Aliases for IRF6 Gene
Aliases for IRF6 Gene
External Ids for IRF6 Gene
- HGNC: 6121
- Entrez Gene: 3664
- Ensembl: ENSG00000117595
- OMIM: 607199
- UniProtKB: 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 Hypothetical Craniofacial Development Pathway and Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers. 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 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
- Monarch Initiative
- Search for IRF6 at DataMed
- Search for IRF6 at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for IRF6 Gene
Genomics for IRF6 Gene
GeneHancer (GH) Regulatory Elements for IRF6 Gene
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 UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the IRF6 gene promoter:
-
- p53
- ATF
- GR-beta
- GR-alpha
- GR
- POU2F1
- POU2F1a
- Meis-1
- RelA
Regulatory Element Products
Genomic Locations for IRF6 Gene
Genomic Locations for IRF6 Gene
- chr1:209,785,623-209,806,175
- (GRCh38/hg38)
- Size:
- 20,553 bases
- Orientation:
- Minus strand
- chr1:209,958,968-209,979,520
- (GRCh37/hg19)
- Size:
- 20,553 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 Entrez Gene
- 1q32.2 by HGNC
- 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:
Antibody Products
- R&D Systems Antibodies for IRF6 (IRF6)
- Novus Biologicals Antibodies for IRF6
-
Abcam antibodies for IRF6
- Invitrogen Antibodies for IRF6 (AFLGC-IRF6)
- GeneTex IRF6 Antibody for IRF6
-
Santa Cruz Biotechnology (SCBT) Antibodies for IRF6
- Sino Biological Antibodies for IRF6
Protein Products
-
OriGene Purified Proteins for IRF6
- Search Origene for MassSpec and Protein Over-expression Lysates for IRF6
- Origene Custom Protein Services for IRF6
- Search GeneTex for Proteins for IRF6
-
Abcam proteins for IRF6
Assay Products
- 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
- Human Protein Atlas (HPA):
-
- Cancer-related genes
- Disease related genes
- Predicted intracellular proteins
- Transcription factors
Protein Domains for IRF6 Gene
Suggested Antigen Peptide Sequences for IRF6 Gene
- GenScript: Design optimal peptide antigens:
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:0000981 | RNA polymerase II transcription factor activity, sequence-specific DNA binding | NAS | 19274049 |
| GO:0001228 | transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific DNA binding | IC | -- |
| GO:0003677 | DNA binding | ISS | -- |
| GO:0003700 | DNA binding transcription factor activity | ISS | -- |
| GO:0005515 | protein binding | IPI | 16049006 |
Phenotypes for IRF6 Gene
- MGI mutant phenotypes for IRF6:
- inferred from 5 alleles
- GenomeRNAi human phenotypes for IRF6:
-
- Decreased shRNA abundance (Z-score < -2)
- Increased shRNA abundance (Z-score > 2)
- Negative genetic interaction between MUS81-/- and MUS81+/+
- Decreased shRNA abundance
- Decreased viability
- no effect
- Increased vaccinia virus (VACV) infection
- Resistant to vaccinia virus (VACV-A4L) infection
- Decreased viability with paclitaxel
- Mildly decreased CFP-tsO45G cell surface transport
Animal Models for IRF6 Gene
- MGI Knock Outs for IRF6:
-
- Irf6 Irf6<tm1.1Bcsl>
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for IRF6
-
CRISPR Products
-
OriGene CRISPR knockouts for IRF6
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for IRF6
- genomics-online: gRNA clones - Search results for 115 available IRF6 gene related products
- Overview of 115 available IRF6 gene related products
- Applied Biological Materials CRISPR for IRF6
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for IRF6
- GenScript: Design CRISPR guide RNA sequences for IRF6
miRNA for IRF6 Gene
- miRTarBase miRNAs that target IRF6
miRNA Products
Inhibitory RNA Products
- 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
- genomics-online: shRNA clones - Search results for 115 available IRF6 gene related products
- Overview of 115 available IRF6 gene related products
Clone Products
- Sino Biological Human cDNA Clone for IRF6
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for IRF6
- Applied Biological Materials Clones for IRF6
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
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 |
|---|---|
| extracellular | 5 |
| nucleus | 5 |
| cytosol | 5 |
| mitochondrion | 3 |
| plasma membrane | 2 |
| peroxisome | 2 |
| lysosome | 1 |
| endosome | 1 |
- Cytosol (4)
- Nucleus (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | IDA | -- |
| GO:0005737 | cytoplasm | IEA,IDA | 16049006 |
| GO:0005829 | cytosol | TAS | -- |
| GO:0030054 | cell junction | IDA | -- |
| GO:0070062 | extracellular exosome | HDA | 19056867 |
Pathways & Interactions for IRF6 Gene
Pathways by source for IRF6 Gene
1 Sino Biological pathway 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:
ENSP00000355988
O14896-IRF6_HUMAN
for IRF6 Gene via
STRING
UniProtKB
IID
GPS-Prot Interaction Network for IRF6
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006351 | transcription, DNA-templated | IEA | -- |
| GO:0006355 | regulation of transcription, DNA-templated | IEA | -- |
| GO:0006366 | transcription by RNA polymerase II | IEA | -- |
| 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 :
- (4) Additional mRNA sequences :
- (196) Selected AceView cDNA sequences:
- (5) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000367021 4306 bps (uc001hhq.3)
- ENST00000643798 1697 bps
- ENST00000456314 1027 bps (uc057pco.1)
- ENST00000464698 596 bps (uc057pcp.1)
- ENST00000542854 4256 bps (uc010psm.2)
Unigene Clusters for IRF6 Gene
CRISPR Products
-
OriGene CRISPR knockouts for IRF6
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for IRF6
- genomics-online: gRNA clones - Search results for 115 available IRF6 gene related products
- Overview of 115 available IRF6 gene related products
- Applied Biological Materials CRISPR for IRF6
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for IRF6
- GenScript: Design CRISPR guide RNA sequences for IRF6
miRNA Products
Inhibitory RNA Products
- 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
- genomics-online: shRNA clones - Search results for 115 available IRF6 gene related products
- Overview of 115 available IRF6 gene related products
Clone Products
- Sino Biological Human cDNA Clone for IRF6
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for IRF6
- Applied Biological Materials Clones for IRF6
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
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
NURSA nuclear receptor signaling pathways regulating expression of IRF6 Gene:
IRF6SOURCE 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
- Nervous system(2.9)
- Intestine(2.8)
- Skin(2.7)
- Blood(2.4)
- Heart(2.4)
- Liver(2.3)
- Muscle(2.3)
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
-
OriGene qPCR primer pairs for IRF6
-
OriGene qPCR primer pairs and template standards for IRF6
- genomics-online: primer clones - Search results for 115 available IRF6 gene related products
- Overview of 115 available IRF6 gene related products
Gene Expression Assay Products
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 34 33 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | IRF6 34 33 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | IRF6 34 33 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | IRF6 34 |
|
OneToOne | |
| rat (Rattus norvegicus) |
Mammalia | Irf6 33 |
|
||
| mouse (Mus musculus) |
Mammalia | Irf6 16 34 33 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | IRF6 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | IRF6 34 33 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | IRF6 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | irf6 33 |
|
||
| Str.6728 33 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | xIRF-6 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | irf6 34 33 |
|
OneToOne | |
| zgc63500 33 |
|
- Species where no ortholog for IRF6 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya 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 squirt (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
Paralogs for IRF6 Gene
Variants for IRF6 Gene
| SNP ID | Clin | Chr 01 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1044516 | benign, Popliteal pterygium syndrome, Cleft Lip +/- Cleft Palate, Autosomal Dominant, Van der Woude syndrome | 209,786,269(-) | G/T | 3_prime_UTR_variant | |
| rs1060499555 | pathogenic, Van der Woude syndrome | 209,801,301(-) | A/G | coding_sequence_variant, intron_variant, missense_variant | |
| rs112896538 | likely-benign, Popliteal pterygium syndrome, Cleft Lip +/- Cleft Palate, Autosomal Dominant, Van der Woude syndrome | 209,786,006(-) | C/T | 3_prime_UTR_variant | |
| rs114756064 | likely-benign, Van der Woude syndrome, Cleft Lip +/- Cleft Palate, Autosomal Dominant, Popliteal pterygium syndrome | 209,786,909(-) | G/A | 3_prime_UTR_variant | |
| rs121434224 | pathogenic, Van der Woude syndrome | 209,796,453(-) | C/A | 5_prime_UTR_variant, coding_sequence_variant, stop_gained |
| 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 Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for IRF6 Gene
Disorders for IRF6 Gene
(24) MalaCards diseases for IRF6 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| popliteal pterygium syndrome |
|
|
| van der woude syndrome 1 |
|
|
| orofacial cleft 6 |
|
|
| tooth agenesis |
|
|
| isolated cleft lip |
|
|
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 mutations 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 mutations 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 variations affecting the gene represented in this entry.
Additional Disease Information for IRF6
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 58
- 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 44 58
- 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 58
- Association among IRF6 polymorphism, environmental factors, and nonsyndromic orofacial clefts in western china. (PMID: 19388848) Jia ZL … Shi B (DNA and cell biology 2009) 3 22 44 58
- The association between interferon regulatory factor 6 (IRF6) and nonsyndromic cleft lip with or without cleft palate in a Honduran population. (PMID: 19536891) Diercks GR … Haddad J (The Laryngoscope 2009) 3 22 44 58
Products for IRF6 Gene
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- Gene Mutant Library, Variants up to 10^11
- Plasmid Preparation
- GenScript Custom Peptide Services for IRF6
- Sino Biological Human cDNA Clone for IRF6
- Browse Sino Biological Recombinant Proteins
- Browse Sino Biological Cell Lysates
- Sino Biological Antibodies for IRF6
- Browse Sino Biological Assays
- Browse Antibodies
- Browse cDNA Clones
- Browse ELISA Kits
- Browse CRO Services
- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
- Lentiviral ORF Clones
- Novus Biologicals Antibodies for IRF6
- Novus Biologicals proteins and lysates for IRF6
- Novus Biologicals
- Novus Biologicals Tissue Microarrays
- Browse Antibodies
- Browse Peptides and Proteins
- Browse Lysates
- Browse ELISA Kits
- Abcam antibodies for IRF6
- Abcam proteins for IRF6
- Find your target
- Browse Primary Antibodies
- Browse Conjugated Primary Antibodies
- Browse Secondary Antibodies
- Browse ELISA Kits
- Browse Matched Antibody Pairs
- Browse Proteins and Peptides
- Search Knockout (KO) Validated Antibodies
- Browse Monoclonal Antibodies
- Browse Recombinant Antibodies
- Invitrogen Antibodies for IRF6 (AFLGC-IRF6)
- Cyagen custom Knockout/knockin (KOKI) mouse models for IRF6
- antibodies-online: Search results for 98 available IRF6 Antibodies ranked by validation data
- Compare Top IRF6 Antibodies
- antibodies-online: Search results for available IRF6 related products ranked by validation data
- antibodies-online: Search results for 9 available IRF6 Proteins ranked by validation data
- Compare Top IRF6 Proteins
- Quality Products:
- GeneTex IRF6 Antibody for IRF6
- Search GeneTex for Proteins for IRF6
- 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
- genomics-online: cdna clones - Search results for 115 available IRF6 gene related products
- Overview of 115 available IRF6 gene related products
- orf clones - Search results for 115 available IRF6 gene related products
- Overview of 115 available IRF6 gene related products
- genomics-online: gRNA clones - Search results for 115 available IRF6 gene related products
- Overview of 115 available IRF6 gene related products
- genomics-online: primer clones - Search results for 115 available IRF6 gene related products
- Overview of 115 available IRF6 gene related products
- genomics-online: shRNA clones - Search results for 115 available IRF6 gene related products
- Overview of 115 available IRF6 gene related products
- 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
- GeneCopoeia 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) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
- (87) BioSystems
- (88) MaxQB
- (89) IUPHAR
- (90) BioGPS
- (91) Illumina
- (92) COMPARTMENTS
- (93) HOMER
- (94) PaxDb
- (95) ApexBio
- (96) Addgene
- (97) antibodies-online
- (98) CYP
- (99) NONCODE
- (100) SwitchGear Genomics
- (101) TreeFam
- (102) PathCards
- (103) GeneReviews
- (104) GeneTex
- (105) Taconic Biosciences
- (106) GTEx
- (107) ProteomicsDB
- (108) SCBT
- (109) DGIdb
- (110) ClinicalTrials
- (111) FDA Approved Drugs
- (112) RVIS
- (113) SIGNOR
- (114) diseasecard
- (115) NIH Rare Diseases
- (116) Orphanet
- (117) UMLS
- (118) GTR
- (119) Disease Ontology
- (120) Genetics Home Reference
- (121) MeSH
- (122) MedlinePlus
- (123) CDC
- (124) NINDS
- (125) NCBI Bookshelf
- (126) ClinVar
- (127) Gene Damage Index
- (128) ViGene Biosciences
- (129) HPO
- (130) UDN
- (131) VISTA
- (132) FANTOM5
- (133) ENCODE
- (134) ProSci
- (135) Horizon
- (136) NURSA
- (137) IID
- (138) Cyagen
- (139) VectorBuilder
- (140) SNPedia
- (141) BRCA Exchange
- (142) St John's Lab
- (143) CIViC
- (144) ProteoGenix
- (145) dbSUPER
- (146) TISSUES
- (147) Gene ORGANizer
- (148) abm
- (149) CrownBio
- (150) Human Protein Atlas
- (151) GWAS Catalog
- (152) Monarch Initiative
- (153) DataMed
- (154) HumanCyc
- (155) genomics-online
- (156) UCNEbase
- (157) EPDnew
- (158) Applied Biosystems
- (159) GlyConnect
- (160) Aminode
- (161) GeneCopoeia
- (162) GPS-Prot
- (163) RNACentral
- (164) LncRNADisease
- (165) LOVD
- (166) miR2Disease
- (167) DiseaseEnhancer
- (168) Boster Bio
- (169) Biorbyt