Aliases for IRX4 Gene

Aliases for IRX4 Gene

  • Iroquois Homeobox 4 2 3 5
  • Iroquois Homeobox Protein 4 2 3 4
  • Iroquois-Class Homeodomain Protein IRX-4 3 4
  • Homeodomain Protein IRXA3 3 4
  • IRXA3 3 4
  • IRX4 5

External Ids for IRX4 Gene

Previous GeneCards Identifiers for IRX4 Gene

  • GC05M002018
  • GC05M001910
  • GC05M001930

Summaries for IRX4 Gene

GeneCards Summary for IRX4 Gene

IRX4 (Iroquois Homeobox 4) is a Protein Coding gene. Diseases associated with IRX4 include Tetralogy Of Fallot and Holt-Oram Syndrome. Among its related pathways are Heart Development and Cardiac Progenitor Differentiation. Gene Ontology (GO) annotations related to this gene include sequence-specific DNA binding. An important paralog of this gene is IRX6.

UniProtKB/Swiss-Prot Summary for IRX4 Gene

  • Likely to be an important mediator of ventricular differentiation during cardiac development.

Gene Wiki entry for IRX4 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for IRX4 Gene

Genomics for IRX4 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for IRX4 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 IRX4 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for IRX4

Top Transcription factor binding sites by QIAGEN in the IRX4 gene promoter:
  • AP-2alpha
  • ATF-2
  • c-Jun
  • CUTL1
  • HEN1
  • LCR-F1
  • p53
  • Pax-4a
  • S8

Genomic Locations for IRX4 Gene

Genomic Locations for IRX4 Gene
9,824 bases
Minus strand
9,810 bases
Minus strand

Genomic View for IRX4 Gene

Genes around IRX4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
IRX4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for IRX4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for IRX4 Gene

Proteins for IRX4 Gene

  • Protein details for IRX4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Iroquois-class homeodomain protein IRX-4
    Protein Accession:
    Secondary Accessions:
    • B2RMW5
    • D3DTC5
    • H1AFL0
    • H1AFL1
    • Q2NL64
    • Q9UHR2

    Protein attributes for IRX4 Gene

    519 amino acids
    Molecular mass:
    54445 Da
    Quaternary structure:
    • Interacts with the vitamin D receptor VDR but doesn't affect its transactivation activity.

    Alternative splice isoforms for IRX4 Gene


neXtProt entry for IRX4 Gene

Post-translational modifications for IRX4 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for IRX4 Gene

Domains & Families for IRX4 Gene

Gene Families for IRX4 Gene

Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for IRX4 Gene

  • Iroquois-class homeodomain protein

Suggested Antigen Peptide Sequences for IRX4 Gene

GenScript: Design optimal peptide antigens:
  • Iroquois homeobox protein 4 (IRX4_HUMAN)

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the TALE/IRO homeobox family.
  • Belongs to the TALE/IRO homeobox family.
genes like me logo Genes that share domains with IRX4: view

Function for IRX4 Gene

Molecular function for IRX4 Gene

UniProtKB/Swiss-Prot Function:
Likely to be an important mediator of ventricular differentiation during cardiac development.

Phenotypes From GWAS Catalog for IRX4 Gene

Gene Ontology (GO) - Molecular Function for IRX4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific ISM 19274049
GO:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specific IBA 21873635
GO:0003677 DNA binding IEA --
GO:0043565 sequence-specific DNA binding IEA,IBA 21873635
genes like me logo Genes that share ontologies with IRX4: view
genes like me logo Genes that share phenotypes with IRX4: view

Animal Models for IRX4 Gene

MGI Knock Outs for IRX4:

Animal Model Products

CRISPR Products

miRNA for IRX4 Gene

miRTarBase miRNAs that target IRX4

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for IRX4

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for IRX4 Gene

Localization for IRX4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for IRX4 Gene

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for IRX4 gene
Compartment Confidence
nucleus 4
cytoskeleton 2
cytosol 2
plasma membrane 1
extracellular 1
mitochondrion 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (1)
  • Vesicles (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for IRX4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000790 nuclear chromatin ISA --
GO:0005634 nucleus IEA,IBA 21873635
genes like me logo Genes that share ontologies with IRX4: view

Pathways & Interactions for IRX4 Gene

PathCards logo

SuperPathways for IRX4 Gene

genes like me logo Genes that share pathways with IRX4: view

Pathways by source for IRX4 Gene

2 BioSystems pathways for IRX4 Gene

Gene Ontology (GO) - Biological Process for IRX4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II IBA 21873635
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006357 regulation of transcription by RNA polymerase II IEA,IBA 21873635
GO:0007507 heart development TAS,IEA --
GO:0030182 neuron differentiation IBA 21873635
genes like me logo Genes that share ontologies with IRX4: view

No data available for SIGNOR curated interactions for IRX4 Gene

Drugs & Compounds for IRX4 Gene

No Compound Related Data Available

Transcripts for IRX4 Gene

mRNA/cDNA for IRX4 Gene

11 NCBI additional mRNA sequence :
8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for IRX4

Alternative Splicing Database (ASD) splice patterns (SP) for IRX4 Gene

No ASD Table

Relevant External Links for IRX4 Gene

GeneLoc Exon Structure for

Expression for IRX4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for IRX4 Gene

mRNA differential expression in normal tissues according to GTEx for IRX4 Gene

This gene is overexpressed in Skin - Not Sun Exposed (Suprapubic) (x10.5), Esophagus - Mucosa (x8.3), Skin - Sun Exposed (Lower leg) (x8.0), Heart - Left Ventricle (x6.3), Vagina (x5.1), Minor Salivary Gland (x4.9), and Prostate (x4.6).

Protein differential expression in normal tissues from HIPED for IRX4 Gene

This gene is overexpressed in Heart (45.5) and Peripheral blood mononuclear cells (23.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for IRX4 Gene

Protein tissue co-expression partners for IRX4 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for IRX4

SOURCE GeneReport for Unigene cluster for IRX4 Gene:


mRNA Expression by UniProt/SwissProt for IRX4 Gene:

Tissue specificity: Predominantly expressed in cardiac ventricles.

Evidence on tissue expression from TISSUES for IRX4 Gene

  • Heart(2.4)
  • Muscle(2.1)
genes like me logo Genes that share expression patterns with IRX4: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for IRX4 Gene

Orthologs for IRX4 Gene

This gene was present in the common ancestor of animals.

Orthologs for IRX4 Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia IRX4 30 31
  • 87.66 (n)
(Canis familiaris)
Mammalia IRX4 31
  • 82 (a)
(Mus musculus)
Mammalia Irx4 30 17 31
  • 80.56 (n)
(Rattus norvegicus)
Mammalia Irx4 30
  • 79.71 (n)
(Pan troglodytes)
Mammalia IRX4 31
  • 78 (a)
(Monodelphis domestica)
Mammalia IRX4 31
  • 70 (a)
(Gallus gallus)
Aves IRX4 30 31
  • 75.78 (n)
(Anolis carolinensis)
Reptilia IRX4 31
  • 69 (a)
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia irx4 30
  • 64.8 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.12086 30
(Danio rerio)
Actinopterygii irx4a 30 31
  • 70.1 (n)
irx4b 31
  • 46 (a)
Dr.25775 30
Fruit Fly
(Drosophila melanogaster)
Insecta mirr 32
  • 48 (a)
caup 31 32
  • 22 (a)
ara 31 32
  • 22 (a)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 21 (a)
-- 31
  • 10 (a)
Species where no ortholog for IRX4 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)
  • 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)
  • Platypus (Ornithorhynchus anatinus)
  • 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 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 IRX4 Gene

Gene Tree for IRX4 (if available)
Gene Tree for IRX4 (if available)
Evolutionary constrained regions (ECRs) for IRX4: view image

Paralogs for IRX4 Gene

Paralogs for IRX4 Gene

(3) SIMAP similar genes for IRX4 Gene using alignment to 5 proteins:

  • D6RC00_HUMAN
genes like me logo Genes that share paralogs with IRX4: view

Variants for IRX4 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for IRX4 Gene

SNP ID Clinical significance and condition Chr 05 pos Variation AA Info Type
734123 Benign: not provided 1,878,385(-) C/A MISSENSE_VARIANT
738956 Likely Benign: not provided 1,879,494(-) C/T INTRON_VARIANT
776036 Benign: not provided 1,878,407(-) T/C SYNONYMOUS_VARIANT
rs1175075312 Uncertain Significance: Tetralogy of Fallot 1,878,357(-) G/A MISSENSE_VARIANT
rs753301629 Uncertain Significance: not provided 1,882,646(-) A/G INITIATIOR_CODON_VARIANT,MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for IRX4 Gene

Structural Variations from Database of Genomic Variants (DGV) for IRX4 Gene

Variant ID Type Subtype PubMed ID
dgv9542n54 CNV loss 21841781
esv25789 CNV loss 19812545
nsv1073845 CNV deletion 25765185
nsv1074801 CNV deletion 25765185
nsv822961 CNV loss 20364138
nsv822962 CNV gain 20364138
nsv822963 CNV gain 20364138
nsv950633 CNV deletion 24416366

Variation tolerance for IRX4 Gene

Gene Damage Index Score: 5.59; 72.37% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for IRX4 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for IRX4 Gene

Disorders for IRX4 Gene

MalaCards: The human disease database

(4) MalaCards diseases for IRX4 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
tetralogy of fallot
  • tof
holt-oram syndrome
  • hos
hypoplastic left heart syndrome
  • hlhs
familial atrial fibrillation
  • atrial fibrillation, familial, 1
- elite association - COSMIC cancer census association via MalaCards
Search IRX4 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for IRX4

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with IRX4: view

No data available for UniProtKB/Swiss-Prot and Genatlas for IRX4 Gene

Publications for IRX4 Gene

  1. Cardiac expression of the ventricle-specific homeobox gene Irx4 is modulated by Nkx2-5 and dHand. (PMID: 10625552) Bruneau BG … Seidman CE (Developmental biology 2000) 2 3 4 23
  2. IRX4 at 5p15 suppresses prostate cancer growth through the interaction with vitamin D receptor, conferring prostate cancer susceptibility. (PMID: 22323358) Nguyen HH … Nakagawa H (Human molecular genetics 2012) 3 4
  3. Genetic determinants of cardiovascular events among women with migraine: a genome-wide association study. (PMID: 21779381) Schürks M … Kurth T (PloS one 2011) 3 41
  4. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 41
  5. Genetic analysis of the Irx4 gene in hypertrophic cardiomyopathy. (PMID: 18497553) Bayrak F … Erginel-Unaltuna N (Turk Kardiyoloji Dernegi arsivi : Turk Kardiyoloji Derneginin yayin organidir 2008) 3 41

Products for IRX4 Gene

Sources for IRX4 Gene