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IRF6

GENERAL INFORMATION

Gene name

 IRF6

Gene description

 Interferon regulatory factor 6

Protein class

 Cancer-related genes
Disease related genes
Predicted intracellular proteins
Transcription factors

Predicted localization

 Intracellular

Number of transcripts

 3
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category
HPA:Mixed
GTEx:Tissue enhanced (skin)
FANTOM5:Mixed

Protein evidence

 Evidence at protein level

Protein expression

 Nuclear and cytoplasmic expression in most tissues.

DATA RELIABILITY

Data reliability
description

 Antibody staining mainly consistent with RNA expression data.

Reliability score

 Approved based on 1 antibody.
HPA063121
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RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
Caudate
N/A
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Bronchus
N/A
N/A
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Vagina
N/A
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis

Skin

PROTEIN EXPRESSION OVERVIEW
Organ
Expression
Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Mixed
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Tissue enhanced (skin)
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Mixed

GENE INFORMATION

Gene name

 IRF6 (HGNC Symbol)

Synonyms

 LPS, OFC6, VWS, VWS1

Description

 Interferon regulatory factor 6 (HGNC Symbol)

Entrez gene 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]

Chromosome

 1

Cytoband

 q32.2

Chromosome location (bp)

 209785623 - 209806175

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000117595 (version 83.38)

Entrez gene

 3664

UniProt

 O14896 (UniProt - Evidence at protein level)

neXtProt

 NX_O14896

Antibodypedia

 IRF6 antibodies

PROTEIN BROWSER
IRF6-001
IRF6-002
IRF6-201

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
IRF6-001
ENSP00000355988
ENST00000367021
O14896 [Direct mapping]
Interferon regulatory factor 6
G0Z349 [Target identity:100%; Query identity:100%]
Interferon regulatory factor 6
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Predicted intracellular proteins
Transcription factors
   Helix-turn-helix domains
Cancer-related genes
   Mutated cancer genes
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000975 [regulatory region DNA binding]
GO:0003677 [DNA binding]
GO:0003700 [transcription factor activity, sequence-specific DNA binding]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005737 [cytoplasm]
GO:0005829 [cytosol]
GO:0006351 [transcription, DNA-templated]
GO:0006355 [regulation of transcription, DNA-templated]
GO:0007050 [cell cycle arrest]
GO:0008285 [negative regulation of cell proliferation]
GO:0019221 [cytokine-mediated signaling pathway]
GO:0030216 [keratinocyte differentiation]
GO:0043588 [skin development]
GO:0043616 [keratinocyte proliferation]
GO:0045893 [positive regulation of transcription, DNA-templated]
GO:0048468 [cell development]
GO:0060333 [interferon-gamma-mediated signaling pathway]
GO:0060337 [type I interferon signaling pathway]
GO:0060644 [mammary gland epithelial cell differentiation]
GO:0070062 [extracellular exosome]
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 467 aa
53.1 kDa 		No 0
IRF6-002
ENSP00000403855
ENST00000456314
B1AJU4 [Direct mapping]
Interferon regulatory factor 6
Show all
Predicted intracellular proteins
Cancer-related genes
   Mutated cancer genes
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000975 [regulatory region DNA binding]
GO:0003700 [transcription factor activity, sequence-specific DNA binding]
GO:0005515 [protein binding]
GO:0006355 [regulation of transcription, DNA-templated]
Show all
 276 aa
31.4 kDa 		No 0
IRF6-201
ENSP00000440532
ENST00000542854
O14896 [Direct mapping]
Interferon regulatory factor 6
Show all
Predicted intracellular proteins
Transcription factors
   Helix-turn-helix domains
Cancer-related genes
   Mutated cancer genes
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000975 [regulatory region DNA binding]
GO:0003677 [DNA binding]
GO:0003700 [transcription factor activity, sequence-specific DNA binding]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005737 [cytoplasm]
GO:0005829 [cytosol]
GO:0006351 [transcription, DNA-templated]
GO:0006355 [regulation of transcription, DNA-templated]
GO:0007050 [cell cycle arrest]
GO:0008285 [negative regulation of cell proliferation]
GO:0019221 [cytokine-mediated signaling pathway]
GO:0045893 [positive regulation of transcription, DNA-templated]
GO:0060333 [interferon-gamma-mediated signaling pathway]
GO:0060337 [type I interferon signaling pathway]
GO:0060644 [mammary gland epithelial cell differentiation]
GO:0070062 [extracellular exosome]
Show all
 372 aa
41.9 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.