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Aliases for RFXANK Gene

Aliases for RFXANK Gene

  • Regulatory Factor X Associated Ankyrin Containing Protein 2 3 5
  • Regulatory Factor X Subunit B 2 3 4
  • Ankyrin Repeat-Containing Regulatory Factor X-Associated Protein 2 3
  • Regulatory Factor X-Associated Ankyrin-Containing Protein 2 4
  • Ankyrin Repeat Family A Protein 1 3 4
  • DNA-Binding Protein RFXANK 2 3
  • RFX-Bdelta4 2 3
  • ANKRA1 3 4
  • RFX-B 3 4
  • F14150_1 3
  • RFXB 4
  • BLS 3

External Ids for RFXANK Gene

Previous GeneCards Identifiers for RFXANK Gene

  • GC19P019797
  • GC19P019694
  • GC19P019148
  • GC19P019164
  • GC19P019303
  • GC19P018866

Summaries for RFXANK Gene

Entrez Gene Summary for RFXANK 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 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]

GeneCards Summary for RFXANK Gene

RFXANK (Regulatory Factor X Associated Ankyrin Containing Protein) is a Protein Coding gene. Diseases associated with RFXANK include Bare Lymphocyte Syndrome, Type Ii, Complementation Group C and Mature B-Cell Neoplasm. Among its related pathways are Allograft rejection and Signaling events mediated by HDAC Class II. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and transcription cofactor activity. An important paralog of this gene is ANKRA2.

UniProtKB/Swiss-Prot for RFXANK Gene

  • Activates transcription from class II MHC promoters. Activation requires the activity of the MHC class II transactivator/CIITA. May regulate other genes in the cell. RFX binds the X1 box of MHC-II promoters (PubMed:9806546, PubMed:10072068, PubMed:10725724). May also potentiate the activation of RAF1 (By similarity).

  • Isoform 2 is not involved in the positive regulation of MHC class II genes.

Gene Wiki entry for RFXANK Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RFXANK Gene

Genomics for RFXANK Gene

Regulatory Elements for RFXANK Gene

Enhancers for RFXANK Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH19F018372 1.9 FANTOM5 Ensembl ENCODE 10 -811.1 -811099 18.0 CREB3L1 MLX ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 ZNF548 ZNF263 ENSG00000268030 COLGALT1 UPF1 ENSG00000268938 MVB12A ENSG00000269191 KXD1 IFI30 GDF15 PGLS
GH19F018472 1.8 FANTOM5 Ensembl ENCODE 10 -710.8 -710811 16.8 MLX CREB3L1 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 NFYC KXD1 IFI30 ENSG00000268030 SSBP4 ELL ENSG00000268938 UBA52 UPF1 CRTC1 C19orf60
GH19F019031 1.5 FANTOM5 ENCODE 10.2 -158.8 -158823 3.1 HDGF PKNOX1 ARNT CREB3L1 WRNIP1 ARID4B SIN3A DMAP1 SLC30A9 ZNF143 TMEM161A MEF2B RFXANK BORCS8 BORCS8-MEF2B SLC25A42 ARMC6 SUGP2 SUGP1 DDX49
GH19F018436 1.4 Ensembl ENCODE 10 -752.7 -752697 6.5 HDGF PKNOX1 ZFP64 SIN3A FEZF1 ZNF2 KLF13 SP3 SP5 MXD4 ENSG00000268030 UPF1 ENSG00000268938 COLGALT1 SSBP4 KXD1 ENSG00000268199 ENSG00000269191 ELL RFXANK
GH19F018203 1.4 Ensembl ENCODE 10 -986.3 -986252 6.3 HDGF PKNOX1 MLX ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 ZNF143 PDE4C ENSG00000268030 MVB12A ENSG00000268938 UPF1 LSM4 ENSG00000269191 COLGALT1 PLVAP KXD1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around RFXANK on UCSC Golden Path with GeneCards custom track

Promoters for RFXANK Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001418367 201 2801 PKNOX1 ARNT CREB3L1 WRNIP1 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9

Genomic Location for RFXANK Gene

Chromosome:
19
Start:
19,192,199 bp from pter
End:
19,201,869 bp from pter
Size:
9,671 bases
Orientation:
Plus strand

Genomic View for RFXANK Gene

Genes around RFXANK on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RFXANK Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RFXANK Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RFXANK Gene

Proteins for RFXANK Gene

  • Protein details for RFXANK Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O14593-RFXK_HUMAN
    Recommended name:
    DNA-binding protein RFXANK
    Protein Accession:
    O14593
    Secondary Accessions:
    • O95839
    • Q24JQ1
    • Q6FGA8

    Protein attributes for RFXANK Gene

    Size:
    260 amino acids
    Molecular mass:
    28102 Da
    Quaternary structure:
    • Forms homodimers (By similarity). The RFX heterotetrameric complex consists of 2 molecules of RFX5 and one each of RFXAP and RFX-B/RFXANK; with each subunit representing a separate complementation group. Interacts (via ankyrin repeats) with RFX5 (via PxLPxI/L motif); the interaction is direct. RFX forms cooperative DNA binding complexes with X2BP and CBF/NF-Y. RFX associates with CIITA to form an active transcriptional complex (PubMed:20732328, PubMed:22649097). Interacts with RAF1 (By similarity). Interacts (via ankyrin repeats) with RFX7 (via PxLPxI/L motif) (PubMed:25752541).

    Three dimensional structures from OCA and Proteopedia for RFXANK Gene

    Alternative splice isoforms for RFXANK Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RFXANK Gene

Post-translational modifications for RFXANK Gene

No data available for DME Specific Peptides for RFXANK Gene

Domains & Families for RFXANK Gene

Gene Families for RFXANK Gene

Protein Domains for RFXANK Gene

Suggested Antigen Peptide Sequences for RFXANK Gene

Graphical View of Domain Structure for InterPro Entry

O14593

UniProtKB/Swiss-Prot:

RFXK_HUMAN :
  • Interacts with RAF1 via its C-terminal ankyrin repeat domain. The same domain also mediates its homodimerization (By similarity). The third ankyrin repeat is required for association with the two other RFX subunits; RFX5 and RFXAP. The three central ANK repeats mediate binding to the PxLPxI/L motif of RFX5 (PubMed:20732328, PubMed:22649097).
  • Contains 5 ANK repeats.
Domain:
  • Interacts with RAF1 via its C-terminal ankyrin repeat domain. The same domain also mediates its homodimerization (By similarity). The third ankyrin repeat is required for association with the two other RFX subunits; RFX5 and RFXAP. The three central ANK repeats mediate binding to the PxLPxI/L motif of RFX5 (PubMed:20732328, PubMed:22649097).
Similarity:
  • Contains 5 ANK repeats.
genes like me logo Genes that share domains with RFXANK: view

Function for RFXANK Gene

Molecular function for RFXANK Gene

GENATLAS Biochemistry:
transactivating DNA binding regulator,28kDa,component of the RFX complex,involved in MHC class II expression
UniProtKB/Swiss-Prot Function:
Activates transcription from class II MHC promoters. Activation requires the activity of the MHC class II transactivator/CIITA. May regulate other genes in the cell. RFX binds the X1 box of MHC-II promoters (PubMed:9806546, PubMed:10072068, PubMed:10725724). May also potentiate the activation of RAF1 (By similarity).
UniProtKB/Swiss-Prot Function:
Isoform 2 is not involved in the positive regulation of MHC class II genes.

Gene Ontology (GO) - Molecular Function for RFXANK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
GO:0003700 transcription factor activity, sequence-specific DNA binding NAS 9806546
GO:0003712 transcription cofactor activity TAS 10072068
genes like me logo Genes that share ontologies with RFXANK: view

Phenotypes for RFXANK Gene

GenomeRNAi human phenotypes for RFXANK:
genes like me logo Genes that share phenotypes with RFXANK: view

Human Phenotype Ontology for RFXANK Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for RFXANK Gene

Localization for RFXANK Gene

Subcellular locations from UniProtKB/Swiss-Prot for RFXANK Gene

Cytoplasm. Nucleus.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RFXANK gene
Compartment Confidence
extracellular 5
nucleus 5
cytosol 5
endosome 1

Gene Ontology (GO) - Cellular Components for RFXANK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA --
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IDA --
GO:0045171 intercellular bridge IDA --
genes like me logo Genes that share ontologies with RFXANK: view

Pathways & Interactions for RFXANK Gene

genes like me logo Genes that share pathways with RFXANK: view

Pathways by source for RFXANK Gene

Gene Ontology (GO) - Biological Process for RFXANK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006357 regulation of transcription from RNA polymerase II promoter IBA --
genes like me logo Genes that share ontologies with RFXANK: view

No data available for SIGNOR curated interactions for RFXANK Gene

Transcripts for RFXANK Gene

Unigene Clusters for RFXANK Gene

Regulatory factor X-associated ankyrin-containing protein:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for RFXANK Gene

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:

Relevant External Links for RFXANK Gene

GeneLoc Exon Structure for
RFXANK
ECgene alternative splicing isoforms for
RFXANK

Expression for RFXANK Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for RFXANK Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for RFXANK Gene

This gene is overexpressed in Lymph node (57.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for RFXANK Gene



Protein tissue co-expression partners for RFXANK Gene

NURSA nuclear receptor signaling pathways regulating expression of RFXANK Gene:

RFXANK

SOURCE GeneReport for Unigene cluster for RFXANK Gene:

Hs.296776

mRNA Expression by UniProt/SwissProt for RFXANK Gene:

O14593-RFXK_HUMAN
Tissue specificity: Ubiquitous.
genes like me logo Genes that share expression patterns with RFXANK: view

No data available for mRNA differential expression in normal tissues for RFXANK Gene

Orthologs for RFXANK Gene

This gene was present in the common ancestor of animals.

Orthologs for RFXANK Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RFXANK 34 35
  • 99.49 (n)
dog
(Canis familiaris)
Mammalia RFXANK 34 35
  • 86.41 (n)
cow
(Bos Taurus)
Mammalia RFXANK 34 35
  • 85.38 (n)
rat
(Rattus norvegicus)
Mammalia Rfxank 34
  • 83.85 (n)
mouse
(Mus musculus)
Mammalia Rfxank 34 16 35
  • 83.01 (n)
oppossum
(Monodelphis domestica)
Mammalia RFXANK 35
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RFXANK 35
  • 51 (a)
OneToOne
chicken
(Gallus gallus)
Aves RFXANK 34 35
  • 79.03 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia rfxank 34
  • 67.28 (n)
Str.7350 34
zebrafish
(Danio rerio)
Actinopterygii rfxank 34 35
  • 65.21 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG5846 34 35
  • 49.07 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009822 34
  • 48.23 (n)
Species where no ortholog for RFXANK was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for RFXANK Gene

ENSEMBL:
Gene Tree for RFXANK (if available)
TreeFam:
Gene Tree for RFXANK (if available)

Paralogs for RFXANK Gene

Paralogs for RFXANK Gene

genes like me logo Genes that share paralogs with RFXANK: view

Variants for RFXANK Gene

Sequence variations from dbSNP and Humsavar for RFXANK Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
rs751386365 Bare lymphocyte syndrome 2 (BLS2) [MIM:209920] 19,198,676(+) ACTGC(C/T)GTACG reference, missense
rs104894709 Pathogenic 19,197,545(+) GCCAG(A/T)CGAGC reference, missense
rs869312922 Pathogenic 19,197,622(+) AGTGG(G/T)TGCGT splice-donor-variant
rs187331767 Likely benign 19,197,255(+) AGGTG(C/T)GTGTC intron-variant
rs10401713 -- 19,195,338(+) gagac(A/G)gaatc intron-variant

Structural Variations from Database of Genomic Variants (DGV) for RFXANK Gene

Variant ID Type Subtype PubMed ID
nsv833779 CNV loss 17160897
nsv1151217 CNV deletion 26484159

Variation tolerance for RFXANK Gene

Residual Variation Intolerance Score: 31.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.32; 63.03% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for RFXANK Gene

Human Gene Mutation Database (HGMD)
RFXANK
SNPedia medical, phenotypic, and genealogical associations of SNPs for
RFXANK

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RFXANK Gene

Disorders for RFXANK Gene

MalaCards: The human disease database

(6) MalaCards diseases for RFXANK Gene - From: OMIM, GeneTests, Orphanet, Swiss-Prot, DISEASES, and Novoseek

Disorder Aliases PubMed IDs
bare lymphocyte syndrome, type ii, complementation group c
  • bare lymphocyte syndrome, type ii, complementation group e
mature b-cell neoplasm
  • mature b-cell lymphocytic neoplasm
acrocallosal syndrome
  • joubert syndrome 12
splenic disease
  • dyssplenism
bare lymphocyte syndrome, type i
  • bare lymphocyte syndrome, type i, due to tap2 deficiency
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

RFXK_HUMAN
  • Bare lymphocyte syndrome 2 (BLS2) [MIM:209920]: A severe combined immunodeficiency disease with early onset. It is characterized by a profound defect in constitutive and interferon-gamma induced MHC II expression, absence of cellular and humoral T-cell response to antigen challenge, hypogammaglobulinemia and impaired antibody production. The consequence include extreme susceptibility to viral, bacterial and fungal infections. {ECO:0000269 PubMed:10072068, ECO:0000269 PubMed:10725724, ECO:0000269 PubMed:9806546}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for RFXANK

Genetic Association Database (GAD)
RFXANK
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RFXANK
genes like me logo Genes that share disorders with RFXANK: view

No data available for Genatlas for RFXANK Gene

Publications for RFXANK Gene

  1. A gene encoding a novel RFX-associated transactivator is mutated in the majority of MHC class II deficiency patients. (PMID: 9806546) Masternak K. … Reith W. (Nat. Genet. 1998) 2 3 4 22 64
  2. Novel mutations within the RFX-B gene and partial rescue of MHC and related genes through exogenous class II transactivator in RFX-B- deficient cells. (PMID: 10725724) Nagarajan U.M. … van den Elsen P.J. (J. Immunol. 2000) 3 4 22 64
  3. RFX-B is the gene responsible for the most common cause of the bare lymphocyte syndrome, an MHC class II immunodeficiency. (PMID: 10072068) Nagarajan U.M. … Boss J.M. (Immunity 1999) 2 3 4 64
  4. Ankyrin repeats of ANKRA2 recognize a PxLPxL motif on the 3M syndrome protein CCDC8. (PMID: 25752541) Nie J. … Yang X.J. (Structure 2015) 3 4 64
  5. Sequence-specific recognition of a PxLPxI/L motif by an ankyrin repeat tumbler lock. (PMID: 22649097) Xu C. … Min J. (Sci. Signal. 2012) 3 4 64

Products for RFXANK Gene

Sources for RFXANK Gene

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