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Aliases for IRX2 Gene

Aliases for IRX2 Gene

  • Iroquois Homeobox 2 2 3 5
  • Iroquois Homeobox Protein 2 3 4
  • Homeodomain Protein IRXA2 3 4
  • IRXA2 3 4
  • Iroquois-Class Homeodomain Protein IRX-2 3

External Ids for IRX2 Gene

Previous GeneCards Identifiers for IRX2 Gene

  • GC05U990165
  • GC05M002901
  • GC05M002782
  • GC05M002792
  • GC05M002799

Summaries for IRX2 Gene

Entrez Gene Summary for IRX2 Gene

  • IRX2 is a member of the Iroquois homeobox gene family. Members of this family appear to play multiple roles during pattern formation of vertebrate embryos.[supplied by OMIM, Apr 2004]

GeneCards Summary for IRX2 Gene

IRX2 (Iroquois Homeobox 2) is a Protein Coding gene. Diseases associated with IRX2 include Kidney Clear Cell Sarcoma. Gene Ontology (GO) annotations related to this gene include sequence-specific DNA binding. An important paralog of this gene is IRX5.

Gene Wiki entry for IRX2 Gene

Additional gene information for IRX2 Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for IRX2 Gene

Genomics for IRX2 Gene

GeneHancer (GH) Regulatory Elements for IRX2 Gene

Promoters and enhancers for IRX2 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH05J002746 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 660.1 +1.5 1538 7.5 CTCF PKNOX1 DDX20 BACH1 SIN3A ZNF384 ZBTB7B ZFHX2 GATA3 POLR2A IRX2 C5orf38 ENSG00000248994 GC05M002727
GH05J002779 Enhancer 1 ENCODE dbSUPER 12.7 -28.8 -28808 1.5 CLOCK NFIB NEUROD1 SIN3A BMI1 ZBTB7B ZNF207 FOS RCOR1 HCFC1 C5orf38 IRX2 LOC100130748
GH05J002780 Enhancer 0.8 ENCODE dbSUPER 12.7 -28.0 -27960 0.2 SMARCE1 NCOA3 ZNF687 NFIB GATAD2B DPF2 KLF4 E2F1 ZNF217 CTBP1 C5orf38 IRX2 LOC100130748
GH05J002093 Enhancer 0.6 ENCODE 6.2 +657.5 657475 2.1 MITF IRF2 L3MBTL2 NRF1 NFE2 ZNF354B MGA TCF7L2 LOC105374618 LOC100132773 ENSG00000271119 SDHAP3 IRX4 IRX2 GC05M002149
GH05J002742 Enhancer 0.6 ENCODE dbSUPER 0.4 +8.1 8118 1.4 POLR2A ZFX EZH2 GC05M002727 ENSG00000259757 IRX2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around IRX2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the IRX2 gene promoter:
  • PPAR-gamma2
  • PPAR-gamma1
  • POU2F1a
  • POU2F1
  • c-Ets-1
  • AP-2beta
  • AP-2alphaA
  • AP-2alpha
  • COMP1
  • AP-2gamma

Genomic Locations for IRX2 Gene

Genomic Locations for IRX2 Gene
9,800 bases
Minus strand
7,011 bases
Minus strand

Genomic View for IRX2 Gene

Genes around IRX2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
IRX2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for IRX2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for IRX2 Gene

Proteins for IRX2 Gene

  • Protein details for IRX2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Iroquois-class homeodomain protein IRX-2
    Protein Accession:
    Secondary Accessions:
    • Q68A19
    • Q7Z2I7

    Protein attributes for IRX2 Gene

    471 amino acids
    Molecular mass:
    49129 Da
    Quaternary structure:
    No Data Available

neXtProt entry for IRX2 Gene

Post-translational modifications for IRX2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for IRX2 Gene

No data available for DME Specific Peptides for IRX2 Gene

Domains & Families for IRX2 Gene

Gene Families for IRX2 Gene

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

Suggested Antigen Peptide Sequences for IRX2 Gene

GenScript: Design optimal peptide antigens:

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 IRX2: view

Function for IRX2 Gene

Phenotypes From GWAS Catalog for IRX2 Gene

Gene Ontology (GO) - Molecular Function for IRX2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding NAS 19274049
GO:0001227 transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific DNA binding IC --
GO:0003677 DNA binding IEA --
GO:0043565 sequence-specific DNA binding IDA 23332764
genes like me logo Genes that share ontologies with IRX2: view
genes like me logo Genes that share phenotypes with IRX2: view

Animal Models for IRX2 Gene

MGI Knock Outs for IRX2:

Animal Model Products

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for IRX2 Gene

Localization for IRX2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for IRX2 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 IRX2 gene
Compartment Confidence
nucleus 5
extracellular 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoli (2)
  • Nucleus (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for IRX2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
genes like me logo Genes that share ontologies with IRX2: view

Pathways & Interactions for IRX2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for IRX2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II IDA 26560478
GO:0001656 metanephros development IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0072086 specification of loop of Henle identity IEA --
GO:0072272 proximal/distal pattern formation involved in metanephric nephron development IEA --
genes like me logo Genes that share ontologies with IRX2: view

No data available for Pathways by source and SIGNOR curated interactions for IRX2 Gene

Drugs & Compounds for IRX2 Gene

No Compound Related Data Available

Transcripts for IRX2 Gene

mRNA/cDNA for IRX2 Gene

Unigene Clusters for IRX2 Gene

Iroquois homeobox 2:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for IRX2 Gene

ExUns: 1 ^ 2 ^ 3a · 3b · 3c · 3d ^ 4a · 4b ^ 5a · 5b · 5c · 5d
SP1: -
SP2: - -
SP3: -

Relevant External Links for IRX2 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for IRX2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for IRX2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for IRX2 Gene

This gene is overexpressed in Skin - Not Sun Exposed (Suprapubic) (x8.2), Minor Salivary Gland (x7.9), Skin - Sun Exposed (Lower leg) (x6.3), Breast - Mammary Tissue (x5.1), and Lung (x4.0).

NURSA nuclear receptor signaling pathways regulating expression of IRX2 Gene:


SOURCE GeneReport for Unigene cluster for IRX2 Gene:


Evidence on tissue expression from TISSUES for IRX2 Gene

  • Lung(4.6)
  • Kidney(4.2)
genes like me logo Genes that share expression patterns with IRX2: view

No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for IRX2 Gene

Orthologs for IRX2 Gene

This gene was present in the common ancestor of animals.

Orthologs for IRX2 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia IRX2 34 33
  • 99.65 (n)
(Canis familiaris)
Mammalia IRX2 34 33
  • 93.62 (n)
(Bos Taurus)
Mammalia IRX2 34
  • 93 (a)
(Rattus norvegicus)
Mammalia Irx2 33
  • 88.68 (n)
(Mus musculus)
Mammalia Irx2 16 34 33
  • 88.18 (n)
(Monodelphis domestica)
Mammalia IRX2 34
  • 78 (a)
(Ornithorhynchus anatinus)
Mammalia IRX2 34
  • 67 (a)
(Gallus gallus)
Aves IRX2 34 33
  • 78.02 (n)
(Anolis carolinensis)
Reptilia IRX2 34
  • 72 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia irx2 33
  • 69.42 (n)
Str.7073 33
African clawed frog
(Xenopus laevis)
Amphibia irx2-A 33
(Danio rerio)
Actinopterygii irx2a 34 33
  • 69.34 (n)
zgc65872 33
fruit fly
(Drosophila melanogaster)
Insecta mirr 34
  • 22 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 23 (a)
Species where no ortholog for IRX2 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)
  • 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 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 IRX2 Gene

Gene Tree for IRX2 (if available)
Gene Tree for IRX2 (if available)
Evolutionary constrained regions (ECRs) for IRX2: view image

Paralogs for IRX2 Gene

Paralogs for IRX2 Gene

(2) SIMAP similar genes for IRX2 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with IRX2: view

Variants for IRX2 Gene

Sequence variations from dbSNP and Humsavar for IRX2 Gene

SNP ID Clin Chr 05 pos Variation AA Info Type
rs1000114654 -- 2,711,474(-) C/T genic_downstream_transcript_variant, intron_variant
rs1000138472 -- 2,733,463(-) G/A genic_downstream_transcript_variant, intron_variant
rs1000194321 -- 2,741,105(-) G/C 3_prime_UTR_variant, genic_downstream_transcript_variant, intron_variant
rs1000241530 -- 2,743,756(-) T/C genic_downstream_transcript_variant, intron_variant
rs1000294514 -- 2,738,703(-) C/G genic_downstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for IRX2 Gene

Variant ID Type Subtype PubMed ID
dgv931n67 CNV gain 20364138
nsv1074267 CNV deletion 25765185
nsv1122099 CNV deletion 24896259
nsv1145050 CNV deletion 24896259
nsv461913 CNV loss 19166990
nsv596918 CNV loss 21841781
nsv822972 CNV gain 20364138
nsv822975 CNV gain 20364138
nsv822977 CNV gain 20364138
nsv950637 CNV deletion 24416366

Variation tolerance for IRX2 Gene

Residual Variation Intolerance Score: 25.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.76; 73.48% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for IRX2 Gene

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 IRX2 Gene

Disorders for IRX2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for IRX2 Gene - From: Orphanet

Disorder Aliases PubMed IDs
kidney clear cell sarcoma
  • childhood kidney clear cell sarcoma
- elite association - COSMIC cancer census association via MalaCards
Search IRX2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for IRX2

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with IRX2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for IRX2 Gene

Publications for IRX2 Gene

  1. Cloning and chromosome mapping of human and chicken Iroquois (IRX) genes. (PMID: 11435706) Ogura K … Ogura T (Cytogenetics and cell genetics 2001) 2 3 4 58
  2. A genome-wide scan maps a novel high myopia locus to 5p15. (PMID: 18421076) Lam CY … Lam DS (Investigative ophthalmology & visual science 2008) 3 44 58
  3. Regulated expression patterns of IRX-2, an Iroquois-class homeobox gene, in the human breast. (PMID: 10370142) Lewis MT … Daniel CW (Cell and tissue research 1999) 3 22 58
  4. Genome-wide association study of selenium concentrations. (PMID: 25343990) Cornelis MC … He K (Human molecular genetics 2015) 3 58
  5. IRX2-mediated upregulation of MMP-9 and VEGF in a PI3K/AKT-dependent manner. (PMID: 26062523) Liu T … Wang Y (Molecular medicine reports 2015) 3 58

Products for IRX2 Gene

Sources for IRX2 Gene

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