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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 and Acrocallosal Syndrome. Among its related pathways are Allograft rejection and Primary immunodeficiency. Gene Ontology (GO) annotations related to this gene include DNA binding transcription factor activity 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

Additional gene information for RFXANK Gene

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

Genomics for RFXANK Gene

GeneHancer (GH) Regulatory Elements for RFXANK Gene

Promoters and enhancers for RFXANK Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH19I019191 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 550.8 +0.5 452 2.9 HDGF PKNOX1 CLOCK SMAD1 ARNT ARID4B SIN3A DMAP1 ZNF2 IRF4 BORCS8 BORCS8-MEF2B RFXANK UPF1 ATP13A1 ENSG00000268030 MAU2 NR2C2AP IQCN ZNF90
GH19I018372 Promoter/Enhancer 2.9 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 10 -811.1 -811099 18 CLOCK MLX ZFP64 FEZF1 DMAP1 IRF4 YY1 SLC30A9 E2F8 ZNF143 GDF15 NR2C2AP ENSG00000268030 UPF1 ENSG00000268938 MEF2B COLGALT1 SUGP2 MVB12A IQCN
GH19I018436 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE dbSUPER 10 -752.7 -752697 6.5 HDGF PKNOX1 ZFP64 SIN3A FEZF1 ZNF2 ZBTB7B ZNF766 ZNF213 E2F8 ENSG00000268199 ISYNA1 ENSG00000268030 NR2C2AP IQCN ENSG00000268938 UPF1 MEF2B SSBP4 KXD1
GH19I019031 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE 10.2 -158.8 -158823 3.1 HDGF PKNOX1 ARNT ARID4B SIN3A DMAP1 SLC30A9 POLR2B E2F8 ZNF207 ARMC6 SUGP2 ATP13A1 TMEM161A MEF2B ENSG00000268030 NR2C2AP ENSG00000268938 UPF1 ENSG00000269191
GH19I018203 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE dbSUPER 10 -986.3 -986252 6.3 HDGF PKNOX1 CLOCK ARID4B SIN3A ZNF2 YY1 ZNF207 ZNF143 FOS LOC102725254 RAB3A IQCN UPF1 ENSG00000268030 PDE4C ENSG00000268938 NR2C2AP ENSG00000269191 COLGALT1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around RFXANK on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the RFXANK gene promoter:

Genomic Locations for RFXANK Gene

Genomic Locations for RFXANK Gene
chr19:19,192,199-19,201,869
(GRCh38/hg38)
Size:
9,671 bases
Orientation:
Plus strand
chr19:19,303,008-19,312,678
(GRCh37/hg19)

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

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins
  • Transcription factors

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).
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).
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.

Phenotypes From GWAS Catalog for RFXANK Gene

Gene Ontology (GO) - Molecular Function for RFXANK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
GO:0003700 DNA binding transcription factor activity NAS 9806546
GO:0003712 transcription cofactor activity TAS 10072068
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

Inhibitory RNA Products

Clone 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

Subcellular locations from the

Human Protein Atlas (HPA)

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 IEA --
GO:0005829 cytosol 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 by RNA polymerase II IBA --
GO:0007265 Ras protein signal transduction IEA --
GO:0045944 positive regulation of transcription by RNA polymerase II 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:

CRISPR Products

Inhibitory RNA Products

Clone 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 CGAP 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.

Evidence on tissue expression from TISSUES for RFXANK Gene

  • Blood(4.4)
  • Lung(2.8)
  • Heart(2.3)
  • Lymph node(2.3)
  • Muscle(2.3)
  • Skin(2.1)
  • Nervous system(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for RFXANK Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • immune
  • integumentary
  • nervous
  • respiratory
  • urinary
Organs:
Head and neck:
  • brain
  • head
  • larynx
  • meninges
  • neck
  • pharynx
Thorax:
  • bronchus
  • lung
  • trachea
Abdomen:
  • biliary tract
  • gallbladder
  • intestine
  • kidney
  • large intestine
  • liver
  • pancreas
  • small intestine
Pelvis:
  • ureter
  • urethra
  • urinary bladder
Limb:
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • nail
  • toe
  • upper limb
General:
  • blood
  • skin
  • white blood cell
genes like me logo Genes that share expression patterns with RFXANK: view

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
chimpanzee
(Pan troglodytes)
Mammalia RFXANK 33 34
  • 99.49 (n)
dog
(Canis familiaris)
Mammalia RFXANK 33 34
  • 86.41 (n)
cow
(Bos Taurus)
Mammalia RFXANK 33 34
  • 85.38 (n)
rat
(Rattus norvegicus)
Mammalia Rfxank 33
  • 83.85 (n)
mouse
(Mus musculus)
Mammalia Rfxank 33 16 34
  • 83.01 (n)
oppossum
(Monodelphis domestica)
Mammalia RFXANK 34
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RFXANK 34
  • 51 (a)
OneToOne
chicken
(Gallus gallus)
Aves RFXANK 33 34
  • 79.03 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia rfxank 33
  • 67.28 (n)
Str.7350 33
zebrafish
(Danio rerio)
Actinopterygii rfxank 33 34
  • 65.21 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG5846 33 34
  • 49.07 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009822 33
  • 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 Variation AA Info Type
rs10413280 uncertain-significance, MHC Class II Deficiency 19,201,731(+) C/T 3_prime_UTR_variant
rs104894709 pathogenic, Bare lymphocyte syndrome, type II, complementation group b 19,197,545(+) A/T coding_sequence_variant, missense_variant
rs1050483 likely-benign, MHC Class II Deficiency 19,192,993(+) T/C 5_prime_UTR_variant
rs113406972 uncertain-significance, MHC Class II Deficiency 19,201,701(+) G/A coding_sequence_variant, synonymous_variant
rs116660619 likely-benign, MHC Class II Deficiency 19,192,338(+) C/A 5_prime_UTR_variant, genic_upstream_transcript_variant, upstream_transcript_variant

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

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

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)

Additional Variant Information 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

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

Disorder Aliases PubMed IDs
bare lymphocyte syndrome, type ii
  • bls, type ii
acrocallosal syndrome
  • acls
mature b-cell neoplasm
  • mature b-cell lymphocytic neoplasm
bare lymphocyte syndrome, type i
  • bls, type i
splenic disease
  • dyssplenism
- 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:22649097, ECO:0000269 PubMed:9806546}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for 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 (Nature genetics 1998) 2 3 4 22 58
  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 UM … van den elsen PJ (Journal of immunology (Baltimore, Md. : 1950) 2000) 3 4 22 58
  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 UM … Boss JM (Immunity 1999) 2 3 4 58
  4. Ankyrin repeats of ANKRA2 recognize a PxLPxL motif on the 3M syndrome protein CCDC8. (PMID: 25752541) Nie J … Yang XJ (Structure (London, England : 1993) 2015) 3 4 58
  5. Sequence-specific recognition of a PxLPxI/L motif by an ankyrin repeat tumbler lock. (PMID: 22649097) Xu C … Min J (Science signaling 2012) 3 4 58

Products for RFXANK Gene

Sources for RFXANK Gene

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