Details for: IRF6

Gene ID: 3664

Symbol: IRF6

Ensembl ID: ENSG00000117595

Description: interferon regulatory factor 6

Associated with

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: 98.4280
    Cell Significance Index: -15.3100
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 60.5969
    Cell Significance Index: -15.3700
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 29.1933
    Cell Significance Index: -11.8600
  • Cell Name: stem cell of epidermis (CL1000428)
    Fold Change: 16.1230
    Cell Significance Index: 47.9500
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 12.4254
    Cell Significance Index: -15.3200
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 12.4012
    Cell Significance Index: -11.8400
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 8.8860
    Cell Significance Index: 241.8700
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 8.2910
    Cell Significance Index: 113.1200
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 6.0567
    Cell Significance Index: -16.2300
  • Cell Name: epidermal cell (CL0000362)
    Fold Change: 5.5844
    Cell Significance Index: 12.5900
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 5.4853
    Cell Significance Index: 284.9500
  • Cell Name: proerythroblast (CL0000547)
    Fold Change: 4.7058
    Cell Significance Index: 67.4400
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: 4.0776
    Cell Significance Index: 58.0500
  • Cell Name: luminal hormone-sensing cell of mammary gland (CL4033058)
    Fold Change: 2.7372
    Cell Significance Index: 16.8500
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 2.5110
    Cell Significance Index: 408.3900
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 2.1367
    Cell Significance Index: 96.8500
  • Cell Name: epithelial cell of urethra (CL1000296)
    Fold Change: 2.0222
    Cell Significance Index: 12.5200
  • Cell Name: epithelial cell of pancreas (CL0000083)
    Fold Change: 1.9185
    Cell Significance Index: 31.6200
  • Cell Name: cortical thymic epithelial cell (CL0002364)
    Fold Change: 1.8064
    Cell Significance Index: 14.9400
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 1.6303
    Cell Significance Index: 293.8900
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 1.6176
    Cell Significance Index: 198.9000
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: 1.5977
    Cell Significance Index: 23.9400
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 1.5317
    Cell Significance Index: 166.6000
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 1.5284
    Cell Significance Index: 44.0400
  • Cell Name: luminal cell of prostate epithelium (CL0002340)
    Fold Change: 1.5084
    Cell Significance Index: 15.6100
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 1.4629
    Cell Significance Index: 109.0300
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: 1.4285
    Cell Significance Index: 13.1600
  • Cell Name: epithelial cell of lacrimal sac (CL1000436)
    Fold Change: 1.4244
    Cell Significance Index: 10.2500
  • Cell Name: oral mucosa squamous cell (CL1001576)
    Fold Change: 1.3965
    Cell Significance Index: 12.0000
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 1.0130
    Cell Significance Index: 447.8900
  • Cell Name: medium spiny neuron (CL1001474)
    Fold Change: 0.9556
    Cell Significance Index: 12.9000
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.9525
    Cell Significance Index: 20.6400
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.8673
    Cell Significance Index: 59.9800
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 0.8504
    Cell Significance Index: 109.8700
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 0.7630
    Cell Significance Index: 53.9600
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.7584
    Cell Significance Index: 20.2500
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.7237
    Cell Significance Index: 653.4800
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.6528
    Cell Significance Index: 64.5800
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 0.5940
    Cell Significance Index: -1.3000
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.5596
    Cell Significance Index: 15.6400
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.5485
    Cell Significance Index: 13.7100
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.5480
    Cell Significance Index: 11.6700
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.4792
    Cell Significance Index: 261.6900
  • Cell Name: columnar/cuboidal epithelial cell (CL0000075)
    Fold Change: 0.4753
    Cell Significance Index: 1.8200
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.4217
    Cell Significance Index: 19.6600
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 0.4021
    Cell Significance Index: 18.9000
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.3729
    Cell Significance Index: 70.9700
  • Cell Name: taste receptor cell (CL0000209)
    Fold Change: 0.3260
    Cell Significance Index: 3.7900
  • Cell Name: large intestine goblet cell (CL1000320)
    Fold Change: 0.3202
    Cell Significance Index: 3.4700
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 0.3201
    Cell Significance Index: 6.6400
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: 0.3121
    Cell Significance Index: 35.6300
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.2795
    Cell Significance Index: 7.4900
  • Cell Name: peg cell (CL4033014)
    Fold Change: 0.1591
    Cell Significance Index: 3.6800
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.1387
    Cell Significance Index: 23.6800
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.1280
    Cell Significance Index: 4.1000
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.0609
    Cell Significance Index: 0.6300
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 0.0531
    Cell Significance Index: 1.4000
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.0083
    Cell Significance Index: 5.7400
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0037
    Cell Significance Index: 6.8800
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: 0.0017
    Cell Significance Index: 1.2700
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: 0.0007
    Cell Significance Index: 0.5300
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0013
    Cell Significance Index: -0.8000
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0069
    Cell Significance Index: -5.2500
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.0087
    Cell Significance Index: -0.4400
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0106
    Cell Significance Index: -19.5000
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0127
    Cell Significance Index: -19.5200
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0135
    Cell Significance Index: -7.6400
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0144
    Cell Significance Index: -19.5500
  • Cell Name: epithelial cell of uterus (CL0002149)
    Fold Change: -0.0159
    Cell Significance Index: -0.2200
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -0.0180
    Cell Significance Index: -0.7400
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0200
    Cell Significance Index: -2.2900
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0205
    Cell Significance Index: -13.0100
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0237
    Cell Significance Index: -4.9900
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.0304
    Cell Significance Index: -3.5400
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: -0.0324
    Cell Significance Index: -6.4300
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0325
    Cell Significance Index: -14.7500
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: -0.0419
    Cell Significance Index: -15.0300
  • Cell Name: odontoblast (CL0000060)
    Fold Change: -0.0463
    Cell Significance Index: -5.9400
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0468
    Cell Significance Index: -13.4700
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.0506
    Cell Significance Index: -1.3000
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0579
    Cell Significance Index: -5.9100
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: -0.0734
    Cell Significance Index: -14.7200
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0757
    Cell Significance Index: -10.4000
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.0827
    Cell Significance Index: -2.9100
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0903
    Cell Significance Index: -13.1200
  • Cell Name: syncytiotrophoblast cell (CL0000525)
    Fold Change: -0.1048
    Cell Significance Index: -1.0000
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: -0.1092
    Cell Significance Index: -1.2400
  • Cell Name: keratinocyte (CL0000312)
    Fold Change: -0.1221
    Cell Significance Index: -3.0500
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.1242
    Cell Significance Index: -9.5300
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.1289
    Cell Significance Index: -13.4300
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.1310
    Cell Significance Index: -15.4500
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.1333
    Cell Significance Index: -10.5600
  • Cell Name: L4 intratelencephalic projecting glutamatergic neuron (CL4030063)
    Fold Change: -0.1423
    Cell Significance Index: -1.5600
  • Cell Name: basal epithelial cell of prostatic duct (CL0002236)
    Fold Change: -0.1510
    Cell Significance Index: -1.3400
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.1807
    Cell Significance Index: -11.0800
  • Cell Name: skeletal muscle fibroblast (CL0011027)
    Fold Change: -0.1830
    Cell Significance Index: -1.2400
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.1899
    Cell Significance Index: -6.9700
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.1969
    Cell Significance Index: -12.4100
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.1991
    Cell Significance Index: -10.3700
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.2054
    Cell Significance Index: -6.0500

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:** IRF6 is a transcription factor that belongs to the interferon regulatory factor family. It is characterized by its ability to bind to specific DNA sequences, thereby regulating the expression of target genes. IRF6 is primarily expressed in epithelial cells, stem cells, and immune cells, and its expression is often restricted to specific tissues and cell types. IRF6 is a transcriptional activator that regulates the expression of genes involved in immune responses, cell development, and tissue homeostasis. **Pathways and Functions:** IRF6 is involved in various signaling pathways, including: 1. **Interferon signaling pathway:** IRF6 is a key component of the interferon alpha/beta and gamma signaling pathways, which play a crucial role in the regulation of immune responses. 2. **Cell proliferation and differentiation:** IRF6 regulates the expression of genes involved in cell proliferation, differentiation, and survival in epithelial cells, stem cells, and immune cells. 3. **DNA binding and transcriptional regulation:** IRF6 binds to specific DNA sequences, thereby regulating the expression of target genes involved in immune responses, cell development, and tissue homeostasis. 4. **Cytokine signaling:** IRF6 is involved in the regulation of cytokine signaling pathways, which play a crucial role in the regulation of immune responses. **Functions:** IRF6 has several functions, including: 1. **Regulation of immune responses:** IRF6 plays a crucial role in the regulation of immune responses, particularly in the context of interferon alpha/beta and gamma signaling. 2. **Cell development and differentiation:** IRF6 regulates the expression of genes involved in cell development and differentiation in epithelial cells, stem cells, and immune cells. 3. **Tissue homeostasis:** IRF6 is involved in the regulation of tissue homeostasis, particularly in the context of epithelial cell proliferation and differentiation. 4. **Stem cell regulation:** IRF6 regulates the expression of genes involved in stem cell proliferation, differentiation, and survival. **Clinical Significance:** IRF6 has been implicated in various immune-related disorders, including: 1. **Epidermolysis bullosa simplex (EBS):** IRF6 mutations have been identified as a cause of EBS, a genetic disorder characterized by skin blistering and fragility. 2. **Craniosynostosis:** IRF6 mutations have been identified as a cause of craniosynostosis, a genetic disorder characterized by premature fusion of the skull bones. 3. **Immune system disorders:** IRF6 has been implicated in various immune system disorders, including autoimmune diseases and immunodeficiency disorders. In conclusion, IRF6 is a crucial transcription factor that plays a pivotal role in the regulation of immune responses, cell development, and tissue homeostasis. Its dysregulation has been implicated in various immune-related disorders, highlighting the importance of IRF6 in maintaining immune homeostasis and preventing disease.

Genular Protein ID: 1444056558

Symbol: IRF6_HUMAN

Name: Interferon regulatory factor 6

UniProtKB Accession Codes:

O14896 B4DLE2 D3DT90 F5GWX8 G0ZTL0

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 2 CDD 1 CTD 1 ChiTaRS 1 DNASU 1 DisGeNET 1 EMBL 7 Ensembl 2 ExpressionAtlas 1 GO 27 Gene3D 2 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 HGNC 1 HPA 1 InParanoid 1 IntAct 1 InterPro 7 KEGG 1 MANE-Select 1 MIM 7 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 6 OrthoDB 1 PANTHER 2 PRINTS 1 PRO 1 PROSITE 2 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 Pumba 1 RNAct 1 Reactome 2 RefSeq 2 SMART 2 SMR 1 STRING 1 SUPFAM 2 SignaLink 1 TopDownProteomics 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 14702039

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

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 16710414

Title: The DNA sequence and biological annotation of human chromosome 1.

PubMed ID: 16710414

DOI: 10.1038/nature04727

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: 16049006

Title: Mammary serine protease inhibitor (Maspin) binds directly to interferon regulatory factor 6: identification of a novel serpin partnership.

PubMed ID: 16049006

DOI: 10.1074/jbc.m503523200

PubMed ID: 18212048

Title: Interferon regulatory factor 6 promotes cell cycle arrest and is regulated by the proteasome in a cell cycle-dependent manner.

PubMed ID: 18212048

DOI: 10.1128/mcb.01866-07

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 12219090

Title: Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes.

PubMed ID: 12219090

DOI: 10.1038/ng985

PubMed ID: 12920575

Title: Novel mutations in the IRF6 gene for Van der Woude syndrome.

PubMed ID: 12920575

DOI: 10.1007/s00439-003-0989-2

PubMed ID: 14640121

Title: Gene symbol IRF6. Disease: Van der Woude syndrome and popliteal pterygium.

PubMed ID: 14640121

PubMed ID: 14618417

Title: Novel IRF6 mutations in Japanese patients with Van der Woude syndrome: two missense mutations (R45Q and P396S) and a 17-kb deletion.

PubMed ID: 14618417

DOI: 10.1007/s10038-003-0089-0

PubMed ID: 15300989

Title: Gene symbol: IRF6. Disease: Van der Woude syndrome.

PubMed ID: 15300989

PubMed ID: 15317890

Title: Interferon regulatory factor 6 (IRF6) gene variants and the risk of isolated cleft lip or palate.

PubMed ID: 15317890

DOI: 10.1056/nejmoa032909

PubMed ID: 17122170

Title: A novel missense mutation in Van der Woude syndrome: usefulness of fingernail DNA for genetic analysis.

PubMed ID: 17122170

DOI: 10.1177/154405910608501215

PubMed ID: 18478600

Title: A novel mutation in IRF6 resulting in VWS-PPS spectrum disorder with renal aplasia.

PubMed ID: 18478600

DOI: 10.1002/ajmg.a.32257

PubMed ID: 19036739

Title: Missense mutations that cause Van der Woude syndrome and popliteal pterygium syndrome affect the DNA-binding and transcriptional activation functions of IRF6.

PubMed ID: 19036739

DOI: 10.1093/hmg/ddn381

PubMed ID: 20803643

Title: Two missense mutations of the IRF6 gene in two Japanese families with popliteal pterygium syndrome.

PubMed ID: 20803643

DOI: 10.1002/ajmg.a.33338

PubMed ID: 21082654

Title: IRF6 mutations in mixed isolated familial clefting.

PubMed ID: 21082654

DOI: 10.1002/ajmg.a.33053

PubMed ID: 25691407

Title: Expanding the genetic and phenotypic spectrum of popliteal pterygium disorders.

PubMed ID: 25691407

DOI: 10.1002/ajmg.a.36896

Sequence Information:

  • Length: 467
  • Mass: 53130
  • Checksum: 7E28F5E0F5BA4053
  • Sequence:
    • MALHPRRVRL KPWLVAQVDS GLYPGLIWLH RDSKRFQIPW KHATRHSPQQ EEENTIFKAW 
AVETGKYQEG VDDPDPAKWK AQLRCALNKS REFNLMYDGT KEVPMNPVKI YQVCDIPQPQ 
GSIINPGSTG SAPWDEKDND VDEEDEEDEL DQSQHHVPIQ DTFPFLNING SPMAPASVGN 
CSVGNCSPEA VWPKTEPLEM EVPQAPIQPF YSSPELWISS LPMTDLDIKF QYRGKEYGQT 
MTVSNPQGCR LFYGDLGPMP DQEELFGPVS LEQVKFPGPE HITNEKQKLF TSKLLDVMDR 
GLILEVSGHA IYAIRLCQCK VYWSGPCAPS LVAPNLIERQ KKVKLFCLET FLSDLIAHQK 
GQIEKQPPFE IYLCFGEEWP DGKPLERKLI LVQVIPVVAR MIYEMFSGDF TRSFDSGSVR 
LQISTPDIKD NIVAQLKQLY RILQTQESWQ PMQPTPSMQL PPALPPQ

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.