Entity Details

Primary name IRX5
Entity type gene
Source Source Link

Details

PrimaryID10265
RefseqGeneNG_032773
SymbolIRX5
Nameiroquois homeobox 5
Chromosome16
Location16q12.2
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2001-02-26
ModificationDate2021-06-20

Ontological Relatives

UniProt IDsIRX5_HUMAN

GO terms

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GOName
GO:0000785 chromatin
GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific
GO:0005499 vitamin D binding
GO:0005634 nucleus
GO:0006357 regulation of transcription by RNA polymerase II
GO:0007601 visual perception
GO:0008406 gonad development
GO:0030182 neuron differentiation
GO:0048468 cell development
GO:0048701 embryonic cranial skeleton morphogenesis
GO:0050896 response to stimulus
GO:1990837 sequence-specific double-stranded DNA binding

Diseases

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Disease IDSourceNameDescription
611174 OMIMHamamy syndrome (HMMS)A syndrome characterized by severe hypertelorism, upslanting palpebral fissures, brachycephaly, abnormal ears, sloping shoulders, enamel hypoplasia, and osteopenia with repeated fractures. Additional features include myopia, mild to moderate sensorineural hearing loss, gonadal anomalies and borderline intelligence. The disease is caused by variants affecting the gene represented in this entry.