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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. 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

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

Genomics for IRX2 Gene

Regulatory Elements for IRX2 Gene

Enhancers for IRX2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH05F002746 1.1 FANTOM5 ENCODE 10.1 +1.5 1538 7.5 CTCF PKNOX1 ZNF687 CBX2 CHD1 SIN3A ZNF384 ZNF592 GATA3 ZFHX2 IRX2 ENSG00000248994 C5orf38 GC05M002727
GH05F002779 0.8 ENCODE 12.7 -28.8 -28809 1.5 HDGF CBX3 SIN3A RAD21 ZNF207 FOS RCOR1 HCFC1 ZHX2 ZNF592 C5orf38 IRX2 LOC100130748
GH05F002780 0.7 ENCODE 12.7 -28.0 -27960 0.2 ZNF687 GATAD2B DPF2 KLF4 ZNF217 MBD2 E2F1 CTBP1 GATA3 FOSL2 C5orf38 IRX2 LOC100130748
GH05F002093 0.7 ENCODE 6.2 +657.5 657476 2.1 IRF2 L3MBTL2 CREB3L1 NRF1 MAFG USF2 NR3C1 RAD51 NFE2 IRF1 IRX4 IRX2 LOC105374618 GC05M002149
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around IRX2 on UCSC Golden Path with GeneCards custom track

Promoters for IRX2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001866669 462 2801 PKNOX1 ZNF687 CBX2 CHD1 SIN3A ZNF592 POLR2A SMARCA4 POU5F1 EZH2
ENSR00001866670 -1638 201 ZFHX2 EGR2 EZH2

Genomic Location for IRX2 Gene

Chromosome:
5
Start:
2,741,863 bp from pter
End:
2,751,662 bp from pter
Size:
9,800 bases
Orientation:
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:
    Q9BZI1-IRX2_HUMAN
    Recommended name:
    Iroquois-class homeodomain protein IRX-2
    Protein Accession:
    Q9BZI1
    Secondary Accessions:
    • Q68A19
    • Q7Z2I7

    Protein attributes for IRX2 Gene

    Size:
    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

Suggested Antigen Peptide Sequences for IRX2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9BZI1

UniProtKB/Swiss-Prot:

IRX2_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 IRX2: view

Function for IRX2 Gene

Gene Ontology (GO) - Molecular Function for IRX2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
GO:0043565 sequence-specific DNA binding IEA --
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

Inhibitory RNA Products

Flow Cytometry 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

COMPARTMENTS
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

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: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

Transcripts for IRX2 Gene

mRNA/cDNA for IRX2 Gene

Unigene Clusters for IRX2 Gene

Iroquois homeobox 2:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry 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: -
SP4:
SP5:

Relevant External Links for IRX2 Gene

GeneLoc Exon Structure for
IRX2
ECgene alternative splicing isoforms for
IRX2

Expression for IRX2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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:

IRX2

SOURCE GeneReport for Unigene cluster for IRX2 Gene:

Hs.282089
genes like me logo Genes that share expression patterns with IRX2: view

Primer Products

No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt 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
chimpanzee
(Pan troglodytes)
Mammalia IRX2 34 35
  • 99.65 (n)
dog
(Canis familiaris)
Mammalia IRX2 34 35
  • 93.62 (n)
cow
(Bos Taurus)
Mammalia IRX2 35
  • 93 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Irx2 34
  • 88.68 (n)
mouse
(Mus musculus)
Mammalia Irx2 34 16 35
  • 88.18 (n)
oppossum
(Monodelphis domestica)
Mammalia IRX2 35
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia IRX2 35
  • 67 (a)
OneToOne
chicken
(Gallus gallus)
Aves IRX2 34 35
  • 78.02 (n)
lizard
(Anolis carolinensis)
Reptilia IRX2 35
  • 72 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia irx2 34
  • 69.42 (n)
Str.7073 34
African clawed frog
(Xenopus laevis)
Amphibia irx2-A 34
zebrafish
(Danio rerio)
Actinopterygii irx2a 34 35
  • 69.34 (n)
zgc65872 34
fruit fly
(Drosophila melanogaster)
Insecta mirr 35
  • 22 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 23 (a)
OneToMany
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

ENSEMBL:
Gene Tree for IRX2 (if available)
TreeFam:
Gene Tree for IRX2 (if available)

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 Sequence Context AA Info Type
rs10037555 -- 2,708,772(+) TCCTC(C/G)TTCGG nc-transcript-variant
rs10039806 -- 2,715,120(+) GGTAG(A/C)AAAGG intron-variant
rs10040787 -- 2,740,182(+) GCGTG(C/G)GGGGG intron-variant
rs10046058 -- 2,708,764(+) GGCCA(A/G)TGTCC nc-transcript-variant
rs10063207 -- 2,711,405(+) ACCAC(A/G)TAAGA intron-variant

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

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

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)

Relevant External Links for IRX2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
IRX2

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

Relevant External Links for IRX2

Genetic Association Database (GAD)
IRX2
Human Genome Epidemiology (HuGE) Navigator
IRX2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
IRX2
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. (Cytogenet. Cell Genet. 2001) 2 3 4 64
  2. A genome-wide scan maps a novel high myopia locus to 5p15. (PMID: 18421076) Lam C.Y. … Lam D.S. (Invest. Ophthalmol. Vis. Sci. 2008) 3 46 64
  3. Regulated expression patterns of IRX-2, an Iroquois-class homeobox gene, in the human breast. (PMID: 10370142) Lewis M.T. … Daniel C.W. (Cell Tissue Res. 1999) 3 22 64
  4. Genome-wide association study of selenium concentrations. (PMID: 25343990) Cornelis M.C. … He K. (Hum. Mol. Genet. 2015) 3 64
  5. IRX2-mediated upregulation of MMP-9 and VEGF in a PI3K/AKT-dependent manner. (PMID: 26062523) Liu T. … Wang Y. (Mol Med Rep 2015) 3 64

Products for IRX2 Gene

Sources for IRX2 Gene

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