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IRX5 iroquois homeobox 5 [ Homo sapiens (human) ]

Gene ID: 10265, updated on 26-May-2016
Official Symbol
IRX5provided by HGNC
Official Full Name
iroquois homeobox 5provided by HGNC
Primary source
HGNC:HGNC:14361
See related
Ensembl:ENSG00000176842 HPRD:08395; MIM:606195; Vega:OTTHUMG00000133201
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]
Orthologs
Location:
16q12.2
Exon count:
4
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 16 NC_000016.10 (54931199..54934485)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (54965111..54968397)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105371276 Neighboring gene uncharacterized LOC105371275 Neighboring gene colorectal neoplasia differentially expressed (non-protein coding) Neighboring gene uncharacterized LOC105371278 Neighboring gene iroquois homeobox 6

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Hypertelorism, severe, with midface prominence, myopia, mental retardation, and bone fragility
MedGen: C1970027 OMIM: 611174 GeneReviews: Not available
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NHGRI GWAS Catalog

Description
Genome-wide association analyses identify variants in developmental genes associated with hypospadias.
NHGRI GWA Catalog
Genome-wide association scan for survival on dialysis in African-Americans with type 2 diabetes.
NHGRI GWA Catalog
Variability in the common genetic architecture of social-communication spectrum phenotypes during childhood and adolescence.
NHGRI GWA Catalog
Products Interactant Other Gene Complex Source Pubs Description

Markers

Gene Ontology Provided by GOA

Function Evidence Code Pubs
sequence-specific DNA binding IEA
Inferred from Electronic Annotation
more info
 
vitamin D binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
embryonic cranial skeleton morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
gonad development IMP
Inferred from Mutant Phenotype
more info
PubMed 
neuron maturation IEA
Inferred from Electronic Annotation
more info
 
regulation of heart rate IEA
Inferred from Electronic Annotation
more info
 
regulation of transcription, DNA-templated IEA
Inferred from Electronic Annotation
more info
 
response to stimulus IEA
Inferred from Electronic Annotation
more info
 
retinal bipolar neuron differentiation IEA
Inferred from Electronic Annotation
more info
 
transcription, DNA-templated IEA
Inferred from Electronic Annotation
more info
 
visual perception IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
nucleus IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
iroquois-class homeodomain protein IRX-5
Names
homeodomain protein IRX-2A
homeodomain protein IRXB2

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
    5001..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, OTTHUMP00000164260, ENST00000320990, OTTHUMT00000256912
    Conserved Domains (2) summary
    smart00548
    Location:326343
    IRO; Motif in Iroquois-class homeodomain proteins (only). Unknown function
    cd00086
    Location:117175
    homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.
  2. NM_005853.5NP_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)
    AY335945, BC074850
    Consensus CDS
    CCDS10751.1
    UniProtKB/Swiss-Prot
    P78411
    Related
    ENSP00000378132, OTTHUMP00000164259, ENST00000394636, OTTHUMT00000256911
    Conserved Domains (2) summary
    smart00548
    Location:327344
    IRO; Motif in Iroquois-class homeodomain proteins (only). Unknown function
    cd00086
    Location:117175
    homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p2 Primary Assembly

    Range
    54931199..54934485
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011522809.1XP_011521111.1  

    Conserved Domains (2) summary
    smart00548
    Location:257274
    IRO; Motif in Iroquois-class homeodomain proteins (only). Unknown function
    cd00086
    Location:47105
    homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.

Alternate CHM1_1.1

Genomic

  1. NC_018927.2 Alternate CHM1_1.1

    Range
    56372071..56375357
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)