IRF6 - interferon regulatory factor 6 Gene

Also Known as LPS; PIT; PPS; VWS; OFC6; PPS1; VWS1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 3664

About IRF6

Cytogenetic location: 1q32.2 Genomic coordinates (GRCh38): 1:209,785,617-209,806,142 (from NCBI)

This gene has 6 transcripts (splice variants), 230 orthologues, 8 paralogues and is associated with 12 phenotypes. Broad expression in skin (RPKM 34.2), esophagus (RPKM 31.3) and 19 other tissues.

Summary

This gene encodes a member of the interferon regulatory transcription factor (IRF) family. Family members share a highly-conserved N-terminal helix-turn-helix DNA-binding domain and a less conserved C-terminal protein-binding domain. The encoded protein may be a transcriptional activator. Mutations in this gene can cause van der Woude syndrome and popliteal pterygium syndrome. Mutations in this gene are also associated with non-syndromic orofacial cleft type 6. Alternate splicing results in multiple transcript variants.[provided by RefSeq, May 2011]

IRF6 Products (2)

mRNA	Protein	Name
NM_001206696.2	NP_001193625.1	interferon regulatory factor 6 isoform 2
NM_006147.4	NP_006138.1	interferon regulatory factor 6 isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	16049006	GOA
enables sequence-specific DNA binding	IDA IDA: Inferred from direct assay	28473536	GOA
enables sequence-specific double-stranded DNA binding	IDA IDA: Inferred from direct assay	28473536	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in negative regulation of cell population proliferation	IDA IDA: Inferred from direct assay	18212048	GOA
involved in positive regulation of transcription by RNA polymerase II	IDA IDA: Inferred from direct assay	21807998	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in cytoplasm	IDA IDA: Inferred from direct assay	16049006	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

IRF6 Protein Structure

IRF

IRF-3

0
100
200
300
400
467 a.a.

Protein Preferred Names	Protein Names
interferon regulatory factor 6

IRF6 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	IRF6	O14896	IRF8	Homo sapiens	Q02556	Anti Tag CoIP	21903422

Cross: Cross-species interaction Intra: Intraspecies interaction

IRF6 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P82917	IRF6 Antibody (YA2662)	WB, IHC-P, ICC/IF	Human, Mouse, Rat

Related Diseases

Diseases	Alias
Popliteal Pterygium Syndrome	PPS Faciogenitopopliteal Syndrome Facio-Genito-Popliteal Syndrome Popliteal Web Syndrome Autosomal Dominant Popliteal Pterygium Syndrome Cleft Lip/Palate, Paramedian Mucous Cysts Of The Lower Lip, Popliteal Pterygium, Digital And Genital Anomalies Popliteal Pterygium Syndrome 1 Cleft Lip/Palate Paramedian Mucous Cysts Of The Lower Lip Popliteal Pterygium Digital And Genital Anomalies Popliteal Pterygium
Orofacial Cleft 6	Orofacial Cleft 6, Susceptibility To OFC6 Cleft Lip With Or Without Cleft Palate, Nonsyndromic, 6 Non-Syndromic Orofacial Cleft 6 Non-Syndromic Cleft Lip/Palate 6 Non-Syndromic Cleft Lip With Or Without Cleft Palate 6 Orofacial Cleft, Type 6
Van Der Woude Syndrome 1	Cleft Lip And/Or Palate With Mucous Cysts Of Lower Lip VWS1 Vdws Lip-Pit Syndrome Lps Pit Lip Pit Van Der Woude Syndrome
Van Der Woude Syndrome	Lip-Pit Syndrome Vws Cleft Lip And/Or Palate With Mucous Cysts Of Lower Lip Vdws Lps Lip Pit Syndrome Cleft Lip/Palate With Mucous Cysts Of Lower Lip Myopathy, Actin, Congenital, With Excess Of Thin Myofilaments
Cleft Palate, Isolated	Cleft Palate Isolated Cleft Palate CPI Cp Palatoschisis Cleft Palate Isolated Uranostaphyloschisis Congenital Fissure Of Palate Cleft Of Secondary Palate
Tooth Agenesis	Oligodontia Hypodontia Selective Tooth Agenesis Tooth Agenesis, Selective Familial Tooth Agenesis Anodontia Congenital Absence Of One Tooth
Isolated Cleft Lip
Cleft Lip And Alveolus
Cleft Lip/Palate	Cleft Lip And Palate Alveolar Cleft Lip And Palate Cleft Lip-Alveolus-Palate Syndrome Flp
Cleft Lip	Cheiloschisis Labium Leporinum Cleft Lip, Unilateral, Complete Complete Unilateral Cleft Lip Hare Lip Congenital Fissure Of Lip Isolated Cleft Lip Cleft Lip Without Cleft Palate Cleft Lip Without Cleft Palate, Unilateral Isolated Cleft Lip, Unilateral Cleft Lip Without Cleft Palate, Bilateral Isolated Cleft Lip, Bilateral
Syngnathia	Cleft Palate-Lateral Synechia Syndrome Cpls Syndrome Cleft Palate Lateral Synechia Syndrome
Orofacial Cleft	Cleft, Orofacial
Ankyloglossia With Or Without Tooth Anomalies	Ankyloglossia ANKG 'Tongue-Tie' Tongue-Tie Tongue Tie Aberrant Insertion Of Labial Frenulum Aberrant Insertion Of Frenum Of Tongue Short Frenulum Linguae Short Frenulum Of Tongue
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Hay-Wells Syndrome Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome Aec Syndrome AEC Ankyloblepharon-Ectodermal Defects-Cleft Lip And Palate Syndrome Seres-Santamaria Arimany Muniz Syndrome Cleft Palate, Ankyloblepharon, Alveolar Synechiae, And Ectodermal Defects Ankyloblepharon Ectodermal Defects Cleft Lip/Palate Ankyloblepharon-Ectodermal Defect-Cleft Lip/Palate Rapp-Hodgkin Syndrome
Branchiooculofacial Syndrome	Branchio-Oculo-Facial Syndrome BOFS Bof Syndrome Hemangiomatous Branchial Clefts-Lip Pseudocleft Syndrome Lip Pseudocleft-Hemangiomatous Branchial Cyst Syndrome Branchial Clefts With Characteristic Facies, Growth Retardation, Imperforate Nasolacrimal Duct, And Premature Aging Branchial Clefts With Characteristic Facies Growth Retardation Imperforate Nasolacrimal Duct And Premature Aging Bofs Syndrome Lip Pseudocleft-Hemagiomatous Branchial Cyst Syndrome
Fetal Encasement Syndrome	Cocoon Syndrome COCOS Fetal Diseases
Multiple Pterygium Syndrome, Escobar Variant	Multiple Pterygium Syndrome Pterygium Escobar Syndrome EVMPS Pterygium Syndrome Autosomal Recessive Multiple Pterygium Syndrome Pterygium Colli Syndrome Pterygium Universale Autosomal Recessive Non-Lethal Multiple Pterygium Syndrome Escobar Variant Multiple Pterygium Syndrome Multiple Pterygium Syndrome, Nonlethal Type Surfer'S Eye Multiple Pterygium Syndrome Escobar Type Multiple Pterygium Syndrome Nonlethal Type Familial Pterygium Syndrome Pterygium Colli Multiple Pterygium Syndrome, Non-Lethal Type Nonlethal Type Multiple Pterygium Syndrome Pterygium Syndrome, Multiple, Escobar Type Pterygium Of Eye Web Eye
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Orofacial Cleft 7 Zlotogora-Ogur Syndrome CLPED1 Ectodermal Dysplasia, Margarita Island Type Ed4 Cleft Lip-Palate-Ectodermal Dysplasia Syndrome Cleft Lip/Palate-Syndactyly-Pili Torti Syndrome Syndactyly-Ectodermal Dysplasia-Cleft/Lip Palate Ectodermal Dysplasia 4 Ectodermal Dysplasia Margarita Type Ectodermal Dysplasia, Type 4 Ectodermal Dysplasia, Cleft Lip And Palate, Mental Retardation, And Syndactyly Margarita Type Of Ectodermal Dysplasia Zlotogora-Zilberman-Tenenbaum Syndrome Ectd4 Ectodermal Dysplasia 4, Hair/Nail Type EDMI Ectodermal Dysplasia Type 4 Margarita Island Ectodermal Dysplasia Syndactyly-Ectodermal Dysplasia-Cleft Lip/Palate Non-Syndromic Orofacial Cleft 7 OFC7 Non-Syndromic Cleft Lip/Palate 7 Non-Syndromic Cleft Lip With Or Without Cleft Palate 7
Fraser Syndrome 1	Fraser Syndrome Cryptophthalmos With Other Malformations Cryptophthalmos Syndrome FRASRS1 Cryptophthalmos-Syndactyly Syndrome Fraser-Francois Syndrome Cyclopism Meyer-Schwickerath'S Syndrome Ulrich-Feichtiger Syndrome Cryptophthalmos Syndactyly Syndrome Fraser'S Syndrome Meyer-Schwickerath Syndrome Ullrich-Feichtiger Syndrome
Talipes Equinovarus	Congenital Equinovarus Congenital Talipes Equinovarus Equinovarus Congenital Varus Clubfoot
Treacher Collins Syndrome 1	Treacher Collins Syndrome Mandibulofacial Dysostosis Treacher Collins-Franceschetti Syndrome Tcof Tcs Mfd1 Franceschetti-Klein Syndrome TCS1 Franceschetti Syndrome Franceschetti-Zwahlen-Klein Syndrome Zygoauromandibular Dysplasia Treacher-Collins Syndrome Mandibulofacial Dysostosis Without Limb Anomalies Bilateral And Symmetric Oto-Mandibular Dysplasia
Hypothyroidism, Thyroidal Or Athyroidal, With Spiky Hair And Cleft Palate	Bamforth-Lazarus Syndrome Bamforth Syndrome Hypothyroidism, Athyroidal, With Spiky Hair And Cleft Palate Hypothyroidism Cleft Palate Hypothyroidism, Athyroidal, With Spiky Hair And Cleft Palate Athyroidal Hypothyroidism-Spiky Hair-Cleft Palate Syndrome Hypothyroidism-Cleft Palate Syndrome BLS Athyroidal Hypothyroidism With Spiky Hair And Cleft Palate
Cleft Soft Palate	Cleft Velum Cleft Velum Palatinum Soft Cleft Palate Soft Palate Perforation
Lymphoid Interstitial Pneumonia	Lymphocytic Interstitial Pneumonia Lip Disease Lip Diseases LIP Disease Of Lips
Physical Disorder	Physical Illness
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Eec Syndrome Rudiger Syndrome 1 Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip-Palate Syndrome 1 EEC1 Eec Syndrome 1 Eec Syndrome-1 Walker-Clodius Syndrome Ectrodactyly-Ectodermal Dysplasia-Cleft Lip/Palate Syndrome Eec Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip-Palate Syndrome Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome Ectrodactyly-Cleft Lip/Palate Syndrome Ectrodactyly-Ectodermal Dysplasia-Cleft Lip/Cleft Palate Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome Ectrodactyly, Ectodermal Dysplasia, Clefting Syndrome Ectrodactyly-Cleft Lip-Palate Syndrome Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome
Fissured Tongue	Furrowed Tongue Plicated Tongue Tongue, Fissured Congenital Fissure Of Tongue Congenital Plicated Tongue Fissure Of Tongue Fissure Of Tongue, Congenital Geographic Tongue And Fissured Tongue Lingua Plicata Scrotal Tongue
Acrofacial Dysostosis 1, Nager Type	Nager Syndrome Nager Acrofacial Dysostosis AFD1 Preaxial Acrofacial Dysostosis Mandibulofacial Dysostosis, Treacher Collins Type, With Limb Anomalies Afd, Nager Type Nager Acrofacial Dysostosis Syndrome Nafd Acrofacial Dysostosis, Nager Type Afd Preaxial Manibulofacial Dysostosis Split Hand Deformity-Mandibulofacial Dysostosis Preaxial Mandibulofacial Dysostosis Mandibulofacial Dysostosis With Preaxial Limb Anomalies Preaxial Acrodysostosis Afd Nager Type Mandibulofacial Dysostosis Treacher Collins Type With Limb Anomalies
Stickler Syndrome	Arthroophthalmopathy Hereditary Arthro-Ophthalmo-Dystrophy Hereditary Arthro-Ophthalmopathy Stickler Dysplasia Hereditary Progressive Arthroophthalmopathy Stickler Syndrome, Type 1
Glass Syndrome	Chromosome 2q32-Q33 Deletion Syndrome Satb2-Associated Syndrome 2q33.1 Microdeletion Syndrome Sas 2q32-Q33 Microdeletion Syndrome 2q32q33 Microdeletion Syndrome Monosomy 2q32 Monosomy 2q32-Q33 Monosomy 2q32q33 2q32 Deletion Syndrome Del(2)(Q32) Del(2)(Q32q33) GLASS 2q32q33 Microdeletion Syndromes Satb2 Syndrome Satb2-Associated Syndrome Due To A Chromosomal Rearrangement Del(2)(Q33.1) Monosomy 2q33.1 Satb2-Associated Syndrome Due To A Pathogenic Variant Satb2-Associated Syndrome Due To A Point Mutation Satb2 Associated Disorder
Kabuki Syndrome 1	Kabuki Syndrome Niikawa-Kuroki Syndrome Kabuki Make-Up Syndrome Kms KABUK1 Kabuki Make Up Syndrome Nks Kabuki Makeup Syndrome Kabuki Syndrome, Type 1
Focal Segmental Glomerulosclerosis	Familial Idiopathic Steroid-Resistant Nephrotic Syndrome Focal Glomerulosclerosis Fsgs Segmental Glomerulosclerosis Glomerulosclerosis, Focal Segmental Fgs Focal Glomerular Sclerosis Familial Idiopathic Nephrotic Syndrome Focal Sclerosis With Hyalinosis Glomerulosclerosis, Focal Glomerulosclerosis Focal Glomerulosclerosis, Segmental, Focal Focal Segmental Glomerulosclerosis, Not Otherwise Specified
Chromosome 2q35 Duplication Syndrome	Syndactyly Syndactyly Type 1 Sdty1 Zygodactyly Syndactyly, Type I Sd1 Syndactyly, Type 1, With Or Without Craniosynostosis Symphalangism Non-Syndromic Syndactyly Symphalangy Webbing Of Digits Syndactyly, Type 1
Cerebral Palsy	Infantile Cerebral Palsy Mixed Cerebral Palsy Palsy Cerebral Palsy, Cerebral Cerebral Palsy, Mixed

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS06910	IRF6 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS19906	Irf6 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS26407	Irf6 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	IRF6	VGNC	VGNC:30277
Mus musculus	IRF6	MGD	MGI:1859211
Felis catus	IRF6	VGNC	VGNC:67828
Canis familiaris	IRF6	VGNC	VGNC:42095
Rattus norvegicus	IRF6	RGD	RGD:1309645
Macaca mulatta	IRF6	VGNC	VGNC:73764