Details for: IRF6

Gene ID: 3664

Symbol: IRF6

Ensembl ID: ENSG00000117595

Description: interferon regulatory factor 6

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: epithelial cell of urethra (CL1000296)
    Fold Change: 2.59
    Marker Score: 2039
  • Cell Name: stem cell of epidermis (CL1000428)
    Fold Change: 2.25
    Marker Score: 762
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 2.14
    Marker Score: 3151
  • Cell Name: luminal cell of prostate epithelium (CL0002340)
    Fold Change: 2.03
    Marker Score: 1183
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 1.97
    Marker Score: 4823
  • Cell Name: cortical thymic epithelial cell (CL0002364)
    Fold Change: 1.83
    Marker Score: 6790
  • Cell Name: medullary thymic epithelial cell (CL0002365)
    Fold Change: 1.79
    Marker Score: 2930
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 1.7
    Marker Score: 1788
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 1.63
    Marker Score: 6386
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 1.62
    Marker Score: 6263
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: 1.51
    Marker Score: 11789
  • Cell Name: keratinocyte (CL0000312)
    Fold Change: 1.51
    Marker Score: 1258
  • Cell Name: luminal epithelial cell of mammary gland (CL0002326)
    Fold Change: 1.46
    Marker Score: 2592
  • Cell Name: epithelial cell of esophagus (CL0002252)
    Fold Change: 1.44
    Marker Score: 12413
  • Cell Name: basal cell (CL0000646)
    Fold Change: 1.41
    Marker Score: 1818
  • Cell Name: basal cell of epithelium of trachea (CL1000348)
    Fold Change: 1.4
    Marker Score: 10434
  • Cell Name: granulocyte monocyte progenitor cell (CL0000557)
    Fold Change: 1.37
    Marker Score: 868
  • Cell Name: myoepithelial cell of mammary gland (CL0002324)
    Fold Change: 1.33
    Marker Score: 6525
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: 1.32
    Marker Score: 1461
  • Cell Name: epithelial cell of stratum germinativum of esophagus (CL1000447)
    Fold Change: 1.27
    Marker Score: 307
  • Cell Name: ciliated columnar cell of tracheobronchial tree (CL0002145)
    Fold Change: 1.26
    Marker Score: 10948
  • Cell Name: mammary gland epithelial cell (CL0002327)
    Fold Change: 1.22
    Marker Score: 432
  • Cell Name: colon epithelial cell (CL0011108)
    Fold Change: 1.16
    Marker Score: 3645
  • Cell Name: squamous epithelial cell (CL0000076)
    Fold Change: 1.1
    Marker Score: 752
  • Cell Name: enterocyte (CL0000584)
    Fold Change: 1.1
    Marker Score: 5258
  • Cell Name: type A enteroendocrine cell (CL0002067)
    Fold Change: 1.07
    Marker Score: 433
  • Cell Name: ciliated cell (CL0000064)
    Fold Change: 1.07
    Marker Score: 3688
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 1.05
    Marker Score: 1045
  • Cell Name: foveolar cell of stomach (CL0002179)
    Fold Change: 1.04
    Marker Score: 6666
  • Cell Name: intestine goblet cell (CL0019031)
    Fold Change: 1.02
    Marker Score: 978
  • Cell Name: multi-ciliated epithelial cell (CL0005012)
    Fold Change: 1.01
    Marker Score: 1923
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71816
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 48041
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.99
    Marker Score: 15548
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.99
    Marker Score: 508
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30408
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.98
    Marker Score: 461
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2412
  • Cell Name: stem cell (CL0000034)
    Fold Change: 0.94
    Marker Score: 2242
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.93
    Marker Score: 5333
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.93
    Marker Score: 230
  • Cell Name: P/D1 enteroendocrine cell (CL0002268)
    Fold Change: 0.92
    Marker Score: 342
  • Cell Name: mucous neck cell (CL0000651)
    Fold Change: 0.91
    Marker Score: 2074
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.91
    Marker Score: 2736
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.9
    Marker Score: 325
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5284
  • Cell Name: respiratory epithelial cell (CL0002368)
    Fold Change: 0.86
    Marker Score: 474
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.84
    Marker Score: 640
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.84
    Marker Score: 1907
  • Cell Name: peptic cell (CL0000155)
    Fold Change: 0.84
    Marker Score: 350
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.83
    Marker Score: 28858
  • Cell Name: secretory cell (CL0000151)
    Fold Change: 0.83
    Marker Score: 1507
  • Cell Name: glandular cell of esophagus (CL0002657)
    Fold Change: 0.81
    Marker Score: 258
  • Cell Name: kidney collecting duct cell (CL1001225)
    Fold Change: 0.81
    Marker Score: 159
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 0.81
    Marker Score: 1647
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.8
    Marker Score: 1307
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: 0.8
    Marker Score: 834
  • Cell Name: kidney collecting duct intercalated cell (CL1001432)
    Fold Change: 0.78
    Marker Score: 1285
  • Cell Name: nasal mucosa goblet cell (CL0002480)
    Fold Change: 0.77
    Marker Score: 513
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.76
    Marker Score: 396
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.76
    Marker Score: 305
  • Cell Name: club cell (CL0000158)
    Fold Change: 0.75
    Marker Score: 878
  • Cell Name: respiratory goblet cell (CL0002370)
    Fold Change: 0.75
    Marker Score: 217
  • Cell Name: epithelial cell (CL0000066)
    Fold Change: 0.74
    Marker Score: 1173
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.74
    Marker Score: 673
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.73
    Marker Score: 468
  • Cell Name: intestinal crypt stem cell (CL0002250)
    Fold Change: 0.73
    Marker Score: 275
  • Cell Name: duct epithelial cell (CL0000068)
    Fold Change: 0.71
    Marker Score: 330
  • Cell Name: lung ciliated cell (CL1000271)
    Fold Change: 0.71
    Marker Score: 335
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.69
    Marker Score: 178
  • Cell Name: basal epithelial cell of prostatic duct (CL0002236)
    Fold Change: 0.69
    Marker Score: 610
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.66
    Marker Score: 2781.5
  • Cell Name: type G enteroendocrine cell (CL0000508)
    Fold Change: 0.66
    Marker Score: 227
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 0.66
    Marker Score: 1543
  • Cell Name: thyroid follicular cell (CL0002258)
    Fold Change: 0.64
    Marker Score: 504
  • Cell Name: taste receptor cell (CL0000209)
    Fold Change: 0.64
    Marker Score: 552
  • Cell Name: germ cell (CL0000586)
    Fold Change: 0.63
    Marker Score: 1107
  • Cell Name: kidney distal convoluted tubule epithelial cell (CL1000849)
    Fold Change: 0.61
    Marker Score: 645
  • Cell Name: bronchial goblet cell (CL1000312)
    Fold Change: 0.6
    Marker Score: 296
  • Cell Name: lung secretory cell (CL1000272)
    Fold Change: 0.6
    Marker Score: 533.5
  • Cell Name: paneth cell (CL0000510)
    Fold Change: 0.59
    Marker Score: 411
  • Cell Name: eukaryotic cell (CL0000255)
    Fold Change: 0.57
    Marker Score: 295
  • Cell Name: kidney collecting duct principal cell (CL1001431)
    Fold Change: 0.56
    Marker Score: 1405
  • Cell Name: precursor cell (CL0011115)
    Fold Change: 0.56
    Marker Score: 135
  • Cell Name: kidney loop of Henle epithelial cell (CL1000909)
    Fold Change: 0.56
    Marker Score: 348.5
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.55
    Marker Score: 442
  • Cell Name: epithelial cell of prostate (CL0002231)
    Fold Change: 0.55
    Marker Score: 382
  • Cell Name: papillary tips cell (CL1000597)
    Fold Change: 0.55
    Marker Score: 111
  • Cell Name: enteroendocrine cell (CL0000164)
    Fold Change: 0.55
    Marker Score: 283
  • Cell Name: mucus secreting cell (CL0000319)
    Fold Change: 0.53
    Marker Score: 135
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.53
    Marker Score: 316
  • Cell Name: type I pneumocyte (CL0002062)
    Fold Change: 0.51
    Marker Score: 619
  • Cell Name: acinar cell (CL0000622)
    Fold Change: 0.51
    Marker Score: 359
  • Cell Name: pulmonary ionocyte (CL0017000)
    Fold Change: 0.5
    Marker Score: 308
  • Cell Name: large intestine goblet cell (CL1000320)
    Fold Change: 0.5
    Marker Score: 132
  • Cell Name: nephron tubule epithelial cell (CL1000494)
    Fold Change: 0.49
    Marker Score: 116
  • Cell Name: kidney loop of Henle thick ascending limb epithelial cell (CL1001106)
    Fold Change: 0.49
    Marker Score: 1317.5
  • Cell Name: epithelial cell of lung (CL0000082)
    Fold Change: 0.49
    Marker Score: 2570
  • Cell Name: PP cell (CL0000696)
    Fold Change: 0.48
    Marker Score: 107
  • Cell Name: radial glial cell (CL0000681)
    Fold Change: 0.47
    Marker Score: 173

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Other Information

**Key characteristics** * IRF6 is a member of the interferon regulatory factor family, which are transcription factors that regulate the expression of genes involved in immune responses. * It is a key regulator of epidermal stem cells, promoting their differentiation into keratinocytes. * In the skin, IRF6 is expressed in the basal layer of skin, where it promotes the proliferation and differentiation of epidermal stem cells into keratinocytes. * It is also expressed in the urothelium, where it regulates the differentiation of luminal cells into urothelial cells. * In the prostate, IRF6 is expressed in the basal cells of the prostate gland, where it promotes the proliferation and differentiation of prostate epithelial cells into secretory or ciliated cells. **Pathways and functions** * IRF6 is a key regulator of keratinocyte differentiation. It binds to the Rna polymerase II cis-regulatory region sequence of keratinocyte differentiation genes and promotes their expression. * It also binds to the DNA binding region of the epidermal growth factor receptor (EGFR) gene and inhibits its expression, thereby promoting keratinocyte differentiation. * In addition to its role in keratinocyte differentiation, IRF6 is also involved in the regulation of epithelial cell proliferation and survival. * It binds to DNA sequences in the promoters of epithelial cell genes and modulates their expression. * IRF6 also plays a role in the regulation of immune responses. It is expressed in epithelial cells of the skin, prostate, and urogenital tract and is involved in the regulation of immune cell proliferation and activation. **Clinical significance** IRF6 is a promising target for the treatment of skin disorders and cancers. Mutations in the IRF6 gene have been linked to several skin conditions, including psoriasis, acne, and skin cancer. Inhibition of IRF6 has been shown to be effective in promoting keratinocyte differentiation and inhibiting skin cancer growth.

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 EPD 1 Ensembl 2 ExpressionAtlas 1 GO 27 Gene3D 2 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 Genevisible 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 MaxQB 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 7 OrthoDB 1 PANTHER 2 PRINTS 1 PRO 1 PROSITE 2 PROSITE-ProRule 1 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 SAM 1 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. For the full schema, download it here.