
  • RFX DNA-binding complex 36 kDa subunit
Biotype
protein coding gene
Automated Description
Contributes to DNA-binding transcription activator activity, RNA polymerase II-specific and RNA polymerase II transcription regulatory region sequence-specific DNA binding activity. Involved in positive regulation of transcription by RNA polymerase II. Located in nuclear speck. Part of RNA polymerase II transcription regulator complex.
RGD Description
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 and regulatory factor-5, forms a complex that binds to the X box motif of certain MHC class II gene promoters and activates their transcription. Once bound to the promoter, this complex associates with the non-DNA-binding factor MHC class II transactivator, which controls the cell type specificity and inducibility of MHC class II gene expression. Mutations in this gene have been linked to bare lymphocyte syndrome type II, complementation group D. Transcript variants utilizing different polyA signals have been found for this gene. [provided by RefSeq, Jul 2008]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR15110
Links to orthology data in JBrowse by filter level: Stringent,  Moderate,  No filter,  Best and Best Reverse

Paralogy

Function - GO Annotations

Pathways

No data available

Phenotypes

Primary Sources
None
Other Sources

Disease Associations

Cases where the expected disease association was NOT found
Cell color indicative of annotation volume

Transgenic Alleles

Models

Sequence Feature Viewer

Genome location
Assembly version
GRCh38
Viewer Help
36.820M36.821M36.822M36.823M36.824M36.825M36.826M36.827M36.828M36.829M

Sequence Details

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Expression

Primary Sources
None
Other Sources
Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

Molecular Interactions

Genetic Interactions