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    IRX5 iroquois homeobox 5 [ Homo sapiens (human) ]

    Gene ID: 10265, updated on 2-Nov-2024

    Summary

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    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
    mouse all
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    Genomic context

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    See IRX5 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 (54930865..54934485)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (60728978..60732598)
    RS_2024_09 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

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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

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    Related articles in PubMed

    1. [Irx5: a transcription factor that regulates the cardiac repolarization gradient]. Bruneau BG. Med Sci (Paris), 2006 Mar. PMID 16527195
    2. Human model of IRX5 mutations reveals key role for this transcription factor in ventricular conduction. Al Sayed ZR, et al. Cardiovasc Res, 2021 Jul 27. PMID 32898233
    3. The iroquois homeobox gene 5 is regulated by 1,25-dihydroxyvitamin D3 in human prostate cancer and regulates apoptosis and the cell cycle in LNCaP prostate cancer cells. Myrthue A, et al. Clin Cancer Res, 2008 Jun 1. PMID 18519790
    4. IRX5 prompts genomic instability in colorectal cancer cells. Sun X, et al. J Cell Biochem, 2020 Nov. PMID 32162364
    5. Transcription factorIRX5 promotes hepatocellular carcinoma proliferation and inhibits apoptosis by regulating the p53 signalling pathway. Zhu L, et al. Cell Biochem Funct, 2020 Jul. PMID 32153043, Free PMC Article

    See all (29) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. IRX5 suppresses osteogenic differentiation of hBMSCs by inhibiting protein synthesis.
      Title: IRX5 suppresses osteogenic differentiation of hBMSCs by inhibiting protein synthesis.
    2. The Hematopoietic TALE-Code Shows Normal Activity of IRX1 in Myeloid Progenitors and Reveals Ectopic Expression of IRX3 and IRX5 in Acute Myeloid Leukemia.
      Title: The Hematopoietic TALE-Code Shows Normal Activity of IRX1 in Myeloid Progenitors and Reveals Ectopic Expression of IRX3 and IRX5 in Acute Myeloid Leukemia.
    3. A duplication on chromosome 16q12 affecting the IRXB gene cluster is associated with autosomal dominant cone dystrophy with early tritanopic color vision defect.
      Title: A duplication on chromosome 16q12 affecting the IRXB gene cluster is associated with autosomal dominant cone dystrophy with early tritanopic color vision defect.
    4. Human model of IRX5 mutations reveals key role for this transcription factor in ventricular conduction.
      Title: Human model of IRX5 mutations reveals key role for this transcription factor in ventricular conduction.
    5. IRX5 prompts genomic instability in colorectal cancer cells.
      Title: IRX5 prompts genomic instability in colorectal cancer cells.
    6. Iroquois Homeobox 5 Negatively Regulated by miRNA-147 Promotes the Proliferation, Metastasis, and Invasion by Oral Squamous Cell Carcinoma.
      Title: Iroquois Homeobox 5 Negatively Regulated by miRNA-147 Promotes the Proliferation, Metastasis, and Invasion by Oral Squamous Cell Carcinoma.
    7. Extensive pleiotropism and allelic heterogeneity mediate metabolic effects of IRX3 and IRX5.
      Title: Extensive pleiotropism and allelic heterogeneity mediate metabolic effects of IRX3 and IRX5.
    8. Primary preadipocytes from carriers of the obesity risk allele rs1421085, in which expression of IRX3 and IRX5 is increased, displayed excessive accumulation of triglycerides, reduced mitochondrial oxidative capacity, reduced white adipocyte browning, and reduced thermogenesis relative to primary preadipocytes from nonrisk allele carriers.
      Title: FTO Obesity Variant Circuitry and Adipocyte Browning in Humans.
    9. Genome editing in primary preadipocytes to create the obesity risk allele of rs1421085 caused increased expression of IRX3 and IRX5 during early adipocyte differentiation by disrupting a binding site for the ARID5B repressor.
      Title: FTO Obesity Variant Circuitry and Adipocyte Browning in Humans.
    10. Transcription factorIRX5 promotes hepatocellular carcinoma proliferation and inhibits apoptosis by regulating the p53 signalling pathway.
      Title: Transcription factorIRX5 promotes hepatocellular carcinoma proliferation and inhibits apoptosis by regulating the p53 signalling pathway.
    Submit: New GeneRIF Correction See all GeneRIFs (16)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA-binding transcription factor activity, RNA polymerase II-specific IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables DNA-binding transcription factor activity, RNA polymerase II-specific ISA
    Inferred from Sequence Alignment
    more info
    		  
    enables DNA-binding transcription factor binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables identical protein binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables sequence-specific double-stranded DNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables vitamin D binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    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
    located_in chromatin ISA
    Inferred from Sequence Alignment
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    iroquois-class homeodomain protein IRX-5
    Names
    homeodomain protein IRX-2A
    homeodomain protein IRXB2

    NCBI Reference Sequences (RefSeq)

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    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_001252197.1 → NP_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:326 → 343
      IRO; Motif in Iroquois-class homeodomain proteins (only). Unknown function
      pfam05920
      Location:131 → 170
      Homeobox_KN; Homeobox KN domain

    2. NM_005853.6 → NP_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:327 → 344
      IRO; Motif in Iroquois-class homeodomain proteins (only). Unknown function
      pfam05920
      Location:131 → 170
      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
      54930865..54934485
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

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

      Conserved Domains (2) summary
      smart00548
      Location:257 → 274
      IRO; Motif in Iroquois-class homeodomain proteins (only). Unknown function
      pfam05920
      Location:61 → 100
      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_054379377.1 → XP_054235352.1  iroquois-class homeodomain protein IRX-5 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P78411.3 GenPept UniProtKB/Swiss-Prot:P78411

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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