IRF6 - interferon regulatory factor 6 Gene

Homo sapiens

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

Gene ID: 3664 | Gene type: protein coding

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

IRF6 Protein Structure

IRF

IRF-3

0
100
200
300
400
467 a.a.

Protein Preferred Names

Protein Names

interferon regulatory factor 6

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS06910	IRF6 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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