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Aliases for IRX3 Gene

Aliases for IRX3 Gene

  • Iroquois Homeobox 3 2 3 5
  • Iroquois Homeobox Protein 3 3 4
  • Homeodomain Protein IRXB1 3 4
  • IRXB1 3 4
  • Iroquois-Class Homeodomain Protein IRX-1 3
  • IRX-1 3

External Ids for IRX3 Gene

Previous GeneCards Identifiers for IRX3 Gene

  • GC16M044731
  • GC16M054372
  • GC16M054055
  • GC16M054095
  • GC16M052874
  • GC16M040203

Summaries for IRX3 Gene

Entrez Gene Summary for IRX3 Gene

  • IRX3 is a member of the Iroquois homeobox gene family (see IRX1; MIM 606197) and plays a role in an early step of neural development (Bellefroid et al., 1998 [PubMed 9427753]). Members of this family appear to play multiple roles during pattern formation of vertebrate embryos (Lewis et al., 1999 [PubMed 10370142]).[supplied by OMIM, Aug 2009]

GeneCards Summary for IRX3 Gene

IRX3 (Iroquois Homeobox 3) is a Protein Coding gene. Diseases associated with IRX3 include cycloplegia and familial atrial fibrillation. GO annotations related to this gene include sequence-specific DNA binding. An important paralog of this gene is IRX2.

UniProtKB/Swiss-Prot for IRX3 Gene

  • Transcription factor. Involved in SHH-dependent neural patterning. Together with NKX2-2 and NKX6-1 acts to restrict the generation of motor neurons to the appropriate region of the neural tube. Belongs to the class I proteins of neuronal progenitor factors, which are repressed by SHH signals. Involved in the transcriptional repression of MNX1 in non-motor neuron cells (By similarity).

Gene Wiki entry for IRX3 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for IRX3 Gene

Genomics for IRX3 Gene

Regulatory Elements for IRX3 Gene

Enhancers for IRX3 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around IRX3 on UCSC Golden Path with GeneCards custom track

Promoters for IRX3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around IRX3 on UCSC Golden Path with GeneCards custom track

Genomic Location for IRX3 Gene

Chromosome:
16
Start:
54,283,300 bp from pter
End:
54,286,856 bp from pter
Size:
3,557 bases
Orientation:
Minus strand

Genomic View for IRX3 Gene

Genes around IRX3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
IRX3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for IRX3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for IRX3 Gene

Proteins for IRX3 Gene

  • Protein details for IRX3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P78415-IRX3_HUMAN
    Recommended name:
    Iroquois-class homeodomain protein IRX-3
    Protein Accession:
    P78415
    Secondary Accessions:
    • Q7Z4A4
    • Q7Z4A5
    • Q8IVC6

    Protein attributes for IRX3 Gene

    Size:
    501 amino acids
    Molecular mass:
    52119 Da
    Quaternary structure:
    No Data Available

neXtProt entry for IRX3 Gene

Proteomics data for IRX3 Gene at MOPED

Post-translational modifications for IRX3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for IRX3 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for IRX3 Gene

Domains & Families for IRX3 Gene

Gene Families for IRX3 Gene

Suggested Antigen Peptide Sequences for IRX3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P78415

UniProtKB/Swiss-Prot:

IRX3_HUMAN :
  • Contains 1 homeobox DNA-binding domain.
  • Belongs to the TALE/IRO homeobox family.
Domain:
  • Contains 1 homeobox DNA-binding domain.
Family:
  • Belongs to the TALE/IRO homeobox family.
genes like me logo Genes that share domains with IRX3: view

Function for IRX3 Gene

Molecular function for IRX3 Gene

UniProtKB/Swiss-Prot Function:
Transcription factor. Involved in SHH-dependent neural patterning. Together with NKX2-2 and NKX6-1 acts to restrict the generation of motor neurons to the appropriate region of the neural tube. Belongs to the class I proteins of neuronal progenitor factors, which are repressed by SHH signals. Involved in the transcriptional repression of MNX1 in non-motor neuron cells (By similarity).
genes like me logo Genes that share phenotypes with IRX3: view

Animal Models for IRX3 Gene

MGI Knock Outs for IRX3:

Animal Model Products

miRNA for IRX3 Gene

miRTarBase miRNAs that target IRX3

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for IRX3 Gene

Localization for IRX3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for IRX3 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for IRX3 Gene COMPARTMENTS Subcellular localization image for IRX3 gene
Compartment Confidence
nucleus 5

No data available for Gene Ontology (GO) - Cellular Components for IRX3 Gene

Pathways & Interactions for IRX3 Gene

SuperPathways for IRX3 Gene

No Data Available

Interacting Proteins for IRX3 Gene

Gene Ontology (GO) - Biological Process for IRX3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001656 metanephros development IEA --
GO:0006351 transcription, DNA-templated IEA --
GO:0007498 mesoderm development IEA --
GO:0045665 negative regulation of neuron differentiation IEA --
GO:0045666 positive regulation of neuron differentiation IEA --
genes like me logo Genes that share ontologies with IRX3: view

No data available for Pathways by source and SIGNOR curated interactions for IRX3 Gene

Drugs & Compounds for IRX3 Gene

No Compound Related Data Available

Transcripts for IRX3 Gene

mRNA/cDNA for IRX3 Gene

Unigene Clusters for IRX3 Gene

Iroquois homeobox 3:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for IRX3 Gene

No ASD Table

Relevant External Links for IRX3 Gene

GeneLoc Exon Structure for
IRX3
ECgene alternative splicing isoforms for
IRX3

Expression for IRX3 Gene

mRNA expression in normal human tissues for IRX3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for IRX3 Gene

This gene is overexpressed in Skin - Not Sun Exposed (Suprapubic) (x7.8), Skin - Sun Exposed (Lower leg) (x5.6), Heart - Left Ventricle (x4.1), and Minor Salivary Gland (x4.1).

SOURCE GeneReport for Unigene cluster for IRX3 Gene Hs.499205

genes like me logo Genes that share expression patterns with IRX3: view

Primer Products

No data available for Protein differential expression in normal tissues , Protein expression , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners for IRX3 Gene

Orthologs for IRX3 Gene

This gene was present in the common ancestor of animals.

Orthologs for IRX3 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia IRX3 35
  • 88.44 (n)
  • 90.78 (a)
IRX3 36
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia IRX3 35
  • 89.75 (n)
  • 92.81 (a)
IRX3 36
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Irx3 35
  • 85.96 (n)
  • 91.02 (a)
Irx3 16
Irx3 36
  • 82 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia IRX3 35
  • 99.4 (n)
  • 99.19 (a)
IRX3 36
  • 99 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia IRX3 36
  • 84 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.2093 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.4522 35
zebrafish
(Danio rerio)
Actinopterygii iro3 35
irx3a 36
  • 58 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta ara 37
  • 43 (a)
caup 37
  • 47 (a)
mirr 37
  • 60 (a)
Species with no ortholog for IRX3:
  • 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)
  • chicken (Gallus gallus)
  • 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)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • 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 IRX3 Gene

ENSEMBL:
Gene Tree for IRX3 (if available)
TreeFam:
Gene Tree for IRX3 (if available)

Paralogs for IRX3 Gene

Paralogs for IRX3 Gene

(2) SIMAP similar genes for IRX3 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with IRX3: view

Variants for IRX3 Gene

Sequence variations from dbSNP and Humsavar for IRX3 Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type
rs1126960 - 54,284,260(-) TTCCA(A/C/G/T)CCCGT reference, missense
rs1450355 - 54,284,616(-) CCGCC(C/T)GCACC reference, missense
rs61744547 -- 54,283,716(+) ACCAG(A/G)GCGGC reference, synonymous-codon, utr-variant-3-prime
rs62032858 -- 54,283,002(+) TTGCT(C/T)CCGTA downstream-variant-500B
rs62032859 -- 54,283,008(+) CCGTA(C/G)ACAAG downstream-variant-500B

Structural Variations from Database of Genomic Variants (DGV) for IRX3 Gene

Variant ID Type Subtype PubMed ID
nsv833235 CNV Gain 17160897
nsv833236 CNV Loss 17160897
nsv827655 CNV Gain 20364138
esv2664461 CNV Deletion 23128226

Variation tolerance for IRX3 Gene

Residual Variation Intolerance Score: 53.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.99; 79.98% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for IRX3 Gene

HapMap Linkage Disequilibrium report
IRX3
Human Gene Mutation Database (HGMD)
IRX3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for IRX3 Gene

Disorders for IRX3 Gene

MalaCards: The human disease database

(2) MalaCards diseases for IRX3 Gene - From: DISEASES

Disorder Aliases PubMed IDs
cycloplegia
  • ciliary muscle paresis
familial atrial fibrillation
  • atrial fibrillation, familial, 1
- elite association - COSMIC cancer census association via MalaCards
Search IRX3 in MalaCards View complete list of genes associated with diseases

Relevant External Links for IRX3

Genetic Association Database (GAD)
IRX3
Human Genome Epidemiology (HuGE) Navigator
IRX3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
IRX3
genes like me logo Genes that share disorders with IRX3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for IRX3 Gene

Publications for IRX3 Gene

  1. Genome-wide association scan for survival on dialysis in African-Americans with type 2 diabetes. (PMID: 21546767) Murea M. … Freedman B.I. (Am. J. Nephrol. 2011) 3 48 67
  2. The proangiogenic effect of iroquois homeobox transcription factor Irx3 in human microvascular endothelial cells. (PMID: 25512384) Scarlett K. … Anderson L.M. (J. Biol. Chem. 2015) 3
  3. Obesity-associated variants within FTO form long-range functional connections with IRX3. (PMID: 24646999) Smemo S. … NA^brega M.A. (Nature 2014) 3
  4. Long-range gene regulation links genomic type 2 diabetes and obesity risk regions to HHEX, SOX4, and IRX3. (PMID: 20080751) Ragvin A. … Becker T.S. (Proc. Natl. Acad. Sci. U.S.A. 2010) 3
  5. Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling. (PMID: 19240061) Trynka G. … Wijmenga C. (Gut 2009) 3

Products for IRX3 Gene

Sources for IRX3 Gene

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