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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. ... See more...
Aliases for IRF6 Gene
Aliases for IRF6 Gene
External Ids for IRF6 Gene
- HGNC: 6121
- NCBI Entrez Gene: 3664
- Ensembl: ENSG00000117595
- OMIM®: 607199
- UniProtKB/Swiss-Prot: O14896
Previous HGNC Symbols for IRF6 Gene
- VWS
- LPS
Previous GeneCards Identifiers for IRF6 Gene
- GC01M208600
- GC01M205667
- GC01M206600
- GC01M207040
- GC01M206349
- GC01M208025
- GC01M209959
- GC01M180637
Summaries for IRF6 Gene
-
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]
GeneCards Summary for IRF6 Gene
IRF6 (Interferon Regulatory Factor 6) is a Protein Coding gene. Diseases associated with IRF6 include Popliteal Pterygium Syndrome and Van Der Woude Syndrome 1. Among its related pathways are Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers and Immune response IFN alpha/beta signaling pathway. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity. An important paralog of this gene is IRF5.
UniProtKB/Swiss-Prot Summary for IRF6 Gene
-
Probable DNA-binding transcriptional activator. Key determinant of the keratinocyte proliferation-differentiation switch involved in appropriate epidermal development (By similarity). Plays a role in regulating mammary epithelial cell proliferation (By similarity). May regulate WDR65 transcription (By similarity).
Additional gene information for IRF6 Gene
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for IRF6 Gene
Genomics for IRF6 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for IRF6 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around IRF6 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for IRF6
- Top Transcription factor binding sites by QIAGEN in the IRF6 gene promoter:
-
- ATF
- GR
- GR-alpha
- GR-beta
- Meis-1
- p53
- POU2F1
- POU2F1a
- RelA
Genomic Locations for IRF6 Gene
Latest Assembly
- chr1:209,785,617-209,806,175
- (GRCh38/hg38)
- Size:
- 20,559 bases
- Orientation:
- Minus strand
Previous Assembly
- chr1:209,958,962-209,979,487
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 20,526 bases
- Orientation:
- Minus strand
Genomic View for IRF6 Gene
Genes around IRF6 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 1q32.2 by HGNC
- 1q32.2 by Entrez Gene
- 1q32.2 by Ensembl
IRF6 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for IRF6 Gene
Proteins for IRF6 Gene
-
Protein details for IRF6 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- O14896-IRF6_HUMAN
- Recommended name:
- Interferon regulatory factor 6
- Protein Accession:
- O14896
- B4DLE2
- D3DT90
- F5GWX8
- G0ZTL0
Protein attributes for IRF6 Gene
- Size:
- 467 amino acids
- Molecular mass:
- 53130 Da
- Quaternary structure:
-
- Interacts with SERPINB5.
Protein Expression for IRF6 Gene
Post-translational modifications for IRF6 Gene
- Phosphorylated. Phosphorylation status depends on the cell cycle and is a signal for ubiquitination and proteasome-mediated degradation.
- Modification sites at PhosphoSitePlus
- Modification sites at neXtProt
Other Protein References for IRF6 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibodies for research
- LifeSpan BioSciences IRF6 Antibody (LS-B3231) and IRF6 Antibody (LS-B6678)
- Novus Biologicals Antibodies for IRF6
-
Abcam antibodies for IRF6
- Invitrogen Antibodies for IRF6 (AFLGC-Irf6)
-
Santa Cruz Biotechnology (SCBT) Antibodies for IRF6
- Sino Biological Antibodies for IRF6
Protein products for research
- Search Origene for MassSpec and Protein Over-expression Lysates for IRF6
- Origene Custom Protein Services for IRF6
- antibodies-online: Show 9 available IRF6 Proteins ranked by validation data
- Compare Top IRF6 Proteins
-
Quality Products:
-
Abcam proteins for IRF6
Assay products for research
- antibodies-online: Search results for available IRF6 related products ranked by validation data
No data available for DME Specific Peptides for IRF6 Gene
Domains & Families for IRF6 Gene
Gene Families for IRF6 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Cancer-related genes
- Disease related genes
- Predicted intracellular proteins
- Transcription factors
Protein Domains for IRF6 Gene
- InterPro:
- Blocks:
-
- Interferon regulatory factor
Suggested Antigen Peptide Sequences for IRF6 Gene
- GenScript: Design optimal peptide antigens:
-
- Interferon regulatory factor 6 (IRF6_HUMAN)
Graphical View of Domain Structure for InterPro Entry
O14896- Family:
-
- Belongs to the IRF family.
Function for IRF6 Gene
Molecular function for IRF6 Gene
- UniProtKB/Swiss-Prot Function:
- Probable DNA-binding transcriptional activator. Key determinant of the keratinocyte proliferation-differentiation switch involved in appropriate epidermal development (By similarity). Plays a role in regulating mammary epithelial cell proliferation (By similarity). May regulate WDR65 transcription (By similarity).
- GENATLAS Biochemistry:
- interferon regulatory factor 6
Phenotypes From GWAS Catalog for IRF6 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000976 | transcription regulatory region sequence-specific DNA binding | IEA | -- |
| GO:0000978 | RNA polymerase II proximal promoter sequence-specific DNA binding | IBA | 21873635 |
| GO:0000981 | DNA-binding transcription factor activity, RNA polymerase II-specific | ISA | -- |
| GO:0001228 | DNA-binding transcription activator activity, RNA polymerase II-specific | IEA | -- |
| GO:0003677 | DNA binding | ISS | -- |
Phenotypes for IRF6 Gene
- MGI mutant phenotypes for IRF6:
- inferred from 6 alleles
- GenomeRNAi human phenotypes for IRF6:
-
- Mildly decreased CFP-tsO45G cell surface transport
- no effect
- Decreased vaccinia virus (VACV) infection
- Resistant to vaccinia virus (VACV-A4L) infection
- Negative genetic interaction between MUS81-/- and MUS81+/+
- Decreased shRNA abundance
- Increased shRNA abundance (Z-score > 2)
- Decreased viability with paclitaxel
- Decreased shRNA abundance (Z-score < -2)
Animal Models for IRF6 Gene
- MGI Knock Outs for IRF6:
-
- Irf6 Irf6<tm1.1Bcsl>
Animal Models for research
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for IRF6 - Starting at $85 >
- * IRF6 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for IRF6
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for IRF6
-
Santa Cruz Biotechnology (SCBT) CRISPR for IRF6
miRNA for IRF6 Gene
- miRTarBase miRNAs that target IRF6
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for IRF6
- Browse OriGene Inhibitory RNA Products For IRF6
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for IRF6
Clone products for research
- Applied Biological Materials (abm): Clones for IRF6 - Starting at $45 >
- * IRF6 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for IRF6
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for IRF6
Cell Lines for research
-
Horizon Cell Lines for IRF6
No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for IRF6 Gene
Localization for IRF6 Gene
Subcellular locations from UniProtKB/Swiss-Prot for IRF6 Gene
- Nucleus. Cytoplasm. Note=Translocates to nucleus in response to an activating signal. {ECO:0000250}.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| extracellular | 4 |
| cytosol | 4 |
| mitochondrion | 3 |
| plasma membrane | 2 |
| cytoskeleton | 2 |
| peroxisome | 1 |
| endoplasmic reticulum | 1 |
| endosome | 1 |
| lysosome | 1 |
| golgi apparatus | 1 |
- Cytosol (4)
- Nucleoplasm (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000785 | chromatin | ISA | -- |
| GO:0005634 | nucleus | IBA | 21873635 |
| GO:0005654 | nucleoplasm | IDA | -- |
| GO:0005737 | cytoplasm | IEA,IDA | 16049006 |
| GO:0005829 | cytosol | TAS | -- |
Pathways & Interactions for IRF6 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Interferon gamma signaling | ||
| 2 | NF-kappaB Signaling | ||
| 3 | Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers | ||
| 4 | Cytokine Signaling in Immune system | ||
| 5 | Innate Immune System |
.61
|
|
Pathways by source for IRF6 Gene
3 BioSystems pathways for IRF6 Gene
5 Reactome pathways for IRF6 Gene
1 R&D Systems pathway for IRF6 Gene
1 Cell Signaling Technology pathway for IRF6 Gene
Interacting Proteins for IRF6 Gene
Selected Interacting proteins:
O14896-IRF6_HUMAN
ENSP00000355988
for IRF6 Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for IRF6
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0002376 | immune system process | IBA | 21873635 |
| GO:0006355 | regulation of transcription, DNA-templated | IEA | -- |
| GO:0006357 | regulation of transcription by RNA polymerase II | IBA | 21873635 |
| GO:0007050 | cell cycle arrest | IDA | 18212048 |
| GO:0008285 | negative regulation of cell proliferation | IDA | 18212048 |
No data available for SIGNOR curated interactions for IRF6 Gene
Transcripts for IRF6 Gene
mRNA/cDNA for IRF6 Gene
- 2 REFSEQ mRNAs :
- 6 NCBI additional mRNA sequence :
- 5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000367021 4478 nts (view in UCSC)
- ENST00000456314 1027 nts (view in UCSC)
- ENST00000464698 596 nts (view in UCSC)
- ENST00000542854 4256 nts (view in UCSC)
- ENST00000643798 1697 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for IRF6 - Starting at $85 >
- * IRF6 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for IRF6
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for IRF6
-
Santa Cruz Biotechnology (SCBT) CRISPR for IRF6
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for IRF6
- Browse OriGene Inhibitory RNA Products For IRF6
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for IRF6
Clone products for research
- Applied Biological Materials (abm): Clones for IRF6 - Starting at $45 >
- * IRF6 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for IRF6
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for IRF6
Relevant External Links for IRF6 Gene
- GeneLoc Exon Structure for
- IRF6
Expression for IRF6 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Kidney (Urinary System)
- Ureteric Bud Cells Ureteric Bud
- Ureteric Bud Tip Cells Ureteric Bud
- Renal Collecting Duct System
- S-shaped Body
-
Epithelial Cells
- Dental Placode Cells Dental Placode
- Granular Keratinocytes Stratified Epidermis
- Spinous Keratinocytes Stratified Epidermis
- Primary Hair Placode Cells Hair Follicle
-
Hair (Integumentary System)
- Bulge Stem Cells Bulge
- Primary Hair Placode Cells Hair Follicle
-
Epidermis (Integumentary System)
- Granular Keratinocytes Stratified Epidermis
- Spinous Keratinocytes Stratified Epidermis
-
Tooth (Integumentary System)
- Dental Placode Cells Dental Placode
-
Limb (Muscoskeletal System)
- Apical Ectodermal Ridge Cells Limb Ectoderm
-
Ectoderm (Gastrulation Derivatives)
- Apical Ectodermal Ridge Cells Limb Ectoderm
-
Peripheral Nervous System (Nervous System)
- Schwann Precursor Cells Peripheral Nerve Domain
-
Brain (Nervous System)
- Adult Endothelial Cells Blood Brain Barrier
-
Endothelium (Cardiovascular System)
- Adult Endothelial Cells Blood Brain Barrier
- Gut Tube (Gastrointestinal Tract)
mRNA differential expression in normal tissues according to GTEx for IRF6 Gene
This gene is overexpressed in Skin - Not Sun Exposed (Suprapubic) (x7.7), Skin - Sun Exposed (Lower leg) (x7.4), and Esophagus - Mucosa (x6.3).
This gene is overexpressed in Adrenal (16.0), Salivary gland (12.5), and Tonsil (9.5).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for IRF6 Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for IRF6
SOURCE GeneReport for Unigene cluster for IRF6 Gene:
Hs.591415mRNA Expression by UniProt/SwissProt for IRF6 Gene:
O14896-IRF6_HUMAN
Tissue specificity:
Expressed in normal mammary epithelial cells. Expression is reduced or absent in breast carcinomas.
Evidence on tissue expression from TISSUES for IRF6 Gene
- Skin(3)
- Intestine(2.8)
- Nervous system(2.4)
- Muscle(2.2)
- Kidney(2.2)
- Heart(2.2)
- Liver(2.2)
- Blood(2.1)
- Lung(2.1)
Phenotype-based relationships between genes and organs from Gene ORGANizer for IRF6 Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- digestive
- integumentary
- nervous
- reproductive
- respiratory
- skeleton
Regions:
Head and neck:
- brain
- chin
- eye
- eyelid
- face
- head
- jaw
- lip
- mandible
- maxilla
- mouth
- neck
- pharynx
- skull
- tooth
Thorax:
- chest wall
- clavicle
- lung
- rib
- rib cage
- scapula
- sternum
Pelvis:
- pelvis
- testicle
- uterus
- vagina
- vulva
Limb:
- ankle
- arm
- digit
- elbow
- femur
- fibula
- finger
- foot
- forearm
- hand
- hip
- humerus
- knee
- lower limb
- nail
- radius
- shin
- shoulder
- thigh
- tibia
- toe
- ulna
- upper limb
- wrist
General:
- hair
- skin
- spinal column
- spinal cord
- vertebrae
Primer products for research
-
OriGene qPCR primer pairs for IRF6
-
OriGene qPCR primer pairs and template standards for IRF6
Gene Expression Assays for research
Orthologs for IRF6 Gene
This gene was present in the common ancestor of chordates.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | IRF6 29 30 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | IRF6 29 30 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | IRF6 29 30 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | IRF6 30 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Irf6 29 |
|
||
| Mouse (Mus musculus) |
Mammalia | Irf6 29 16 30 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | IRF6 30 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | IRF6 29 30 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | IRF6 30 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | irf6 29 |
|
||
| Str.6728 29 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | xIRF-6 29 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | irf6 29 30 |
|
OneToOne | |
| zgc63500 29 |
|
- Species where no ortholog for IRF6 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- Alpha proteobacteria (Wolbachia pipientis)
- Amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- Baker's yeast (Saccharomyces cerevisiae)
- Barley (Hordeum vulgare)
- Beta proteobacteria (Neisseria meningitidis)
- Bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- Common water flea (Daphnia pulex)
- Corn (Zea mays)
- E. coli (Escherichia coli)
- Filamentous fungi (Aspergillus nidulans)
- Firmicute Bacteria (Streptococcus pneumoniae)
- Fission Yeast (Schizosaccharomyces pombe)
- Fruit Fly (Drosophila melanogaster)
- Green Algae (Chlamydomonas reinhardtii)
- Honey Bee (Apis mellifera)
- K. Lactis Yeast (Kluyveromyces lactis)
- Loblloly Pine (Pinus taeda)
- Malaria Parasite (Plasmodium falciparum)
- Medicago Trunc (Medicago Truncatula)
- Moss (Physcomitrella patens)
- Orangutan (Pongo pygmaeus)
- Pig (Sus scrofa)
- Rainbow Trout (Oncorhynchus mykiss)
- Rice (Oryza sativa)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Vase (Ciona intestinalis)
- Sea Squirt (Ciona savignyi)
- Sea Urchin (Strongylocentrotus purpuratus)
- Sorghum (Sorghum bicolor)
- Soybean (Glycine max)
- Stem Rust Fungus (Puccinia graminis)
- Sugarcane (Saccharum officinarum)
- Thale Cress (Arabidopsis thaliana)
- Tomato (Lycopersicon esculentum)
- Toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- Wheat (Triticum aestivum)
- Worm (Caenorhabditis elegans)
Evolution for IRF6 Gene
- ENSEMBL:
- Gene Tree for IRF6 (if available)
- TreeFam:
- Gene Tree for IRF6 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for IRF6: view image
- Alliance of Genome Resources:
- Additional Orthologs for IRF6
Paralogs for IRF6 Gene
Variants for IRF6 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for IRF6 Gene
| SNP ID | Clinical significance and condition | Chr 01 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 1006033 | Uncertain Significance: van der Woude syndrome 1; Orofacial cleft 6, susceptibility to; Popliteal pterygium syndrome | 209,790,736(-) |
C/G NM_006147.4(IRF6):c.819G>C (p.Gln273His) |
MISSENSE | |
| 1012760 | Pathogenic: not provided | 209,789,716(-) |
TCC/T NM_006147.4(IRF6):c.1128_1129del (p.Glu377fs) |
FRAMESHIFT | |
| 1014137 | Uncertain Significance: van der Woude syndrome 1; Orofacial cleft 6, susceptibility to; Popliteal pterygium syndrome | 209,788,554(-) |
A/C NM_006147.4(IRF6):c.1270T>G (p.Ser424Ala) |
MISSENSE | |
| 1018738 | Uncertain Significance: van der Woude syndrome 1; Orofacial cleft 6, susceptibility to; Popliteal pterygium syndrome | 209,790,801(-) |
A/C NM_006147.4(IRF6):c.754T>G (p.Phe252Val) |
MISSENSE | |
| 1019576 | Uncertain Significance: van der Woude syndrome 1; Orofacial cleft 6, susceptibility to; Popliteal pterygium syndrome | 209,789,708(-) |
G/A NM_006147.4(IRF6):c.1138C>T (p.Pro380Ser) |
MISSENSE |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv144e212 | CNV | loss | 25503493 |
| nsv1006632 | CNV | gain | 25217958 |
| nsv4343 | CNV | deletion | 18451855 |
| nsv945273 | CNV | duplication | 23825009 |
Residual Variation Intolerance Score:
27.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
6.82;
79.21% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for IRF6 Gene
SNP Genotyping and Copy Number Assays for research
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for IRF6 Gene
Disorders for IRF6 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| popliteal pterygium syndrome |
|
|
| van der woude syndrome 1 |
|
|
| orofacial cleft 6 |
|
|
| cleft palate, isolated |
|
|
| tooth agenesis |
|
|
Search IRF6 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
IRF6_HUMAN- Van der Woude syndrome 1 (VWS1) [MIM:119300]: An autosomal dominant developmental disorder characterized by lower lip pits, cleft lip and/or cleft palate. {ECO:0000269 PubMed:12219090, ECO:0000269 PubMed:12920575, ECO:0000269 PubMed:14618417, ECO:0000269 PubMed:14640121, ECO:0000269 PubMed:15300989, ECO:0000269 PubMed:17122170, ECO:0000269 PubMed:18478600, ECO:0000269 PubMed:19036739}. Note=The disease is caused by variants affecting the gene represented in this entry.
- Popliteal pterygium syndrome (PPS) [MIM:119500]: An autosomal dominant disorder characterized by oro-facial, skin and genital anomalies. Expressivity is variable. Clinical features include cleft lip/palate, lower lip cysts, syngnathia, congenital ankyloblepharon filiforme in some cases, bifid scrotum, hypoplastic scrotum, hypoplastic uterus, talipes equinovarus. {ECO:0000269 PubMed:12219090, ECO:0000269 PubMed:14640121, ECO:0000269 PubMed:19036739, ECO:0000269 PubMed:20803643}. Note=The disease is caused by variants affecting the gene represented in this entry.
- Non-syndromic orofacial cleft 6 (OFC6) [MIM:608864]: A birth defect consisting of cleft lips with or without cleft palate. Cleft lips are associated with cleft palate in two-third of cases. A cleft lip can occur on one or both sides and range in severity from a simple notch in the upper lip to a complete opening in the lip extending into the floor of the nostril and involving the upper gum. {ECO:0000269 PubMed:15317890, ECO:0000269 PubMed:21082654}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.
Additional Disease Information for IRF6
- Human Genome Epidemiology Navigator
- (HuGE)
- Atlas
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
- Open Targets Platform
No data available for Genatlas for IRF6 Gene
Publications for IRF6 Gene
- Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes. (PMID: 12219090) Kondo S … Murray JC (Nature genetics 2002) 2 3 4 22 72
- Missense mutations that cause Van der Woude syndrome and popliteal pterygium syndrome affect the DNA-binding and transcriptional activation functions of IRF6. (PMID: 19036739) Little HJ … Shore P (Human molecular genetics 2009) 3 4 22 72
- Association between IRF6 and nonsyndromic cleft lip with or without cleft palate in four populations. (PMID: 17438386) Park JW … Beaty TH (Genetics in medicine : official journal of the American College of Medical Genetics 2007) 3 22 40 72
- Lack of association between IRF6 polymorphisms (rs2235371 and rs642961) and non-syndromic cleft lip and/or palate in a Brazilian population. (PMID: 19780991) Paranaíba LM … Coletta RD (Oral diseases 2010) 3 22 40
- IRF6 gene variants in Central European patients with non-syndromic cleft lip with or without cleft palate. (PMID: 20121942) Birnbaum S … Mangold E (European journal of oral sciences 2009) 3 22 40
ExternalLinks
Products for IRF6 Gene
- Custom Antibody ServicesOriGene Antibodies for IRF6
- Browse OriGene ELISA Kits
- Custom Assay Services
- Search Origene for MassSpec and Protein Over-expression Lysates for IRF6
- Origene Custom Protein Services for IRF6
- Origene shrna, sirna, and RNAi products in human, mouse, rat for IRF6
- Browse OriGene Inhibitory RNA Products For IRF6
- OriGene qPCR primer pairs for IRF6
- OriGene qPCR primer pairs and template standards for IRF6
- OriGene CRISPR knockouts for IRF6
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For IRF6
- Sino Biological Human cDNA Clone for IRF6
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- Sino Biological Antibodies for IRF6
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- High-throughput Antibody Production Service
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- Epitope Tag Antibodies & Reporter Protein Antibodies
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- Novus Biologicals Antibodies for IRF6
- Novus Biologicals proteins and lysates for IRF6
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- Abcam antibodies for IRF6
- Abcam proteins for IRF6
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- Invitrogen Antibodies for IRF6 (AFLGC-Irf6)
- VectorBuilder Custom and pre-made DNA vectors for IRF6 (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for IRF6 (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for IRF6 (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for IRF6 CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for IRF6
- antibodies-online: Show 27 available IRF6 Antibodies ranked by validation data
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- antibodies-online: Search results for available IRF6 related products ranked by validation data
- antibodies-online: Show 9 available IRF6 Proteins ranked by validation data
- Compare Top IRF6 Proteins
- Quality Products:
- Santa Cruz Biotechnology (SCBT) Antibodies for IRF6
- Search Santa Cruz Biotechnology (SCBT) for IRF6 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for IRF6
- Horizon Cell Lines for IRF6
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for IRF6
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for IRF6
- Search GeneCopoeia for miRNA 3'UTR Target clone products for IRF6
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for IRF6
Sources for IRF6 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM® (Updated: 05-Apr-2021)
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) ASD
- (27) SAGE
- (28) SOURCE
- (29) HomoloGene
- (30) PanEnsembl
- (31) euGenes
- (32) SGD
- (33) FlyBase
- (34) WormBase
- (35) Pseudogene
- (36) DGV
- (37) dbSNP
- (38) GenAtlas
- (39) HGMD
- (40) GAD
- (41) BGMUT
- (42) HuGE
- (43) Atlas
- (44) GenBank
- (45) HORDE
- (46) HUGE
- (47) IMGT
- (48) Leiden
- (49) miRBase
- (50) DME
- (51) OriGene
- (52) PubMed
- (53) R&D Systems
- (54) Tocris
- (55) Abcam
- (56) Novus Biologicals
- (57) ProSpec
- (58) Sino Biological
- (59) GenScript
- (60) Qiagen
- (61) OCA
- (62) Proteopedia
- (63) MOPED
- (64) neXtProt
- (65) Reactome
- (66) GeneGo (Thomson Reuters)
- (67) DISEASES
- (68) SIMAP
- (69) GenomeRNAi
- (70) LifeMap
- (71) miRTarBase
- (72) MalaCards
- (73) Invitrogen
- (74) BitterDB
- (75) ESI-BIO
- (76) RefSeq
- (77) BioSystems
- (78) MaxQB
- (79) IUPHAR
- (80) BioGPS
- (81) Illumina
- (82) COMPARTMENTS
- (83) HOMER
- (84) PaxDb
- (85) ApexBio
- (86) Addgene
- (87) antibodies-online
- (88) CYP
- (89) NONCODE
- (90) TreeFam
- (91) PathCards
- (92) GeneReviews
- (93) GeneTex
- (94) Taconic Biosciences
- (95) GTEx
- (96) ProteomicsDB
- (97) SCBT
- (98) DGIdb
- (99) ClinicalTrials
- (100) RVIS
- (101) SIGNOR
- (102) diseasecard
- (103) NIH Rare Diseases
- (104) Orphanet
- (105) UMLS
- (106) GTR
- (107) Disease Ontology
- (108) MedlinePlus Genetics
- (109) MeSH
- (110) MedlinePlus
- (111) CDC
- (112) NINDS
- (113) NCBI Bookshelf
- (114) ClinVar
- (115) Gene Damage Index
- (116) HPO
- (117) UDN
- (118) VISTA
- (119) FANTOM5
- (120) ENCODE
- (121) ProSci
- (122) Horizon
- (123) The Signaling Pathways Project (SPP)
- (124) IID
- (125) VectorBuilder
- (126) SNPedia
- (127) BRCA Exchange
- (128) CIViC
- (129) ProteoGenix
- (130) dbSUPER
- (131) TISSUES
- (132) Gene ORGANizer
- (133) abm
- (134) Human Protein Atlas
- (135) GWAS Catalog
- (136) Monarch Initiative
- (137) DataMed
- (138) HumanCyc
- (139) UCNEbase
- (140) EPDnew
- (141) Applied Biosystems
- (142) GlyConnect
- (143) Aminode
- (144) GeneCopoeia
- (145) GPS-Prot
- (146) RNAcentral
- (147) LncRNADisease
- (148) LOVD
- (149) miR2Disease
- (150) DiseaseEnhancer
- (151) Boster Bio
- (152) Biorbyt
- (153) Biocompare
- (154) Mastermind
- (155) CTD^2 Dashboard
- (156) CraniofacialAtlas
- (157) GeneImprint
- (158) Synthego
- (159) ENA
- (160) GtRNAdb
- (161) LncBase
- (162) LncBook
- (163) LNCipedia
- (164) Modomics
- (165) PDBe
- (166) Rfam
- (167) SILVA
- (168) snOPY
- (169) SRPDB
- (170) GENCODE
- (171) TarBase
- (172) Open Targets Platform
- (173) 5SRRNADB
- (174) snoDB
- (175) MirGeneDB
- (176) Alliance of Genome Resources