Details for: RFXANK

Gene ID: 8625

Symbol: RFXANK

Ensembl ID: ENSG00000064490

Description: regulatory factor X associated ankyrin containing protein

Associated with

  • Cytosol
    (GO:0005829)
  • Dna-binding transcription activator activity, rna polymerase ii-specific
    (GO:0001228)
  • Histone deacetylase binding
    (GO:0042826)
  • Intercellular bridge
    (GO:0045171)
  • Nucleoplasm
    (GO:0005654)
  • Nucleus
    (GO:0005634)
  • Positive regulation of mhc class ii biosynthetic process
    (GO:0045348)
  • Positive regulation of transcription by rna polymerase ii
    (GO:0045944)
  • Protein binding
    (GO:0005515)
  • Ras protein signal transduction
    (GO:0007265)
  • Rna polymerase ii transcription regulator complex
    (GO:0090575)
  • Rna polymerase ii transcription regulatory region sequence-specific dna binding
    (GO:0000977)

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 105.9820
    Cell Significance Index: -16.4900
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 61.2967
    Cell Significance Index: -15.5500
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 52.8483
    Cell Significance Index: -21.4700
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 51.3002
    Cell Significance Index: -24.2200
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 46.6771
    Cell Significance Index: -24.0100
  • Cell Name: ileal goblet cell (CL1000326)
    Fold Change: 36.1538
    Cell Significance Index: -24.2600
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 22.8438
    Cell Significance Index: -21.8100
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 17.9204
    Cell Significance Index: -22.1000
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 6.6297
    Cell Significance Index: -17.7600
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 6.0491
    Cell Significance Index: -23.8700
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 5.8734
    Cell Significance Index: -18.0400
  • Cell Name: kidney cell (CL1000497)
    Fold Change: 2.5550
    Cell Significance Index: 20.4000
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 1.5265
    Cell Significance Index: 166.0400
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: 1.2901
    Cell Significance Index: 44.8300
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 1.2678
    Cell Significance Index: 206.2000
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: 1.1567
    Cell Significance Index: 33.9700
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 1.0133
    Cell Significance Index: 553.3800
  • Cell Name: skeletal muscle myoblast (CL0000515)
    Fold Change: 0.9934
    Cell Significance Index: 10.8000
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: 0.9636
    Cell Significance Index: 20.1700
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 0.9238
    Cell Significance Index: 59.6000
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.8153
    Cell Significance Index: 42.3500
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.7174
    Cell Significance Index: 33.4500
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 0.7094
    Cell Significance Index: 19.3100
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.6550
    Cell Significance Index: 77.2400
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.6192
    Cell Significance Index: 8.4500
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.5969
    Cell Significance Index: 41.2800
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.5918
    Cell Significance Index: 81.2700
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 0.5828
    Cell Significance Index: 41.2200
  • Cell Name: microcirculation associated smooth muscle cell (CL0008035)
    Fold Change: 0.5643
    Cell Significance Index: 4.7400
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.4872
    Cell Significance Index: 48.2000
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 0.4739
    Cell Significance Index: 12.4600
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: 0.4734
    Cell Significance Index: 24.6600
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: 0.4480
    Cell Significance Index: 5.0900
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.4388
    Cell Significance Index: 193.9900
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.4155
    Cell Significance Index: 375.1200
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.3901
    Cell Significance Index: 17.6800
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.3882
    Cell Significance Index: 49.7600
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 0.3854
    Cell Significance Index: 18.1100
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.3818
    Cell Significance Index: 46.9400
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.3797
    Cell Significance Index: 68.4400
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 0.3484
    Cell Significance Index: 45.0100
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.3386
    Cell Significance Index: 9.7600
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 0.2928
    Cell Significance Index: 21.8200
  • Cell Name: epithelial cell of uterus (CL0002149)
    Fold Change: 0.2750
    Cell Significance Index: 3.8200
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: 0.2037
    Cell Significance Index: 6.0000
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.1721
    Cell Significance Index: 4.8100
  • Cell Name: basal cell of epidermis (CL0002187)
    Fold Change: 0.1600
    Cell Significance Index: 2.4300
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.1590
    Cell Significance Index: 30.2500
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.1012
    Cell Significance Index: 3.2400
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: 0.0654
    Cell Significance Index: 0.9800
  • Cell Name: peg cell (CL4033014)
    Fold Change: 0.0606
    Cell Significance Index: 1.4000
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: 0.0559
    Cell Significance Index: 0.9400
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.0524
    Cell Significance Index: 10.4000
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: 0.0398
    Cell Significance Index: 30.1300
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.0075
    Cell Significance Index: 0.2000
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: 0.0049
    Cell Significance Index: 0.0900
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: 0.0033
    Cell Significance Index: 2.4200
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.0009
    Cell Significance Index: -0.0200
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0058
    Cell Significance Index: -10.9600
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0059
    Cell Significance Index: -1.0000
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: -0.0064
    Cell Significance Index: -2.3000
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: -0.0081
    Cell Significance Index: -5.5900
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.0117
    Cell Significance Index: -0.3000
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0126
    Cell Significance Index: -23.2500
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0150
    Cell Significance Index: -23.0800
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0160
    Cell Significance Index: -1.6300
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0205
    Cell Significance Index: -27.9000
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0276
    Cell Significance Index: -17.5100
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0306
    Cell Significance Index: -22.6300
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0379
    Cell Significance Index: -21.3900
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: -0.0381
    Cell Significance Index: -7.6400
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0469
    Cell Significance Index: -21.2900
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.0486
    Cell Significance Index: -3.0600
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0547
    Cell Significance Index: -34.1600
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0639
    Cell Significance Index: -18.3900
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.0657
    Cell Significance Index: -2.3100
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.0668
    Cell Significance Index: -7.7900
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.1006
    Cell Significance Index: -14.6300
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.1074
    Cell Significance Index: -12.3100
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: -0.1163
    Cell Significance Index: -1.4900
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -0.1179
    Cell Significance Index: -3.1600
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.1383
    Cell Significance Index: -29.1300
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.1855
    Cell Significance Index: -9.7400
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.1926
    Cell Significance Index: -15.2500
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.2237
    Cell Significance Index: -23.2900
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: -0.2241
    Cell Significance Index: -2.3200
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.2524
    Cell Significance Index: -19.3700
  • Cell Name: vascular lymphangioblast (CL0005022)
    Fold Change: -0.2719
    Cell Significance Index: -4.8100
  • Cell Name: mesodermal cell (CL0000222)
    Fold Change: -0.2847
    Cell Significance Index: -1.7800
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.2951
    Cell Significance Index: -18.1400
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.3228
    Cell Significance Index: -19.7900
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.3272
    Cell Significance Index: -18.3600
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.3660
    Cell Significance Index: -24.6100
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.3677
    Cell Significance Index: -18.5800
  • Cell Name: Sertoli cell (CL0000216)
    Fold Change: -0.3825
    Cell Significance Index: -5.3700
  • Cell Name: cortical thymic epithelial cell (CL0002364)
    Fold Change: -0.3887
    Cell Significance Index: -3.2200
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: -0.3964
    Cell Significance Index: -3.6500
  • Cell Name: glioblast (CL0000030)
    Fold Change: -0.4045
    Cell Significance Index: -2.5400
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -0.4091
    Cell Significance Index: -16.7600
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.4168
    Cell Significance Index: -10.4200

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** RFXANK is a member of the RFX family of transcription factors, which are characterized by their ability to bind to specific DNA sequences and regulate gene expression. The protein contains ankyrin repeats, which are involved in protein-protein interactions and DNA binding. RFXANK is specifically expressed in cells involved in immune responses, such as epithelial cells of the nephron, pro-T cells, and cortical thymic epithelial cells. Its expression is also observed in other cell types, including kidney cells, proerythroblast, and placental villous trophoblast. **Pathways and Functions:** RFXANK is involved in several key pathways, including: 1. **Positive Regulation of MHC Class II Biosynthetic Process:** RFXANK regulates the expression of MHC class II genes, which are essential for antigen presentation and immune response. 2. **Positive Regulation of Transcription by RNA Polymerase II:** RFXANK interacts with RNA polymerase II to regulate the transcription of various genes involved in immune responses. 3. **Regulation of Transcription by RNA Polymerase II:** RFXANK regulates the transcription of genes involved in immune responses, including those involved in inflammation and immune cell development. 4. **Histone Deacetylase Binding:** RFXANK interacts with histone deacetylases to regulate chromatin structure and gene expression. 5. **Ras Protein Signal Transduction:** RFXANK is involved in the regulation of Ras protein signal transduction, which is involved in cell growth and differentiation. **Clinical Significance:** RFXANK plays a crucial role in the regulation of immune responses and gene expression. Dysregulation of RFXANK has been implicated in various diseases, including: 1. **Autoimmune Diseases:** RFXANK is involved in the regulation of immune responses, and dysregulation of RFXANK has been implicated in autoimmune diseases, such as rheumatoid arthritis and lupus. 2. **Cancer:** RFXANK is involved in the regulation of cell growth and differentiation, and dysregulation of RFXANK has been implicated in cancer, including leukemia and lymphoma. 3. **Immunodeficiency Disorders:** RFXANK is involved in the regulation of immune responses, and dysregulation of RFXANK has been implicated in immunodeficiency disorders, such as severe combined immunodeficiency (SCID). In conclusion, RFXANK is a crucial regulator of immune responses and gene expression. Its dysregulation has been implicated in various diseases, highlighting the importance of understanding its role in immune regulation and disease pathogenesis.

Genular Protein ID: 3426588991

Symbol: RFXK_HUMAN

Name: DNA-binding protein RFXANK

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 9806546

Title: A gene encoding a novel RFX-associated transactivator is mutated in the majority of MHC class II deficiency patients.

PubMed ID: 9806546

DOI: 10.1038/3081

PubMed ID: 10072068

Title: RFX-B is the gene responsible for the most common cause of the bare lymphocyte syndrome, an MHC class II immunodeficiency.

PubMed ID: 10072068

DOI: 10.1016/s1074-7613(00)80016-3

PubMed ID: 11042152

Title: Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells.

PubMed ID: 11042152

DOI: 10.1101/gr.140200

PubMed ID: 15057824

Title: The DNA sequence and biology of human chromosome 19.

PubMed ID: 15057824

DOI: 10.1038/nature02399

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 20732328

Title: Solution structure of the heterotrimeric complex between the interaction domains of RFX5 and RFXAP from the RFX gene regulatory complex.

PubMed ID: 20732328

DOI: 10.1016/j.jmb.2010.08.025

PubMed ID: 25752541

Title: Ankyrin repeats of ANKRA2 recognize a PxLPxL motif on the 3M syndrome protein CCDC8.

PubMed ID: 25752541

DOI: 10.1016/j.str.2015.02.001

PubMed ID: 22649097

Title: Sequence-specific recognition of a PxLPxI/L motif by an ankyrin repeat tumbler lock.

PubMed ID: 22649097

DOI: 10.1126/scisignal.2002979

PubMed ID: 10725724

Title: 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.

PubMed ID: 10725724

DOI: 10.4049/jimmunol.164.7.3666

PubMed ID: 30170160

Title: MHC-II Deficiency Among Egyptians: Novel Mutations and Unique Phenotypes.

PubMed ID: 30170160

DOI: 10.1016/j.jaip.2018.07.046

PubMed ID: 37584719

Title: Clinical, Immunological, and Genetic Findings in Iranian Patients with MHC-II Deficiency: Confirmation of c.162delG RFXANK Founder Mutation in the Iranian Population.

PubMed ID: 37584719

DOI: 10.1007/s10875-023-01562-z

Sequence Information:

  • Length: 260
  • Mass: 28102
  • Checksum: 6280B490F54816D2
  • Sequence:
  • MELTQPAEDL IQTQQTPASE LGDPEDPGEE AADGSDTVVL SLFPCTPEPV NPEPDASVSS 
    PQAGSSLKHS TTLTNRQRGN EVSALPATLD SLSIHQLAAQ GELDQLKEHL RKGDNLVNKP 
    DERGFTPLIW ASAFGEIETV RFLLEWGADP HILAKERESA LSLASTGGYT DIVGLLLERD 
    VDINIYDWNG GTPLLYAVRG NHVKCVEALL ARGADLTTEA DSGYTPMDLA VALGYRKVQQ 
    VIENHILKLF QSNLVPADPE

Genular Protein ID: 2764746084

Symbol: A0A024R7P0_HUMAN

Name: N/A

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 11237011

Title: Initial sequencing and analysis of the human genome.

PubMed ID: 11237011

DOI: 10.1038/35057062

PubMed ID: 11181995

Title: The sequence of the human genome.

PubMed ID: 11181995

DOI: 10.1126/science.1058040

PubMed ID: 15057824

Title: The DNA sequence and biology of human chromosome 19.

PubMed ID: 15057824

DOI: 10.1038/nature02399

PubMed ID: 15496913

Title: Finishing the euchromatic sequence of the human genome.

PubMed ID: 15496913

DOI: 10.1038/nature03001

Sequence Information:

  • Length: 237
  • Mass: 25580
  • Checksum: 07F695BE877861A2
  • Sequence:
  • MELTQPAEDL IQTQQTPASE LGDPEDPGEE AADGSDTVVL SLFPCTPEPV NPEPDASVSS 
    PQGSSLKHST TLTNRQRGNE VSALPATLDC DNLVNKPDER GFTPLIWASA FGEIETVRFL 
    LEWGADPHIL AKERESALSL ASTGGYTDIV GLLLERDVDI NIYDWNGGTP LLYAVRGNHV 
    KCVEALLARG ADLTTEADSG YTPMDLAVAL GYRKVQQVIE NHILKLFQSN LVPADPE

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.