IRF6 (interferon regulatory factor 6)

2011-03-01 Affiliation

Identity

HGNC

IRF6

LOCATION

1q32.2

LOCUSID

3664

ALIAS

LPS,OFC6,PIT,PPS,PPS1,VWS,VWS1

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 3664
MIM: 607199
HGNC: 6121
Ensembl: ENSG00000117595

Variants:

dbSNP: 3664
ClinVar: 3664
TCGA: ENSG00000117595
COSMIC: IRF6

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000117595	ENST00000367021	O14896
ENSG00000117595	ENST00000367021	G0Z349
ENSG00000117595	ENST00000456314	B1AJU4
ENSG00000117595	ENST00000542854	O14896
ENSG00000117595	ENST00000643798	A0A2R8YHF3

Expression (GTEx)

100

150

200

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Immune System	REACTOME	R-HSA-168256
Cytokine Signaling in Immune system	REACTOME	R-HSA-1280215
Interferon Signaling	REACTOME	R-HSA-913531
Interferon alpha/beta signaling	REACTOME	R-HSA-909733
Interferon gamma signaling	REACTOME	R-HSA-877300

Protein levels (Protein atlas)

Not detected

Low

Medium

High

PharmGKB

Entity ID	Name	Type	Evidence	Association	PD	PMIDs
PA166119041	drug-induced liver injury	Disease	ClinicalAnnotation	associated	PD	30013178
PA444987	Multiple Sclerosis	Disease	ClinicalAnnotation	associated	PD	30013178
PA450037	interferon beta-1a	Chemical	ClinicalAnnotation	associated	PD	30013178
PA450039	interferon beta-1b	Chemical	ClinicalAnnotation	associated	PD	30013178

References

Pubmed ID	Year	Title	Citations
19372376	2009	Upstream open reading frames cause widespread reduction of protein expression and are polymorphic among humans.	299
12219090	2002	Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes.	232
20436469	2010	A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4.	200
15317890	2004	Interferon regulatory factor 6 (IRF6) gene variants and the risk of isolated cleft lip or palate.	186
18836445	2008	Disruption of an AP-2alpha binding site in an IRF6 enhancer is associated with cleft lip.	165
18836445	2008	Disruption of an AP-2alpha binding site in an IRF6 enhancer is associated with cleft lip.	165
17041603	2006	Irf6 is a key determinant of the keratinocyte proliferation-differentiation switch.	127
24360809	2014	Dominant mutations in GRHL3 cause Van der Woude Syndrome and disrupt oral periderm development.	61
20424325	2010	A regulatory feedback loop involving p63 and IRF6 links the pathogenesis of 2 genetically different human ectodermal dysplasias.	59
21909072	2011	IRF6 is a mediator of Notch pro-differentiation and tumour suppressive function in keratinocytes.	53

Citation

Dessen P

IRF6 (interferon regulatory factor 6)

Atlas Genet Cytogenet Oncol Haematol. 2011-03-01

Online version: http://atlasgeneticsoncology.org/gene/52118/irf6