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
External Ids for RFXANK Gene
- HGNC: 9987
- Entrez Gene: 8625
- Ensembl: ENSG00000064490
- OMIM: 603200
- UniProtKB: O14593
Previous GeneCards Identifiers for RFXANK Gene
- GC19P019797
- GC19P019694
- GC19P019148
- GC19P019164
- GC19P019303
- GC19P018866
Summaries 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 Mature B-Cell Neoplasm. Among its related pathways are Signaling events mediated by HDAC Class II and Tuberculosis. 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.
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.
Additional gene information for RFXANK Gene
- Monarch Initiative
- Search for RFXANK at DataMed
- Search for RFXANK at HumanCyc
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
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)
GeneHancers around RFXANK on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the RFXANK gene promoter:
-
- Roaz
- c-Ets-1
- AREB6
- MIF-1
- CREB
- SRF
- SRF (504 AA)
- SREBP-1a
- SREBP-1b
- SREBP-1c
Regulatory Element Products
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)
- 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:
-
- 19p13.11 by Entrez Gene
- 19p13.11 by HGNC
- 19p13.11 by Ensembl
RFXANK Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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).
Protein Expression for RFXANK Gene
Post-translational modifications for RFXANK Gene
- Phosphorylated by RAF1.
- Ubiquitination at Lys96, Lys204, and posLast=155155
- Modification sites at PhosphoSitePlus
Other Protein References for RFXANK Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for RFXANK
- Invitrogen Antibodies for RFXANK
- GeneTex RFXANK Antibody for RFXANK
-
Santa Cruz Biotechnology (SCBT) Antibodies for RFXANK
Protein Products
-
OriGene Purified Proteins for RFXANK
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- ProSpec Recombinant Proteins for RFXANK
- antibodies-online: Search results for 6 available RFXANK Proteins ranked by validation data
- Compare Top RFXANK Proteins
-
Quality Products:
- Search GeneTex for Proteins for RFXANK
-
Abcam proteins for RFXANK
Assay Products
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
Protein Domains for RFXANK Gene
- Blocks:
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for RFXANK Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
O14593UniProtKB/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).
Function for RFXANK Gene
Molecular function for RFXANK Gene
- 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.
- GENATLAS Biochemistry:
- transactivating DNA binding regulator,28kDa,component of the RFX complex,involved in MHC class II expression
Phenotypes From GWAS Catalog 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 coregulator activity | TAS | 10072068 |
| GO:0005515 | protein binding | IEA | -- |
| GO:0042826 | histone deacetylase binding | IEA | -- |
Phenotypes for RFXANK Gene
Animal Model Products
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-
CRISPR Products
-
OriGene CRISPR knockouts for RFXANK
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-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for RFXANK
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miRNA for RFXANK Gene
- miRTarBase miRNAs that target RFXANK
miRNA Products
Inhibitory RNA Products
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- genomics-online: shRNA clones - Search results for available RFXANK gene related products
Clone Products
- Sino Biological Human cDNA Clone for RFXANK
- VectorBuilder custom plasmid, inducible vectors for RFXANK
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for RFXANK
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for RFXANK
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for RFXANK
- genomics-online: cdna clones - Search results for available RFXANK gene related products
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- Applied Biological Materials Clones for RFXANK
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for RFXANK
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.
| Compartment | Confidence |
|---|---|
| extracellular | 5 |
| nucleus | 5 |
| cytosol | 5 |
| endosome | 1 |
- Nucleoplasm (4)
| 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 | -- |
Pathways & Interactions for RFXANK Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Allograft rejection | ||
| 2 | Primary immunodeficiency | ||
| 3 | Tuberculosis | ||
| 4 | Signaling events mediated by HDAC Class II | ||
Pathways by source for RFXANK Gene
1 BioSystems pathway for RFXANK Gene
3 KEGG pathways for RFXANK Gene
Interacting Proteins for RFXANK Gene
GPS-Prot Interaction Network for RFXANK
| 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 | -- |
No data available for SIGNOR curated interactions for RFXANK Gene
Transcripts for RFXANK Gene
mRNA/cDNA for RFXANK Gene
- (11) REFSEQ mRNAs :
- (9) Additional mRNA sequences :
- (245) Selected AceView cDNA sequences:
- (15) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000421262 856 bps (uc060vye.1)
- ENST00000303088 1407 bps (uc002nls.4)
- ENST00000456252 1325 bps (uc002nlu.4)
- ENST00000593273 865 bps (uc060vyf.1)
- ENST00000407360 1212 bps (uc002nlv.5)
Unigene Clusters for RFXANK Gene
- Regulatory factor X-associated ankyrin-containing protein:
- Representative Sequences:
CRISPR Products
-
OriGene CRISPR knockouts for RFXANK
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for RFXANK
- genomics-online: gRNA clones - Search results for available RFXANK gene related products
- Applied Biological Materials CRISPR for RFXANK
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for RFXANK
- GenScript: Design CRISPR guide RNA sequences for RFXANK
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for RFXANK
- Browse OriGene Inhibitory RNA Products For RFXANK
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RFXANK
- genomics-online: shRNA clones - Search results for available RFXANK gene related products
Clone Products
- Sino Biological Human cDNA Clone for RFXANK
- VectorBuilder custom plasmid, inducible vectors for RFXANK
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for RFXANK
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for RFXANK
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for RFXANK
- genomics-online: cdna clones - Search results for available RFXANK gene related products
- orf clones - Search results for available RFXANK gene related products
- Applied Biological Materials Clones for RFXANK
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| ExUns: | 1a | · | 1b | · | 1c | · | 1d | ^ | 2a | · | 2b | · | 2c | · | 2d | ^ | 3a | · | 3b | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7a | · | 7b | ^ | 8a | · | 8b | ^ | 9a | · | 9b | ^ | 10 | ^ | 11 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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| SP3: | - | ||||||||||||||||||||||||||||||||||||||||
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| SP6: | - | - | |||||||||||||||||||||||||||||||||||||||
| SP7: | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||
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| SP9: | - | - | - | ||||||||||||||||||||||||||||||||||||||
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| SP11: |
Expression for RFXANK Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Blood (Hematopoietic System)
- Hematopoietic Stem Cells Hematopoietic Bone Marrow
-
Lymph (Hematopoietic System)
This gene is overexpressed in Lymph node (57.9).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for RFXANK Gene
NURSA nuclear receptor signaling pathways regulating expression of RFXANK Gene:
RFXANKSOURCE GeneReport for Unigene cluster for RFXANK Gene:
Hs.296776mRNA 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
Regions:
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
Primer Products
-
OriGene qPCR primer pairs and template standards for RFXANK
-
OriGene qPCR primer pairs for RFXANK
- genomics-online: primer clones - Search results for available RFXANK gene related products
Gene Expression Assay 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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | RFXANK 34 33 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | RFXANK 34 33 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | RFXANK 34 33 |
|
OneToOne | |
| rat (Rattus norvegicus) |
Mammalia | Rfxank 33 |
|
||
| mouse (Mus musculus) |
Mammalia | Rfxank 16 34 33 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | RFXANK 34 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | RFXANK 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | RFXANK 34 33 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | rfxank 33 |
|
||
| Str.7350 33 |
|
||||
| zebrafish (Danio rerio) |
Actinopterygii | rfxank 34 33 |
|
OneToOne | |
| fruit fly (Drosophila melanogaster) |
Insecta | CG5846 34 33 |
|
OneToMany | |
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP009822 33 |
|
- 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)
- Aminode:
- Evolutionary constrained regions (ECRs) for RFXANK: view image
Paralogs for RFXANK Gene
(5) SIMAP similar genes for RFXANK Gene using alignment to 9 proteins:
- RFXK_HUMAN
- F5GY33_HUMAN
- F5H7D2_HUMAN
- H0YFU5_HUMAN
- H0YFZ0_HUMAN
- H0YGQ6_HUMAN
- K7ENE6_HUMAN
- Q24JQ1_HUMAN
- Q6IB23_HUMAN
Variants 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 |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| nsv1151217 | CNV | deletion | 26484159 |
| nsv833779 | CNV | loss | 17160897 |
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
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RFXANK Gene
Disorders for RFXANK Gene
(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 |
|
|
| mature b-cell neoplasm |
|
|
| acrocallosal syndrome |
|
|
| bare lymphocyte syndrome, type i |
|
|
| splenic disease |
|
|
Search RFXANK in MalaCards
View complete list of genes associated with diseases
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
- Genetic Association Database
- (GAD)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for RFXANK Gene
Publications for RFXANK Gene
- 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
- 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
- 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
- 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
- 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
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- Browse R&D Systems for biochemical assays
- Browse Human Proteins and Enzymes
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- Browse Activity Assays
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- Browse DNA Damage and Repair Kits
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- Custom Antibody ServicesOriGene Antibodies for RFXANK
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- Origene Custom Protein Services for RFXANK
- Origene shrna, sirna, and RNAi products in human, mouse, rat for RFXANK
- Browse OriGene Inhibitory RNA Products For RFXANK
- OriGene qPCR primer pairs and template standards for RFXANK
- OriGene qPCR primer pairs for RFXANK
- OriGene CRISPR knockouts for RFXANK
- OriGene ORF clones in human for RFXANK
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For RFXANK
- GenScript: Next-day shipping of latest version cDNA ORF clones for RFXANK in any vector
- GenScript Custom Purified and Recombinant Proteins Services for RFXANK
- GenScript Custom Assay Services for RFXANK
- GenScript Custom overexpressing Cell Line Services for RFXANK
- GenScript: Design CRISPR guide RNA sequences for RFXANK
- Design optimal peptide antigens
- CloneReady with Over 120,000 Genes
- Gene Synthesis: Any Gene in Any Vector
- Vector-based siRNA and miRNA, Ready for Transfection
- Gene Mutant Library, Variants up to 10^11
- Plasmid Preparation
- GenScript Custom Peptide Services for RFXANK
- Sino Biological Human cDNA Clone for RFXANK
- Browse Sino Biological Recombinant Proteins
- Browse Sino Biological Cell Lysates
- Browse Sino Biological Antibodies
- Browse Sino Biological Assays
- Browse cDNA Clones
- Browse ELISA Kits
- Browse CRO Services
- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
- Lentiviral ORF Clones
- Novus Biologicals Antibodies for RFXANK
- Novus Biologicals lysates and proteins for RFXANK
- Novus Biologicals
- Novus Biologicals Tissue Microarrays
- Browse Antibodies
- Browse Peptides and Proteins
- Browse Lysates
- Browse ELISA Kits
- Abcam proteins for RFXANK
- Find your target
- Browse Primary Antibodies
- Browse Conjugated Primary Antibodies
- Browse Secondary Antibodies
- Browse ELISA Kits
- Browse Matched Antibody Pairs
- Browse Proteins and Peptides
- Search Knockout (KO) Validated Antibodies
- Browse Monoclonal Antibodies
- Browse Recombinant Antibodies
- ProSpec Recombinant Proteins for RFXANK
- Cyagen custom Knockout/knockin (KOKI) mouse models for RFXANK
- VectorBuilder custom plasmid, inducible vectors for RFXANK
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for RFXANK
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for RFXANK
- antibodies-online: Search results for 66 available RFXANK Antibodies ranked by validation data
- Compare Top RFXANK Antibodies
- antibodies-online: Search results for available RFXANK related products ranked by validation data
- antibodies-online: Search results for 6 available RFXANK Proteins ranked by validation data
- Compare Top RFXANK Proteins
- Quality Products:
- GeneTex RFXANK Antibody for RFXANK
- Search GeneTex for Proteins for RFXANK
- Santa Cruz Biotechnology (SCBT) Antibodies for RFXANK
- Search Santa Cruz Biotechnology (SCBT) for RFXANK siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for RFXANK
- Horizon Cell Lines for RFXANK
- genomics-online: cdna clones - Search results for available RFXANK gene related products
- orf clones - Search results for available RFXANK gene related products
- genomics-online: gRNA clones - Search results for available RFXANK gene related products
- genomics-online: primer clones - Search results for available RFXANK gene related products
- genomics-online: shRNA clones - Search results for available RFXANK gene related products
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for RFXANK
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for RFXANK
- GeneCopoeia miRNA 3'UTR Target clone products for RFXANK
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RFXANK
Sources for RFXANK Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
- (87) BioSystems
- (88) MaxQB
- (89) IUPHAR
- (90) BioGPS
- (91) Illumina
- (92) COMPARTMENTS
- (93) HOMER
- (94) PaxDb
- (95) ApexBio
- (96) Addgene
- (97) antibodies-online
- (98) CYP
- (99) NONCODE
- (100) SwitchGear Genomics
- (101) TreeFam
- (102) PathCards
- (103) GeneReviews
- (104) GeneTex
- (105) Taconic Biosciences
- (106) GTEx
- (107) ProteomicsDB
- (108) SCBT
- (109) DGIdb
- (110) ClinicalTrials
- (111) FDA Approved Drugs
- (112) RVIS
- (113) SIGNOR
- (114) diseasecard
- (115) NIH Rare Diseases
- (116) Orphanet
- (117) UMLS
- (118) GTR
- (119) Disease Ontology
- (120) Genetics Home Reference
- (121) MeSH
- (122) MedlinePlus
- (123) CDC
- (124) NINDS
- (125) NCBI Bookshelf
- (126) ClinVar
- (127) Gene Damage Index
- (128) ViGene Biosciences
- (129) HPO
- (130) UDN
- (131) VISTA
- (132) FANTOM5
- (133) ENCODE
- (134) ProSci
- (135) Horizon
- (136) NURSA
- (137) IID
- (138) Cyagen
- (139) VectorBuilder
- (140) SNPedia
- (141) BRCA Exchange
- (142) St John's Lab
- (143) CIViC
- (144) ProteoGenix
- (145) dbSUPER
- (146) TISSUES
- (147) Gene ORGANizer
- (148) abm
- (149) CrownBio
- (150) Human Protein Atlas
- (151) GWAS Catalog
- (152) Monarch Initiative
- (153) DataMed
- (154) HumanCyc
- (155) genomics-online
- (156) UCNEbase
- (157) EPDnew
- (158) Applied Biosystems
- (159) GlyConnect
- (160) Aminode
- (161) GeneCopoeia
- (162) GPS-Prot
- (163) RNACentral
- (164) LncRNADisease
- (165) LOVD
- (166) miR2Disease
- (167) DiseaseEnhancer
- (168) Boster Bio
- (169) Biorbyt