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    IRX5 iroquois homeobox 5 [ Homo sapiens (human) ]

    Gene ID: 10265, updated on 24-Jun-2024

    Summary

    Official Symbol
    IRX5provided by HGNC
    Official Full Name
    iroquois homeobox 5provided by HGNC
    Primary source
    HGNC:HGNC:14361
    See related
    Ensembl:ENSG00000176842 MIM:606195; AllianceGenome:HGNC:14361
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    HMMS; IRXB2; IRX-2a
    Summary
    This gene encodes a member of the iroquois homeobox gene family, which are involved in several embryonic developmental processes. Knockout mice lacking this gene show that it is required for retinal cone bipolar cell differentiation, and that it negatively regulates potassium channel gene expression in the heart to ensure coordinated cardiac repolarization. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]
    Expression
    Biased expression in lung (RPKM 4.8), skin (RPKM 3.3) and 10 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See IRX5 in Genome Data Viewer
    Location:
    16q12.2
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (54930865..54934485)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (60728978..60732598)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (54964777..54968397)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105371275 Neighboring gene uncharacterized LOC105371276 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7503 Neighboring gene colorectal neoplasia differentially expressed Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7504 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7505 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7506 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:54965529-54966728 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:54968431-54969182 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:54969183-54969932 Neighboring gene uncharacterized LOC124903692 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:54970502-54971064 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:54973318-54973880 Neighboring gene uncharacterized LOC105371277 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr16:54985537-54986736

    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

    Associated conditions

    Description Tests
    Craniofacial dysplasia - osteopenia syndrome
    MedGen: C1970027 OMIM: 611174 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

    Description
    Genome-wide association analyses identify variants in developmental genes associated with hypospadias.
    EBI GWAS Catalog
    Genome-wide association scan for survival on dialysis in African-Americans with type 2 diabetes.
    EBI GWAS Catalog
    Variability in the common genetic architecture of social-communication spectrum phenotypes during childhood and adolescence.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in cell development IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in embryonic cranial skeleton morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in gonad development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in neuron differentiation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in visual perception IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    part_of chromatin ISA
    Inferred from Sequence Alignment
    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-5
    Names
    homeodomain protein IRX-2A
    homeodomain protein IRXB2

    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.

    Genomic

    1. NG_032773.1 RefSeqGene

      Range
      4667..8287
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001252197.1NP_001239126.1  iroquois-class homeodomain protein IRX-5 isoform 2

      See identical proteins and their annotated locations for NP_001239126.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate, in-frame acceptor splice site at the 3' terminal exon compared to variant 1. This results in an isoform (2) that is 1 aa shorter than isoform 1.
      Source sequence(s)
      AY335945
      Consensus CDS
      CCDS58462.1
      UniProtKB/Swiss-Prot
      P78411
      Related
      ENSP00000316250.5, ENST00000320990.9
      Conserved Domains (2) summary
      smart00548
      Location:326343
      IRO; Motif in Iroquois-class homeodomain proteins (only). Unknown function
      pfam05920
      Location:131170
      Homeobox_KN; Homeobox KN domain
    2. NM_005853.6NP_005844.4  iroquois-class homeodomain protein IRX-5 isoform 1

      See identical proteins and their annotated locations for NP_005844.4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AC106738, AY335945, BC074850
      Consensus CDS
      CCDS10751.1
      UniProtKB/Swiss-Prot
      H0YMS7, P78411, P78416, Q7Z2E1
      Related
      ENSP00000378132.4, ENST00000394636.9
      Conserved Domains (2) summary
      smart00548
      Location:327344
      IRO; Motif in Iroquois-class homeodomain proteins (only). Unknown function
      pfam05920
      Location:131170
      Homeobox_KN; Homeobox KN domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    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
      54930865..54934485
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011522809.1XP_011521111.1  iroquois-class homeodomain protein IRX-5 isoform X1

      Conserved Domains (2) summary
      smart00548
      Location:257274
      IRO; Motif in Iroquois-class homeodomain proteins (only). Unknown function
      pfam05920
      Location:61100
      Homeobox_KN; Homeobox KN domain

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      60728978..60732598
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054379377.1XP_054235352.1  iroquois-class homeodomain protein IRX-5 isoform X1