U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from GEO Profiles

    • Showing Current items.

    IRX3 iroquois homeobox 3 [ Homo sapiens (human) ]

    Gene ID: 79191, updated on 9-Dec-2024

    Summary

    Official Symbol
    IRX3provided by HGNC
    Official Full Name
    iroquois homeobox 3provided by HGNC
    Primary source
    HGNC:HGNC:14360
    See related
    Ensembl:ENSG00000177508 MIM:612985; AllianceGenome:HGNC:14360
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    IRX-1; IRXB1
    Summary
    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]
    Expression
    Biased expression in lung (RPKM 13.1), skin (RPKM 8.6) and 10 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See IRX3 in Genome Data Viewer
    Location:
    16q12.2
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (54283304..54286787, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (60081297..60084780, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (54317216..54320699, complement)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene FTO alpha-ketoglutarate dependent dioxygenase Neighboring gene uncharacterized LOC105371271 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr16:54082723-54083657 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr16:54083658-54084591 Neighboring gene VISTA enhancer hs52 Neighboring gene Sharpr-MPRA regulatory region 5065 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:54228087-54228979 Neighboring gene Sharpr-MPRA regulatory region 10961 Neighboring gene long intergenic non-protein coding RNA 2169 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:54318795-54319714 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:54319715-54320634 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:54320768-54321268 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:54321269-54321769 Neighboring gene VISTA enhancer hs51 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:54325084-54325965 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:54364959-54365668 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:54396413-54396916 Neighboring gene uncharacterized LOC105371272 Neighboring gene long intergenic non-protein coding RNA 2140 Neighboring gene NANOG hESC enhancer GRCh37_chr16:54459786-54460294 Neighboring gene NANOG hESC enhancer GRCh37_chr16:54464241-54464805 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:54523058-54523261 Neighboring gene VISTA enhancer hs43 Neighboring gene long intergenic non-protein coding RNA 2183

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    Genome-wide association scan for survival on dialysis in African-Americans with type 2 diabetes.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ99187

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in His-Purkinje system cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in Purkinje myocyte development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in atrioventricular bundle cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cell development IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in energy homeostasis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in mesoderm development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in metanephros development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of neuron differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of transcription by RNA polymerase II ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    involved_in neuron differentiation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in positive regulation of gap junction assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    involved_in positive regulation of neuron differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of transcription by RNA polymerase II ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    acts_upstream_of regulation of cell communication by electrical coupling involved in cardiac conduction ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in specification of loop of Henle identity IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in axon IEA
    Inferred from Electronic Annotation
    more info
     
    located_in chromatin ISA
    Inferred from Sequence Alignment
    more info
     
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    iroquois-class homeodomain protein IRX-3
    Names
    homeodomain protein IRXB1
    iroquois homeobox protein 3
    iroquois-class homeodomain protein IRX-1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_024336.3NP_077312.2  iroquois-class homeodomain protein IRX-3

      See identical proteins and their annotated locations for NP_077312.2

      Status: VALIDATED

      Source sequence(s)
      AC018553, AY335943, BC023667
      Consensus CDS
      CCDS10750.1
      UniProtKB/Swiss-Prot
      P78415, Q7Z4A4, Q7Z4A5, Q8IVC6
      Related
      ENSP00000331608.3, ENST00000329734.4
      Conserved Domains (2) summary
      smart00548
      Location:344359
      IRO; Motif in Iroquois-class homeodomain proteins (only). Unknown function
      pfam05920
      Location:145184
      Homeobox_KN; Homeobox KN domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      54283304..54286787 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005256139.4XP_005256196.1  iroquois-class homeodomain protein IRX-3 isoform X1

      Conserved Domains (2) summary
      smart00548
      Location:344359
      IRO; Motif in Iroquois-class homeodomain proteins (only). Unknown function
      pfam05920
      Location:145184
      Homeobox_KN; Homeobox KN domain

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      60081297..60084780 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054313909.1XP_054169884.1  iroquois-class homeodomain protein IRX-3 isoform X1