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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 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. This protein contains ankyrin repeats involved in protein-protein interactions. Mutations in this gene have been linked to bare lymphocyte syndrome type II, complementation group B. Multiple alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2013]
RFXANK (Regulatory Factor X Associated Ankyrin Containing Protein) is a Protein Coding gene. Diseases associated with RFXANK include Bare Lymphocyte Syndrome, Type Ii and Combined Immunodeficiency. Among its related pathways are Primary immunodeficiency and Allograft rejection. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and transcription coregulator activity. An important paralog of this gene is ANKRA2.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000977 | contributes_to RNA polymerase II regulatory region sequence-specific DNA binding | IDA | 9806546 |
GO:0001228 | contributes_to DNA-binding transcription activator activity, RNA polymerase II-specific | IDA | 9806546 |
GO:0003677 | DNA binding | IEA | -- |
GO:0005515 | protein binding | IEA | -- |
GO:0042826 | histone deacetylase binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | IBA | 21873635 |
GO:0005654 | nucleoplasm | IDA | -- |
GO:0005737 | cytoplasm | IEA | -- |
GO:0005829 | cytosol | IDA | -- |
GO:0045171 | intercellular bridge | IDA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Allograft rejection | ||
2 | Primary immunodeficiency | ||
3 | Tuberculosis | ||
4 | Signaling events mediated by HDAC Class II |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006357 | regulation of transcription by RNA polymerase II | IBA | 21873635 |
GO:0007265 | Ras protein signal transduction | IEA | -- |
GO:0010468 | regulation of gene expression | IBA | 21873635 |
GO:0045944 | positive regulation of transcription by RNA polymerase II | IDA | 9806546 |
ExUns: | 1a | · | 1b | · | 1c | · | 1d | ^ | 2a | · | 2b | · | 2c | · | 2d | ^ | 3a | · | 3b | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7a | · | 7b | ^ | 8a | · | 8b | ^ | 9a | · | 9b | ^ | 10 | ^ | 11 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||
SP2: | - | - | |||||||||||||||||||||||||||||||||||||||
SP3: | - | ||||||||||||||||||||||||||||||||||||||||
SP4: | - | ||||||||||||||||||||||||||||||||||||||||
SP5: | - | ||||||||||||||||||||||||||||||||||||||||
SP6: | - | - | |||||||||||||||||||||||||||||||||||||||
SP7: | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||
SP8: | |||||||||||||||||||||||||||||||||||||||||
SP9: | - | - | - | ||||||||||||||||||||||||||||||||||||||
SP10: | |||||||||||||||||||||||||||||||||||||||||
SP11: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | RFXANK 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | RFXANK 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | RFXANK 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Rfxank 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Rfxank 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | RFXANK 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | RFXANK 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | RFXANK 30 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | rfxank 30 |
|
||
Str.7350 30 |
|
||||
Zebrafish (Danio rerio) |
Actinopterygii | rfxank 30 31 |
|
OneToOne | |
Fruit Fly (Drosophila melanogaster) |
Insecta | CG5846 30 31 |
|
OneToMany | |
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP009822 30 |
|
SNP ID | Clinical significance and condition | Chr 19 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
835732 | Uncertain Significance: Bare lymphocyte syndrome 2 | 19,196,966(+) |
G/T NM_003721.4(RFXANK):c.191G>T (p.Gly64Val) |
MISSENSE | |
844630 | Uncertain Significance: Bare lymphocyte syndrome 2 | 19,197,032(+) |
C/T NM_003721.4(RFXANK):c.257C>T (p.Pro86Leu) |
MISSENSE | |
844671 | Conflicting Interpretations: Bare lymphocyte syndrome 2 | 19,197,626(+) |
G/A NM_003721.4(RFXANK):c.438+5G>A |
INTRON | |
845010 | Uncertain Significance: Bare lymphocyte syndrome 2 | 19,198,146(+) |
G/A NM_003721.4(RFXANK):c.478G>A (p.Ala160Thr) |
MISSENSE | |
845021 | Uncertain Significance: Bare lymphocyte syndrome 2 | 19,197,206(+) |
G/A NM_003721.4(RFXANK):c.292G>A (p.Ala98Thr) |
MISSENSE_VARIANT,INTRON |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
nsv1151217 | CNV | deletion | 26484159 |
nsv833779 | CNV | loss | 17160897 |
Disorder | Aliases | PubMed IDs |
---|---|---|
bare lymphocyte syndrome, type ii |
|
|
combined immunodeficiency |
|
|
bjornstad syndrome |
|
|
severe combined immunodeficiency |
|
|
tarsal tunnel syndrome |
|
|