Details for: RFX4

Gene ID: 5992

Symbol: RFX4

Ensembl ID: ENSG00000111783

Description: regulatory factor X4

Associated with

  • Chromatin
    (GO:0000785)
  • Cilium assembly
    (GO:0060271)
  • Dna-binding transcription activator activity, rna polymerase ii-specific
    (GO:0001228)
  • Dna-binding transcription factor activity, rna polymerase ii-specific
    (GO:0000981)
  • Negative regulation of smoothened signaling pathway
    (GO:0045879)
  • Nucleus
    (GO:0005634)
  • Positive regulation of transcription by rna polymerase ii
    (GO:0045944)
  • Protein binding
    (GO:0005515)
  • Regulation of protein processing
    (GO:0070613)
  • Regulation of transcription by rna polymerase ii
    (GO:0006357)
  • Rna polymerase ii cis-regulatory region sequence-specific dna binding
    (GO:0000978)
  • Sequence-specific double-stranded dna binding
    (GO:1990837)
  • Telencephalon development
    (GO:0021537)

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: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 83.1088
    Cell Significance Index: -21.0800
  • Cell Name: hippocampal astrocyte (CL0002604)
    Fold Change: 8.4800
    Cell Significance Index: 118.5800
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 1.7522
    Cell Significance Index: 66.3500
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 1.6601
    Cell Significance Index: 73.4300
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 1.0048
    Cell Significance Index: 61.7600
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: 0.9161
    Cell Significance Index: 15.8400
  • Cell Name: mature astrocyte (CL0002627)
    Fold Change: 0.8612
    Cell Significance Index: 9.5700
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: 0.6400
    Cell Significance Index: 15.3500
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.4297
    Cell Significance Index: 86.1900
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: 0.3922
    Cell Significance Index: 26.3700
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.1883
    Cell Significance Index: 67.5500
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.1271
    Cell Significance Index: 87.9000
  • Cell Name: obsolete epithelial cell of alveolus of lung (CL0010003)
    Fold Change: 0.1031
    Cell Significance Index: 2.5700
  • Cell Name: glioblast (CL0000030)
    Fold Change: 0.0557
    Cell Significance Index: 0.3500
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: 0.0541
    Cell Significance Index: 1.3900
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0000
    Cell Significance Index: -0.0300
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0013
    Cell Significance Index: -2.4300
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: -0.0034
    Cell Significance Index: -0.0300
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0072
    Cell Significance Index: -13.1900
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0096
    Cell Significance Index: -13.1200
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: -0.0221
    Cell Significance Index: -4.3800
  • Cell Name: astrocyte (CL0000127)
    Fold Change: -0.0236
    Cell Significance Index: -0.2700
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0276
    Cell Significance Index: -17.5500
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0286
    Cell Significance Index: -21.0100
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.0344
    Cell Significance Index: -0.5900
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0349
    Cell Significance Index: -26.3900
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: -0.0369
    Cell Significance Index: -20.1700
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0422
    Cell Significance Index: -31.2800
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0475
    Cell Significance Index: -21.5700
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0556
    Cell Significance Index: -31.3700
  • Cell Name: odontoblast (CL0000060)
    Fold Change: -0.0558
    Cell Significance Index: -7.1600
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0601
    Cell Significance Index: -37.5000
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0631
    Cell Significance Index: -18.1600
  • Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: -0.0761
    Cell Significance Index: -1.8400
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0905
    Cell Significance Index: -13.1600
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: -0.0972
    Cell Significance Index: -17.5200
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.1009
    Cell Significance Index: -2.8200
  • Cell Name: radial glial cell (CL0000681)
    Fold Change: -0.1146
    Cell Significance Index: -0.6800
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.1336
    Cell Significance Index: -15.5700
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.1479
    Cell Significance Index: -18.1800
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.1511
    Cell Significance Index: -20.7500
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.1512
    Cell Significance Index: -31.8500
  • Cell Name: neural cell (CL0002319)
    Fold Change: -0.1714
    Cell Significance Index: -2.0000
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.1835
    Cell Significance Index: -31.3300
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.2014
    Cell Significance Index: -20.5700
  • Cell Name: melanocyte of skin (CL1000458)
    Fold Change: -0.2019
    Cell Significance Index: -2.8300
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.2027
    Cell Significance Index: -21.1100
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.2098
    Cell Significance Index: -3.0100
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.2111
    Cell Significance Index: -24.8900
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.2145
    Cell Significance Index: -4.4900
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.2177
    Cell Significance Index: -24.9400
  • Cell Name: slow muscle cell (CL0000189)
    Fold Change: -0.2493
    Cell Significance Index: -3.7300
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.2592
    Cell Significance Index: -19.8900
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.2670
    Cell Significance Index: -21.1500
  • Cell Name: fast muscle cell (CL0000190)
    Fold Change: -0.2718
    Cell Significance Index: -3.5600
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.2821
    Cell Significance Index: -15.8300
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.2877
    Cell Significance Index: -7.8300
  • Cell Name: skeletal muscle fibroblast (CL0011027)
    Fold Change: -0.3217
    Cell Significance Index: -2.1800
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.3393
    Cell Significance Index: -11.1100
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.3503
    Cell Significance Index: -18.3900
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.3554
    Cell Significance Index: -11.3200
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.3996
    Cell Significance Index: -14.0000
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.3997
    Cell Significance Index: -25.1900
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.4091
    Cell Significance Index: -26.3900
  • Cell Name: myeloid dendritic cell (CL0000782)
    Fold Change: -0.4220
    Cell Significance Index: -3.3100
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.4245
    Cell Significance Index: -9.0100
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.4275
    Cell Significance Index: -22.2700
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.4506
    Cell Significance Index: -21.1800
  • Cell Name: stromal cell of endometrium (CL0002255)
    Fold Change: -0.4612
    Cell Significance Index: -6.5600
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.4759
    Cell Significance Index: -13.5800
  • Cell Name: tendon cell (CL0000388)
    Fold Change: -0.4839
    Cell Significance Index: -6.5800
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: -0.4915
    Cell Significance Index: -10.6200
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -0.4946
    Cell Significance Index: -9.9300
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: -0.5330
    Cell Significance Index: -10.5400
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.5422
    Cell Significance Index: -18.8400
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: -0.5725
    Cell Significance Index: -14.2800
  • Cell Name: neuron (CL0000540)
    Fold Change: -0.5918
    Cell Significance Index: -5.6100
  • Cell Name: skeletal muscle myoblast (CL0000515)
    Fold Change: -0.6025
    Cell Significance Index: -6.5500
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: -0.6497
    Cell Significance Index: -13.5600
  • Cell Name: osteoblast (CL0000062)
    Fold Change: -0.6648
    Cell Significance Index: -6.4500
  • Cell Name: group 3 innate lymphoid cell, human (CL0001078)
    Fold Change: -0.7013
    Cell Significance Index: -6.5700
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.7118
    Cell Significance Index: -25.0100
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.7172
    Cell Significance Index: -21.1300
  • Cell Name: fibroblast of connective tissue of glandular part of prostate (CL1000305)
    Fold Change: -0.7197
    Cell Significance Index: -7.9500
  • Cell Name: fibroblast of connective tissue of nonglandular part of prostate (CL1000304)
    Fold Change: -0.7265
    Cell Significance Index: -7.9300
  • Cell Name: ependymal cell (CL0000065)
    Fold Change: -0.7341
    Cell Significance Index: -8.6500
  • Cell Name: ionocyte (CL0005006)
    Fold Change: -0.7565
    Cell Significance Index: -7.9100
  • Cell Name: nasal mucosa goblet cell (CL0002480)
    Fold Change: -0.7579
    Cell Significance Index: -7.7300
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.7647
    Cell Significance Index: -21.9200
  • Cell Name: L5/6 near-projecting glutamatergic neuron (CL4030067)
    Fold Change: -0.7734
    Cell Significance Index: -4.0500
  • Cell Name: neuroblast (sensu Vertebrata) (CL0000031)
    Fold Change: -0.7978
    Cell Significance Index: -5.1900
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.8203
    Cell Significance Index: -42.6100
  • Cell Name: connective tissue cell (CL0002320)
    Fold Change: -0.8226
    Cell Significance Index: -7.9300
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: -0.8247
    Cell Significance Index: -16.7800
  • Cell Name: macroglial cell (CL0000126)
    Fold Change: -0.8274
    Cell Significance Index: -9.5800
  • Cell Name: retinal astrocyte (CL4033015)
    Fold Change: -0.8439
    Cell Significance Index: -8.2600
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.8498
    Cell Significance Index: -22.6900
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: -0.8559
    Cell Significance Index: -24.6600
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: -0.8632
    Cell Significance Index: -16.9900
  • Cell Name: L6 intratelencephalic projecting glutamatergic neuron of the primary motor cortex (CL4023050)
    Fold Change: -0.8658
    Cell Significance Index: -11.5500

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:** RFX4 is a member of the RFX family of transcription factors, characterized by its ability to bind to specific DNA sequences and regulate gene expression. The protein exhibits a high degree of sequence similarity to other RFX family members and shares functional properties, including DNA-binding activity and transcriptional activation capabilities. RFX4 is primarily expressed in mature astrocytes, astrocyte precursors, and cells involved in the development of the telencephalon. Its expression is also observed in other cell types, including kidney proximal convoluted tubule epithelial cells, cardiac endothelial cells, and goblet cells. **Pathways and Functions:** RFX4 is involved in various cellular processes, including: 1. **Chromatin assembly**: RFX4 regulates chromatin structure and organization, influencing gene expression and cellular differentiation. 2. **Cilium assembly**: RFX4 is required for the assembly and maintenance of cilia, which are essential for sensory perception and cell signaling. 3. **DNA-binding transcription activator activity**: RFX4 activates transcription of target genes by binding to specific DNA sequences and recruiting co-regulatory factors. 4. **Positive regulation of transcription by RNA polymerase II**: RFX4 enhances the transcriptional activity of RNA polymerase II, a key enzyme responsible for mRNA synthesis. 5. **Regulation of protein processing**: RFX4 modulates protein expression and processing, influencing cellular signaling pathways and immune responses. **Clinical Significance:** RFX4's role in regulating immune responses and cellular differentiation makes it a potential target for therapeutic interventions in various diseases, including: 1. **Neurological disorders**: RFX4's involvement in telencephalon development and astrocyte function suggests its potential role in neurodegenerative diseases, such as Alzheimer's and Parkinson's. 2. **Immunological disorders**: RFX4's regulation of immune cell function and cytokine production implies its involvement in autoimmune diseases, such as multiple sclerosis and rheumatoid arthritis. 3. **Cancer**: RFX4's expression in various cancer cell types, including pancreatic and kidney cancer, suggests its potential role in tumorigenesis and cancer progression. In conclusion, RFX4 is a multifunctional transcription factor that plays a critical role in regulating cellular processes, including immune responses, cell differentiation, and development. Further research is needed to fully elucidate the mechanisms of RFX4's action and its clinical significance in various diseases.

Genular Protein ID: 3769484405

Symbol: RFX4_HUMAN

Name: Transcription factor RFX4

UniProtKB Accession Codes:

Q33E94 A8K5Y0 B2RDW4 Q33DW6 Q33DW7 Q33E95 Q6YM53 Q8MHQ1 Q8NC78 Q8NDF9 Q8SNA1 Q96S80 Q9BXI0

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 3 CTD 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 18 Ensembl 3 ExpressionAtlas 1 GO 12 Gene3D 1 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 4 KEGG 1 MANE-Select 1 MIM 1 MINT 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 OrthoDB 1 PANTHER 2 PRO 1 PROSITE 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 Proteomes 1 ProteomicsDB 4 RNAct 1 RefSeq 3 SIGNOR 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 neXtProt 1

Citations:

PubMed ID: 12925582

Title: Graded phenotypic response to partial and complete deficiency of a brain-specific transcript variant of the winged helix transcription factor RFX4.

PubMed ID: 12925582

DOI: 10.1242/dev.00661

PubMed ID: 16271074

Title: Identification of glioma-specific RFX4-E and -F isoforms and humoral immune response in patients.

PubMed ID: 16271074

DOI: 10.1111/j.1349-7006.2005.00112.x

PubMed ID: 16193984

Title: Identification of a novel substrate for tyrosine kinase in human testes.

PubMed ID: 16193984

DOI: 10.1166/jnn.2005.212

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 16541075

Title: The finished DNA sequence of human chromosome 12.

PubMed ID: 16541075

DOI: 10.1038/nature04569

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: 11682486

Title: Human regulatory factor X 4 (RFX4) is a testis-specific dimeric DNA-binding protein that cooperates with other human RFX members.

PubMed ID: 11682486

DOI: 10.1074/jbc.m108638200

PubMed ID: 17974005

Title: The full-ORF clone resource of the German cDNA consortium.

PubMed ID: 17974005

DOI: 10.1186/1471-2164-8-399

Sequence Information:

  • Length: 735
  • Mass: 83368
  • Checksum: 9C2422428B9D7E8B
  • Sequence:
    • MHCGLLEEPD MDSTESWIER CLNESENKRY SSHTSLGNVS NDENEEKENN RASKPHSTPA 
TLQWLEENYE IAEGVCIPRS ALYMHYLDFC EKNDTQPVNA ASFGKIIRQQ FPQLTTRRLG 
TRGQSKYHYY GIAVKESSQY YDVMYSKKGA AWVSETGKKE VSKQTVAYSP RSKLGTLLPE 
FPNVKDLNLP ASLPEEKVST FIMMYRTHCQ RILDTVIRAN FDEVQSFLLH FWQGMPPHML 
PVLGSSTVVN IVGVCDSILY KAISGVLMPT VLQALPDSLT QVIRKFAKQL DEWLKVALHD 
LPENLRNIKF ELSRRFSQIL RRQTSLNHLC QASRTVIHSA DITFQMLEDW RNVDLNSITK 
QTLYTMEDSR DEHRKLITQL YQEFDHLLEE QSPIESYIEW LDTMVDRCVV KVAAKRQGSL 
KKVAQQFLLM WSCFGTRVIR DMTLHSAPSF GSFHLIHLMF DDYVLYLLES LHCQERANEL 
MRAMKGEGST AEVREEIILT EAAAPTPSPV PSFSPAKSAT SVEVPPPSSP VSNPSPEYTG 
LSTTGAMQSY TWSLTYTVTT AAGSPAENSQ QLPCMRNTHV PSSSVTHRIP VYPHREEHGY 
TGSYNYGSYG NQHPHPMQSQ YPALPHDTAI SGPLHYAPYH RSSAQYPFNS PTSRMEPCLM 
SSTPRLHPTP VTPRWPEVPS ANTCYTSPSV HSARYGNSSD MYTPLTTRRN SEYEHMQHFP 
GFAYINGEAS TGWAK

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.