Free for academic non-profit institutions. Other users need a Commercial license

Aliases for RFXANK Gene

Aliases for RFXANK Gene

  • Regulatory Factor X Associated Ankyrin Containing Protein 2 3 5
  • Regulatory Factor X-Associated Ankyrin-Containing Protein 2 3 4
  • Regulatory Factor X Subunit B 2 3 4
  • Ankyrin Repeat-Containing Regulatory Factor X-Associated Protein 2 3
  • Ankyrin Repeat Family A Protein 1 3 4
  • RFX-Bdelta4 2 3
  • ANKRA1 3 4
  • RFX-B 3 4
  • DNA-Binding Protein RFXANK 2
  • 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 Immunodeficiency By Defective Expression Of Hla Class 2. Among its related pathways are Primary immunodeficiency and EGFR1 Signaling Pathway. 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 (MHC2TA). May regulate other genes in the cell. RFX binds the X1 box of MHC-II promoters. Isoform RFX-B-delta5 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 Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

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

ENSRs around RFXANK on UCSC Golden Path with GeneCards custom track

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:
    • 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. RFX forms cooperative DNA binding complexes with X2BP and CBF/NF-Y. RFX associates with MHC2TA to form an active transcriptional complex.

    Three dimensional structures from OCA and Proteopedia for RFXANK Gene

    Alternative splice isoforms for RFXANK Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RFXANK Gene

Proteomics data for RFXANK Gene at MOPED

Post-translational modifications for RFXANK Gene

  • Ubiquitination at Lys 155, Lys 204, and Lys 96
  • Modification sites at PhosphoSitePlus

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 :
  • 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.
  • Contains 5 ANK repeats.
Domain:
  • 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.
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 (MHC2TA). May regulate other genes in the cell. RFX binds the X1 box of MHC-II promoters. Isoform RFX-B-delta5 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:0005515 protein binding IEA --
GO:0042826 histone deacetylase binding IEA --
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

CRISPR 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

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for RFXANK Gene COMPARTMENTS Subcellular localization image for RFXANK gene
Compartment Confidence
extracellular 5
nucleus 5
cytosol 4
endosome 1

Gene Ontology (GO) - Cellular Components for RFXANK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm 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 --
genes like me logo Genes that share ontologies with RFXANK: view

No data available for SIGNOR curated interactions for RFXANK Gene

Drugs & Compounds for RFXANK Gene

No Compound Related Data Available

Transcripts for RFXANK Gene

Unigene Clusters for RFXANK Gene

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

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 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, MOPED, and MaxQB for RFXANK Gene



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

Protein tissue co-expression partners for RFXANK Gene

Primer Products

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
cow
(Bos Taurus)
Mammalia RFXANK 35
  • 85.38 (n)
  • 90.57 (a)
RFXANK 36
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia RFXANK 35
  • 86.41 (n)
  • 93.08 (a)
RFXANK 36
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Rfxank 35
  • 83.01 (n)
  • 85.33 (a)
Rfxank 16
Rfxank 36
  • 79 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia RFXANK 35
  • 99.49 (n)
  • 99.62 (a)
RFXANK 36
  • 94 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Rfxank 35
  • 83.85 (n)
  • 87.31 (a)
oppossum
(Monodelphis domestica)
Mammalia RFXANK 36
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RFXANK 36
  • 51 (a)
OneToOne
chicken
(Gallus gallus)
Aves RFXANK 35
  • 79.03 (n)
  • 91.4 (a)
RFXANK 36
  • 62 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rfxank 35
  • 67.28 (n)
  • 75 (a)
Str.7350 35
zebrafish
(Danio rerio)
Actinopterygii rfxank 35
  • 65.21 (n)
  • 71.58 (a)
rfxank 36
  • 66 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009822 35
  • 48.23 (n)
  • 36.87 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG5846 35
  • 49.07 (n)
  • 36.67 (a)
CG5846 36
  • 29 (a)
OneToMany
Species with no ortholog for RFXANK:
  • 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
VAR_009941 Bare lymphocyte syndrome 2 (BLS2)
VAR_014472 -
VAR_048311 -
rs62135503 -- 19,194,709(+) TTTGG(G/T)AGGCT intron-variant
rs71170606 -- 19,200,809(+) TTTTT(-/TTTTTTT)GAGAT intron-variant

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

Variant ID Type Subtype PubMed ID
nsv833779 CNV Loss 17160897
nsv911303 CNV Loss 21882294
nsv911304 CNV Loss 21882294
nsv911305 CNV Loss 21882294

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

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

Disorders for RFXANK Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
bare lymphocyte syndrome, type ii, complementation group c
  • bare lymphocyte syndrome, type ii, complementation group e
immunodeficiency by defective expression of hla class 2
  • bare lymphocyte syndrome 2
mhc class ii deficiency
  • severe combined immunodeficiency
mature b-cell neoplasm
  • mature b-cell lymphocytic neoplasm
acrocallosal syndrome
  • joubert syndrome 12
- 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 23 67
  2. Assembly of the RFX complex on the MHCII promoter: role of RFXAP and RFXB in relieving autoinhibition of RFX5. (PMID: 18723135) Garvie C.W. … Boss J.M. (Biochim. Biophys. Acta 2008) 3 23
  3. Identification of the ankyrin repeat proteins ANKRA and RFXANK as novel partners of class IIa histone deacetylases. (PMID: 15964851) Wang A.H. … Yang X.J. (J. Biol. Chem. 2005) 3 23
  4. New functions of the major histocompatibility complex class II-specific transcription factor RFXANK revealed by a high-resolution mutagenesis study. (PMID: 16166641) Krawczyk M. … Reith W. (Mol. Cell. Biol. 2005) 3 23
  5. Novel mutations in the RFXANK gene: RFX complex containing in-vitro-generated RFXANK mutant binds the promoter without transactivating MHC II. (PMID: 12618906) Wiszniewski W. … Lisowska-Grospierre B. (Immunogenetics 2003) 3 23

Products for RFXANK Gene

Sources for RFXANK Gene

Content